Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000539	HP:0000539	Abnormality of refraction	0	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum			415
HP:0000539	HP:0000539	Abnormality of refraction	0	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste			415
HP:0000539	HP:0000539	Abnormality of refraction	0	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency			120
HP:0000539	HP:0000539	Abnormality of refraction	0	ACSL4 CL E G H	2182	3571	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			19
HP:0000539	HP:0000539	Abnormality of refraction	0	ADAMTS10 CL E G H	81794	13201	ORPHA:3449	Weill-Marchesani syndrome			63
HP:0000539	HP:0000539	Abnormality of refraction	0	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1			63
HP:0000539	HP:0000539	Abnormality of refraction	0	ADAMTS17 CL E G H	170691	17109	OMIM:613195	Weill-Marchesani syndrome 4			214
HP:0000539	HP:0000539	Abnormality of refraction	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive			165
HP:0000539	HP:0000539	Abnormality of refraction	0	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0000539	HP:0000539	Abnormality of refraction	0	ADAMTSL4 CL E G H	54507	19706	OMIM:225200	Ectopia lentis et pupillae			84
HP:0000539	HP:0000539	Abnormality of refraction	0	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0000539	HP:0000539	Abnormality of refraction	0	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2			530
HP:0000539	HP:0000539	Abnormality of refraction	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0000539	HP:0000539	Abnormality of refraction	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome			47
HP:0000539	HP:0000539	Abnormality of refraction	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0000539	HP:0000539	Abnormality of refraction	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0000539	HP:0000539	Abnormality of refraction	0	AGBL5 CL E G H	60509	26147	OMIM:617023	Retinitis pigmentosa 75			2
HP:0000539	HP:0000539	Abnormality of refraction	0	AGK CL E G H	55750	21869	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome			82
HP:0000539	HP:0000539	Abnormality of refraction	0	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome			82
HP:0000539	HP:0000539	Abnormality of refraction	0	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome			36
HP:0000539	HP:0000539	Abnormality of refraction	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome			54
HP:0000539	HP:0000539	Abnormality of refraction	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6			54
HP:0000539	HP:0000539	Abnormality of refraction	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0000539	HP:0000539	Abnormality of refraction	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA			89
HP:0000539	HP:0000539	Abnormality of refraction	0	ALDH1A3 CL E G H	220	409	ORPHA:35612	Nanophthalmos			10
HP:0000539	HP:0000539	Abnormality of refraction	0	ALDH3A2 CL E G H	224	403	ORPHA:816	Sjögren-Larsson syndrome			87
HP:0000539	HP:0000539	Abnormality of refraction	0	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome			87
HP:0000539	HP:0000539	Abnormality of refraction	0	AMMECR1 CL E G H	9949	467	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			2
HP:0000539	HP:0000539	Abnormality of refraction	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome			102
HP:0000539	HP:0000539	Abnormality of refraction	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome			8
HP:0000539	HP:0000539	Abnormality of refraction	0	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0000539	HP:0000539	Abnormality of refraction	0	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0000539	HP:0000539	Abnormality of refraction	0	AP3D1 CL E G H	8943	568	ORPHA:54	X-linked recessive ocular albinism			1
HP:0000539	HP:0000539	Abnormality of refraction	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0000539	HP:0000539	Abnormality of refraction	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay			3
HP:0000539	HP:0000539	Abnormality of refraction	0	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0000539	HP:0000539	Abnormality of refraction	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0000539	HP:0000539	Abnormality of refraction	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0000539	HP:0000539	Abnormality of refraction	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0000539	HP:0000539	Abnormality of refraction	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0000539	HP:0000539	Abnormality of refraction	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0000539	HP:0000539	Abnormality of refraction	0	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0000539	HP:0000539	Abnormality of refraction	0	ARR3 CL E G H	407	710	OMIM:301010	MYOPIA 26, X-LINKED, FEMALE-LIMITED; MYP26			1
HP:0000539	HP:0000539	Abnormality of refraction	0	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3
HP:0000539	HP:0000539	Abnormality of refraction	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0000539	HP:0000539	Abnormality of refraction	0	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs			4
HP:0000539	HP:0000539	Abnormality of refraction	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0000539	HP:0000539	Abnormality of refraction	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0000539	HP:0000539	Abnormality of refraction	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0000539	HP:0000539	Abnormality of refraction	0	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome			5
HP:0000539	HP:0000539	Abnormality of refraction	0	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome			5
HP:0000539	HP:0000539	Abnormality of refraction	0	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		10
HP:0000539	HP:0000539	Abnormality of refraction	0	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0000539	HP:0000539	Abnormality of refraction	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			140
HP:0000539	HP:0000539	Abnormality of refraction	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA			140
HP:0000539	HP:0000539	Abnormality of refraction	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome			140
HP:0000539	HP:0000539	Abnormality of refraction	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			3
HP:0000539	HP:0000539	Abnormality of refraction	0	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3			3
HP:0000539	HP:0000539	Abnormality of refraction	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0000539	HP:0000539	Abnormality of refraction	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			2
HP:0000539	HP:0000539	Abnormality of refraction	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome			169
HP:0000539	HP:0000539	Abnormality of refraction	0	B3GALNT2 CL E G H	148789	28596	ORPHA:588	Muscle-eye-brain disease			43
HP:0000539	HP:0000539	Abnormality of refraction	0	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11			43
HP:0000539	HP:0000539	Abnormality of refraction	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0000539	HP:0000539	Abnormality of refraction	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0000539	HP:0000539	Abnormality of refraction	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0000539	HP:0000539	Abnormality of refraction	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0000539	HP:0000539	Abnormality of refraction	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG			85
HP:0000539	HP:0000539	Abnormality of refraction	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0000539	HP:0000539	Abnormality of refraction	0	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0000539	HP:0000539	Abnormality of refraction	0	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma	HP:0040283 - Occasional		184
HP:0000539	HP:0000539	Abnormality of refraction	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000539	HP:0000539	Abnormality of refraction	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0000539	HP:0000539	Abnormality of refraction	0	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9			119
HP:0000539	HP:0000539	Abnormality of refraction	0	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES			3
HP:0000539	HP:0000539	Abnormality of refraction	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000539	HP:0000539	Abnormality of refraction	0	BEST1 CL E G H	7439	12703	OMIM:611809	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB			182
HP:0000539	HP:0000539	Abnormality of refraction	0	BEST1 CL E G H	7439	12703	ORPHA:35612	Nanophthalmos			182
HP:0000539	HP:0000539	Abnormality of refraction	0	BFSP2 CL E G H	8419	1041	OMIM:611597	Cataract, autosomal dominant, multiple types 1			27
HP:0000539	HP:0000539	Abnormality of refraction	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0000539	HP:0000539	Abnormality of refraction	0	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8			42
HP:0000539	HP:0000539	Abnormality of refraction	0	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome
HP:0000539	HP:0000539	Abnormality of refraction	0	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies			38
HP:0000539	HP:0000539	Abnormality of refraction	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0000539	HP:0000539	Abnormality of refraction	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0000539	HP:0000539	Abnormality of refraction	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0000539	HP:0000539	Abnormality of refraction	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0000539	HP:0000539	Abnormality of refraction	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0000539	HP:0000539	Abnormality of refraction	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0000539	HP:0000539	Abnormality of refraction	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0000539	HP:0000539	Abnormality of refraction	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0000539	HP:0000539	Abnormality of refraction	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0000539	HP:0000539	Abnormality of refraction	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000539	HP:0000539	Abnormality of refraction	0	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome			13
HP:0000539	HP:0000539	Abnormality of refraction	0	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33
HP:0000539	HP:0000539	Abnormality of refraction	0	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness			94
HP:0000539	HP:0000539	Abnormality of refraction	0	CACNA1F CL E G H	778	1393	OMIM:300600	Aland island eye disease			58
HP:0000539	HP:0000539	Abnormality of refraction	0	CACNA1F CL E G H	778	1393	ORPHA:178333	Åland Islands eye disease			58
HP:0000539	HP:0000539	Abnormality of refraction	0	CACNA1F CL E G H	778	1393	OMIM:300476	Cone-Rod dystrophy, X-linked, 3			58
HP:0000539	HP:0000539	Abnormality of refraction	0	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness			58
HP:0000539	HP:0000539	Abnormality of refraction	0	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits			32
HP:0000539	HP:0000539	Abnormality of refraction	0	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness			129
HP:0000539	HP:0000539	Abnormality of refraction	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0000539	HP:0000539	Abnormality of refraction	0	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59			1
HP:0000539	HP:0000539	Abnormality of refraction	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0000539	HP:0000539	Abnormality of refraction	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0000539	HP:0000539	Abnormality of refraction	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0000539	HP:0000539	Abnormality of refraction	0	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type			118
HP:0000539	HP:0000539	Abnormality of refraction	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0000539	HP:0000539	Abnormality of refraction	0	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria			242
HP:0000539	HP:0000539	Abnormality of refraction	0	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency			242
HP:0000539	HP:0000539	Abnormality of refraction	0	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9			247
HP:0000539	HP:0000539	Abnormality of refraction	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0000539	HP:0000539	Abnormality of refraction	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0000539	HP:0000539	Abnormality of refraction	0	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome			7
HP:0000539	HP:0000539	Abnormality of refraction	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7			9
HP:0000539	HP:0000539	Abnormality of refraction	0	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1			636
HP:0000539	HP:0000539	Abnormality of refraction	0	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0000539	HP:0000539	Abnormality of refraction	0	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0000539	HP:0000539	Abnormality of refraction	0	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3			9
HP:0000539	HP:0000539	Abnormality of refraction	0	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0000539	HP:0000539	Abnormality of refraction	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40			16
HP:0000539	HP:0000539	Abnormality of refraction	0	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome			2
HP:0000539	HP:0000539	Abnormality of refraction	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome			14
HP:0000539	HP:0000539	Abnormality of refraction	0	CHM CL E G H	1121	1940	ORPHA:180	Choroideremia			47
HP:0000539	HP:0000539	Abnormality of refraction	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0000539	HP:0000539	Abnormality of refraction	0	CHRDL1 CL E G H	91851	29861	OMIM:309300	MEGALOCORNEA			9
HP:0000539	HP:0000539	Abnormality of refraction	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0000539	HP:0000539	Abnormality of refraction	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			27
HP:0000539	HP:0000539	Abnormality of refraction	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0000539	HP:0000539	Abnormality of refraction	0	CHST6 CL E G H	4166	6938	ORPHA:98969	Macular corneal dystrophy			129
HP:0000539	HP:0000539	Abnormality of refraction	0	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1			15
HP:0000539	HP:0000539	Abnormality of refraction	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0000539	HP:0000539	Abnormality of refraction	0	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0000539	HP:0000539	Abnormality of refraction	0	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal			58
HP:0000539	HP:0000539	Abnormality of refraction	0	CLDN19 CL E G H	149461	2040	ORPHA:2196	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement			42
HP:0000539	HP:0000539	Abnormality of refraction	0	CLDN19 CL E G H	149461	2040	OMIM:248190	Hypomagnesemia 5, renal, with or without ocular involvement			42
HP:0000539	HP:0000539	Abnormality of refraction	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000539	HP:0000539	Abnormality of refraction	0	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3			60
HP:0000539	HP:0000539	Abnormality of refraction	0	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		82
HP:0000539	HP:0000539	Abnormality of refraction	0	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2			82
HP:0000539	HP:0000539	Abnormality of refraction	0	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		194
HP:0000539	HP:0000539	Abnormality of refraction	0	CNGB3 CL E G H	54714	2153	OMIM:262300	Achromatopsia 3			194
HP:0000539	HP:0000539	Abnormality of refraction	0	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome			61
HP:0000539	HP:0000539	Abnormality of refraction	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000539	HP:0000539	Abnormality of refraction	0	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome			215
HP:0000539	HP:0000539	Abnormality of refraction	0	COL11A1 CL E G H	1301	2186	ORPHA:250984	Autosomal recessive Stickler syndrome			215
HP:0000539	HP:0000539	Abnormality of refraction	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome			215
HP:0000539	HP:0000539	Abnormality of refraction	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome			215
HP:0000539	HP:0000539	Abnormality of refraction	0	COL11A1 CL E G H	1301	2186	ORPHA:90654	Stickler syndrome type 2			215
HP:0000539	HP:0000539	Abnormality of refraction	0	COL11A1 CL E G H	1301	2186	OMIM:604841	Stickler syndrome, type II			215
HP:0000539	HP:0000539	Abnormality of refraction	0	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia			222
HP:0000539	HP:0000539	Abnormality of refraction	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome			65
HP:0000539	HP:0000539	Abnormality of refraction	0	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy			129
HP:0000539	HP:0000539	Abnormality of refraction	0	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome			177
HP:0000539	HP:0000539	Abnormality of refraction	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1			177
HP:0000539	HP:0000539	Abnormality of refraction	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0000539	HP:0000539	Abnormality of refraction	0	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis			3
HP:0000539	HP:0000539	Abnormality of refraction	0	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2			284
HP:0000539	HP:0000539	Abnormality of refraction	0	COL2A1 CL E G H	1280	2200	OMIM:132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness			284
HP:0000539	HP:0000539	Abnormality of refraction	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia			284
HP:0000539	HP:0000539	Abnormality of refraction	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0000539	HP:0000539	Abnormality of refraction	0	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type			284
HP:0000539	HP:0000539	Abnormality of refraction	0	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type			284
HP:0000539	HP:0000539	Abnormality of refraction	0	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type			284
HP:0000539	HP:0000539	Abnormality of refraction	0	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita			284
HP:0000539	HP:0000539	Abnormality of refraction	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita			284
HP:0000539	HP:0000539	Abnormality of refraction	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			284
HP:0000539	HP:0000539	Abnormality of refraction	0	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type			284
HP:0000539	HP:0000539	Abnormality of refraction	0	COL2A1 CL E G H	1280	2200	ORPHA:1856	Spondyloperipheral dysplasia-short ulna syndrome			284
HP:0000539	HP:0000539	Abnormality of refraction	0	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1			284
HP:0000539	HP:0000539	Abnormality of refraction	0	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I			284
HP:0000539	HP:0000539	Abnormality of refraction	0	COL2A1 CL E G H	1280	2200	OMIM:609508	STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR			284
HP:0000539	HP:0000539	Abnormality of refraction	0	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome			749
HP:0000539	HP:0000539	Abnormality of refraction	0	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies			193
HP:0000539	HP:0000539	Abnormality of refraction	0	COL4A3 CL E G H	1285	2204	OMIM:104200	Alport syndrome, autosomal dominant			161
HP:0000539	HP:0000539	Abnormality of refraction	0	COL4A3 CL E G H	1285	2204	OMIM:203780	Alport syndrome, autosomal recessive			161
HP:0000539	HP:0000539	Abnormality of refraction	0	COL4A4 CL E G H	1286	2206	OMIM:203780	Alport syndrome, autosomal recessive			174
HP:0000539	HP:0000539	Abnormality of refraction	0	COL4A5 CL E G H	1287	2207	OMIM:301050	Alport syndrome, X-linked			678
HP:0000539	HP:0000539	Abnormality of refraction	0	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			678
HP:0000539	HP:0000539	Abnormality of refraction	0	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			18
HP:0000539	HP:0000539	Abnormality of refraction	0	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I			660
HP:0000539	HP:0000539	Abnormality of refraction	0	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy			3
HP:0000539	HP:0000539	Abnormality of refraction	0	COL9A1 CL E G H	1297	2217	ORPHA:250984	Autosomal recessive Stickler syndrome			110
HP:0000539	HP:0000539	Abnormality of refraction	0	COL9A1 CL E G H	1297	2217	OMIM:614134	STICKLER SYNDROME, TYPE IV; STL4			110
HP:0000539	HP:0000539	Abnormality of refraction	0	COL9A2 CL E G H	1298	2218	ORPHA:250984	Autosomal recessive Stickler syndrome			110
HP:0000539	HP:0000539	Abnormality of refraction	0	COL9A2 CL E G H	1298	2218	OMIM:614284	Stickler syndrome, type V			110
HP:0000539	HP:0000539	Abnormality of refraction	0	COL9A3 CL E G H	1299	2219	OMIM:620022				137
HP:0000539	HP:0000539	Abnormality of refraction	0	COL9A3 CL E G H	1299	2219	ORPHA:250984	Autosomal recessive Stickler syndrome			137
HP:0000539	HP:0000539	Abnormality of refraction	0	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2			6
HP:0000539	HP:0000539	Abnormality of refraction	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7			6
HP:0000539	HP:0000539	Abnormality of refraction	0	CPSF1 CL E G H	29894	2324	OMIM:618827	MYOPIA 27, AUTOSOMAL DOMINANT; MYP27
HP:0000539	HP:0000539	Abnormality of refraction	0	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8			156
HP:0000539	HP:0000539	Abnormality of refraction	0	CRB1 CL E G H	23418	2343	ORPHA:35612	Nanophthalmos			156
HP:0000539	HP:0000539	Abnormality of refraction	0	CRB1 CL E G H	23418	2343	OMIM:172870	Pigmented paravenous chorioretinal atrophy			156
HP:0000539	HP:0000539	Abnormality of refraction	0	CRB1 CL E G H	23418	2343	OMIM:600105	Retinitis pigmentosa 12			156
HP:0000539	HP:0000539	Abnormality of refraction	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0000539	HP:0000539	Abnormality of refraction	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040283 - Occasional		291
HP:0000539	HP:0000539	Abnormality of refraction	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0000539	HP:0000539	Abnormality of refraction	0	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0000539	HP:0000539	Abnormality of refraction	0	CRYAA CL E G H	1409	2388	ORPHA:1377	Cataract-microcornea syndrome			33
HP:0000539	HP:0000539	Abnormality of refraction	0	CRYBA2 CL E G H	1412	2395	OMIM:115900	Cataract 42
HP:0000539	HP:0000539	Abnormality of refraction	0	CRYBA4 CL E G H	1413	2396	ORPHA:1377	Cataract-microcornea syndrome			10
HP:0000539	HP:0000539	Abnormality of refraction	0	CRYBB1 CL E G H	1414	2397	ORPHA:1377	Cataract-microcornea syndrome			18
HP:0000539	HP:0000539	Abnormality of refraction	0	CRYBB2 CL E G H	1415	2398	ORPHA:1377	Cataract-microcornea syndrome			13
HP:0000539	HP:0000539	Abnormality of refraction	0	CRYGC CL E G H	1420	2410	ORPHA:1377	Cataract-microcornea syndrome			11
HP:0000539	HP:0000539	Abnormality of refraction	0	CRYGD CL E G H	1421	2411	ORPHA:1377	Cataract-microcornea syndrome			29
HP:0000539	HP:0000539	Abnormality of refraction	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0000539	HP:0000539	Abnormality of refraction	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0000539	HP:0000539	Abnormality of refraction	0	CSTA CL E G H	1475	2481	ORPHA:263534	Acral peeling skin syndrome			4
HP:0000539	HP:0000539	Abnormality of refraction	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0000539	HP:0000539	Abnormality of refraction	0	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21			20
HP:0000539	HP:0000539	Abnormality of refraction	0	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects			88
HP:0000539	HP:0000539	Abnormality of refraction	0	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome			88
HP:0000539	HP:0000539	Abnormality of refraction	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0000539	HP:0000539	Abnormality of refraction	0	CYP1B1 CL E G H	1545	2597	ORPHA:98977	Juvenile glaucoma			101
HP:0000539	HP:0000539	Abnormality of refraction	0	CYP4V2 CL E G H	285440	23198	OMIM:210370	Bietti crystalline corneoretinal dystrophy			126
HP:0000539	HP:0000539	Abnormality of refraction	0	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma	HP:0040283 - Occasional		1
HP:0000539	HP:0000539	Abnormality of refraction	0	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy			108
HP:0000539	HP:0000539	Abnormality of refraction	0	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9			108
HP:0000539	HP:0000539	Abnormality of refraction	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000539	HP:0000539	Abnormality of refraction	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0000539	HP:0000539	Abnormality of refraction	0	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3			5
HP:0000539	HP:0000539	Abnormality of refraction	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000539	HP:0000539	Abnormality of refraction	0	DOHH CL E G H	83475	28662	OMIM:620066
HP:0000539	HP:0000539	Abnormality of refraction	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0000539	HP:0000539	Abnormality of refraction	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0000539	HP:0000539	Abnormality of refraction	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0000539	HP:0000539	Abnormality of refraction	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0000539	HP:0000539	Abnormality of refraction	0	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome			144
HP:0000539	HP:0000539	Abnormality of refraction	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency			144
HP:0000539	HP:0000539	Abnormality of refraction	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			13
HP:0000539	HP:0000539	Abnormality of refraction	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0000539	HP:0000539	Abnormality of refraction	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation			134
HP:0000539	HP:0000539	Abnormality of refraction	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0000539	HP:0000539	Abnormality of refraction	0	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000539	HP:0000539	Abnormality of refraction	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0000539	HP:0000539	Abnormality of refraction	0	EFEMP1 CL E G H	2202	3218	ORPHA:98977	Juvenile glaucoma			54
HP:0000539	HP:0000539	Abnormality of refraction	0	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2			1
HP:0000539	HP:0000539	Abnormality of refraction	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation			223
HP:0000539	HP:0000539	Abnormality of refraction	0	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome			8
HP:0000539	HP:0000539	Abnormality of refraction	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000539	HP:0000539	Abnormality of refraction	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0000539	HP:0000539	Abnormality of refraction	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0000539	HP:0000539	Abnormality of refraction	0	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation			62
HP:0000539	HP:0000539	Abnormality of refraction	0	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia			133
HP:0000539	HP:0000539	Abnormality of refraction	0	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0000539	HP:0000539	Abnormality of refraction	0	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome			5
HP:0000539	HP:0000539	Abnormality of refraction	0	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum			151
HP:0000539	HP:0000539	Abnormality of refraction	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0000539	HP:0000539	Abnormality of refraction	0	EPHA2 CL E G H	1969	3386	OMIM:116600	Cataract, posterior polar, 1 ctpa cataract, congenital total, included			87
HP:0000539	HP:0000539	Abnormality of refraction	0	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0000539	HP:0000539	Abnormality of refraction	0	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2			12
HP:0000539	HP:0000539	Abnormality of refraction	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0000539	HP:0000539	Abnormality of refraction	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0000539	HP:0000539	Abnormality of refraction	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0000539	HP:0000539	Abnormality of refraction	0	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F			158
HP:0000539	HP:0000539	Abnormality of refraction	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0000539	HP:0000539	Abnormality of refraction	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0000539	HP:0000539	Abnormality of refraction	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0000539	HP:0000539	Abnormality of refraction	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0000539	HP:0000539	Abnormality of refraction	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome			36
HP:0000539	HP:0000539	Abnormality of refraction	0	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1			33
HP:0000539	HP:0000539	Abnormality of refraction	0	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0000539	HP:0000539	Abnormality of refraction	0	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0000539	HP:0000539	Abnormality of refraction	0	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome			8
HP:0000539	HP:0000539	Abnormality of refraction	0	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2			8
HP:0000539	HP:0000539	Abnormality of refraction	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0000539	HP:0000539	Abnormality of refraction	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0000539	HP:0000539	Abnormality of refraction	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0000539	HP:0000539	Abnormality of refraction	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0000539	HP:0000539	Abnormality of refraction	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0000539	HP:0000539	Abnormality of refraction	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0000539	HP:0000539	Abnormality of refraction	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0000539	HP:0000539	Abnormality of refraction	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0000539	HP:0000539	Abnormality of refraction	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I			157
HP:0000539	HP:0000539	Abnormality of refraction	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0000539	HP:0000539	Abnormality of refraction	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0000539	HP:0000539	Abnormality of refraction	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0000539	HP:0000539	Abnormality of refraction	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0000539	HP:0000539	Abnormality of refraction	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome			1361
HP:0000539	HP:0000539	Abnormality of refraction	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0000539	HP:0000539	Abnormality of refraction	0	FBN1 CL E G H	2200	3603	OMIM:184900	STIFF SKIN SYNDROME; SSKS			1361
HP:0000539	HP:0000539	Abnormality of refraction	0	FBN1 CL E G H	2200	3603	ORPHA:3449	Weill-Marchesani syndrome			1361
HP:0000539	HP:0000539	Abnormality of refraction	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0000539	HP:0000539	Abnormality of refraction	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0000539	HP:0000539	Abnormality of refraction	0	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities			7
HP:0000539	HP:0000539	Abnormality of refraction	0	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0000539	HP:0000539	Abnormality of refraction	0	FBXW7 CL E G H	55294	16712	OMIM:620012				22
HP:0000539	HP:0000539	Abnormality of refraction	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome			62
HP:0000539	HP:0000539	Abnormality of refraction	0	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia			18
HP:0000539	HP:0000539	Abnormality of refraction	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome			175
HP:0000539	HP:0000539	Abnormality of refraction	0	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans			145
HP:0000539	HP:0000539	Abnormality of refraction	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome			2
HP:0000539	HP:0000539	Abnormality of refraction	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2			13
HP:0000539	HP:0000539	Abnormality of refraction	0	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency			13
HP:0000539	HP:0000539	Abnormality of refraction	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000539	HP:0000539	Abnormality of refraction	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			157
HP:0000539	HP:0000539	Abnormality of refraction	0	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			157
HP:0000539	HP:0000539	Abnormality of refraction	0	FKRP CL E G H	79147	17997	ORPHA:588	Muscle-eye-brain disease			157
HP:0000539	HP:0000539	Abnormality of refraction	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0000539	HP:0000539	Abnormality of refraction	0	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5			157
HP:0000539	HP:0000539	Abnormality of refraction	0	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type			184
HP:0000539	HP:0000539	Abnormality of refraction	0	FKTN CL E G H	2218	3622	ORPHA:588	Muscle-eye-brain disease			184
HP:0000539	HP:0000539	Abnormality of refraction	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0000539	HP:0000539	Abnormality of refraction	0	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4			184
HP:0000539	HP:0000539	Abnormality of refraction	0	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0000539	HP:0000539	Abnormality of refraction	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0000539	HP:0000539	Abnormality of refraction	0	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia			493
HP:0000539	HP:0000539	Abnormality of refraction	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia			493
HP:0000539	HP:0000539	Abnormality of refraction	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			9
HP:0000539	HP:0000539	Abnormality of refraction	0	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis			92
HP:0000539	HP:0000539	Abnormality of refraction	0	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040282 - Frequent		92
HP:0000539	HP:0000539	Abnormality of refraction	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040282 - Frequent		184
HP:0000539	HP:0000539	Abnormality of refraction	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0000539	HP:0000539	Abnormality of refraction	0	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000539	HP:0000539	Abnormality of refraction	0	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18			33
HP:0000539	HP:0000539	Abnormality of refraction	0	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome			33
HP:0000539	HP:0000539	Abnormality of refraction	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0000539	HP:0000539	Abnormality of refraction	0	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive			68
HP:0000539	HP:0000539	Abnormality of refraction	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0000539	HP:0000539	Abnormality of refraction	0	GJA8 CL E G H	2703	4281	ORPHA:1377	Cataract-microcornea syndrome			34
HP:0000539	HP:0000539	Abnormality of refraction	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0000539	HP:0000539	Abnormality of refraction	0	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2			37
HP:0000539	HP:0000539	Abnormality of refraction	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease			45
HP:0000539	HP:0000539	Abnormality of refraction	0	GLRA2 CL E G H	2742	4327	OMIM:301076	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0000539	HP:0000539	Abnormality of refraction	0	GLRB CL E G H	2743	4329	OMIM:614619	Hyperekplexia 2			46
HP:0000539	HP:0000539	Abnormality of refraction	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			34
HP:0000539	HP:0000539	Abnormality of refraction	0	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			34
HP:0000539	HP:0000539	Abnormality of refraction	0	GMPPB CL E G H	29925	22932	ORPHA:588	Muscle-eye-brain disease			34
HP:0000539	HP:0000539	Abnormality of refraction	0	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma	HP:0040283 - Occasional		16
HP:0000539	HP:0000539	Abnormality of refraction	0	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma	HP:0040283 - Occasional		7
HP:0000539	HP:0000539	Abnormality of refraction	0	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness			39
HP:0000539	HP:0000539	Abnormality of refraction	0	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		19
HP:0000539	HP:0000539	Abnormality of refraction	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000539	HP:0000539	Abnormality of refraction	0	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness			5
HP:0000539	HP:0000539	Abnormality of refraction	0	GNB3 CL E G H	2784	4400	OMIM:617024	Night blindness, congenital stationary, type 1H			5
HP:0000539	HP:0000539	Abnormality of refraction	0	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta			240
HP:0000539	HP:0000539	Abnormality of refraction	0	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma			57
HP:0000539	HP:0000539	Abnormality of refraction	0	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0000539	HP:0000539	Abnormality of refraction	0	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
HP:0000539	HP:0000539	Abnormality of refraction	0	GPR143 CL E G H	4935	20145	OMIM:300814	Nystagmus 6, congenital, X-linked			64
HP:0000539	HP:0000539	Abnormality of refraction	0	GPR143 CL E G H	4935	20145	ORPHA:54	X-linked recessive ocular albinism			64
HP:0000539	HP:0000539	Abnormality of refraction	0	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness			124
HP:0000539	HP:0000539	Abnormality of refraction	0	GPR179 CL E G H	440435	31371	OMIM:614565	Night blindness, congenital stationary, type 1E			124
HP:0000539	HP:0000539	Abnormality of refraction	0	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy			33
HP:0000539	HP:0000539	Abnormality of refraction	0	GRIA1 CL E G H	2890	4571	OMIM:619927				3
HP:0000539	HP:0000539	Abnormality of refraction	0	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness			4
HP:0000539	HP:0000539	Abnormality of refraction	0	GRK1 CL E G H	6011	10013	ORPHA:75382	Oguchi disease	HP:0040283 - Occasional		4
HP:0000539	HP:0000539	Abnormality of refraction	0	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness			63
HP:0000539	HP:0000539	Abnormality of refraction	0	GRM6 CL E G H	2916	4598	OMIM:257270	Night blindness, congenital stationary, type 1B			63
HP:0000539	HP:0000539	Abnormality of refraction	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0000539	HP:0000539	Abnormality of refraction	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0000539	HP:0000539	Abnormality of refraction	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0000539	HP:0000539	Abnormality of refraction	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0000539	HP:0000539	Abnormality of refraction	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0000539	HP:0000539	Abnormality of refraction	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0000539	HP:0000539	Abnormality of refraction	0	GZF1 CL E G H	64412	15808	OMIM:617662	Joint laxity, short stature, and myopia
HP:0000539	HP:0000539	Abnormality of refraction	0	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0000539	HP:0000539	Abnormality of refraction	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000539	HP:0000539	Abnormality of refraction	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000539	HP:0000539	Abnormality of refraction	0	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures			10
HP:0000539	HP:0000539	Abnormality of refraction	0	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome			10
HP:0000539	HP:0000539	Abnormality of refraction	0	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency			99
HP:0000539	HP:0000539	Abnormality of refraction	0	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3
HP:0000539	HP:0000539	Abnormality of refraction	0	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7			11
HP:0000539	HP:0000539	Abnormality of refraction	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0000539	HP:0000539	Abnormality of refraction	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0000539	HP:0000539	Abnormality of refraction	0	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0000539	HP:0000539	Abnormality of refraction	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome			16
HP:0000539	HP:0000539	Abnormality of refraction	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0000539	HP:0000539	Abnormality of refraction	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0000539	HP:0000539	Abnormality of refraction	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0000539	HP:0000539	Abnormality of refraction	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion			8
HP:0000539	HP:0000539	Abnormality of refraction	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation			8
HP:0000539	HP:0000539	Abnormality of refraction	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0000539	HP:0000539	Abnormality of refraction	0	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome
HP:0000539	HP:0000539	Abnormality of refraction	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0000539	HP:0000539	Abnormality of refraction	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0000539	HP:0000539	Abnormality of refraction	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0000539	HP:0000539	Abnormality of refraction	0	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome			12
HP:0000539	HP:0000539	Abnormality of refraction	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0000539	HP:0000539	Abnormality of refraction	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0000539	HP:0000539	Abnormality of refraction	0	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0000539	HP:0000539	Abnormality of refraction	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0000539	HP:0000539	Abnormality of refraction	0	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia			93
HP:0000539	HP:0000539	Abnormality of refraction	0	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0000539	HP:0000539	Abnormality of refraction	0	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia			11
HP:0000539	HP:0000539	Abnormality of refraction	0	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia			4
HP:0000539	HP:0000539	Abnormality of refraction	0	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly			4
HP:0000539	HP:0000539	Abnormality of refraction	0	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0000539	HP:0000539	Abnormality of refraction	0	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000539	HP:0000539	Abnormality of refraction	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000539	HP:0000539	Abnormality of refraction	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0000539	HP:0000539	Abnormality of refraction	0	IQSEC2 CL E G H	23096	29059	OMIM:309530	Mental retardation, X-linked 1			119
HP:0000539	HP:0000539	Abnormality of refraction	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0000539	HP:0000539	Abnormality of refraction	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0000539	HP:0000539	Abnormality of refraction	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0000539	HP:0000539	Abnormality of refraction	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0000539	HP:0000539	Abnormality of refraction	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0000539	HP:0000539	Abnormality of refraction	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0000539	HP:0000539	Abnormality of refraction	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0000539	HP:0000539	Abnormality of refraction	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000539	HP:0000539	Abnormality of refraction	0	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0000539	HP:0000539	Abnormality of refraction	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0000539	HP:0000539	Abnormality of refraction	0	KCNE5 CL E G H	23630	6241	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			5
HP:0000539	HP:0000539	Abnormality of refraction	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0000539	HP:0000539	Abnormality of refraction	0	KCNV2 CL E G H	169522	19698	OMIM:610356	Retinal cone dystrophy 3B			73
HP:0000539	HP:0000539	Abnormality of refraction	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0000539	HP:0000539	Abnormality of refraction	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0000539	HP:0000539	Abnormality of refraction	0	KERA CL E G H	11081	6309	OMIM:217300	Cornea plana 2			8
HP:0000539	HP:0000539	Abnormality of refraction	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0000539	HP:0000539	Abnormality of refraction	0	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38			4
HP:0000539	HP:0000539	Abnormality of refraction	0	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0000539	HP:0000539	Abnormality of refraction	0	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome			4
HP:0000539	HP:0000539	Abnormality of refraction	0	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation			46
HP:0000539	HP:0000539	Abnormality of refraction	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome			46
HP:0000539	HP:0000539	Abnormality of refraction	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome			1
HP:0000539	HP:0000539	Abnormality of refraction	0	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0000539	HP:0000539	Abnormality of refraction	0	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset			11
HP:0000539	HP:0000539	Abnormality of refraction	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation			99
HP:0000539	HP:0000539	Abnormality of refraction	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0000539	HP:0000539	Abnormality of refraction	0	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2			196
HP:0000539	HP:0000539	Abnormality of refraction	0	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome			196
HP:0000539	HP:0000539	Abnormality of refraction	0	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			110
HP:0000539	HP:0000539	Abnormality of refraction	0	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			173
HP:0000539	HP:0000539	Abnormality of refraction	0	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome			35
HP:0000539	HP:0000539	Abnormality of refraction	0	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome			35
HP:0000539	HP:0000539	Abnormality of refraction	0	LAMB2 CL E G H	3913	6487	OMIM:614199	Nephrotic syndrome, type 5, with or without ocular abnormalities			92
HP:0000539	HP:0000539	Abnormality of refraction	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome			92
HP:0000539	HP:0000539	Abnormality of refraction	0	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			136
HP:0000539	HP:0000539	Abnormality of refraction	0	LARGE1 CL E G H	9215	6511	ORPHA:588	Muscle-eye-brain disease			136
HP:0000539	HP:0000539	Abnormality of refraction	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0000539	HP:0000539	Abnormality of refraction	0	LCA5 CL E G H	167691	31923	OMIM:604537	Leber congenital amaurosis 5			70
HP:0000539	HP:0000539	Abnormality of refraction	0	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			70
HP:0000539	HP:0000539	Abnormality of refraction	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0000539	HP:0000539	Abnormality of refraction	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000539	HP:0000539	Abnormality of refraction	0	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000539	HP:0000539	Abnormality of refraction	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			165
HP:0000539	HP:0000539	Abnormality of refraction	0	LOC111365204 CL E G H	111365204		OMIM:600790	Chorioretinal atrophy, progressive bifocal
HP:0000539	HP:0000539	Abnormality of refraction	0	LOX CL E G H	4015	6664	OMIM:617168	Aortic aneurysm, familial thoracic 10			6
HP:0000539	HP:0000539	Abnormality of refraction	0	LOXL3 CL E G H	84695	13869	ORPHA:250984	Autosomal recessive Stickler syndrome			4
HP:0000539	HP:0000539	Abnormality of refraction	0	LOXL3 CL E G H	84695	13869	OMIM:619781	MYOPIA 28, AUTOSOMAL RECESSIVE; MYP28			4
HP:0000539	HP:0000539	Abnormality of refraction	0	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			62
HP:0000539	HP:0000539	Abnormality of refraction	0	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness			54
HP:0000539	HP:0000539	Abnormality of refraction	0	LRIT3 CL E G H	345193	24783	OMIM:615058	Night blindness, congenital stationary, type 1F			54
HP:0000539	HP:0000539	Abnormality of refraction	0	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome			289
HP:0000539	HP:0000539	Abnormality of refraction	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0000539	HP:0000539	Abnormality of refraction	0	LRPAP1 CL E G H	4043	6701	OMIM:615431	Myopia 23, autosomal recessive			4
HP:0000539	HP:0000539	Abnormality of refraction	0	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0000539	HP:0000539	Abnormality of refraction	0	LTBP2 CL E G H	4053	6715	OMIM:251750	Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma			123
HP:0000539	HP:0000539	Abnormality of refraction	0	LTBP2 CL E G H	4053	6715	ORPHA:3449	Weill-Marchesani syndrome			123
HP:0000539	HP:0000539	Abnormality of refraction	0	LTBP2 CL E G H	4053	6715	OMIM:614819	Weill-Marchesani syndrome 3			123
HP:0000539	HP:0000539	Abnormality of refraction	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0000539	HP:0000539	Abnormality of refraction	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0000539	HP:0000539	Abnormality of refraction	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0000539	HP:0000539	Abnormality of refraction	0	MAF CL E G H	4094	6776	OMIM:610202	Cataract 21, multiple types			21
HP:0000539	HP:0000539	Abnormality of refraction	0	MAF CL E G H	4094	6776	ORPHA:1377	Cataract-microcornea syndrome			21
HP:0000539	HP:0000539	Abnormality of refraction	0	MAG CL E G H	4099	6783	ORPHA:459056	Autosomal recessive spastic paraplegia type 75			4
HP:0000539	HP:0000539	Abnormality of refraction	0	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive			4
HP:0000539	HP:0000539	Abnormality of refraction	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0000539	HP:0000539	Abnormality of refraction	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0000539	HP:0000539	Abnormality of refraction	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0000539	HP:0000539	Abnormality of refraction	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG			93
HP:0000539	HP:0000539	Abnormality of refraction	0	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form			136
HP:0000539	HP:0000539	Abnormality of refraction	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0000539	HP:0000539	Abnormality of refraction	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0000539	HP:0000539	Abnormality of refraction	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0000539	HP:0000539	Abnormality of refraction	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0000539	HP:0000539	Abnormality of refraction	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0000539	HP:0000539	Abnormality of refraction	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia			11
HP:0000539	HP:0000539	Abnormality of refraction	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0000539	HP:0000539	Abnormality of refraction	0	MARK3 CL E G H	4140	6897	OMIM:618283	Visual impairment and progressive phthisis bulbi
HP:0000539	HP:0000539	Abnormality of refraction	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0000539	HP:0000539	Abnormality of refraction	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0000539	HP:0000539	Abnormality of refraction	0	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II			124
HP:0000539	HP:0000539	Abnormality of refraction	0	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent		124
HP:0000539	HP:0000539	Abnormality of refraction	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0000539	HP:0000539	Abnormality of refraction	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000539	HP:0000539	Abnormality of refraction	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0000539	HP:0000539	Abnormality of refraction	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0000539	HP:0000539	Abnormality of refraction	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0000539	HP:0000539	Abnormality of refraction	0	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5			26
HP:0000539	HP:0000539	Abnormality of refraction	0	MFRP CL E G H	83552	18121	ORPHA:35612	Nanophthalmos			26
HP:0000539	HP:0000539	Abnormality of refraction	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040284 - Very rare		57
HP:0000539	HP:0000539	Abnormality of refraction	0	MIR184 CL E G H	406960	31555	OMIM:614303	Edict syndrome			1
HP:0000539	HP:0000539	Abnormality of refraction	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0000539	HP:0000539	Abnormality of refraction	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0000539	HP:0000539	Abnormality of refraction	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0000539	HP:0000539	Abnormality of refraction	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0000539	HP:0000539	Abnormality of refraction	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0000539	HP:0000539	Abnormality of refraction	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0000539	HP:0000539	Abnormality of refraction	0	MSX2 CL E G H	4488	7392	OMIM:604757	Craniosynostosis 2			45
HP:0000539	HP:0000539	Abnormality of refraction	0	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0000539	HP:0000539	Abnormality of refraction	0	MYO5A CL E G H	4644	7602	ORPHA:33445	Neuroectodermal melanolysosomal disease			35
HP:0000539	HP:0000539	Abnormality of refraction	0	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1			516
HP:0000539	HP:0000539	Abnormality of refraction	0	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2			516
HP:0000539	HP:0000539	Abnormality of refraction	0	MYOC CL E G H	4653	7610	OMIM:137750	Glaucoma 1, open angle, A			47
HP:0000539	HP:0000539	Abnormality of refraction	0	MYOC CL E G H	4653	7610	ORPHA:98977	Juvenile glaucoma			47
HP:0000539	HP:0000539	Abnormality of refraction	0	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly			25
HP:0000539	HP:0000539	Abnormality of refraction	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0000539	HP:0000539	Abnormality of refraction	0	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked			39
HP:0000539	HP:0000539	Abnormality of refraction	0	NDUFB11 CL E G H	54539	20372	OMIM:300952	Linear skin defects with multiple congenital anomalies 3			3
HP:0000539	HP:0000539	Abnormality of refraction	0	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7			3
HP:0000539	HP:0000539	Abnormality of refraction	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly			101
HP:0000539	HP:0000539	Abnormality of refraction	0	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72
HP:0000539	HP:0000539	Abnormality of refraction	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0000539	HP:0000539	Abnormality of refraction	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0000539	HP:0000539	Abnormality of refraction	0	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2			40
HP:0000539	HP:0000539	Abnormality of refraction	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0000539	HP:0000539	Abnormality of refraction	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0000539	HP:0000539	Abnormality of refraction	0	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9			15
HP:0000539	HP:0000539	Abnormality of refraction	0	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0000539	HP:0000539	Abnormality of refraction	0	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2			22
HP:0000539	HP:0000539	Abnormality of refraction	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1			22
HP:0000539	HP:0000539	Abnormality of refraction	0	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes			22
HP:0000539	HP:0000539	Abnormality of refraction	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0000539	HP:0000539	Abnormality of refraction	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0000539	HP:0000539	Abnormality of refraction	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0000539	HP:0000539	Abnormality of refraction	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0000539	HP:0000539	Abnormality of refraction	0	NPR3 CL E G H	4883	7945	OMIM:619543	BOUDIN-MORTIER SYNDROME; BOMOS
HP:0000539	HP:0000539	Abnormality of refraction	0	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome			37
HP:0000539	HP:0000539	Abnormality of refraction	0	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0000539	HP:0000539	Abnormality of refraction	0	NSD1 CL E G H	64324	14234	ORPHA:228415	5q35 microduplication syndrome			544
HP:0000539	HP:0000539	Abnormality of refraction	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0000539	HP:0000539	Abnormality of refraction	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0000539	HP:0000539	Abnormality of refraction	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0000539	HP:0000539	Abnormality of refraction	0	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45			15
HP:0000539	HP:0000539	Abnormality of refraction	0	NT5C2 CL E G H	22978	8022	OMIM:613162	Spastic paraplegia 45, autosomal recessive			15
HP:0000539	HP:0000539	Abnormality of refraction	0	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness			42
HP:0000539	HP:0000539	Abnormality of refraction	0	NYX CL E G H	60506	8082	OMIM:310500	Night blindness, congenital stationary, type 1A			42
HP:0000539	HP:0000539	Abnormality of refraction	0	OAT CL E G H	4942	8091	ORPHA:414	Gyrate atrophy of choroid and retina			94
HP:0000539	HP:0000539	Abnormality of refraction	0	OAT CL E G H	4942	8091	OMIM:258870	Ornithine aminotransferase deficiency			94
HP:0000539	HP:0000539	Abnormality of refraction	0	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II			121
HP:0000539	HP:0000539	Abnormality of refraction	0	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent		121
HP:0000539	HP:0000539	Abnormality of refraction	0	OFD1 CL E G H	8481	2567	OMIM:300424	Retinitis pigmentosa 23			201
HP:0000539	HP:0000539	Abnormality of refraction	0	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0000539	HP:0000539	Abnormality of refraction	0	OPN1LW CL E G H	5956	9936	OMIM:303700	Blue cone monochromacy			7
HP:0000539	HP:0000539	Abnormality of refraction	0	OPN1MW CL E G H	2652	4206	OMIM:303700	Blue cone monochromacy			5
HP:0000539	HP:0000539	Abnormality of refraction	0	OPTN CL E G H	10133	17142	OMIM:137760	Glaucoma, primary open angle			62
HP:0000539	HP:0000539	Abnormality of refraction	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000539	HP:0000539	Abnormality of refraction	0	OTX2 CL E G H	5015	8522	ORPHA:35612	Nanophthalmos			41
HP:0000539	HP:0000539	Abnormality of refraction	0	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy			4
HP:0000539	HP:0000539	Abnormality of refraction	0	P3H2 CL E G H	55214	19317	OMIM:614292	Myopia, high, with cataract and vitreoretinal degeneration			5
HP:0000539	HP:0000539	Abnormality of refraction	0	P4HA2 CL E G H	8974	8547	OMIM:617238	Myopia 25, autosomal dominant			3
HP:0000539	HP:0000539	Abnormality of refraction	0	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0000539	HP:0000539	Abnormality of refraction	0	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0000539	HP:0000539	Abnormality of refraction	0	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66
HP:0000539	HP:0000539	Abnormality of refraction	0	PAK2 CL E G H	5062	8591	OMIM:618458
HP:0000539	HP:0000539	Abnormality of refraction	0	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome
HP:0000539	HP:0000539	Abnormality of refraction	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0000539	HP:0000539	Abnormality of refraction	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome			39
HP:0000539	HP:0000539	Abnormality of refraction	0	PAX2 CL E G H	5076	8616	ORPHA:1475	Renal coloboma syndrome			39
HP:0000539	HP:0000539	Abnormality of refraction	0	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral			39
HP:0000539	HP:0000539	Abnormality of refraction	0	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis	HP:0040282 - Frequent		194
HP:0000539	HP:0000539	Abnormality of refraction	0	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral			3
HP:0000539	HP:0000539	Abnormality of refraction	0	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1			352
HP:0000539	HP:0000539	Abnormality of refraction	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0000539	HP:0000539	Abnormality of refraction	0	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	HP:0040282 - Frequent		11
HP:0000539	HP:0000539	Abnormality of refraction	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome			113
HP:0000539	HP:0000539	Abnormality of refraction	0	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness			126
HP:0000539	HP:0000539	Abnormality of refraction	0	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		80
HP:0000539	HP:0000539	Abnormality of refraction	0	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		14
HP:0000539	HP:0000539	Abnormality of refraction	0	PDE6H CL E G H	5149	8790	OMIM:610024	Retinal cone dystrophy 3A			14
HP:0000539	HP:0000539	Abnormality of refraction	0	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type			28
HP:0000539	HP:0000539	Abnormality of refraction	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0000539	HP:0000539	Abnormality of refraction	0	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2			40
HP:0000539	HP:0000539	Abnormality of refraction	0	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0000539	HP:0000539	Abnormality of refraction	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			8
HP:0000539	HP:0000539	Abnormality of refraction	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			20
HP:0000539	HP:0000539	Abnormality of refraction	0	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features			11
HP:0000539	HP:0000539	Abnormality of refraction	0	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome			11
HP:0000539	HP:0000539	Abnormality of refraction	0	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5			77
HP:0000539	HP:0000539	Abnormality of refraction	0	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome			7
HP:0000539	HP:0000539	Abnormality of refraction	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			36
HP:0000539	HP:0000539	Abnormality of refraction	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			84
HP:0000539	HP:0000539	Abnormality of refraction	0	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4			3
HP:0000539	HP:0000539	Abnormality of refraction	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0000539	HP:0000539	Abnormality of refraction	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3			12
HP:0000539	HP:0000539	Abnormality of refraction	0	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000539	HP:0000539	Abnormality of refraction	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			57
HP:0000539	HP:0000539	Abnormality of refraction	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			6
HP:0000539	HP:0000539	Abnormality of refraction	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			2
HP:0000539	HP:0000539	Abnormality of refraction	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome			162
HP:0000539	HP:0000539	Abnormality of refraction	0	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5			162
HP:0000539	HP:0000539	Abnormality of refraction	0	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome			43
HP:0000539	HP:0000539	Abnormality of refraction	0	PITX2 CL E G H	5308	9005	OMIM:180550	Ring dermoid of cornea			51
HP:0000539	HP:0000539	Abnormality of refraction	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1			105
HP:0000539	HP:0000539	Abnormality of refraction	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency			105
HP:0000539	HP:0000539	Abnormality of refraction	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0000539	HP:0000539	Abnormality of refraction	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0000539	HP:0000539	Abnormality of refraction	0	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20			3
HP:0000539	HP:0000539	Abnormality of refraction	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0000539	HP:0000539	Abnormality of refraction	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0000539	HP:0000539	Abnormality of refraction	0	POLR1C CL E G H	9533	20194	OMIM:616494	Leukodystrophy, hypomyelinating, 11			38
HP:0000539	HP:0000539	Abnormality of refraction	0	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			138
HP:0000539	HP:0000539	Abnormality of refraction	0	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome			138
HP:0000539	HP:0000539	Abnormality of refraction	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0000539	HP:0000539	Abnormality of refraction	0	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			67
HP:0000539	HP:0000539	Abnormality of refraction	0	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism			67
HP:0000539	HP:0000539	Abnormality of refraction	0	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0000539	HP:0000539	Abnormality of refraction	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			180
HP:0000539	HP:0000539	Abnormality of refraction	0	POMGNT1 CL E G H	55624	19139	ORPHA:588	Muscle-eye-brain disease			180
HP:0000539	HP:0000539	Abnormality of refraction	0	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3			180
HP:0000539	HP:0000539	Abnormality of refraction	0	POMGNT1 CL E G H	55624	19139	OMIM:613151	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3			180
HP:0000539	HP:0000539	Abnormality of refraction	0	POMGNT1 CL E G H	55624	19139	OMIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3			180
HP:0000539	HP:0000539	Abnormality of refraction	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			18
HP:0000539	HP:0000539	Abnormality of refraction	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			213
HP:0000539	HP:0000539	Abnormality of refraction	0	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			213
HP:0000539	HP:0000539	Abnormality of refraction	0	POMT1 CL E G H	10585	9202	ORPHA:588	Muscle-eye-brain disease			213
HP:0000539	HP:0000539	Abnormality of refraction	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0000539	HP:0000539	Abnormality of refraction	0	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1			213
HP:0000539	HP:0000539	Abnormality of refraction	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			221
HP:0000539	HP:0000539	Abnormality of refraction	0	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			221
HP:0000539	HP:0000539	Abnormality of refraction	0	POMT2 CL E G H	29954	19743	ORPHA:588	Muscle-eye-brain disease			221
HP:0000539	HP:0000539	Abnormality of refraction	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0000539	HP:0000539	Abnormality of refraction	0	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2			221
HP:0000539	HP:0000539	Abnormality of refraction	0	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2			221
HP:0000539	HP:0000539	Abnormality of refraction	0	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold			22
HP:0000539	HP:0000539	Abnormality of refraction	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000539	HP:0000539	Abnormality of refraction	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000539	HP:0000539	Abnormality of refraction	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0000539	HP:0000539	Abnormality of refraction	0	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35			10
HP:0000539	HP:0000539	Abnormality of refraction	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0000539	HP:0000539	Abnormality of refraction	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0000539	HP:0000539	Abnormality of refraction	0	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome			58
HP:0000539	HP:0000539	Abnormality of refraction	0	PRDM5 CL E G H	11107	9349	OMIM:614170	Brittle cornea syndrome 2			58
HP:0000539	HP:0000539	Abnormality of refraction	0	PRIMPOL CL E G H	201973	26575	OMIM:615420	Myopia 22, autosomal dominant			1
HP:0000539	HP:0000539	Abnormality of refraction	0	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0000539	HP:0000539	Abnormality of refraction	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0000539	HP:0000539	Abnormality of refraction	0	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures			6
HP:0000539	HP:0000539	Abnormality of refraction	0	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity			49
HP:0000539	HP:0000539	Abnormality of refraction	0	PRPS1 CL E G H	5631	9462	ORPHA:411543	Severe phosphoribosylpyrophosphate synthetase superactivity			49
HP:0000539	HP:0000539	Abnormality of refraction	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0000539	HP:0000539	Abnormality of refraction	0	PRSS56 CL E G H	646960	39433	OMIM:613517	Microphthalmia, isolated 6			11
HP:0000539	HP:0000539	Abnormality of refraction	0	PRSS56 CL E G H	646960	39433	ORPHA:35612	Nanophthalmos			11
HP:0000539	HP:0000539	Abnormality of refraction	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0000539	HP:0000539	Abnormality of refraction	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome			948
HP:0000539	HP:0000539	Abnormality of refraction	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1			948
HP:0000539	HP:0000539	Abnormality of refraction	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0000539	HP:0000539	Abnormality of refraction	0	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome			948
HP:0000539	HP:0000539	Abnormality of refraction	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0000539	HP:0000539	Abnormality of refraction	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0000539	HP:0000539	Abnormality of refraction	0	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation			53
HP:0000539	HP:0000539	Abnormality of refraction	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0000539	HP:0000539	Abnormality of refraction	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0000539	HP:0000539	Abnormality of refraction	0	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
HP:0000539	HP:0000539	Abnormality of refraction	0	RAB28 CL E G H	9364	9768	OMIM:615374	Cone-Rod dystrophy 18			6
HP:0000539	HP:0000539	Abnormality of refraction	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0000539	HP:0000539	Abnormality of refraction	0	RAD50 CL E G H	10111	9816	OMIM:613078	NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD			789
HP:0000539	HP:0000539	Abnormality of refraction	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0000539	HP:0000539	Abnormality of refraction	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0000539	HP:0000539	Abnormality of refraction	0	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome			150
HP:0000539	HP:0000539	Abnormality of refraction	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0000539	HP:0000539	Abnormality of refraction	0	RAX CL E G H	30062	18662	ORPHA:35612	Nanophthalmos			43
HP:0000539	HP:0000539	Abnormality of refraction	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome			16
HP:0000539	HP:0000539	Abnormality of refraction	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome			445
HP:0000539	HP:0000539	Abnormality of refraction	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0000539	HP:0000539	Abnormality of refraction	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome			16
HP:0000539	HP:0000539	Abnormality of refraction	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000539	HP:0000539	Abnormality of refraction	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0000539	HP:0000539	Abnormality of refraction	0	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness			107
HP:0000539	HP:0000539	Abnormality of refraction	0	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB			8
HP:0000539	HP:0000539	Abnormality of refraction	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome			43
HP:0000539	HP:0000539	Abnormality of refraction	0	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome			43
HP:0000539	HP:0000539	Abnormality of refraction	0	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy	HP:0040282 - Frequent		47
HP:0000539	HP:0000539	Abnormality of refraction	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0000539	HP:0000539	Abnormality of refraction	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0000539	HP:0000539	Abnormality of refraction	0	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0000539	HP:0000539	Abnormality of refraction	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:1824	Lowry-Wood syndrome			15
HP:0000539	HP:0000539	Abnormality of refraction	0	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1			90
HP:0000539	HP:0000539	Abnormality of refraction	0	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA			1
HP:0000539	HP:0000539	Abnormality of refraction	0	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1			111
HP:0000539	HP:0000539	Abnormality of refraction	0	RP2 CL E G H	6102	10274	OMIM:312600	Retinitis pigmentosa 2, X-linked			45
HP:0000539	HP:0000539	Abnormality of refraction	0	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			129
HP:0000539	HP:0000539	Abnormality of refraction	0	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		200
HP:0000539	HP:0000539	Abnormality of refraction	0	RPGR CL E G H	6103	10295	OMIM:304020	Cone-rod dystrophy, X-linked, 1			200
HP:0000539	HP:0000539	Abnormality of refraction	0	RPGR CL E G H	6103	10295	OMIM:300029	Retinitis pigmentosa 3			200
HP:0000539	HP:0000539	Abnormality of refraction	0	RPGRIP1 CL E G H	57096	13436	OMIM:613826	Leber congenital amaurosis 6			109
HP:0000539	HP:0000539	Abnormality of refraction	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0000539	HP:0000539	Abnormality of refraction	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0000539	HP:0000539	Abnormality of refraction	0	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0000539	HP:0000539	Abnormality of refraction	0	RS1 CL E G H	6247	10457	OMIM:312700	Retinoschisis 1, X-linked, juvenile			148
HP:0000539	HP:0000539	Abnormality of refraction	0	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness			32
HP:0000539	HP:0000539	Abnormality of refraction	0	SAG CL E G H	6295	10521	ORPHA:75382	Oguchi disease	HP:0040283 - Occasional		32
HP:0000539	HP:0000539	Abnormality of refraction	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000539	HP:0000539	Abnormality of refraction	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0000539	HP:0000539	Abnormality of refraction	0	SCO2 CL E G H	9997	10604	OMIM:608908	Myopia 6			40
HP:0000539	HP:0000539	Abnormality of refraction	0	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2			1
HP:0000539	HP:0000539	Abnormality of refraction	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome			237
HP:0000539	HP:0000539	Abnormality of refraction	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome			147
HP:0000539	HP:0000539	Abnormality of refraction	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome			129
HP:0000539	HP:0000539	Abnormality of refraction	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome			60
HP:0000539	HP:0000539	Abnormality of refraction	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0000539	HP:0000539	Abnormality of refraction	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0000539	HP:0000539	Abnormality of refraction	0	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency			43
HP:0000539	HP:0000539	Abnormality of refraction	0	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0000539	HP:0000539	Abnormality of refraction	0	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma	HP:0040283 - Occasional		19
HP:0000539	HP:0000539	Abnormality of refraction	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3			53
HP:0000539	HP:0000539	Abnormality of refraction	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0000539	HP:0000539	Abnormality of refraction	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000539	HP:0000539	Abnormality of refraction	0	SIX6 CL E G H	4990	10892	ORPHA:35612	Nanophthalmos			20
HP:0000539	HP:0000539	Abnormality of refraction	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0000539	HP:0000539	Abnormality of refraction	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0000539	HP:0000539	Abnormality of refraction	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0000539	HP:0000539	Abnormality of refraction	0	SLC12A6 CL E G H	9990	10914	ORPHA:1496	Corpus callosum agenesis-neuronopathy syndrome			163
HP:0000539	HP:0000539	Abnormality of refraction	0	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness			66
HP:0000539	HP:0000539	Abnormality of refraction	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0000539	HP:0000539	Abnormality of refraction	0	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0000539	HP:0000539	Abnormality of refraction	0	SLC25A4 CL E G H	291	10990	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome			68
HP:0000539	HP:0000539	Abnormality of refraction	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome			178
HP:0000539	HP:0000539	Abnormality of refraction	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0000539	HP:0000539	Abnormality of refraction	0	SLC39A5 CL E G H	283375	20502	OMIM:615946	Myopia 24, autosomal dominant			2
HP:0000539	HP:0000539	Abnormality of refraction	0	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN			11
HP:0000539	HP:0000539	Abnormality of refraction	0	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0000539	HP:0000539	Abnormality of refraction	0	SLC4A11 CL E G H	83959	16438	ORPHA:293603	Congenital hereditary endothelial dystrophy type II			66
HP:0000539	HP:0000539	Abnormality of refraction	0	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0000539	HP:0000539	Abnormality of refraction	0	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked			122
HP:0000539	HP:0000539	Abnormality of refraction	0	SLITRK6 CL E G H	84189	23503	OMIM:221200	Deafness and myopia			4
HP:0000539	HP:0000539	Abnormality of refraction	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0000539	HP:0000539	Abnormality of refraction	0	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome			504
HP:0000539	HP:0000539	Abnormality of refraction	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0000539	HP:0000539	Abnormality of refraction	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0000539	HP:0000539	Abnormality of refraction	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type			74
HP:0000539	HP:0000539	Abnormality of refraction	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0000539	HP:0000539	Abnormality of refraction	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0000539	HP:0000539	Abnormality of refraction	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0000539	HP:0000539	Abnormality of refraction	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0000539	HP:0000539	Abnormality of refraction	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0000539	HP:0000539	Abnormality of refraction	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0000539	HP:0000539	Abnormality of refraction	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0000539	HP:0000539	Abnormality of refraction	0	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000539	HP:0000539	Abnormality of refraction	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type			19
HP:0000539	HP:0000539	Abnormality of refraction	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0000539	HP:0000539	Abnormality of refraction	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0000539	HP:0000539	Abnormality of refraction	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0000539	HP:0000539	Abnormality of refraction	0	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0000539	HP:0000539	Abnormality of refraction	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0000539	HP:0000539	Abnormality of refraction	0	SOBP CL E G H	55084	29256	OMIM:613671	Mental retardation, anterior maxillary protrusion, and strabismus			29
HP:0000539	HP:0000539	Abnormality of refraction	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0000539	HP:0000539	Abnormality of refraction	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0000539	HP:0000539	Abnormality of refraction	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0000539	HP:0000539	Abnormality of refraction	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0000539	HP:0000539	Abnormality of refraction	0	SOX2 CL E G H	6657	11195	ORPHA:35612	Nanophthalmos			33
HP:0000539	HP:0000539	Abnormality of refraction	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0000539	HP:0000539	Abnormality of refraction	0	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency			11
HP:0000539	HP:0000539	Abnormality of refraction	0	SOX5 CL E G H	6660	11201	OMIM:616803	Lamb-Shaffer syndrome			11
HP:0000539	HP:0000539	Abnormality of refraction	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0000539	HP:0000539	Abnormality of refraction	0	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			48
HP:0000539	HP:0000539	Abnormality of refraction	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0000539	HP:0000539	Abnormality of refraction	0	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA			138
HP:0000539	HP:0000539	Abnormality of refraction	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0000539	HP:0000539	Abnormality of refraction	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0000539	HP:0000539	Abnormality of refraction	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000539	HP:0000539	Abnormality of refraction	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			237
HP:0000539	HP:0000539	Abnormality of refraction	0	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type			1129
HP:0000539	HP:0000539	Abnormality of refraction	0	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0000539	HP:0000539	Abnormality of refraction	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0000539	HP:0000539	Abnormality of refraction	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0000539	HP:0000539	Abnormality of refraction	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000539	HP:0000539	Abnormality of refraction	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0000539	HP:0000539	Abnormality of refraction	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000539	HP:0000539	Abnormality of refraction	0	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11
HP:0000539	HP:0000539	Abnormality of refraction	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0000539	HP:0000539	Abnormality of refraction	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0000539	HP:0000539	Abnormality of refraction	0	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
HP:0000539	HP:0000539	Abnormality of refraction	0	TBC1D7 CL E G H	51256	21066	OMIM:248000	Macrocephaly/megalencephaly syndrome, autosomal recessive			4
HP:0000539	HP:0000539	Abnormality of refraction	0	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome			52
HP:0000539	HP:0000539	Abnormality of refraction	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000539	HP:0000539	Abnormality of refraction	0	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities			1
HP:0000539	HP:0000539	Abnormality of refraction	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0000539	HP:0000539	Abnormality of refraction	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome			241
HP:0000539	HP:0000539	Abnormality of refraction	0	TCTN2 CL E G H	79867	25774	OMIM:616654	Joubert syndrome 24			76
HP:0000539	HP:0000539	Abnormality of refraction	0	TEAD1 CL E G H	7003	11714	OMIM:108985	Sveinsson chorioretinal atrophy			1
HP:0000539	HP:0000539	Abnormality of refraction	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0000539	HP:0000539	Abnormality of refraction	0	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome			104
HP:0000539	HP:0000539	Abnormality of refraction	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000539	HP:0000539	Abnormality of refraction	0	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I			58
HP:0000539	HP:0000539	Abnormality of refraction	0	TGFBI CL E G H	7045	11771	ORPHA:98960	Thiel-Behnke corneal dystrophy			58
HP:0000539	HP:0000539	Abnormality of refraction	0	TGM5 CL E G H	9333	11781	ORPHA:263534	Acral peeling skin syndrome			44
HP:0000539	HP:0000539	Abnormality of refraction	0	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0000539	HP:0000539	Abnormality of refraction	0	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome			1
HP:0000539	HP:0000539	Abnormality of refraction	0	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome			15
HP:0000539	HP:0000539	Abnormality of refraction	0	TKFC CL E G H	26007	24552	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
HP:0000539	HP:0000539	Abnormality of refraction	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0000539	HP:0000539	Abnormality of refraction	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000539	HP:0000539	Abnormality of refraction	0	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0000539	HP:0000539	Abnormality of refraction	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0000539	HP:0000539	Abnormality of refraction	0	TMEM98 CL E G H	26022	24529	ORPHA:35612	Nanophthalmos			3
HP:0000539	HP:0000539	Abnormality of refraction	0	TMEM98 CL E G H	26022	24529	OMIM:615972	Nanophthalmos 4			3
HP:0000539	HP:0000539	Abnormality of refraction	0	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000539	HP:0000539	Abnormality of refraction	0	TRAPPC11 CL E G H	60684	25751	ORPHA:369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome			27
HP:0000539	HP:0000539	Abnormality of refraction	0	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18			27
HP:0000539	HP:0000539	Abnormality of refraction	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0000539	HP:0000539	Abnormality of refraction	0	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35			12
HP:0000539	HP:0000539	Abnormality of refraction	0	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3
HP:0000539	HP:0000539	Abnormality of refraction	0	TRNT1 CL E G H	51095	17341	OMIM:616959	Retinitis pigmentosa and erythrocytic microcytosis			28
HP:0000539	HP:0000539	Abnormality of refraction	0	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness			104
HP:0000539	HP:0000539	Abnormality of refraction	0	TRPM1 CL E G H	4308	7146	OMIM:613216	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C			104
HP:0000539	HP:0000539	Abnormality of refraction	0	TRPV4 CL E G H	59341	18083	OMIM:113500	Brachyolmia type 3			214
HP:0000539	HP:0000539	Abnormality of refraction	0	TSPAN7 CL E G H	7102	11854	OMIM:300210	MENTAL RETARDATION, X-LINKED 58; MRX58			26
HP:0000539	HP:0000539	Abnormality of refraction	0	TTC8 CL E G H	123016	20087	OMIM:613464	Retinitis pigmentosa 51			41
HP:0000539	HP:0000539	Abnormality of refraction	0	TTLL5 CL E G H	23093	19963	OMIM:615860	Cone-Rod dystrophy 19			9
HP:0000539	HP:0000539	Abnormality of refraction	0	TUB CL E G H	7275	12406	OMIM:616188	Retinal dystrophy and obesity			1
HP:0000539	HP:0000539	Abnormality of refraction	0	TUBB4B CL E G H	10383	20771	OMIM:617879	Leber congenital amaurosis with early-onset deafness
HP:0000539	HP:0000539	Abnormality of refraction	0	TULP1 CL E G H	7287	12423	OMIM:613843	Leber congenital amaurosis 15			66
HP:0000539	HP:0000539	Abnormality of refraction	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0000539	HP:0000539	Abnormality of refraction	0	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA	.		146
HP:0000539	HP:0000539	Abnormality of refraction	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0000539	HP:0000539	Abnormality of refraction	0	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0000539	HP:0000539	Abnormality of refraction	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0000539	HP:0000539	Abnormality of refraction	0	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type			13
HP:0000539	HP:0000539	Abnormality of refraction	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0000539	HP:0000539	Abnormality of refraction	0	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive			21
HP:0000539	HP:0000539	Abnormality of refraction	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome			1
HP:0000539	HP:0000539	Abnormality of refraction	0	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1			173
HP:0000539	HP:0000539	Abnormality of refraction	0	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1			78
HP:0000539	HP:0000539	Abnormality of refraction	0	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2			777
HP:0000539	HP:0000539	Abnormality of refraction	0	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome			2
HP:0000539	HP:0000539	Abnormality of refraction	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted			27
HP:0000539	HP:0000539	Abnormality of refraction	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0000539	HP:0000539	Abnormality of refraction	0	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0000539	HP:0000539	Abnormality of refraction	0	VCAN CL E G H	1462	2464	OMIM:143200	Wagner vitreoretinopathy			180
HP:0000539	HP:0000539	Abnormality of refraction	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome			546
HP:0000539	HP:0000539	Abnormality of refraction	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0000539	HP:0000539	Abnormality of refraction	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000539	HP:0000539	Abnormality of refraction	0	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0000539	HP:0000539	Abnormality of refraction	0	VSX1 CL E G H	30813	12723	OMIM:148300	Keratoconus 1			47
HP:0000539	HP:0000539	Abnormality of refraction	0	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy			47
HP:0000539	HP:0000539	Abnormality of refraction	0	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome			20
HP:0000539	HP:0000539	Abnormality of refraction	0	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion			20
HP:0000539	HP:0000539	Abnormality of refraction	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional		20
HP:0000539	HP:0000539	Abnormality of refraction	0	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia			95
HP:0000539	HP:0000539	Abnormality of refraction	0	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4			95
HP:0000539	HP:0000539	Abnormality of refraction	0	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly			95
HP:0000539	HP:0000539	Abnormality of refraction	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0000539	HP:0000539	Abnormality of refraction	0	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia			136
HP:0000539	HP:0000539	Abnormality of refraction	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0000539	HP:0000539	Abnormality of refraction	0	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2			155
HP:0000539	HP:0000539	Abnormality of refraction	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0000539	HP:0000539	Abnormality of refraction	0	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG			14
HP:0000539	HP:0000539	Abnormality of refraction	0	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0000539	HP:0000539	Abnormality of refraction	0	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11			2
HP:0000539	HP:0000539	Abnormality of refraction	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0000539	HP:0000539	Abnormality of refraction	0	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0000539	HP:0000539	Abnormality of refraction	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0000539	HP:0000539	Abnormality of refraction	0	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy			8
HP:0000539	HP:0000539	Abnormality of refraction	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional		362
HP:0000539	HP:0000539	Abnormality of refraction	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0000539	HP:0000539	Abnormality of refraction	0	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0000539	HP:0000539	Abnormality of refraction	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000539	HP:0000539	Abnormality of refraction	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000539	HP:0000539	Abnormality of refraction	0	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies			4
HP:0000539	HP:0000539	Abnormality of refraction	0	ZNF408 CL E G H	79797	20041	OMIM:616468	Exudative vitreoretinopathy 6			14
HP:0000539	HP:0000539	Abnormality of refraction	0	ZNF408 CL E G H	79797	20041	OMIM:616469	Retinitis pigmentosa 72			14
HP:0000539	HP:0000539	Abnormality of refraction	0	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome			397
HP:0000539	HP:0000539	Abnormality of refraction	0	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome			397
HP:0000539	HP:0000539	Abnormality of refraction	0	ZNF644 CL E G H	84146	29222	OMIM:614167	Myopia 21, autosomal dominant			5
HP:0000539	HP:0000539	Abnormality of refraction	0	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis			5
HP:0000539	HP:0000539	Abnormality of refraction	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia			5
HP:0000539	HP:0000545	Myopia	1	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum	HP:0040282 - Frequent		415
HP:0000539	HP:0000545	Myopia	1	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste	.		415
HP:0000539	HP:0000545	Myopia	1	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency	HP:0040282 - Frequent		120
HP:0000539	HP:0000545	Myopia	1	ACSL4 CL E G H	2182	3571	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040283 - Occasional		19
HP:0000539	HP:0000545	Myopia	1	ADAMTS10 CL E G H	81794	13201	ORPHA:3449	Weill-Marchesani syndrome			63
HP:0000539	HP:0000545	Myopia	1	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1			63
HP:0000539	HP:0000545	Myopia	1	ADAMTS17 CL E G H	170691	17109	OMIM:613195	Weill-Marchesani syndrome 4	.		214
HP:0000539	HP:0000545	Myopia	1	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.		165
HP:0000539	HP:0000545	Myopia	1	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome	HP:0040282 - Frequent
HP:0000539	HP:0000545	Myopia	1	ADAMTSL4 CL E G H	54507	19706	OMIM:225200	Ectopia lentis et pupillae			84
HP:0000539	HP:0000540	Hypermetropia	1	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0000539	HP:0000545	Myopia	1	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2	HP:0040282 - Frequent		530
HP:0000539	HP:0000540	Hypermetropia	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional		47
HP:0000539	HP:0000483	Astigmatism	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional		47
HP:0000539	HP:0000540	Hypermetropia	1	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome	.		47
HP:0000539	HP:0000545	Myopia	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0000539	HP:0000483	Astigmatism	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0000539	HP:0000545	Myopia	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional		6
HP:0000539	HP:0000483	Astigmatism	1	AGBL5 CL E G H	60509	26147	OMIM:617023	Retinitis pigmentosa 75			2
HP:0000539	HP:0000545	Myopia	1	AGBL5 CL E G H	60509	26147	OMIM:617023	Retinitis pigmentosa 75	.		2
HP:0000539	HP:0000545	Myopia	1	AGK CL E G H	55750	21869	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome	HP:0040282 - Frequent		82
HP:0000539	HP:0000545	Myopia	1	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome	.		82
HP:0000539	HP:0000545	Myopia	1	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome			36
HP:0000539	HP:0000545	Myopia	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		54
HP:0000539	HP:0000545	Myopia	1	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6	.		54
HP:0000539	HP:0000545	Myopia	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional		54
HP:0000539	HP:0000545	Myopia	1	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.		89
HP:0000539	HP:0000540	Hypermetropia	1	ALDH1A3 CL E G H	220	409	ORPHA:35612	Nanophthalmos			10
HP:0000539	HP:0000545	Myopia	1	ALDH3A2 CL E G H	224	403	ORPHA:816	Sjögren-Larsson syndrome	HP:0040282 - Frequent		87
HP:0000539	HP:0000483	Astigmatism	1	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome			87
HP:0000539	HP:0000545	Myopia	1	AMMECR1 CL E G H	9949	467	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040283 - Occasional		2
HP:0000539	HP:0000545	Myopia	1	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040283 - Occasional		102
HP:0000539	HP:0000483	Astigmatism	1	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040283 - Occasional		102
HP:0000539	HP:0000545	Myopia	1	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040283 - Occasional		8
HP:0000539	HP:0000545	Myopia	1	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness	.
HP:0000539	HP:0012803	Anisometropia	1	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0000539	HP:0000545	Myopia	1	AP3D1 CL E G H	8943	568	ORPHA:54	X-linked recessive ocular albinism	HP:0040283 - Occasional		1
HP:0000539	HP:0000483	Astigmatism	1	AP3D1 CL E G H	8943	568	ORPHA:54	X-linked recessive ocular albinism	HP:0040281 - Very frequent		1
HP:0000539	HP:0000545	Myopia	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		1
HP:0000539	HP:0000540	Hypermetropia	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		1
HP:0000539	HP:0000483	Astigmatism	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent		1
HP:0000539	HP:0000483	Astigmatism	1	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	.		3
HP:0000539	HP:0000545	Myopia	1	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	.		3
HP:0000539	HP:0000483	Astigmatism	1	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations	.		1
HP:0000539	HP:0000545	Myopia	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		88
HP:0000539	HP:0000545	Myopia	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		219
HP:0000539	HP:0000545	Myopia	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0000539	HP:0000483	Astigmatism	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.		219
HP:0000539	HP:0000545	Myopia	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		25
HP:0000539	HP:0000545	Myopia	1	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1	.		29
HP:0000539	HP:0000483	Astigmatism	1	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1	.		29
HP:0000539	HP:0000483	Astigmatism	1	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0000539	HP:0000545	Myopia	1	ARR3 CL E G H	407	710	OMIM:301010	MYOPIA 26, X-LINKED, FEMALE-LIMITED; MYP26			1
HP:0000539	HP:0000483	Astigmatism	1	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3	HP:0040282 - Frequent
HP:0000539	HP:0000540	Hypermetropia	1	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3
HP:0000539	HP:0000483	Astigmatism	1	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0000539	HP:0000540	Hypermetropia	1	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0000539	HP:0000545	Myopia	1	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs			4
HP:0000539	HP:0000545	Myopia	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.		145
HP:0000539	HP:0000545	Myopia	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0000539	HP:0000540	Hypermetropia	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0000539	HP:0000545	Myopia	1	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome	.		5
HP:0000539	HP:0000545	Myopia	1	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome	HP:0040283 - Occasional		5
HP:0000539	HP:0000545	Myopia	1	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		10
HP:0000539	HP:0000540	Hypermetropia	1	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		10
HP:0000539	HP:0000540	Hypermetropia	1	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0000539	HP:0000545	Myopia	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			140
HP:0000539	HP:0000545	Myopia	1	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.		140
HP:0000539	HP:0000545	Myopia	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome			140
HP:0000539	HP:0000545	Myopia	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			3
HP:0000539	HP:0000540	Hypermetropia	1	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3	.		3
HP:0000539	HP:0000545	Myopia	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional		5
HP:0000539	HP:0000545	Myopia	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			2
HP:0000539	HP:0000545	Myopia	1	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040283 - Occasional		169
HP:0000539	HP:0000545	Myopia	1	B3GALNT2 CL E G H	148789	28596	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		43
HP:0000539	HP:0000545	Myopia	1	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11	.		43
HP:0000539	HP:0000545	Myopia	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional		38
HP:0000539	HP:0000545	Myopia	1	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0000539	HP:0000540	Hypermetropia	1	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0000539	HP:0000545	Myopia	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.		36
HP:0000539	HP:0000545	Myopia	1	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG			85
HP:0000539	HP:0000540	Hypermetropia	1	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0000539	HP:0000545	Myopia	1	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0000539	HP:0000483	Astigmatism	1	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0000539	HP:0000540	Hypermetropia	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000539	HP:0000545	Myopia	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000539	HP:0000545	Myopia	1	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1	.		114
HP:0000539	HP:0000483	Astigmatism	1	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1	.		114
HP:0000539	HP:0000483	Astigmatism	1	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9			119
HP:0000539	HP:0000540	Hypermetropia	1	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	.		3
HP:0000539	HP:0000545	Myopia	1	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	.		3
HP:0000539	HP:0000545	Myopia	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000539	HP:0000540	Hypermetropia	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000539	HP:0000540	Hypermetropia	1	BEST1 CL E G H	7439	12703	OMIM:611809	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB			182
HP:0000539	HP:0000540	Hypermetropia	1	BEST1 CL E G H	7439	12703	ORPHA:35612	Nanophthalmos			182
HP:0000539	HP:0000545	Myopia	1	BFSP2 CL E G H	8419	1041	OMIM:611597	Cataract, autosomal dominant, multiple types 1	.		27
HP:0000539	HP:0000545	Myopia	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0000539	HP:0000540	Hypermetropia	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0000539	HP:0000545	Myopia	1	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8	.		42
HP:0000539	HP:0000483	Astigmatism	1	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8	.		42
HP:0000539	HP:0000540	Hypermetropia	1	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8	.		42
HP:0000539	HP:0000540	Hypermetropia	1	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0000539	HP:0000545	Myopia	1	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies	HP:0040283 - Occasional		38
HP:0000539	HP:0000545	Myopia	1	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0000539	HP:0000545	Myopia	1	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent		2
HP:0000539	HP:0000545	Myopia	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		276
HP:0000539	HP:0000545	Myopia	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.		276
HP:0000539	HP:0000545	Myopia	1	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1	.		276
HP:0000539	HP:0000483	Astigmatism	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		5769
HP:0000539	HP:0000483	Astigmatism	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		7642
HP:0000539	HP:0000545	Myopia	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent
HP:0000539	HP:0000483	Astigmatism	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1086
HP:0000539	HP:0000540	Hypermetropia	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000539	HP:0000545	Myopia	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000539	HP:0000545	Myopia	1	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome	.		13
HP:0000539	HP:0000483	Astigmatism	1	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33	.
HP:0000539	HP:0000540	Hypermetropia	1	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		94
HP:0000539	HP:0000545	Myopia	1	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		94
HP:0000539	HP:0000483	Astigmatism	1	CACNA1F CL E G H	778	1393	OMIM:300600	Aland island eye disease	.		58
HP:0000539	HP:0000545	Myopia	1	CACNA1F CL E G H	778	1393	OMIM:300600	Aland island eye disease	.		58
HP:0000539	HP:0000483	Astigmatism	1	CACNA1F CL E G H	778	1393	ORPHA:178333	Åland Islands eye disease	HP:0040281 - Very frequent		58
HP:0000539	HP:0000545	Myopia	1	CACNA1F CL E G H	778	1393	ORPHA:178333	Åland Islands eye disease	HP:0040281 - Very frequent		58
HP:0000539	HP:0000545	Myopia	1	CACNA1F CL E G H	778	1393	OMIM:300476	Cone-Rod dystrophy, X-linked, 3			58
HP:0000539	HP:0000483	Astigmatism	1	CACNA1F CL E G H	778	1393	OMIM:300476	Cone-Rod dystrophy, X-linked, 3	HP:0040283 - Occasional		58
HP:0000539	HP:0000545	Myopia	1	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		58
HP:0000539	HP:0000540	Hypermetropia	1	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		58
HP:0000539	HP:0000540	Hypermetropia	1	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	.		32
HP:0000539	HP:0000540	Hypermetropia	1	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		129
HP:0000539	HP:0000545	Myopia	1	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		129
HP:0000539	HP:0000483	Astigmatism	1	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0000539	HP:0000545	Myopia	1	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59	.		1
HP:0000539	HP:0000545	Myopia	1	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0000539	HP:0000483	Astigmatism	1	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0000539	HP:0000545	Myopia	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1	.	HP:0003584 - Late onset	85
HP:0000539	HP:0000483	Astigmatism	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000539	HP:0000545	Myopia	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000539	HP:0000545	Myopia	1	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type	HP:0040282 - Frequent		118
HP:0000539	HP:0000540	Hypermetropia	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0000539	HP:0000545	Myopia	1	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria	HP:0040282 - Frequent		242
HP:0000539	HP:0000545	Myopia	1	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency			242
HP:0000539	HP:0000483	Astigmatism	1	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9	.		247
HP:0000539	HP:0000545	Myopia	1	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1	.		4
HP:0000539	HP:0000483	Astigmatism	1	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1	.		4
HP:0000539	HP:0000540	Hypermetropia	1	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0000539	HP:0000545	Myopia	1	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome	HP:0040283 - Occasional		7
HP:0000539	HP:0000545	Myopia	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.		9
HP:0000539	HP:0000540	Hypermetropia	1	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1			636
HP:0000539	HP:0000545	Myopia	1	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0000539	HP:0000540	Hypermetropia	1	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0000539	HP:0000483	Astigmatism	1	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3	HP:0040282 - Frequent		9
HP:0000539	HP:0000540	Hypermetropia	1	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3			9
HP:0000539	HP:0000545	Myopia	1	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21	.
HP:0000539	HP:0000540	Hypermetropia	1	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40	.		16
HP:0000539	HP:0000483	Astigmatism	1	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome	.		2
HP:0000539	HP:0000540	Hypermetropia	1	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome	.		2
HP:0000539	HP:0000483	Astigmatism	1	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome	.		14
HP:0000539	HP:0000545	Myopia	1	CHM CL E G H	1121	1940	ORPHA:180	Choroideremia	HP:0040281 - Very frequent		47
HP:0000539	HP:0000483	Astigmatism	1	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8	.		19
HP:0000539	HP:0000545	Myopia	1	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8	.		19
HP:0000539	HP:0000540	Hypermetropia	1	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8	.		19
HP:0000539	HP:0000483	Astigmatism	1	CHRDL1 CL E G H	91851	29861	OMIM:309300	MEGALOCORNEA	.		9
HP:0000539	HP:0000545	Myopia	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.		27
HP:0000539	HP:0000483	Astigmatism	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0000539	HP:0000483	Astigmatism	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040282 - Frequent		27
HP:0000539	HP:0000545	Myopia	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040282 - Frequent		27
HP:0000539	HP:0000540	Hypermetropia	1	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0000539	HP:0000483	Astigmatism	1	CHST6 CL E G H	4166	6938	ORPHA:98969	Macular corneal dystrophy			129
HP:0000539	HP:0000540	Hypermetropia	1	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1			15
HP:0000539	HP:0000540	Hypermetropia	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0000539	HP:0012803	Anisometropia	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0000539	HP:0000483	Astigmatism	1	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0000539	HP:0000540	Hypermetropia	1	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0000539	HP:0000545	Myopia	1	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal	.		58
HP:0000539	HP:0000483	Astigmatism	1	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal	.		58
HP:0000539	HP:0000540	Hypermetropia	1	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal	.		58
HP:0000539	HP:0000545	Myopia	1	CLDN19 CL E G H	149461	2040	ORPHA:2196	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement	HP:0040281 - Very frequent		42
HP:0000539	HP:0000545	Myopia	1	CLDN19 CL E G H	149461	2040	OMIM:248190	Hypomagnesemia 5, renal, with or without ocular involvement	.		42
HP:0000539	HP:0000483	Astigmatism	1	CLDN19 CL E G H	149461	2040	OMIM:248190	Hypomagnesemia 5, renal, with or without ocular involvement	.		42
HP:0000539	HP:0000545	Myopia	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000539	HP:0000540	Hypermetropia	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000539	HP:0000483	Astigmatism	1	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3	HP:0040282 - Frequent		60
HP:0000539	HP:0000540	Hypermetropia	1	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3			60
HP:0000539	HP:0000545	Myopia	1	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		82
HP:0000539	HP:0000540	Hypermetropia	1	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		82
HP:0000539	HP:0000483	Astigmatism	1	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2			82
HP:0000539	HP:0000545	Myopia	1	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		194
HP:0000539	HP:0000540	Hypermetropia	1	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		194
HP:0000539	HP:0000545	Myopia	1	CNGB3 CL E G H	54714	2153	OMIM:262300	Achromatopsia 3			194
HP:0000539	HP:0000540	Hypermetropia	1	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome			61
HP:0000539	HP:0000540	Hypermetropia	1	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000539	HP:0000545	Myopia	1	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome			215
HP:0000539	HP:0000483	Astigmatism	1	COL11A1 CL E G H	1301	2186	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent		215
HP:0000539	HP:0000545	Myopia	1	COL11A1 CL E G H	1301	2186	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent		215
HP:0000539	HP:0000545	Myopia	1	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040281 - Very frequent		215
HP:0000539	HP:0000545	Myopia	1	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.		215
HP:0000539	HP:0000545	Myopia	1	COL11A1 CL E G H	1301	2186	ORPHA:90654	Stickler syndrome type 2	HP:0040281 - Very frequent		215
HP:0000539	HP:0000545	Myopia	1	COL11A1 CL E G H	1301	2186	OMIM:604841	Stickler syndrome, type II			215
HP:0000539	HP:0000545	Myopia	1	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia			222
HP:0000539	HP:0000540	Hypermetropia	1	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia	HP:0040284 - Very rare		222
HP:0000539	HP:0000545	Myopia	1	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional		65
HP:0000539	HP:0000483	Astigmatism	1	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy			129
HP:0000539	HP:0000545	Myopia	1	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome	HP:0040281 - Very frequent		177
HP:0000539	HP:0000545	Myopia	1	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1			177
HP:0000539	HP:0000545	Myopia	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040282 - Frequent		243
HP:0000539	HP:0000483	Astigmatism	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0000539	HP:0000540	Hypermetropia	1	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis			3
HP:0000539	HP:0000483	Astigmatism	1	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis			3
HP:0000539	HP:0012803	Anisometropia	1	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis			3
HP:0000539	HP:0000545	Myopia	1	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis			3
HP:0000539	HP:0000545	Myopia	1	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2	HP:0040283 - Occasional		284
HP:0000539	HP:0000545	Myopia	1	COL2A1 CL E G H	1280	2200	OMIM:132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness	.		284
HP:0000539	HP:0000545	Myopia	1	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.		284
HP:0000539	HP:0000545	Myopia	1	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia			284
HP:0000539	HP:0000545	Myopia	1	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040282 - Frequent		284
HP:0000539	HP:0000545	Myopia	1	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type	HP:0040282 - Frequent		284
HP:0000539	HP:0000545	Myopia	1	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type	.		284
HP:0000539	HP:0000545	Myopia	1	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita			284
HP:0000539	HP:0000545	Myopia	1	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita	HP:0040283 - Occasional		284
HP:0000539	HP:0000545	Myopia	1	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional		284
HP:0000539	HP:0000545	Myopia	1	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type	HP:0040283 - Occasional		284
HP:0000539	HP:0000545	Myopia	1	COL2A1 CL E G H	1280	2200	ORPHA:1856	Spondyloperipheral dysplasia-short ulna syndrome	HP:0040282 - Frequent		284
HP:0000539	HP:0000545	Myopia	1	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1	HP:0040281 - Very frequent		284
HP:0000539	HP:0000545	Myopia	1	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I	.		284
HP:0000539	HP:0000545	Myopia	1	COL2A1 CL E G H	1280	2200	OMIM:609508	STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR			284
HP:0000539	HP:0000540	Hypermetropia	1	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome	.		749
HP:0000539	HP:0000545	Myopia	1	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies	.		193
HP:0000539	HP:0000540	Hypermetropia	1	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies	HP:0040284 - Very rare		193
HP:0000539	HP:0000483	Astigmatism	1	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies	HP:0040284 - Very rare		193
HP:0000539	HP:0000545	Myopia	1	COL4A3 CL E G H	1285	2204	OMIM:104200	Alport syndrome, autosomal dominant	.		161
HP:0000539	HP:0000545	Myopia	1	COL4A3 CL E G H	1285	2204	OMIM:203780	Alport syndrome, autosomal recessive	.		161
HP:0000539	HP:0000545	Myopia	1	COL4A4 CL E G H	1286	2206	OMIM:203780	Alport syndrome, autosomal recessive	.		174
HP:0000539	HP:0000545	Myopia	1	COL4A5 CL E G H	1287	2207	OMIM:301050	Alport syndrome, X-linked	.		678
HP:0000539	HP:0000545	Myopia	1	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional		678
HP:0000539	HP:0000545	Myopia	1	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional		18
HP:0000539	HP:0000545	Myopia	1	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I	.		660
HP:0000539	HP:0000483	Astigmatism	1	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		3
HP:0000539	HP:0000545	Myopia	1	COL9A1 CL E G H	1297	2217	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent		110
HP:0000539	HP:0000483	Astigmatism	1	COL9A1 CL E G H	1297	2217	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent		110
HP:0000539	HP:0000483	Astigmatism	1	COL9A1 CL E G H	1297	2217	OMIM:614134	STICKLER SYNDROME, TYPE IV; STL4			110
HP:0000539	HP:0000545	Myopia	1	COL9A1 CL E G H	1297	2217	OMIM:614134	STICKLER SYNDROME, TYPE IV; STL4			110
HP:0000539	HP:0000483	Astigmatism	1	COL9A2 CL E G H	1298	2218	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent		110
HP:0000539	HP:0000545	Myopia	1	COL9A2 CL E G H	1298	2218	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent		110
HP:0000539	HP:0000545	Myopia	1	COL9A2 CL E G H	1298	2218	OMIM:614284	Stickler syndrome, type V			110
HP:0000539	HP:0000545	Myopia	1	COL9A3 CL E G H	1299	2219	OMIM:620022				137
HP:0000539	HP:0000483	Astigmatism	1	COL9A3 CL E G H	1299	2219	OMIM:620022				137
HP:0000539	HP:0000545	Myopia	1	COL9A3 CL E G H	1299	2219	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent		137
HP:0000539	HP:0000483	Astigmatism	1	COL9A3 CL E G H	1299	2219	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent		137
HP:0000539	HP:0000545	Myopia	1	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2	HP:0040283 - Occasional		6
HP:0000539	HP:0000545	Myopia	1	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7			6
HP:0000539	HP:0000545	Myopia	1	CPSF1 CL E G H	29894	2324	OMIM:618827	MYOPIA 27, AUTOSOMAL DOMINANT; MYP27
HP:0000539	HP:0000540	Hypermetropia	1	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8			156
HP:0000539	HP:0000540	Hypermetropia	1	CRB1 CL E G H	23418	2343	ORPHA:35612	Nanophthalmos			156
HP:0000539	HP:0000540	Hypermetropia	1	CRB1 CL E G H	23418	2343	OMIM:172870	Pigmented paravenous chorioretinal atrophy	.		156
HP:0000539	HP:0000540	Hypermetropia	1	CRB1 CL E G H	23418	2343	OMIM:600105	Retinitis pigmentosa 12			156
HP:0000539	HP:0000540	Hypermetropia	1	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0000539	HP:0000540	Hypermetropia	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional		291
HP:0000539	HP:0000545	Myopia	1	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0000539	HP:0000545	Myopia	1	CRYAA CL E G H	1409	2388	ORPHA:1377	Cataract-microcornea syndrome	HP:0040282 - Frequent		33
HP:0000539	HP:0000545	Myopia	1	CRYBA2 CL E G H	1412	2395	OMIM:115900	Cataract 42	HP:0040283 - Occasional
HP:0000539	HP:0000545	Myopia	1	CRYBA4 CL E G H	1413	2396	ORPHA:1377	Cataract-microcornea syndrome	HP:0040282 - Frequent		10
HP:0000539	HP:0000545	Myopia	1	CRYBB1 CL E G H	1414	2397	ORPHA:1377	Cataract-microcornea syndrome	HP:0040282 - Frequent		18
HP:0000539	HP:0000545	Myopia	1	CRYBB2 CL E G H	1415	2398	ORPHA:1377	Cataract-microcornea syndrome	HP:0040282 - Frequent		13
HP:0000539	HP:0000545	Myopia	1	CRYGC CL E G H	1420	2410	ORPHA:1377	Cataract-microcornea syndrome	HP:0040282 - Frequent		11
HP:0000539	HP:0000545	Myopia	1	CRYGD CL E G H	1421	2411	ORPHA:1377	Cataract-microcornea syndrome	HP:0040282 - Frequent		29
HP:0000539	HP:0000540	Hypermetropia	1	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0000539	HP:0000545	Myopia	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		57
HP:0000539	HP:0000540	Hypermetropia	1	CSTA CL E G H	1475	2481	ORPHA:263534	Acral peeling skin syndrome			4
HP:0000539	HP:0000540	Hypermetropia	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040282 - Frequent		20
HP:0000539	HP:0000540	Hypermetropia	1	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21			20
HP:0000539	HP:0000540	Hypermetropia	1	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects	HP:0040284 - Very rare		88
HP:0000539	HP:0000545	Myopia	1	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome	HP:0040283 - Occasional		88
HP:0000539	HP:0000540	Hypermetropia	1	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome	HP:0040283 - Occasional		88
HP:0000539	HP:0000545	Myopia	1	CYP1B1 CL E G H	1545	2597	ORPHA:98977	Juvenile glaucoma			101
HP:0000539	HP:0000545	Myopia	1	CYP4V2 CL E G H	285440	23198	OMIM:210370	Bietti crystalline corneoretinal dystrophy			126
HP:0000539	HP:0000545	Myopia	1	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy			108
HP:0000539	HP:0000545	Myopia	1	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9	.		108
HP:0000539	HP:0000540	Hypermetropia	1	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000539	HP:0000545	Myopia	1	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent		33
HP:0000539	HP:0000545	Myopia	1	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	.		5
HP:0000539	HP:0000540	Hypermetropia	1	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	.		5
HP:0000539	HP:0000483	Astigmatism	1	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	.		5
HP:0000539	HP:0000540	Hypermetropia	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000539	HP:0000545	Myopia	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000539	HP:0000545	Myopia	1	DOHH CL E G H	83475	28662	OMIM:620066
HP:0000539	HP:0000483	Astigmatism	1	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional		38
HP:0000539	HP:0000545	Myopia	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0000539	HP:0000540	Hypermetropia	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0000539	HP:0000545	Myopia	1	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0000539	HP:0000545	Myopia	1	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome	HP:0040281 - Very frequent		144
HP:0000539	HP:0000483	Astigmatism	1	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome	HP:0040281 - Very frequent		144
HP:0000539	HP:0000545	Myopia	1	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional		144
HP:0000539	HP:0000483	Astigmatism	1	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional		144
HP:0000539	HP:0000483	Astigmatism	1	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040282 - Frequent		13
HP:0000539	HP:0000545	Myopia	1	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040282 - Frequent		13
HP:0000539	HP:0000483	Astigmatism	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040284 - Very rare		134
HP:0000539	HP:0000540	Hypermetropia	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040283 - Occasional		134
HP:0000539	HP:0000545	Myopia	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040283 - Occasional		134
HP:0000539	HP:0000483	Astigmatism	1	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040283 - Occasional		134
HP:0000539	HP:0000540	Hypermetropia	1	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040283 - Occasional		134
HP:0000539	HP:0000545	Myopia	1	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040283 - Occasional		134
HP:0000539	HP:0000483	Astigmatism	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0000539	HP:0000483	Astigmatism	1	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000539	HP:0000545	Myopia	1	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0000539	HP:0000545	Myopia	1	EFEMP1 CL E G H	2202	3218	ORPHA:98977	Juvenile glaucoma			54
HP:0000539	HP:0000545	Myopia	1	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2			1
HP:0000539	HP:0000540	Hypermetropia	1	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040284 - Very rare		223
HP:0000539	HP:0000545	Myopia	1	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome	.		8
HP:0000539	HP:0000545	Myopia	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000539	HP:0000540	Hypermetropia	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000539	HP:0000545	Myopia	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		172
HP:0000539	HP:0000540	Hypermetropia	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0000539	HP:0000545	Myopia	1	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation			62
HP:0000539	HP:0000545	Myopia	1	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia	HP:0040283 - Occasional		133
HP:0000539	HP:0000545	Myopia	1	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0000539	HP:0000483	Astigmatism	1	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0000539	HP:0000540	Hypermetropia	1	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0000539	HP:0000483	Astigmatism	1	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	HP:0040283 - Occasional		5
HP:0000539	HP:0000545	Myopia	1	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	HP:0040283 - Occasional		5
HP:0000539	HP:0000545	Myopia	1	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum	HP:0040282 - Frequent		151
HP:0000539	HP:0000540	Hypermetropia	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional		250
HP:0000539	HP:0000545	Myopia	1	EPHA2 CL E G H	1969	3386	OMIM:116600	Cataract, posterior polar, 1 ctpa cataract, congenital total, included	.		87
HP:0000539	HP:0000540	Hypermetropia	1	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15	.
HP:0000539	HP:0000545	Myopia	1	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2			12
HP:0000539	HP:0000545	Myopia	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0000539	HP:0000483	Astigmatism	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0000539	HP:0000545	Myopia	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0000539	HP:0000483	Astigmatism	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0000539	HP:0000483	Astigmatism	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		158
HP:0000539	HP:0000483	Astigmatism	1	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F	HP:0040283 - Occasional		158
HP:0000539	HP:0000540	Hypermetropia	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		199
HP:0000539	HP:0000540	Hypermetropia	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.		199
HP:0000539	HP:0000540	Hypermetropia	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.		55
HP:0000539	HP:0000540	Hypermetropia	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		55
HP:0000539	HP:0000540	Hypermetropia	1	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040282 - Frequent		36
HP:0000539	HP:0000540	Hypermetropia	1	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1			33
HP:0000539	HP:0000545	Myopia	1	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	.
HP:0000539	HP:0000483	Astigmatism	1	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0000539	HP:0000545	Myopia	1	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0000539	HP:0000540	Hypermetropia	1	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040282 - Frequent		8
HP:0000539	HP:0000540	Hypermetropia	1	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2	.		8
HP:0000539	HP:0000483	Astigmatism	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		340
HP:0000539	HP:0000483	Astigmatism	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		58
HP:0000539	HP:0000483	Astigmatism	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		410
HP:0000539	HP:0000483	Astigmatism	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		147
HP:0000539	HP:0000483	Astigmatism	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0000539	HP:0000483	Astigmatism	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		87
HP:0000539	HP:0000483	Astigmatism	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0000539	HP:0000483	Astigmatism	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		157
HP:0000539	HP:0000483	Astigmatism	1	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.		157
HP:0000539	HP:0000545	Myopia	1	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.		157
HP:0000539	HP:0000483	Astigmatism	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		53
HP:0000539	HP:0000483	Astigmatism	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		107
HP:0000539	HP:0000545	Myopia	1	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0000539	HP:0000483	Astigmatism	1	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0000539	HP:0000545	Myopia	1	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0000539	HP:0000545	Myopia	1	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome			1361
HP:0000539	HP:0000545	Myopia	1	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional		1361
HP:0000539	HP:0000545	Myopia	1	FBN1 CL E G H	2200	3603	OMIM:184900	STIFF SKIN SYNDROME; SSKS			1361
HP:0000539	HP:0000545	Myopia	1	FBN1 CL E G H	2200	3603	ORPHA:3449	Weill-Marchesani syndrome			1361
HP:0000539	HP:0000545	Myopia	1	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0000539	HP:0000483	Astigmatism	1	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0000539	HP:0000545	Myopia	1	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital	.		655
HP:0000539	HP:0000540	Hypermetropia	1	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	.		7
HP:0000539	HP:0000545	Myopia	1	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0000539	HP:0000483	Astigmatism	1	FBXW7 CL E G H	55294	16712	OMIM:620012				22
HP:0000539	HP:0000540	Hypermetropia	1	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome	.		62
HP:0000539	HP:0000540	Hypermetropia	1	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia			18
HP:0000539	HP:0000545	Myopia	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome			175
HP:0000539	HP:0000545	Myopia	1	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans			145
HP:0000539	HP:0000483	Astigmatism	1	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040283 - Occasional		2
HP:0000539	HP:0000545	Myopia	1	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	HP:0040281 - Very frequent		13
HP:0000539	HP:0000545	Myopia	1	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency	HP:0040282 - Frequent		13
HP:0000539	HP:0000540	Hypermetropia	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000539	HP:0000545	Myopia	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000539	HP:0000545	Myopia	1	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional		157
HP:0000539	HP:0000545	Myopia	1	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		157
HP:0000539	HP:0000545	Myopia	1	FKRP CL E G H	79147	17997	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		157
HP:0000539	HP:0000545	Myopia	1	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		157
HP:0000539	HP:0000545	Myopia	1	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5	.		157
HP:0000539	HP:0000545	Myopia	1	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type	HP:0040282 - Frequent		184
HP:0000539	HP:0000545	Myopia	1	FKTN CL E G H	2218	3622	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		184
HP:0000539	HP:0000545	Myopia	1	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		184
HP:0000539	HP:0000545	Myopia	1	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.		184
HP:0000539	HP:0000540	Hypermetropia	1	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.		184
HP:0000539	HP:0000540	Hypermetropia	1	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0000539	HP:0000545	Myopia	1	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent
HP:0000539	HP:0000545	Myopia	1	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia			493
HP:0000539	HP:0000483	Astigmatism	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional		493
HP:0000539	HP:0000545	Myopia	1	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional		9
HP:0000539	HP:0000540	Hypermetropia	1	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis	.		92
HP:0000539	HP:0000540	Hypermetropia	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0000539	HP:0000483	Astigmatism	1	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000539	HP:0000540	Hypermetropia	1	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18	.		33
HP:0000539	HP:0000483	Astigmatism	1	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	HP:0040283 - Occasional		33
HP:0000539	HP:0000545	Myopia	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent		68
HP:0000539	HP:0000540	Hypermetropia	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0000539	HP:0000545	Myopia	1	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive	.		68
HP:0000539	HP:0000540	Hypermetropia	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0000539	HP:0000545	Myopia	1	GJA8 CL E G H	2703	4281	ORPHA:1377	Cataract-microcornea syndrome	HP:0040282 - Frequent		34
HP:0000539	HP:0000540	Hypermetropia	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0000539	HP:0000545	Myopia	1	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2	.		37
HP:0000539	HP:0000545	Myopia	1	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.		45
HP:0000539	HP:0000545	Myopia	1	GLRA2 CL E G H	2742	4327	OMIM:301076	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0000539	HP:0000483	Astigmatism	1	GLRB CL E G H	2743	4329	OMIM:614619	Hyperekplexia 2	.		46
HP:0000539	HP:0000545	Myopia	1	GLRB CL E G H	2743	4329	OMIM:614619	Hyperekplexia 2	.		46
HP:0000539	HP:0000545	Myopia	1	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional		34
HP:0000539	HP:0000545	Myopia	1	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		34
HP:0000539	HP:0000545	Myopia	1	GMPPB CL E G H	29925	22932	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		34
HP:0000539	HP:0000540	Hypermetropia	1	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		39
HP:0000539	HP:0000545	Myopia	1	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		39
HP:0000539	HP:0000540	Hypermetropia	1	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		19
HP:0000539	HP:0000545	Myopia	1	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		19
HP:0000539	HP:0000540	Hypermetropia	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000539	HP:0000545	Myopia	1	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		5
HP:0000539	HP:0000540	Hypermetropia	1	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		5
HP:0000539	HP:0000545	Myopia	1	GNB3 CL E G H	2784	4400	OMIM:617024	Night blindness, congenital stationary, type 1H			5
HP:0000539	HP:0000540	Hypermetropia	1	GNB3 CL E G H	2784	4400	OMIM:617024	Night blindness, congenital stationary, type 1H	HP:0040283 - Occasional		5
HP:0000539	HP:0000483	Astigmatism	1	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta			240
HP:0000539	HP:0000545	Myopia	1	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma	.		57
HP:0000539	HP:0000545	Myopia	1	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0000539	HP:0000545	Myopia	1	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome	HP:0040282 - Frequent
HP:0000539	HP:0000483	Astigmatism	1	GPR143 CL E G H	4935	20145	OMIM:300814	Nystagmus 6, congenital, X-linked			64
HP:0000539	HP:0000545	Myopia	1	GPR143 CL E G H	4935	20145	ORPHA:54	X-linked recessive ocular albinism	HP:0040283 - Occasional		64
HP:0000539	HP:0000483	Astigmatism	1	GPR143 CL E G H	4935	20145	ORPHA:54	X-linked recessive ocular albinism	HP:0040281 - Very frequent		64
HP:0000539	HP:0000540	Hypermetropia	1	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		124
HP:0000539	HP:0000545	Myopia	1	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		124
HP:0000539	HP:0000545	Myopia	1	GPR179 CL E G H	440435	31371	OMIM:614565	Night blindness, congenital stationary, type 1E	.		124
HP:0000539	HP:0000483	Astigmatism	1	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		33
HP:0000539	HP:0000483	Astigmatism	1	GRIA1 CL E G H	2890	4571	OMIM:619927				3
HP:0000539	HP:0000545	Myopia	1	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		4
HP:0000539	HP:0000540	Hypermetropia	1	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		4
HP:0000539	HP:0000545	Myopia	1	GRK1 CL E G H	6011	10013	ORPHA:75382	Oguchi disease	HP:0040283 - Occasional		4
HP:0000539	HP:0000540	Hypermetropia	1	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		63
HP:0000539	HP:0000545	Myopia	1	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		63
HP:0000539	HP:0000545	Myopia	1	GRM6 CL E G H	2916	4598	OMIM:257270	Night blindness, congenital stationary, type 1B	.		63
HP:0000539	HP:0000483	Astigmatism	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0000539	HP:0000545	Myopia	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0000539	HP:0000483	Astigmatism	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0000539	HP:0000545	Myopia	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0000539	HP:0000540	Hypermetropia	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0000539	HP:0000545	Myopia	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0000539	HP:0000540	Hypermetropia	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0000539	HP:0000545	Myopia	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0000539	HP:0000540	Hypermetropia	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0000539	HP:0000545	Myopia	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0000539	HP:0000545	Myopia	1	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome	.
HP:0000539	HP:0000545	Myopia	1	GZF1 CL E G H	64412	15808	OMIM:617662	Joint laxity, short stature, and myopia
HP:0000539	HP:0000483	Astigmatism	1	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome	.
HP:0000539	HP:0000545	Myopia	1	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000539	HP:0000540	Hypermetropia	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000539	HP:0000545	Myopia	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000539	HP:0000545	Myopia	1	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures	HP:0040283 - Occasional		10
HP:0000539	HP:0000545	Myopia	1	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	HP:0040282 - Frequent		10
HP:0000539	HP:0000545	Myopia	1	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		99
HP:0000539	HP:0000540	Hypermetropia	1	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3
HP:0000539	HP:0000483	Astigmatism	1	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3	HP:0040282 - Frequent
HP:0000539	HP:0000545	Myopia	1	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7			11
HP:0000539	HP:0000483	Astigmatism	1	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0000539	HP:0000545	Myopia	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		37
HP:0000539	HP:0000545	Myopia	1	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5	.		37
HP:0000539	HP:0000545	Myopia	1	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome			16
HP:0000539	HP:0000545	Myopia	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0000539	HP:0000540	Hypermetropia	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome	.		38
HP:0000539	HP:0000540	Hypermetropia	1	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0000539	HP:0000483	Astigmatism	1	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0000539	HP:0000545	Myopia	1	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional		8
HP:0000539	HP:0000540	Hypermetropia	1	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional		8
HP:0000539	HP:0000540	Hypermetropia	1	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional		8
HP:0000539	HP:0000545	Myopia	1	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional		8
HP:0000539	HP:0000540	Hypermetropia	1	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0000539	HP:0000545	Myopia	1	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome
HP:0000539	HP:0000540	Hypermetropia	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0000539	HP:0000545	Myopia	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040282 - Frequent		345
HP:0000539	HP:0000545	Myopia	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.		345
HP:0000539	HP:0000545	Myopia	1	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome	.		12
HP:0000539	HP:0000545	Myopia	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.		98
HP:0000539	HP:0000540	Hypermetropia	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0000539	HP:0000540	Hypermetropia	1	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0000539	HP:0000545	Myopia	1	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1	.		28
HP:0000539	HP:0000545	Myopia	1	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia	HP:0040283 - Occasional		93
HP:0000539	HP:0000545	Myopia	1	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.		93
HP:0000539	HP:0000540	Hypermetropia	1	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia			93
HP:0000539	HP:0000483	Astigmatism	1	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0000539	HP:0000540	Hypermetropia	1	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0000539	HP:0000545	Myopia	1	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia	HP:0040283 - Occasional		11
HP:0000539	HP:0000540	Hypermetropia	1	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia			11
HP:0000539	HP:0000545	Myopia	1	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia	HP:0040283 - Occasional		4
HP:0000539	HP:0000540	Hypermetropia	1	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia			4
HP:0000539	HP:0000540	Hypermetropia	1	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly	.		4
HP:0000539	HP:0000545	Myopia	1	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040283 - Occasional		91
HP:0000539	HP:0000483	Astigmatism	1	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000539	HP:0000545	Myopia	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000539	HP:0000540	Hypermetropia	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome	.
HP:0000539	HP:0000545	Myopia	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0000539	HP:0000540	Hypermetropia	1	IQSEC2 CL E G H	23096	29059	OMIM:309530	Mental retardation, X-linked 1	.		119
HP:0000539	HP:0000545	Myopia	1	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent		119
HP:0000539	HP:0000545	Myopia	1	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0000539	HP:0000545	Myopia	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.		257
HP:0000539	HP:0000540	Hypermetropia	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040282 - Frequent		283
HP:0000539	HP:0000540	Hypermetropia	1	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0000539	HP:0000540	Hypermetropia	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040282 - Frequent		283
HP:0000539	HP:0000545	Myopia	1	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0000539	HP:0000540	Hypermetropia	1	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0000539	HP:0000483	Astigmatism	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000539	HP:0000545	Myopia	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000539	HP:0000540	Hypermetropia	1	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0000539	HP:0000540	Hypermetropia	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0000539	HP:0000545	Myopia	1	KCNE5 CL E G H	23630	6241	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040283 - Occasional		5
HP:0000539	HP:0000545	Myopia	1	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	.		13
HP:0000539	HP:0000545	Myopia	1	KCNV2 CL E G H	169522	19698	OMIM:610356	Retinal cone dystrophy 3B	.		73
HP:0000539	HP:0000483	Astigmatism	1	KCNV2 CL E G H	169522	19698	OMIM:610356	Retinal cone dystrophy 3B	.		73
HP:0000539	HP:0000545	Myopia	1	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65	.		2
HP:0000539	HP:0000483	Astigmatism	1	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65	.		2
HP:0000539	HP:0000540	Hypermetropia	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0000539	HP:0000545	Myopia	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0000539	HP:0000540	Hypermetropia	1	KERA CL E G H	11081	6309	OMIM:217300	Cornea plana 2	.		8
HP:0000539	HP:0000545	Myopia	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		24
HP:0000539	HP:0000540	Hypermetropia	1	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38			4
HP:0000539	HP:0000540	Hypermetropia	1	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0000539	HP:0000483	Astigmatism	1	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0000539	HP:0000540	Hypermetropia	1	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome	HP:0040282 - Frequent		4
HP:0000539	HP:0000545	Myopia	1	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	HP:0040283 - Occasional		46
HP:0000539	HP:0000540	Hypermetropia	1	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	.		46
HP:0000539	HP:0000483	Astigmatism	1	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	.		46
HP:0000539	HP:0000545	Myopia	1	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040282 - Frequent		46
HP:0000539	HP:0000545	Myopia	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		1
HP:0000539	HP:0000540	Hypermetropia	1	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0000539	HP:0000483	Astigmatism	1	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0000539	HP:0000483	Astigmatism	1	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset	HP:0040283 - Occasional		11
HP:0000539	HP:0000540	Hypermetropia	1	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040284 - Very rare		99
HP:0000539	HP:0000545	Myopia	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		196
HP:0000539	HP:0000545	Myopia	1	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2			196
HP:0000539	HP:0012803	Anisometropia	1	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	.		196
HP:0000539	HP:0000483	Astigmatism	1	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	HP:0040283 - Occasional		196
HP:0000539	HP:0000540	Hypermetropia	1	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040283 - Occasional		110
HP:0000539	HP:0000540	Hypermetropia	1	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040283 - Occasional		173
HP:0000539	HP:0000540	Hypermetropia	1	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome	HP:0040283 - Occasional		35
HP:0000539	HP:0000545	Myopia	1	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome	HP:0040282 - Frequent		35
HP:0000539	HP:0000545	Myopia	1	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome	.		35
HP:0000539	HP:0000545	Myopia	1	LAMB2 CL E G H	3913	6487	OMIM:614199	Nephrotic syndrome, type 5, with or without ocular abnormalities			92
HP:0000539	HP:0000545	Myopia	1	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome			92
HP:0000539	HP:0000545	Myopia	1	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		136
HP:0000539	HP:0000545	Myopia	1	LARGE1 CL E G H	9215	6511	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		136
HP:0000539	HP:0000545	Myopia	1	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		136
HP:0000539	HP:0000540	Hypermetropia	1	LCA5 CL E G H	167691	31923	OMIM:604537	Leber congenital amaurosis 5			70
HP:0000539	HP:0000545	Myopia	1	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional		70
HP:0000539	HP:0000545	Myopia	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional		88
HP:0000539	HP:0000540	Hypermetropia	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000539	HP:0000545	Myopia	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000539	HP:0000483	Astigmatism	1	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000539	HP:0000540	Hypermetropia	1	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000539	HP:0000483	Astigmatism	1	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040282 - Frequent		165
HP:0000539	HP:0000545	Myopia	1	LOC111365204 CL E G H	111365204		OMIM:600790	Chorioretinal atrophy, progressive bifocal	.
HP:0000539	HP:0000545	Myopia	1	LOX CL E G H	4015	6664	OMIM:617168	Aortic aneurysm, familial thoracic 10	HP:0040283 - Occasional		6
HP:0000539	HP:0000545	Myopia	1	LOXL3 CL E G H	84695	13869	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent		4
HP:0000539	HP:0000483	Astigmatism	1	LOXL3 CL E G H	84695	13869	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent		4
HP:0000539	HP:0000545	Myopia	1	LOXL3 CL E G H	84695	13869	OMIM:619781	MYOPIA 28, AUTOSOMAL RECESSIVE; MYP28			4
HP:0000539	HP:0000545	Myopia	1	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional		62
HP:0000539	HP:0000540	Hypermetropia	1	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		54
HP:0000539	HP:0000545	Myopia	1	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		54
HP:0000539	HP:0000545	Myopia	1	LRIT3 CL E G H	345193	24783	OMIM:615058	Night blindness, congenital stationary, type 1F	.		54
HP:0000539	HP:0000545	Myopia	1	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0000539	HP:0000545	Myopia	1	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome	HP:0040281 - Very frequent		289
HP:0000539	HP:0000545	Myopia	1	LRPAP1 CL E G H	4043	6701	OMIM:615431	Myopia 23, autosomal recessive			4
HP:0000539	HP:0000545	Myopia	1	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0000539	HP:0000540	Hypermetropia	1	LTBP2 CL E G H	4053	6715	OMIM:251750	Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma	HP:0040283 - Occasional		123
HP:0000539	HP:0000545	Myopia	1	LTBP2 CL E G H	4053	6715	OMIM:251750	Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma	.		123
HP:0000539	HP:0000545	Myopia	1	LTBP2 CL E G H	4053	6715	ORPHA:3449	Weill-Marchesani syndrome			123
HP:0000539	HP:0000545	Myopia	1	LTBP2 CL E G H	4053	6715	OMIM:614819	Weill-Marchesani syndrome 3	.		123
HP:0000539	HP:0000540	Hypermetropia	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0000539	HP:0000483	Astigmatism	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1
HP:0000539	HP:0000545	Myopia	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0000539	HP:0000540	Hypermetropia	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0000539	HP:0000545	Myopia	1	MAF CL E G H	4094	6776	OMIM:610202	Cataract 21, multiple types			21
HP:0000539	HP:0000545	Myopia	1	MAF CL E G H	4094	6776	ORPHA:1377	Cataract-microcornea syndrome	HP:0040282 - Frequent		21
HP:0000539	HP:0000483	Astigmatism	1	MAG CL E G H	4099	6783	ORPHA:459056	Autosomal recessive spastic paraplegia type 75	HP:0040282 - Frequent		4
HP:0000539	HP:0000540	Hypermetropia	1	MAG CL E G H	4099	6783	ORPHA:459056	Autosomal recessive spastic paraplegia type 75	HP:0040282 - Frequent		4
HP:0000539	HP:0000483	Astigmatism	1	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive	.		4
HP:0000539	HP:0000540	Hypermetropia	1	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive	.		4
HP:0000539	HP:0000545	Myopia	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040283 - Occasional		63
HP:0000539	HP:0000540	Hypermetropia	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome	.		63
HP:0000539	HP:0000545	Myopia	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0000539	HP:0000545	Myopia	1	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.		63
HP:0000539	HP:0000540	Hypermetropia	1	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040283 - Occasional		93
HP:0000539	HP:0000545	Myopia	1	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form	HP:0040283 - Occasional		136
HP:0000539	HP:0000483	Astigmatism	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional		136
HP:0000539	HP:0000540	Hypermetropia	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040282 - Frequent		136
HP:0000539	HP:0000545	Myopia	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040282 - Frequent		136
HP:0000539	HP:0000545	Myopia	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		134
HP:0000539	HP:0000545	Myopia	1	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1	.		134
HP:0000539	HP:0000545	Myopia	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		178
HP:0000539	HP:0000545	Myopia	1	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4	.		178
HP:0000539	HP:0000483	Astigmatism	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional		11
HP:0000539	HP:0000483	Astigmatism	1	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0000539	HP:0000540	Hypermetropia	1	MARK3 CL E G H	4140	6897	OMIM:618283	Visual impairment and progressive phthisis bulbi	.
HP:0000539	HP:0000483	Astigmatism	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.		252
HP:0000539	HP:0000540	Hypermetropia	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.		252
HP:0000539	HP:0000545	Myopia	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.		252
HP:0000539	HP:0000483	Astigmatism	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional		22
HP:0000539	HP:0000545	Myopia	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional		22
HP:0000539	HP:0000545	Myopia	1	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II	.		124
HP:0000539	HP:0000540	Hypermetropia	1	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0000539	HP:0000545	Myopia	1	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000539	HP:0000540	Hypermetropia	1	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000539	HP:0000540	Hypermetropia	1	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional		74
HP:0000539	HP:0000545	Myopia	1	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional		74
HP:0000539	HP:0000540	Hypermetropia	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0000539	HP:0000540	Hypermetropia	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0000539	HP:0000545	Myopia	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0000539	HP:0000540	Hypermetropia	1	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5	.		26
HP:0000539	HP:0000540	Hypermetropia	1	MFRP CL E G H	83552	18121	ORPHA:35612	Nanophthalmos			26
HP:0000539	HP:0000483	Astigmatism	1	MIR184 CL E G H	406960	31555	OMIM:614303	Edict syndrome	.		1
HP:0000539	HP:0000545	Myopia	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0000539	HP:0000540	Hypermetropia	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome	.		5
HP:0000539	HP:0000545	Myopia	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0000539	HP:0000540	Hypermetropia	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome	.
HP:0000539	HP:0000545	Myopia	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0000539	HP:0000540	Hypermetropia	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0000539	HP:0000540	Hypermetropia	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0000539	HP:0000545	Myopia	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0000539	HP:0000483	Astigmatism	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0000539	HP:0000540	Hypermetropia	1	MSX2 CL E G H	4488	7392	OMIM:604757	Craniosynostosis 2	HP:0040283 - Occasional		45
HP:0000539	HP:0000545	Myopia	1	MSX2 CL E G H	4488	7392	OMIM:604757	Craniosynostosis 2	HP:0040283 - Occasional		45
HP:0000539	HP:0000545	Myopia	1	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0000539	HP:0000483	Astigmatism	1	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0000539	HP:0000545	Myopia	1	MYO5A CL E G H	4644	7602	ORPHA:33445	Neuroectodermal melanolysosomal disease	HP:0040282 - Frequent		35
HP:0000539	HP:0000540	Hypermetropia	1	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1			516
HP:0000539	HP:0000545	Myopia	1	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2	HP:0040282 - Frequent		516
HP:0000539	HP:0000545	Myopia	1	MYOC CL E G H	4653	7610	OMIM:137750	Glaucoma 1, open angle, A	.		47
HP:0000539	HP:0000545	Myopia	1	MYOC CL E G H	4653	7610	ORPHA:98977	Juvenile glaucoma			47
HP:0000539	HP:0000545	Myopia	1	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly	HP:0040283 - Occasional		25
HP:0000539	HP:0000540	Hypermetropia	1	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly	HP:0040283 - Occasional		25
HP:0000539	HP:0000545	Myopia	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		13
HP:0000539	HP:0000540	Hypermetropia	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0000539	HP:0000545	Myopia	1	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked			39
HP:0000539	HP:0000545	Myopia	1	NDUFB11 CL E G H	54539	20372	OMIM:300952	Linear skin defects with multiple congenital anomalies 3	.		3
HP:0000539	HP:0000545	Myopia	1	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7			3
HP:0000539	HP:0000540	Hypermetropia	1	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	.		101
HP:0000539	HP:0000483	Astigmatism	1	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72	.
HP:0000539	HP:0000545	Myopia	1	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040282 - Frequent		40
HP:0000539	HP:0000540	Hypermetropia	1	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040283 - Occasional		40
HP:0000539	HP:0000545	Myopia	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0000539	HP:0000540	Hypermetropia	1	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2	.		40
HP:0000539	HP:0000483	Astigmatism	1	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2	.		40
HP:0000539	HP:0000545	Myopia	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		494
HP:0000539	HP:0000545	Myopia	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0000539	HP:0000483	Astigmatism	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0000539	HP:0000540	Hypermetropia	1	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9	.		15
HP:0000539	HP:0000545	Myopia	1	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0000539	HP:0000540	Hypermetropia	1	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0000539	HP:0000540	Hypermetropia	1	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2			22
HP:0000539	HP:0000483	Astigmatism	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1			22
HP:0000539	HP:0000540	Hypermetropia	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1			22
HP:0000539	HP:0000540	Hypermetropia	1	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes	HP:0040281 - Very frequent		22
HP:0000539	HP:0000545	Myopia	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040282 - Frequent		10
HP:0000539	HP:0000545	Myopia	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0000539	HP:0000545	Myopia	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional		138
HP:0000539	HP:0000540	Hypermetropia	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome	.		1
HP:0000539	HP:0000545	Myopia	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0000539	HP:0000545	Myopia	1	NPR3 CL E G H	4883	7945	OMIM:619543	BOUDIN-MORTIER SYNDROME; BOMOS
HP:0000539	HP:0000545	Myopia	1	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040284 - Very rare		37
HP:0000539	HP:0000540	Hypermetropia	1	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040284 - Very rare		37
HP:0000539	HP:0000545	Myopia	1	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0000539	HP:0000545	Myopia	1	NSD1 CL E G H	64324	14234	ORPHA:228415	5q35 microduplication syndrome	HP:0040282 - Frequent		544
HP:0000539	HP:0000483	Astigmatism	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent		544
HP:0000539	HP:0000545	Myopia	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		544
HP:0000539	HP:0000540	Hypermetropia	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		544
HP:0000539	HP:0000540	Hypermetropia	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0000539	HP:0000545	Myopia	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional		84
HP:0000539	HP:0000545	Myopia	1	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45	HP:0040283 - Occasional		15
HP:0000539	HP:0000545	Myopia	1	NT5C2 CL E G H	22978	8022	OMIM:613162	Spastic paraplegia 45, autosomal recessive	.		15
HP:0000539	HP:0000545	Myopia	1	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		42
HP:0000539	HP:0000540	Hypermetropia	1	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		42
HP:0000539	HP:0000545	Myopia	1	NYX CL E G H	60506	8082	OMIM:310500	Night blindness, congenital stationary, type 1A	.		42
HP:0000539	HP:0000545	Myopia	1	OAT CL E G H	4942	8091	ORPHA:414	Gyrate atrophy of choroid and retina	HP:0040281 - Very frequent		94
HP:0000539	HP:0000545	Myopia	1	OAT CL E G H	4942	8091	OMIM:258870	Ornithine aminotransferase deficiency	.		94
HP:0000539	HP:0000545	Myopia	1	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II	.		121
HP:0000539	HP:0000545	Myopia	1	OFD1 CL E G H	8481	2567	OMIM:300424	Retinitis pigmentosa 23			201
HP:0000539	HP:0000540	Hypermetropia	1	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0000539	HP:0000545	Myopia	1	OPN1LW CL E G H	5956	9936	OMIM:303700	Blue cone monochromacy	.		7
HP:0000539	HP:0000545	Myopia	1	OPN1MW CL E G H	2652	4206	OMIM:303700	Blue cone monochromacy	.		5
HP:0000539	HP:0000545	Myopia	1	OPTN CL E G H	10133	17142	OMIM:137760	Glaucoma, primary open angle	.		62
HP:0000539	HP:0000540	Hypermetropia	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000539	HP:0000483	Astigmatism	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000539	HP:0000540	Hypermetropia	1	OTX2 CL E G H	5015	8522	ORPHA:35612	Nanophthalmos			41
HP:0000539	HP:0000483	Astigmatism	1	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		4
HP:0000539	HP:0000545	Myopia	1	P3H2 CL E G H	55214	19317	OMIM:614292	Myopia, high, with cataract and vitreoretinal degeneration			5
HP:0000539	HP:0000545	Myopia	1	P4HA2 CL E G H	8974	8547	OMIM:617238	Myopia 25, autosomal dominant			3
HP:0000539	HP:0000483	Astigmatism	1	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0000539	HP:0000545	Myopia	1	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	.
HP:0000539	HP:0000540	Hypermetropia	1	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0000539	HP:0000545	Myopia	1	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome	.		24
HP:0000539	HP:0000545	Myopia	1	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66	.
HP:0000539	HP:0000483	Astigmatism	1	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66	.
HP:0000539	HP:0000540	Hypermetropia	1	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66	.
HP:0000539	HP:0000545	Myopia	1	PAK2 CL E G H	5062	8591	OMIM:618458
HP:0000539	HP:0000545	Myopia	1	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome	HP:0040281 - Very frequent
HP:0000539	HP:0000483	Astigmatism	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1349
HP:0000539	HP:0000545	Myopia	1	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome			39
HP:0000539	HP:0000545	Myopia	1	PAX2 CL E G H	5076	8616	ORPHA:1475	Renal coloboma syndrome	HP:0040282 - Frequent		39
HP:0000539	HP:0000483	Astigmatism	1	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral			39
HP:0000539	HP:0000540	Hypermetropia	1	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral			39
HP:0000539	HP:0000483	Astigmatism	1	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral			3
HP:0000539	HP:0000540	Hypermetropia	1	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral			3
HP:0000539	HP:0000540	Hypermetropia	1	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1			352
HP:0000539	HP:0000540	Hypermetropia	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.		531
HP:0000539	HP:0000540	Hypermetropia	1	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional		113
HP:0000539	HP:0000540	Hypermetropia	1	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		126
HP:0000539	HP:0000545	Myopia	1	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		126
HP:0000539	HP:0000540	Hypermetropia	1	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		80
HP:0000539	HP:0000545	Myopia	1	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		80
HP:0000539	HP:0000545	Myopia	1	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		14
HP:0000539	HP:0000540	Hypermetropia	1	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		14
HP:0000539	HP:0000545	Myopia	1	PDE6H CL E G H	5149	8790	OMIM:610024	Retinal cone dystrophy 3A			14
HP:0000539	HP:0000540	Hypermetropia	1	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type	.		28
HP:0000539	HP:0000540	Hypermetropia	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0000539	HP:0000545	Myopia	1	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2	HP:0040282 - Frequent		40
HP:0000539	HP:0000483	Astigmatism	1	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0000539	HP:0000545	Myopia	1	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0000539	HP:0000540	Hypermetropia	1	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0000539	HP:0000540	Hypermetropia	1	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		20
HP:0000539	HP:0000540	Hypermetropia	1	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features	.		11
HP:0000539	HP:0000540	Hypermetropia	1	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome			11
HP:0000539	HP:0000540	Hypermetropia	1	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	HP:0040283 - Occasional		77
HP:0000539	HP:0000483	Astigmatism	1	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	.		77
HP:0000539	HP:0000540	Hypermetropia	1	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome	HP:0040283 - Occasional		7
HP:0000539	HP:0000540	Hypermetropia	1	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		36
HP:0000539	HP:0000540	Hypermetropia	1	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		84
HP:0000539	HP:0000483	Astigmatism	1	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4			3
HP:0000539	HP:0000540	Hypermetropia	1	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040282 - Frequent		12
HP:0000539	HP:0000483	Astigmatism	1	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional		12
HP:0000539	HP:0000545	Myopia	1	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional		12
HP:0000539	HP:0000540	Hypermetropia	1	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.		12
HP:0000539	HP:0000540	Hypermetropia	1	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000539	HP:0000540	Hypermetropia	1	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		57
HP:0000539	HP:0000540	Hypermetropia	1	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		6
HP:0000539	HP:0000540	Hypermetropia	1	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		2
HP:0000539	HP:0000545	Myopia	1	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		162
HP:0000539	HP:0000545	Myopia	1	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5	.		162
HP:0000539	HP:0000545	Myopia	1	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.		43
HP:0000539	HP:0000483	Astigmatism	1	PITX2 CL E G H	5308	9005	OMIM:180550	Ring dermoid of cornea			51
HP:0000539	HP:0000545	Myopia	1	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	.		105
HP:0000539	HP:0000545	Myopia	1	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040283 - Occasional		105
HP:0000539	HP:0000540	Hypermetropia	1	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040283 - Occasional		105
HP:0000539	HP:0000545	Myopia	1	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.		5
HP:0000539	HP:0000545	Myopia	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional		150
HP:0000539	HP:0000545	Myopia	1	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20			3
HP:0000539	HP:0000540	Hypermetropia	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome	.		35
HP:0000539	HP:0000545	Myopia	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome	.		35
HP:0000539	HP:0000540	Hypermetropia	1	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040282 - Frequent		35
HP:0000539	HP:0000545	Myopia	1	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040283 - Occasional		35
HP:0000539	HP:0000483	Astigmatism	1	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040283 - Occasional		35
HP:0000539	HP:0000483	Astigmatism	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome	.		35
HP:0000539	HP:0000545	Myopia	1	POLR1C CL E G H	9533	20194	OMIM:616494	Leukodystrophy, hypomyelinating, 11	HP:0040283 - Occasional		38
HP:0000539	HP:0000545	Myopia	1	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.		138
HP:0000539	HP:0000545	Myopia	1	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome	HP:0040282 - Frequent		138
HP:0000539	HP:0000545	Myopia	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent		138
HP:0000539	HP:0000540	Hypermetropia	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent		138
HP:0000539	HP:0000545	Myopia	1	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.		67
HP:0000539	HP:0000545	Myopia	1	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism	.		67
HP:0000539	HP:0000483	Astigmatism	1	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0000539	HP:0000545	Myopia	1	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional		180
HP:0000539	HP:0000545	Myopia	1	POMGNT1 CL E G H	55624	19139	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		180
HP:0000539	HP:0000545	Myopia	1	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3			180
HP:0000539	HP:0000545	Myopia	1	POMGNT1 CL E G H	55624	19139	OMIM:613151	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3	.		180
HP:0000539	HP:0000545	Myopia	1	POMGNT1 CL E G H	55624	19139	OMIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3	.		180
HP:0000539	HP:0000545	Myopia	1	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional		18
HP:0000539	HP:0000545	Myopia	1	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional		213
HP:0000539	HP:0000545	Myopia	1	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		213
HP:0000539	HP:0000545	Myopia	1	POMT1 CL E G H	10585	9202	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		213
HP:0000539	HP:0000545	Myopia	1	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		213
HP:0000539	HP:0000545	Myopia	1	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	HP:0040283 - Occasional		213
HP:0000539	HP:0000545	Myopia	1	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional		221
HP:0000539	HP:0000545	Myopia	1	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		221
HP:0000539	HP:0000545	Myopia	1	POMT2 CL E G H	29954	19743	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		221
HP:0000539	HP:0000545	Myopia	1	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		221
HP:0000539	HP:0000540	Hypermetropia	1	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2	.		221
HP:0000539	HP:0000545	Myopia	1	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2	.		221
HP:0000539	HP:0000545	Myopia	1	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2	.		221
HP:0000539	HP:0000540	Hypermetropia	1	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	.		22
HP:0000539	HP:0000540	Hypermetropia	1	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000539	HP:0000483	Astigmatism	1	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000539	HP:0000545	Myopia	1	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000539	HP:0000483	Astigmatism	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare		10
HP:0000539	HP:0000545	Myopia	1	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35	.		10
HP:0000539	HP:0000540	Hypermetropia	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome	.		28
HP:0000539	HP:0000540	Hypermetropia	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0000539	HP:0000545	Myopia	1	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome			58
HP:0000539	HP:0000545	Myopia	1	PRDM5 CL E G H	11107	9349	OMIM:614170	Brittle cornea syndrome 2	.		58
HP:0000539	HP:0000545	Myopia	1	PRIMPOL CL E G H	201973	26575	OMIM:615420	Myopia 22, autosomal dominant	.		1
HP:0000539	HP:0000483	Astigmatism	1	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0000539	HP:0000540	Hypermetropia	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0000539	HP:0000483	Astigmatism	1	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	.		6
HP:0000539	HP:0000540	Hypermetropia	1	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity			49
HP:0000539	HP:0000545	Myopia	1	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity			49
HP:0000539	HP:0000545	Myopia	1	PRPS1 CL E G H	5631	9462	ORPHA:411543	Severe phosphoribosylpyrophosphate synthetase superactivity	HP:0040284 - Very rare		49
HP:0000539	HP:0000540	Hypermetropia	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0000539	HP:0000545	Myopia	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0000539	HP:0000540	Hypermetropia	1	PRSS56 CL E G H	646960	39433	OMIM:613517	Microphthalmia, isolated 6			11
HP:0000539	HP:0000540	Hypermetropia	1	PRSS56 CL E G H	646960	39433	ORPHA:35612	Nanophthalmos			11
HP:0000539	HP:0000545	Myopia	1	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent		4
HP:0000539	HP:0000545	Myopia	1	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		948
HP:0000539	HP:0000545	Myopia	1	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.		948
HP:0000539	HP:0000545	Myopia	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional		948
HP:0000539	HP:0000545	Myopia	1	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome	HP:0040281 - Very frequent		948
HP:0000539	HP:0000545	Myopia	1	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1	.		291
HP:0000539	HP:0000540	Hypermetropia	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional		19
HP:0000539	HP:0000545	Myopia	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional		19
HP:0000539	HP:0000545	Myopia	1	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	HP:0040283 - Occasional		53
HP:0000539	HP:0000545	Myopia	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0000539	HP:0000540	Hypermetropia	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome	.
HP:0000539	HP:0000545	Myopia	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0000539	HP:0000540	Hypermetropia	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome	.
HP:0000539	HP:0000540	Hypermetropia	1	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	.
HP:0000539	HP:0000545	Myopia	1	RAB28 CL E G H	9364	9768	OMIM:615374	Cone-Rod dystrophy 18			6
HP:0000539	HP:0000545	Myopia	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		25
HP:0000539	HP:0000540	Hypermetropia	1	RAD50 CL E G H	10111	9816	OMIM:613078	NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD			789
HP:0000539	HP:0000483	Astigmatism	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		9
HP:0000539	HP:0000483	Astigmatism	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		391
HP:0000539	HP:0000540	Hypermetropia	1	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome			150
HP:0000539	HP:0000545	Myopia	1	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent		150
HP:0000539	HP:0000540	Hypermetropia	1	RAX CL E G H	30062	18662	ORPHA:35612	Nanophthalmos			43
HP:0000539	HP:0000545	Myopia	1	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040283 - Occasional		16
HP:0000539	HP:0000545	Myopia	1	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.		445
HP:0000539	HP:0000540	Hypermetropia	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0000539	HP:0012803	Anisometropia	1	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional		16
HP:0000539	HP:0000545	Myopia	1	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional		16
HP:0000539	HP:0000483	Astigmatism	1	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional		16
HP:0000539	HP:0000540	Hypermetropia	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000539	HP:0000545	Myopia	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000539	HP:0000483	Astigmatism	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0000539	HP:0000540	Hypermetropia	1	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		107
HP:0000539	HP:0000545	Myopia	1	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		107
HP:0000539	HP:0000545	Myopia	1	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB			8
HP:0000539	HP:0000483	Astigmatism	1	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB			8
HP:0000539	HP:0000545	Myopia	1	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome			43
HP:0000539	HP:0000545	Myopia	1	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome			43
HP:0000539	HP:0000540	Hypermetropia	1	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0000539	HP:0000545	Myopia	1	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040282 - Frequent		37
HP:0000539	HP:0000483	Astigmatism	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0000539	HP:0000545	Myopia	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0000539	HP:0000483	Astigmatism	1	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0000539	HP:0000483	Astigmatism	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:1824	Lowry-Wood syndrome	HP:0040283 - Occasional		15
HP:0000539	HP:0000483	Astigmatism	1	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1			90
HP:0000539	HP:0000540	Hypermetropia	1	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA			1
HP:0000539	HP:0000545	Myopia	1	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1	.		111
HP:0000539	HP:0000545	Myopia	1	RP2 CL E G H	6102	10274	OMIM:312600	Retinitis pigmentosa 2, X-linked	.		45
HP:0000539	HP:0000545	Myopia	1	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional		129
HP:0000539	HP:0000545	Myopia	1	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		200
HP:0000539	HP:0000540	Hypermetropia	1	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		200
HP:0000539	HP:0000545	Myopia	1	RPGR CL E G H	6103	10295	OMIM:304020	Cone-rod dystrophy, X-linked, 1			200
HP:0000539	HP:0000545	Myopia	1	RPGR CL E G H	6103	10295	OMIM:300029	Retinitis pigmentosa 3			200
HP:0000539	HP:0000540	Hypermetropia	1	RPGRIP1 CL E G H	57096	13436	OMIM:613826	Leber congenital amaurosis 6			109
HP:0000539	HP:0000540	Hypermetropia	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0000539	HP:0000545	Myopia	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0000539	HP:0000545	Myopia	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional		10
HP:0000539	HP:0000540	Hypermetropia	1	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0000539	HP:0000540	Hypermetropia	1	RS1 CL E G H	6247	10457	OMIM:312700	Retinoschisis 1, X-linked, juvenile			148
HP:0000539	HP:0000545	Myopia	1	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		32
HP:0000539	HP:0000540	Hypermetropia	1	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		32
HP:0000539	HP:0000545	Myopia	1	SAG CL E G H	6295	10521	ORPHA:75382	Oguchi disease	HP:0040283 - Occasional		32
HP:0000539	HP:0000540	Hypermetropia	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000539	HP:0000540	Hypermetropia	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040282 - Frequent		34
HP:0000539	HP:0000545	Myopia	1	SCO2 CL E G H	9997	10604	OMIM:608908	Myopia 6	.		40
HP:0000539	HP:0000483	Astigmatism	1	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2			1
HP:0000539	HP:0000545	Myopia	1	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		237
HP:0000539	HP:0000545	Myopia	1	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		147
HP:0000539	HP:0000545	Myopia	1	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		129
HP:0000539	HP:0000545	Myopia	1	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		60
HP:0000539	HP:0000483	Astigmatism	1	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0000539	HP:0000545	Myopia	1	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0000539	HP:0000540	Hypermetropia	1	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0000539	HP:0000483	Astigmatism	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent		60
HP:0000539	HP:0000540	Hypermetropia	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		60
HP:0000539	HP:0000545	Myopia	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		60
HP:0000539	HP:0000540	Hypermetropia	1	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040283 - Occasional		43
HP:0000539	HP:0000545	Myopia	1	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040283 - Occasional		43
HP:0000539	HP:0000483	Astigmatism	1	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0000539	HP:0000545	Myopia	1	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0000539	HP:0000540	Hypermetropia	1	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040283 - Occasional		53
HP:0000539	HP:0000483	Astigmatism	1	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0000539	HP:0000540	Hypermetropia	1	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0000539	HP:0000545	Myopia	1	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0000539	HP:0000540	Hypermetropia	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000539	HP:0000540	Hypermetropia	1	SIX6 CL E G H	4990	10892	ORPHA:35612	Nanophthalmos			20
HP:0000539	HP:0000540	Hypermetropia	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0000539	HP:0000545	Myopia	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0000539	HP:0000545	Myopia	1	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional		150
HP:0000539	HP:0000545	Myopia	1	SLC12A6 CL E G H	9990	10914	ORPHA:1496	Corpus callosum agenesis-neuronopathy syndrome	HP:0040283 - Occasional		163
HP:0000539	HP:0000540	Hypermetropia	1	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		66
HP:0000539	HP:0000545	Myopia	1	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		66
HP:0000539	HP:0000540	Hypermetropia	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0000539	HP:0000483	Astigmatism	1	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome	HP:0040282 - Frequent
HP:0000539	HP:0000545	Myopia	1	SLC25A4 CL E G H	291	10990	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome	HP:0040282 - Frequent		68
HP:0000539	HP:0000545	Myopia	1	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional		178
HP:0000539	HP:0012803	Anisometropia	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040283 - Occasional		27
HP:0000539	HP:0000545	Myopia	1	SLC39A5 CL E G H	283375	20502	OMIM:615946	Myopia 24, autosomal dominant	.		2
HP:0000539	HP:0000483	Astigmatism	1	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN	.		11
HP:0000539	HP:0000540	Hypermetropia	1	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040283 - Occasional		11
HP:0000539	HP:0000483	Astigmatism	1	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040283 - Occasional		11
HP:0000539	HP:0000483	Astigmatism	1	SLC4A11 CL E G H	83959	16438	ORPHA:293603	Congenital hereditary endothelial dystrophy type II			66
HP:0000539	HP:0000540	Hypermetropia	1	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0000539	HP:0000540	Hypermetropia	1	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	.		122
HP:0000539	HP:0000545	Myopia	1	SLITRK6 CL E G H	84189	23503	OMIM:221200	Deafness and myopia	.		4
HP:0000539	HP:0000483	Astigmatism	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		274
HP:0000539	HP:0000540	Hypermetropia	1	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome			504
HP:0000539	HP:0000540	Hypermetropia	1	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	.		504
HP:0000539	HP:0000545	Myopia	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		617
HP:0000539	HP:0000545	Myopia	1	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.		74
HP:0000539	HP:0000483	Astigmatism	1	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.		74
HP:0000539	HP:0000545	Myopia	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		87
HP:0000539	HP:0000545	Myopia	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		1
HP:0000539	HP:0000545	Myopia	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0000539	HP:0000545	Myopia	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		47
HP:0000539	HP:0000545	Myopia	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		135
HP:0000539	HP:0000545	Myopia	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		91
HP:0000539	HP:0000545	Myopia	1	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0000539	HP:0000483	Astigmatism	1	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000539	HP:0000545	Myopia	1	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type			19
HP:0000539	HP:0000545	Myopia	1	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0000539	HP:0000540	Hypermetropia	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome	.
HP:0000539	HP:0000545	Myopia	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0000539	HP:0000540	Hypermetropia	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome	.
HP:0000539	HP:0000545	Myopia	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0000539	HP:0000545	Myopia	1	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome	.		37
HP:0000539	HP:0000545	Myopia	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional		37
HP:0000539	HP:0000540	Hypermetropia	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional		37
HP:0000539	HP:0000540	Hypermetropia	1	SOBP CL E G H	55084	29256	OMIM:613671	Mental retardation, anterior maxillary protrusion, and strabismus	HP:0040283 - Occasional		29
HP:0000539	HP:0000540	Hypermetropia	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040282 - Frequent		12
HP:0000539	HP:0000545	Myopia	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0000539	HP:0000540	Hypermetropia	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0000539	HP:0000545	Myopia	1	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0000539	HP:0000545	Myopia	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		14
HP:0000539	HP:0000540	Hypermetropia	1	SOX2 CL E G H	6657	11195	ORPHA:35612	Nanophthalmos			33
HP:0000539	HP:0000545	Myopia	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0000539	HP:0000545	Myopia	1	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency	HP:0040282 - Frequent		11
HP:0000539	HP:0000545	Myopia	1	SOX5 CL E G H	6660	11201	OMIM:616803	Lamb-Shaffer syndrome	.		11
HP:0000539	HP:0000545	Myopia	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0000539	HP:0000545	Myopia	1	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional		48
HP:0000539	HP:0000540	Hypermetropia	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0000539	HP:0000545	Myopia	1	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA			138
HP:0000539	HP:0000540	Hypermetropia	1	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA			138
HP:0000539	HP:0000540	Hypermetropia	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional		138
HP:0000539	HP:0000540	Hypermetropia	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	HP:0040283 - Occasional		138
HP:0000539	HP:0000540	Hypermetropia	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000539	HP:0000545	Myopia	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000539	HP:0000483	Astigmatism	1	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040282 - Frequent		237
HP:0000539	HP:0000540	Hypermetropia	1	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type	.		1129
HP:0000539	HP:0000540	Hypermetropia	1	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0000539	HP:0000540	Hypermetropia	1	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional		1
HP:0000539	HP:0000545	Myopia	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0000539	HP:0000540	Hypermetropia	1	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000539	HP:0000483	Astigmatism	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000539	HP:0000545	Myopia	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000539	HP:0000540	Hypermetropia	1	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000539	HP:0000540	Hypermetropia	1	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11	.
HP:0000539	HP:0000545	Myopia	1	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0000539	HP:0000545	Myopia	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional		271
HP:0000539	HP:0000483	Astigmatism	1	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
HP:0000539	HP:0000545	Myopia	1	TBC1D7 CL E G H	51256	21066	OMIM:248000	Macrocephaly/megalencephaly syndrome, autosomal recessive	HP:0040283 - Occasional		4
HP:0000539	HP:0000483	Astigmatism	1	TBC1D7 CL E G H	51256	21066	OMIM:248000	Macrocephaly/megalencephaly syndrome, autosomal recessive	HP:0040283 - Occasional		4
HP:0000539	HP:0000483	Astigmatism	1	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome	HP:0040283 - Occasional		52
HP:0000539	HP:0000540	Hypermetropia	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000539	HP:0000545	Myopia	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000539	HP:0000545	Myopia	1	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities	.		1
HP:0000539	HP:0000483	Astigmatism	1	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040281 - Very frequent		241
HP:0000539	HP:0000483	Astigmatism	1	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome	.		241
HP:0000539	HP:0000545	Myopia	1	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040281 - Very frequent		241
HP:0000539	HP:0000545	Myopia	1	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome	.		241
HP:0000539	HP:0000540	Hypermetropia	1	TCTN2 CL E G H	79867	25774	OMIM:616654	Joubert syndrome 24	.		76
HP:0000539	HP:0000483	Astigmatism	1	TEAD1 CL E G H	7003	11714	OMIM:108985	Sveinsson chorioretinal atrophy	.		1
HP:0000539	HP:0000545	Myopia	1	TEAD1 CL E G H	7003	11714	OMIM:108985	Sveinsson chorioretinal atrophy	.		1
HP:0000539	HP:0000545	Myopia	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.		12
HP:0000539	HP:0000545	Myopia	1	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome	HP:0040283 - Occasional		104
HP:0000539	HP:0000545	Myopia	1	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000539	HP:0000483	Astigmatism	1	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000539	HP:0000483	Astigmatism	1	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I	HP:0040282 - Frequent		58
HP:0000539	HP:0000545	Myopia	1	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I			58
HP:0000539	HP:0000483	Astigmatism	1	TGFBI CL E G H	7045	11771	ORPHA:98960	Thiel-Behnke corneal dystrophy	HP:0040283 - Occasional		58
HP:0000539	HP:0000540	Hypermetropia	1	TGM5 CL E G H	9333	11781	ORPHA:263534	Acral peeling skin syndrome			44
HP:0000539	HP:0000545	Myopia	1	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0000539	HP:0000545	Myopia	1	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome	.		1
HP:0000539	HP:0000545	Myopia	1	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome	.		15
HP:0000539	HP:0000545	Myopia	1	TKFC CL E G H	26007	24552	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome	HP:0040282 - Frequent
HP:0000539	HP:0000545	Myopia	1	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0000539	HP:0000545	Myopia	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000539	HP:0000540	Hypermetropia	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000539	HP:0000545	Myopia	1	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0000539	HP:0000545	Myopia	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.		1
HP:0000539	HP:0000540	Hypermetropia	1	TMEM98 CL E G H	26022	24529	ORPHA:35612	Nanophthalmos			3
HP:0000539	HP:0000540	Hypermetropia	1	TMEM98 CL E G H	26022	24529	OMIM:615972	Nanophthalmos 4			3
HP:0000539	HP:0000545	Myopia	1	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000539	HP:0000483	Astigmatism	1	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000539	HP:0000540	Hypermetropia	1	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000539	HP:0000545	Myopia	1	TRAPPC11 CL E G H	60684	25751	ORPHA:369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome	HP:0040283 - Occasional		27
HP:0000539	HP:0000545	Myopia	1	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18	.		27
HP:0000539	HP:0000483	Astigmatism	1	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism	.		78
HP:0000539	HP:0000545	Myopia	1	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35	.		12
HP:0000539	HP:0000483	Astigmatism	1	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3	HP:0040282 - Frequent
HP:0000539	HP:0000540	Hypermetropia	1	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3
HP:0000539	HP:0000545	Myopia	1	TRNT1 CL E G H	51095	17341	OMIM:616959	Retinitis pigmentosa and erythrocytic microcytosis			28
HP:0000539	HP:0000545	Myopia	1	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		104
HP:0000539	HP:0000540	Hypermetropia	1	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		104
HP:0000539	HP:0000545	Myopia	1	TRPM1 CL E G H	4308	7146	OMIM:613216	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C			104
HP:0000539	HP:0000540	Hypermetropia	1	TRPV4 CL E G H	59341	18083	OMIM:113500	Brachyolmia type 3	.		214
HP:0000539	HP:0000545	Myopia	1	TSPAN7 CL E G H	7102	11854	OMIM:300210	MENTAL RETARDATION, X-LINKED 58; MRX58			26
HP:0000539	HP:0000545	Myopia	1	TTC8 CL E G H	123016	20087	OMIM:613464	Retinitis pigmentosa 51			41
HP:0000539	HP:0000545	Myopia	1	TTLL5 CL E G H	23093	19963	OMIM:615860	Cone-Rod dystrophy 19			9
HP:0000539	HP:0000483	Astigmatism	1	TUB CL E G H	7275	12406	OMIM:616188	Retinal dystrophy and obesity	.		1
HP:0000539	HP:0000545	Myopia	1	TUB CL E G H	7275	12406	OMIM:616188	Retinal dystrophy and obesity	.		1
HP:0000539	HP:0000540	Hypermetropia	1	TUBB4B CL E G H	10383	20771	OMIM:617879	Leber congenital amaurosis with early-onset deafness
HP:0000539	HP:0000545	Myopia	1	TULP1 CL E G H	7287	12423	OMIM:613843	Leber congenital amaurosis 15	.		66
HP:0000539	HP:0000540	Hypermetropia	1	TULP1 CL E G H	7287	12423	OMIM:613843	Leber congenital amaurosis 15	HP:0040283 - Occasional		66
HP:0000539	HP:0000545	Myopia	1	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040282 - Frequent		7
HP:0000539	HP:0000545	Myopia	1	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA	.		146
HP:0000539	HP:0000483	Astigmatism	1	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA	.		146
HP:0000539	HP:0000483	Astigmatism	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		2
HP:0000539	HP:0000545	Myopia	1	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome	.		278
HP:0000539	HP:0000545	Myopia	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome	.		13
HP:0000539	HP:0000483	Astigmatism	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome	.		13
HP:0000539	HP:0000545	Myopia	1	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040282 - Frequent		13
HP:0000539	HP:0000540	Hypermetropia	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0000539	HP:0000545	Myopia	1	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive	.		21
HP:0000539	HP:0000545	Myopia	1	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		1
HP:0000539	HP:0000540	Hypermetropia	1	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1			173
HP:0000539	HP:0000540	Hypermetropia	1	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1			78
HP:0000539	HP:0000545	Myopia	1	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2	HP:0040282 - Frequent		777
HP:0000539	HP:0000545	Myopia	1	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0000539	HP:0000540	Hypermetropia	1	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted	.		27
HP:0000539	HP:0000545	Myopia	1	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted	.		27
HP:0000539	HP:0000483	Astigmatism	1	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted	.		27
HP:0000539	HP:0000540	Hypermetropia	1	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional		27
HP:0000539	HP:0000483	Astigmatism	1	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional		27
HP:0000539	HP:0000545	Myopia	1	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional		27
HP:0000539	HP:0000545	Myopia	1	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	.
HP:0000539	HP:0000483	Astigmatism	1	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	.
HP:0000539	HP:0000545	Myopia	1	VCAN CL E G H	1462	2464	OMIM:143200	Wagner vitreoretinopathy	.		180
HP:0000539	HP:0000545	Myopia	1	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome			546
HP:0000539	HP:0000545	Myopia	1	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040281 - Very frequent		546
HP:0000539	HP:0000540	Hypermetropia	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000539	HP:0000545	Myopia	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000539	HP:0000545	Myopia	1	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0000539	HP:0000483	Astigmatism	1	VSX1 CL E G H	30813	12723	OMIM:148300	Keratoconus 1	.		47
HP:0000539	HP:0000483	Astigmatism	1	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		47
HP:0000539	HP:0000483	Astigmatism	1	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome	.		20
HP:0000539	HP:0000545	Myopia	1	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome	.		20
HP:0000539	HP:0000545	Myopia	1	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	HP:0040283 - Occasional		20
HP:0000539	HP:0000483	Astigmatism	1	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	HP:0040282 - Frequent		20
HP:0000539	HP:0000540	Hypermetropia	1	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	HP:0040283 - Occasional		20
HP:0000539	HP:0000540	Hypermetropia	1	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia			95
HP:0000539	HP:0000545	Myopia	1	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia	HP:0040283 - Occasional		95
HP:0000539	HP:0000540	Hypermetropia	1	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4	.		95
HP:0000539	HP:0000545	Myopia	1	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly	.		95
HP:0000539	HP:0000540	Hypermetropia	1	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040283 - Occasional		8
HP:0000539	HP:0000545	Myopia	1	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040283 - Occasional		8
HP:0000539	HP:0000545	Myopia	1	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia	HP:0040283 - Occasional		136
HP:0000539	HP:0000540	Hypermetropia	1	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia			136
HP:0000539	HP:0000540	Hypermetropia	1	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0000539	HP:0000545	Myopia	1	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2	HP:0040282 - Frequent		155
HP:0000539	HP:0000483	Astigmatism	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		125
HP:0000539	HP:0000545	Myopia	1	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG	HP:0040283 - Occasional		14
HP:0000539	HP:0000545	Myopia	1	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome	HP:0040283 - Occasional		5
HP:0000539	HP:0000545	Myopia	1	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11	.		2
HP:0000539	HP:0000540	Hypermetropia	1	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11	.		2
HP:0000539	HP:0000540	Hypermetropia	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional		7
HP:0000539	HP:0000483	Astigmatism	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional		7
HP:0000539	HP:0000483	Astigmatism	1	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0000539	HP:0000540	Hypermetropia	1	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0000539	HP:0000483	Astigmatism	1	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		8
HP:0000539	HP:0000545	Myopia	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional		362
HP:0000539	HP:0000483	Astigmatism	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional		362
HP:0000539	HP:0000483	Astigmatism	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional		362
HP:0000539	HP:0000545	Myopia	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional		362
HP:0000539	HP:0000540	Hypermetropia	1	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0000539	HP:0000483	Astigmatism	1	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0000539	HP:0012803	Anisometropia	1	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0000539	HP:0000545	Myopia	1	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0000539	HP:0000483	Astigmatism	1	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000539	HP:0000540	Hypermetropia	1	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000539	HP:0000540	Hypermetropia	1	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	.		4
HP:0000539	HP:0000545	Myopia	1	ZNF408 CL E G H	79797	20041	OMIM:616468	Exudative vitreoretinopathy 6	.		14
HP:0000539	HP:0000545	Myopia	1	ZNF408 CL E G H	79797	20041	OMIM:616469	Retinitis pigmentosa 72			14
HP:0000539	HP:0000545	Myopia	1	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome			397
HP:0000539	HP:0000545	Myopia	1	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome	.		397
HP:0000539	HP:0000545	Myopia	1	ZNF644 CL E G H	84146	29222	OMIM:614167	Myopia 21, autosomal dominant			5
HP:0000539	HP:0000545	Myopia	1	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis	HP:0040283 - Occasional		5
HP:0000539	HP:0000545	Myopia	1	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040283 - Occasional		5
HP:0000539	HP:0031730	Axial myopia	2	CL E G H
HP:0000539	HP:0500066	Latent myopia	2	CL E G H
HP:0000539	HP:0031728	Mild hypermetropia	2	CL E G H
HP:0000539	HP:0031791	Lenticular astigmatism	2	CL E G H
HP:0000539	HP:0031789	Against the rule astigmatism	2	CL E G H
HP:0000539	HP:0031788	With the rule astigmatism	2	CL E G H
HP:0000539	HP:0031787	Oblique astigmatism	2	CL E G H
HP:0000539	HP:0011003	High myopia	2	ADAMTS10 CL E G H	81794	13201	ORPHA:3449	Weill-Marchesani syndrome	HP:0040281 - Very frequent		63
HP:0000539	HP:0011003	High myopia	2	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1			63
HP:0000539	HP:0011003	High myopia	2	ADAMTSL4 CL E G H	54507	19706	OMIM:225200	Ectopia lentis et pupillae	HP:0040283 - Occasional		84
HP:0000539	HP:0031790	Mixed astigmatism	2	AGBL5 CL E G H	60509	26147	OMIM:617023	Retinitis pigmentosa 75	.		2
HP:0000539	HP:0025573	Mild myopia	2	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040283 - Occasional		36
HP:0000539	HP:0008499	High hypermetropia	2	ALDH1A3 CL E G H	220	409	ORPHA:35612	Nanophthalmos	HP:0040281 - Very frequent		10
HP:0000539	HP:0500041	Myopic astigmatism	2	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0000539	HP:0011003	High myopia	2	ARR3 CL E G H	407	710	OMIM:301010	MYOPIA 26, X-LINKED, FEMALE-LIMITED; MYP26			1
HP:0000539	HP:0008499	High hypermetropia	2	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3	HP:0040282 - Frequent
HP:0000539	HP:0011003	High myopia	2	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs			4
HP:0000539	HP:0011003	High myopia	2	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040283 - Occasional		145
HP:0000539	HP:0011003	High myopia	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		140
HP:0000539	HP:0011003	High myopia	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent		140
HP:0000539	HP:0011003	High myopia	2	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		3
HP:0000539	HP:0011003	High myopia	2	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		2
HP:0000539	HP:0011003	High myopia	2	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG			85
HP:0000539	HP:0011003	High myopia	2	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0000539	HP:0008499	High hypermetropia	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000539	HP:0008499	High hypermetropia	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000539	HP:0008499	High hypermetropia	2	BEST1 CL E G H	7439	12703	ORPHA:35612	Nanophthalmos	HP:0040281 - Very frequent		182
HP:0000539	HP:0008499	High hypermetropia	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000539	HP:0008499	High hypermetropia	2	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		3
HP:0000539	HP:0008499	High hypermetropia	2	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1	HP:0040282 - Frequent		636
HP:0000539	HP:0008499	High hypermetropia	2	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3	HP:0040282 - Frequent		9
HP:0000539	HP:0000484	Hyperopic astigmatism	2	CHST6 CL E G H	4166	6938	ORPHA:98969	Macular corneal dystrophy	HP:0040283 - Occasional		129
HP:0000539	HP:0008499	High hypermetropia	2	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1	HP:0040282 - Frequent		15
HP:0000539	HP:0008499	High hypermetropia	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000539	HP:0008499	High hypermetropia	2	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3	HP:0040282 - Frequent		60
HP:0000539	HP:0500041	Myopic astigmatism	2	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2			82
HP:0000539	HP:0011003	High myopia	2	CNGB3 CL E G H	54714	2153	OMIM:262300	Achromatopsia 3	.		194
HP:0000539	HP:0008499	High hypermetropia	2	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome			61
HP:0000539	HP:0011003	High myopia	2	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome	HP:0040282 - Frequent		215
HP:0000539	HP:0025573	Mild myopia	2	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia	HP:0040284 - Very rare		222
HP:0000539	HP:0031792	Irregular astigmatism	2	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy	HP:0040282 - Frequent		129
HP:0000539	HP:0011003	High myopia	2	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1	.		177
HP:0000539	HP:0500041	Myopic astigmatism	2	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040283 - Occasional		243
HP:0000539	HP:0011003	High myopia	2	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040281 - Very frequent		284
HP:0000539	HP:0011003	High myopia	2	COL9A1 CL E G H	1297	2217	OMIM:614134	STICKLER SYNDROME, TYPE IV; STL4			110
HP:0000539	HP:0011003	High myopia	2	COL9A2 CL E G H	1298	2218	OMIM:614284	Stickler syndrome, type V	.		110
HP:0000539	HP:0031624	Moderate myopia	2	COL9A3 CL E G H	1299	2219	OMIM:620022				137
HP:0000539	HP:0011003	High myopia	2	COL9A3 CL E G H	1299	2219	OMIM:620022				137
HP:0000539	HP:0011003	High myopia	2	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7			6
HP:0000539	HP:0011003	High myopia	2	CPSF1 CL E G H	29894	2324	OMIM:618827	MYOPIA 27, AUTOSOMAL DOMINANT; MYP27
HP:0000539	HP:0008499	High hypermetropia	2	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8	.		156
HP:0000539	HP:0008499	High hypermetropia	2	CRB1 CL E G H	23418	2343	ORPHA:35612	Nanophthalmos	HP:0040281 - Very frequent		156
HP:0000539	HP:0008499	High hypermetropia	2	CRB1 CL E G H	23418	2343	OMIM:600105	Retinitis pigmentosa 12			156
HP:0000539	HP:0011003	High myopia	2	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies	.		4
HP:0000539	HP:0008499	High hypermetropia	2	CSTA CL E G H	1475	2481	ORPHA:263534	Acral peeling skin syndrome	HP:0040282 - Frequent		4
HP:0000539	HP:0011003	High myopia	2	CYP1B1 CL E G H	1545	2597	ORPHA:98977	Juvenile glaucoma	HP:0040283 - Occasional		101
HP:0000539	HP:0011003	High myopia	2	CYP4V2 CL E G H	285440	23198	OMIM:210370	Bietti crystalline corneoretinal dystrophy	HP:0040283 - Occasional		126
HP:0000539	HP:0011003	High myopia	2	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy	HP:0040283 - Occasional		108
HP:0000539	HP:0008499	High hypermetropia	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000539	HP:0011003	High myopia	2	DOHH CL E G H	83475	28662	OMIM:620066
HP:0000539	HP:0011003	High myopia	2	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0000539	HP:0011003	High myopia	2	EFEMP1 CL E G H	2202	3218	ORPHA:98977	Juvenile glaucoma	HP:0040283 - Occasional		54
HP:0000539	HP:0011003	High myopia	2	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2	.		1
HP:0000539	HP:0008499	High hypermetropia	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000539	HP:0008499	High hypermetropia	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		172
HP:0000539	HP:0011003	High myopia	2	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation	HP:0040283 - Occasional		62
HP:0000539	HP:0011003	High myopia	2	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2	.		12
HP:0000539	HP:0008499	High hypermetropia	2	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1	HP:0040282 - Frequent		33
HP:0000539	HP:0011003	High myopia	2	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0000539	HP:0011003	High myopia	2	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040281 - Very frequent		1361
HP:0000539	HP:0011003	High myopia	2	FBN1 CL E G H	2200	3603	ORPHA:3449	Weill-Marchesani syndrome	HP:0040281 - Very frequent		1361
HP:0000539	HP:0011003	High myopia	2	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0000539	HP:0008499	High hypermetropia	2	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia	HP:0040283 - Occasional		18
HP:0000539	HP:0011003	High myopia	2	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans	HP:0040283 - Occasional		145
HP:0000539	HP:0008499	High hypermetropia	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000539	HP:0031624	Moderate myopia	2	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia			493
HP:0000539	HP:0008499	High hypermetropia	2	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		10
HP:0000539	HP:0000484	Hyperopic astigmatism	2	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	HP:0040282 - Frequent		33
HP:0000539	HP:0008499	High hypermetropia	2	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent		68
HP:0000539	HP:0011003	High myopia	2	GLRA2 CL E G H	2742	4327	OMIM:301076	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0000539	HP:0025573	Mild myopia	2	GNB3 CL E G H	2784	4400	OMIM:617024	Night blindness, congenital stationary, type 1H	.		5
HP:0000539	HP:0000484	Hyperopic astigmatism	2	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta	.		240
HP:0000539	HP:0000484	Hyperopic astigmatism	2	GPR143 CL E G H	4935	20145	OMIM:300814	Nystagmus 6, congenital, X-linked	.		64
HP:0000539	HP:0008499	High hypermetropia	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0000539	HP:0008499	High hypermetropia	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0000539	HP:0008499	High hypermetropia	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0000539	HP:0011003	High myopia	2	GZF1 CL E G H	64412	15808	OMIM:617662	Joint laxity, short stature, and myopia	.
HP:0000539	HP:0031624	Moderate myopia	2	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000539	HP:0031624	Moderate myopia	2	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000539	HP:0025573	Mild myopia	2	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000539	HP:0008499	High hypermetropia	2	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3	HP:0040282 - Frequent
HP:0000539	HP:0011003	High myopia	2	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7			11
HP:0000539	HP:0011003	High myopia	2	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040283 - Occasional		16
HP:0000539	HP:0011003	High myopia	2	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome	.
HP:0000539	HP:0008499	High hypermetropia	2	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		345
HP:0000539	HP:0008499	High hypermetropia	2	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia	HP:0040283 - Occasional		93
HP:0000539	HP:0008499	High hypermetropia	2	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia	HP:0040283 - Occasional		11
HP:0000539	HP:0008499	High hypermetropia	2	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia	HP:0040283 - Occasional		4
HP:0000539	HP:0011003	High myopia	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000539	HP:0011003	High myopia	2	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	.		4
HP:0000539	HP:0011003	High myopia	2	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0000539	HP:0008499	High hypermetropia	2	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		1
HP:0000539	HP:0500041	Myopic astigmatism	2	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	.		46
HP:0000539	HP:0011003	High myopia	2	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome			92
HP:0000539	HP:0008499	High hypermetropia	2	LCA5 CL E G H	167691	31923	OMIM:604537	Leber congenital amaurosis 5	.		70
HP:0000539	HP:0008499	High hypermetropia	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000539	HP:0011003	High myopia	2	LOXL3 CL E G H	84695	13869	OMIM:619781	MYOPIA 28, AUTOSOMAL RECESSIVE; MYP28			4
HP:0000539	HP:0011003	High myopia	2	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0000539	HP:0011003	High myopia	2	LRPAP1 CL E G H	4043	6701	OMIM:615431	Myopia 23, autosomal recessive			4
HP:0000539	HP:0011003	High myopia	2	LTBP2 CL E G H	4053	6715	ORPHA:3449	Weill-Marchesani syndrome	HP:0040281 - Very frequent		123
HP:0000539	HP:0008499	High hypermetropia	2	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000539	HP:0011003	High myopia	2	MAF CL E G H	4094	6776	OMIM:610202	Cataract 21, multiple types			21
HP:0000539	HP:0500041	Myopic astigmatism	2	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0000539	HP:0008499	High hypermetropia	2	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional		43
HP:0000539	HP:0008499	High hypermetropia	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0000539	HP:0008499	High hypermetropia	2	MFRP CL E G H	83552	18121	ORPHA:35612	Nanophthalmos	HP:0040281 - Very frequent		26
HP:0000539	HP:0008499	High hypermetropia	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0000539	HP:0008499	High hypermetropia	2	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000539	HP:0008499	High hypermetropia	2	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1	HP:0040282 - Frequent		516
HP:0000539	HP:0011003	High myopia	2	MYOC CL E G H	4653	7610	ORPHA:98977	Juvenile glaucoma	HP:0040283 - Occasional		47
HP:0000539	HP:0008499	High hypermetropia	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		13
HP:0000539	HP:0011003	High myopia	2	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked			39
HP:0000539	HP:0011003	High myopia	2	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7			3
HP:0000539	HP:0011003	High myopia	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0000539	HP:0011003	High myopia	2	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0000539	HP:0008499	High hypermetropia	2	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0000539	HP:0011003	High myopia	2	NYX CL E G H	60506	8082	OMIM:310500	Night blindness, congenital stationary, type 1A	.		42
HP:0000539	HP:0025573	Mild myopia	2	OFD1 CL E G H	8481	2567	OMIM:300424	Retinitis pigmentosa 23			201
HP:0000539	HP:0008499	High hypermetropia	2	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0000539	HP:0008499	High hypermetropia	2	OTX2 CL E G H	5015	8522	ORPHA:35612	Nanophthalmos	HP:0040281 - Very frequent		41
HP:0000539	HP:0011003	High myopia	2	P3H2 CL E G H	55214	19317	OMIM:614292	Myopia, high, with cataract and vitreoretinal degeneration	.		5
HP:0000539	HP:0011003	High myopia	2	P4HA2 CL E G H	8974	8547	OMIM:617238	Myopia 25, autosomal dominant	.		3
HP:0000539	HP:0011003	High myopia	2	PAK2 CL E G H	5062	8591	OMIM:618458
HP:0000539	HP:0011003	High myopia	2	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome			39
HP:0000539	HP:0008499	High hypermetropia	2	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1	HP:0040282 - Frequent		352
HP:0000539	HP:0011003	High myopia	2	PDE6H CL E G H	5149	8790	OMIM:610024	Retinal cone dystrophy 3A			14
HP:0000539	HP:0008499	High hypermetropia	2	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000539	HP:0025612	Corneal astigmatism	2	PITX2 CL E G H	5308	9005	OMIM:180550	Ring dermoid of cornea			51
HP:0000539	HP:0011003	High myopia	2	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20			3
HP:0000539	HP:0025573	Mild myopia	2	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0000539	HP:0011003	High myopia	2	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism			67
HP:0000539	HP:0011003	High myopia	2	POMGNT1 CL E G H	55624	19139	OMIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3			180
HP:0000539	HP:0008499	High hypermetropia	2	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		148
HP:0000539	HP:0011003	High myopia	2	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome	HP:0040281 - Very frequent		58
HP:0000539	HP:0008499	High hypermetropia	2	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000539	HP:0008499	High hypermetropia	2	PRSS56 CL E G H	646960	39433	OMIM:613517	Microphthalmia, isolated 6	.		11
HP:0000539	HP:0008499	High hypermetropia	2	PRSS56 CL E G H	646960	39433	ORPHA:35612	Nanophthalmos	HP:0040281 - Very frequent		11
HP:0000539	HP:0011003	High myopia	2	RAB28 CL E G H	9364	9768	OMIM:615374	Cone-Rod dystrophy 18	.		6
HP:0000539	HP:0008499	High hypermetropia	2	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome	HP:0040282 - Frequent		150
HP:0000539	HP:0008499	High hypermetropia	2	RAX CL E G H	30062	18662	ORPHA:35612	Nanophthalmos	HP:0040281 - Very frequent		43
HP:0000539	HP:0008499	High hypermetropia	2	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		16
HP:0000539	HP:0008499	High hypermetropia	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000539	HP:0011003	High myopia	2	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome			43
HP:0000539	HP:0011003	High myopia	2	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome	HP:0040283 - Occasional		43
HP:0000539	HP:0008499	High hypermetropia	2	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040281 - Very frequent		37
HP:0000539	HP:0000484	Hyperopic astigmatism	2	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1			90
HP:0000539	HP:0011003	High myopia	2	RP2 CL E G H	6102	10274	OMIM:312600	Retinitis pigmentosa 2, X-linked			45
HP:0000539	HP:0011003	High myopia	2	RPGR CL E G H	6103	10295	OMIM:300029	Retinitis pigmentosa 3			200
HP:0000539	HP:0008499	High hypermetropia	2	RPGRIP1 CL E G H	57096	13436	OMIM:613826	Leber congenital amaurosis 6	.		109
HP:0000539	HP:0011003	High myopia	2	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0000539	HP:0011003	High myopia	2	SCO2 CL E G H	9997	10604	OMIM:608908	Myopia 6			40
HP:0000539	HP:0008499	High hypermetropia	2	SIX6 CL E G H	4990	10892	ORPHA:35612	Nanophthalmos	HP:0040281 - Very frequent		20
HP:0000539	HP:0008499	High hypermetropia	2	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		150
HP:0000539	HP:0011003	High myopia	2	SLC39A5 CL E G H	283375	20502	OMIM:615946	Myopia 24, autosomal dominant			2
HP:0000539	HP:0031792	Irregular astigmatism	2	SLC4A11 CL E G H	83959	16438	ORPHA:293603	Congenital hereditary endothelial dystrophy type II	HP:0040283 - Occasional		66
HP:0000539	HP:0008499	High hypermetropia	2	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0000539	HP:0011003	High myopia	2	SLITRK6 CL E G H	84189	23503	OMIM:221200	Deafness and myopia	.		4
HP:0000539	HP:0008499	High hypermetropia	2	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040282 - Frequent		504
HP:0000539	HP:0011003	High myopia	2	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type	.		19
HP:0000539	HP:0011003	High myopia	2	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040284 - Very rare		19
HP:0000539	HP:0008499	High hypermetropia	2	SOX2 CL E G H	6657	11195	ORPHA:35612	Nanophthalmos	HP:0040281 - Very frequent		33
HP:0000539	HP:0008499	High hypermetropia	2	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		4
HP:0000539	HP:0008499	High hypermetropia	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000539	HP:0031729	Moderate hypermetropia	2	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0000539	HP:0008499	High hypermetropia	2	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000539	HP:0011003	High myopia	2	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome	.		271
HP:0000539	HP:0000484	Hyperopic astigmatism	2	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome	HP:0040282 - Frequent
HP:0000539	HP:0008499	High hypermetropia	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000539	HP:0500041	Myopic astigmatism	2	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000539	HP:0011003	High myopia	2	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I	HP:0040283 - Occasional		58
HP:0000539	HP:0008499	High hypermetropia	2	TGM5 CL E G H	9333	11781	ORPHA:263534	Acral peeling skin syndrome	HP:0040282 - Frequent		44
HP:0000539	HP:0008499	High hypermetropia	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000539	HP:0008499	High hypermetropia	2	TMEM98 CL E G H	26022	24529	ORPHA:35612	Nanophthalmos	HP:0040281 - Very frequent		3
HP:0000539	HP:0008499	High hypermetropia	2	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3	HP:0040282 - Frequent
HP:0000539	HP:0011003	High myopia	2	TTC8 CL E G H	123016	20087	OMIM:613464	Retinitis pigmentosa 51	.		41
HP:0000539	HP:0011003	High myopia	2	TTLL5 CL E G H	23093	19963	OMIM:615860	Cone-Rod dystrophy 19			9
HP:0000539	HP:0008499	High hypermetropia	2	TUBB4B CL E G H	10383	20771	OMIM:617879	Leber congenital amaurosis with early-onset deafness	.
HP:0000539	HP:0008499	High hypermetropia	2	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000539	HP:0008499	High hypermetropia	2	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1	HP:0040282 - Frequent		173
HP:0000539	HP:0008499	High hypermetropia	2	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1	HP:0040282 - Frequent		78
HP:0000539	HP:0500041	Myopic astigmatism	2	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0000539	HP:0008499	High hypermetropia	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000539	HP:0011003	High myopia	2	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0000539	HP:0008499	High hypermetropia	2	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia	HP:0040283 - Occasional		95
HP:0000539	HP:0008499	High hypermetropia	2	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia	HP:0040283 - Occasional		136
HP:0000539	HP:0008499	High hypermetropia	2	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000539	HP:0011003	High myopia	2	ZNF408 CL E G H	79797	20041	OMIM:616469	Retinitis pigmentosa 72			14
HP:0000539	HP:0011003	High myopia	2	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome	HP:0040281 - Very frequent		397
HP:0000539	HP:0011003	High myopia	2	ZNF644 CL E G H	84146	29222	OMIM:614167	Myopia 21, autosomal dominant	.		5
HP:0000539	HP:0500042	Latent hypermetropia	3	CL E G H