Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000545 | HP:0000545 | Myopia | 0 | ABCC6 CL E G H | 368 | 57 | ORPHA:758 | Pseudoxanthoma elasticum | HP:0040282 - Frequent | | | 415 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ABCC6 CL E G H | 368 | 57 | OMIM:177850 | Pseudoxanthoma elasticum, forme fruste | . | | | 415 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ACOX1 CL E G H | 51 | 119 | ORPHA:2971 | Peroxisomal acyl-CoA oxidase deficiency | HP:0040282 - Frequent | | | 120 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ACSL4 CL E G H | 2182 | 3571 | ORPHA:86818 | Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ADAMTS10 CL E G H | 81794 | 13201 | ORPHA:3449 | Weill-Marchesani syndrome | | | | 63 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ADAMTS10 CL E G H | 81794 | 13201 | OMIM:277600 | Weill-Marchesani syndrome 1 | | | | 63 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ADAMTS17 CL E G H | 170691 | 17109 | OMIM:613195 | Weill-Marchesani syndrome 4 | . | | | 214 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ADAMTS2 CL E G H | 9509 | 218 | OMIM:225410 | Ehlers-Danlos syndrome, type VII, autosomal recessive | . | | | 165 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ADAMTSL1 CL E G H | 92949 | 14632 | ORPHA:521445 | Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome | HP:0040282 - Frequent | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ADAMTSL4 CL E G H | 54507 | 19706 | OMIM:225200 | Ectopia lentis et pupillae | | | | 84 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ADGRV1 CL E G H | 84059 | 17416 | ORPHA:231178 | Usher syndrome type 2 | HP:0040282 - Frequent | | | 530 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | AEBP1 CL E G H | 165 | 303 | ORPHA:536532 | Classical-like Ehlers-Danlos syndrome type 2 | HP:0040283 - Occasional | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | 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:0000545 | HP:0000545 | Myopia | 0 | AGBL5 CL E G H | 60509 | 26147 | OMIM:617023 | Retinitis pigmentosa 75 | . | | | 2 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | AGK CL E G H | 55750 | 21869 | ORPHA:1369 | Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome | HP:0040282 - Frequent | | | 82 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | AGK CL E G H | 55750 | 21869 | OMIM:212350 | Sengers syndrome | . | | | 82 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | AHDC1 CL E G H | 27245 | 25230 | ORPHA:412069 | AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome | | | | 36 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 54 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | AKT1 CL E G H | 207 | 391 | OMIM:615109 | Cowden syndrome 6 | . | | | 54 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 54 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:219150 | Cutis laxa, autosomal recessive, type IIIA | . | | | 89 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ALDH3A2 CL E G H | 224 | 403 | ORPHA:816 | Sjögren-Larsson syndrome | HP:0040282 - Frequent | | | 87 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | AMMECR1 CL E G H | 9949 | 467 | ORPHA:86818 | Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ANKRD11 CL E G H | 29123 | 21316 | ORPHA:261250 | 16q24.3 microdeletion syndrome | HP:0040283 - Occasional | | | 102 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ANTXR1 CL E G H | 84168 | 21014 | ORPHA:2067 | GAPO syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | AP1B1 CL E G H | 162 | 554 | OMIM:242150 | Ichthyosiform erythroderma, corneal involvement, and deafness | . | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | AP3D1 CL E G H | 8943 | 568 | ORPHA:54 | X-linked recessive ocular albinism | HP:0040283 - Occasional | | | 1 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 1 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ARCN1 CL E G H | 372 | 649 | OMIM:617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | . | | | 3 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ARID1A CL E G H | 8289 | 11110 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 88 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ARID1B CL E G H | 57492 | 18040 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 219 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ARID2 CL E G H | 196528 | 18037 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 25 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ARL6 CL E G H | 84100 | 13210 | OMIM:209900 | Bardet-Biedl syndrome 1 | . | | | 29 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ARR3 CL E G H | 407 | 710 | OMIM:301010 | MYOPIA 26, X-LINKED, FEMALE-LIMITED; MYP26 | | | | 1 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ASPH CL E G H | 444 | 757 | OMIM:601552 | Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs | | | | 4 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:97297 | Bohring-Opitz syndrome | | | | 145 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ASXL1 CL E G H | 171023 | 18318 | OMIM:605039 | Bohring-Opitz syndrome | . | | | 145 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ATAD3A CL E G H | 55210 | 25567 | OMIM:617183 | Harel-Yoon syndrome | . | | | 5 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ATAD3A CL E G H | 55210 | 25567 | ORPHA:496790 | Ocular anomalies-axonal neuropathy-developmental delay syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ATF6 CL E G H | 22926 | 791 | ORPHA:49382 | Achromatopsia | HP:0040282 - Frequent | | | 10 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | | | | 140 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | OMIM:219200 | Cutis laxa, autosomal recessive, type IIA | . | | | 140 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:2834 | Wrinkly skin syndrome | | | | 140 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ATP6V1A CL E G H | 523 | 851 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | | | | 3 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ATP6V1E1 CL E G H | 529 | 857 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | | | | 2 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ATRX CL E G H | 546 | 886 | ORPHA:847 | Alpha-thalassemia-X-linked intellectual disability syndrome | HP:0040283 - Occasional | | | 169 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | B3GALNT2 CL E G H | 148789 | 28596 | ORPHA:588 | Muscle-eye-brain disease | HP:0040281 - Very frequent | | | 43 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | B3GALNT2 CL E G H | 148789 | 28596 | OMIM:615181 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 | . | | | 43 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 38 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:271640 | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | | | | 38 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | . | | | 36 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | B4GALT1 CL E G H | 2683 | 924 | ORPHA:79332 | B4GALT1-CDG | | | | 85 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | BAP1 CL E G H | 8314 | 950 | OMIM:619762 | KURY-ISIDOR SYNDROME; KURIS | | | | 184 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | BBS1 CL E G H | 582 | 966 | OMIM:209900 | Bardet-Biedl syndrome 1 | . | | | 114 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | BCL11B CL E G H | 64919 | 13222 | OMIM:618092 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES | . | | | 3 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | BFSP2 CL E G H | 8419 | 1041 | OMIM:611597 | Cataract, autosomal dominant, multiple types 1 | . | | | 27 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | BICRA CL E G H | 29998 | 4332 | OMIM:619325 | COFFIN-SIRIS SYNDROME 12; CSS12 | | | | 2 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | BLOC1S3 CL E G H | 388552 | 20914 | OMIM:614077 | Hermansky-Pudlak syndrome 8 | . | | | 42 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | BMP4 CL E G H | 652 | 1071 | ORPHA:139471 | Microphthalmia with brain and digit anomalies | HP:0040283 - Occasional | | | 38 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | BMP4 CL E G H | 652 | 1071 | OMIM:607932 | Microphthalmia, syndromic 6 | | | | 38 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | BPTF CL E G H | 2186 | 3581 | ORPHA:529962 | 17q24.2 microdeletion syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 276 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | . | | | 276 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | BRAF CL E G H | 673 | 1097 | OMIM:163950 | Noonan syndrome 1 | . | | | 276 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | C12ORF57 CL E G H | 113246 | 29521 | OMIM:218340 | Temtamy syndrome | . | | | 13 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | CABP4 CL E G H | 57010 | 1386 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 94 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | CACNA1F CL E G H | 778 | 1393 | OMIM:300600 | Aland island eye disease | . | | | 58 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | CACNA1F CL E G H | 778 | 1393 | ORPHA:178333 | Åland Islands eye disease | HP:0040281 - Very frequent | | | 58 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | CACNA1F CL E G H | 778 | 1393 | OMIM:300476 | Cone-Rod dystrophy, X-linked, 3 | | | | 58 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | CACNA1F CL E G H | 778 | 1393 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 58 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | CACNA2D4 CL E G H | 93589 | 20202 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 129 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | CAMK2G CL E G H | 818 | 1463 | OMIM:618522 | Intellectual developmental disorder 59 | . | | | 1 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | CAMTA1 CL E G H | 23261 | 18806 | OMIM:614756 | Cerebellar ataxia, nonprogressive, with mental retardation | | | | 34 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | . | HP:0003584 - Late onset | | 85 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | CASK CL E G H | 8573 | 1497 | ORPHA:163937 | X-linked intellectual disability, Najm type | HP:0040282 - Frequent | | | 118 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | CBS CL E G H | 875 | 1550 | ORPHA:394 | Classic homocystinuria | HP:0040282 - Frequent | | | 242 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | CBS CL E G H | 875 | 1550 | OMIM:236200 | Homocystinuria due to cystathionine beta-synthase deficiency | | | | 242 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | CCDC28B CL E G H | 79140 | 28163 | OMIM:209900 | Bardet-Biedl syndrome 1 | . | | | 4 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | CCNQ CL E G H | 92002 | 28434 | ORPHA:140952 | Syndactyly-telecanthus-anogenital and renal malformations syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | CDC45 CL E G H | 8318 | 1739 | OMIM:617063 | Meier-Gorlin syndrome 7 | . | | | 9 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | CDK8 CL E G H | 1024 | 1779 | OMIM:618748 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA | | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | CFAP418 CL E G H | 157657 | 27232 | OMIM:617406 | Bardet-Biedl syndrome 21 | . | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | CHM CL E G H | 1121 | 1940 | ORPHA:180 | Choroideremia | HP:0040281 - Very frequent | | | 47 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | CHMP1A CL E G H | 5119 | 8740 | OMIM:614961 | Pontocerebellar hypoplasia, type 8 | . | | | 19 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | CHST14 CL E G H | 113189 | 24464 | OMIM:601776 | Ehlers-Danlos syndrome, musculocontractural type 1 | . | | | 27 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | CHST14 CL E G H | 113189 | 24464 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 27 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | CLDN16 CL E G H | 10686 | 2037 | OMIM:248250 | Hypomagnesemia 3, renal | . | | | 58 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | 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:0000545 | HP:0000545 | Myopia | 0 | CLDN19 CL E G H | 149461 | 2040 | OMIM:248190 | Hypomagnesemia 5, renal, with or without ocular involvement | . | | | 42 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | CNGA3 CL E G H | 1261 | 2150 | ORPHA:49382 | Achromatopsia | HP:0040282 - Frequent | | | 82 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | CNGB3 CL E G H | 54714 | 2153 | ORPHA:49382 | Achromatopsia | HP:0040282 - Frequent | | | 194 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | CNGB3 CL E G H | 54714 | 2153 | OMIM:262300 | Achromatopsia 3 | | | | 194 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:440354 | Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome | | | | 215 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:250984 | Autosomal recessive Stickler syndrome | HP:0040282 - Frequent | | | 215 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:560 | Marshall syndrome | HP:0040281 - Very frequent | | | 215 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:154780 | Marshall syndrome | . | | | 215 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:90654 | Stickler syndrome type 2 | HP:0040281 - Very frequent | | | 215 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:604841 | Stickler syndrome, type II | | | | 215 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | COL11A2 CL E G H | 1302 | 2187 | ORPHA:1427 | Otospondylomegaepiphyseal dysplasia | | | | 222 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:536516 | Myopathic Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | COL18A1 CL E G H | 80781 | 2195 | ORPHA:1571 | Knobloch syndrome | HP:0040281 - Very frequent | | | 177 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | | | | 177 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | COL1A2 CL E G H | 1278 | 2198 | ORPHA:230851 | Cardiac-valvular Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 243 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:91411 | Congenital ptosis | | | | 3 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93296 | Achondrogenesis type 2 | HP:0040283 - Occasional | | | 284 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:132450 | Epiphyseal dysplasia, multiple, with myopia and conductive deafness | . | | | 284 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:156550 | Kniest dysplasia | . | | | 284 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:485 | Kniest dysplasia | | | | 284 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:166011 | Multiple epiphyseal dysplasia, Beighton type | HP:0040282 - Frequent | | | 284 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93346 | Spondyloepimetaphyseal dysplasia congenita, Strudwick type | HP:0040282 - Frequent | | | 284 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:184250 | Spondyloepimetaphyseal dysplasia, Strudwick type | . | | | 284 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:94068 | Spondyloepiphyseal dysplasia congenita | HP:0040283 - Occasional | | | 284 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:183900 | Spondyloepiphyseal dysplasia congenita | | | | 284 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | HP:0040283 - Occasional | | | 284 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93316 | Spondylometaphyseal dysplasia, Schmidt type | HP:0040283 - Occasional | | | 284 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:1856 | Spondyloperipheral dysplasia-short ulna syndrome | HP:0040282 - Frequent | | | 284 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:90653 | Stickler syndrome type 1 | HP:0040281 - Very frequent | | | 284 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:108300 | Stickler syndrome, type I | . | | | 284 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:609508 | STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR | | | | 284 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:175780 | Brain small vessel disease 1 with or without ocular anomalies | . | | | 193 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | COL4A3 CL E G H | 1285 | 2204 | OMIM:104200 | Alport syndrome, autosomal dominant | . | | | 161 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | COL4A3 CL E G H | 1285 | 2204 | OMIM:203780 | Alport syndrome, autosomal recessive | . | | | 161 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | COL4A4 CL E G H | 1286 | 2206 | OMIM:203780 | Alport syndrome, autosomal recessive | . | | | 174 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | COL4A5 CL E G H | 1287 | 2207 | OMIM:301050 | Alport syndrome, X-linked | . | | | 678 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | COL4A5 CL E G H | 1287 | 2207 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | HP:0040283 - Occasional | | | 678 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | COL4A6 CL E G H | 1288 | 2208 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | HP:0040283 - Occasional | | | 18 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | COL5A1 CL E G H | 1289 | 2209 | OMIM:130000 | Ehlers-danlos syndrome, type I | . | | | 660 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | COL9A1 CL E G H | 1297 | 2217 | ORPHA:250984 | Autosomal recessive Stickler syndrome | HP:0040282 - Frequent | | | 110 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | COL9A1 CL E G H | 1297 | 2217 | OMIM:614134 | STICKLER SYNDROME, TYPE IV; STL4 | | | | 110 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | COL9A2 CL E G H | 1298 | 2218 | ORPHA:250984 | Autosomal recessive Stickler syndrome | HP:0040282 - Frequent | | | 110 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | COL9A2 CL E G H | 1298 | 2218 | OMIM:614284 | Stickler syndrome, type V | | | | 110 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | COL9A3 CL E G H | 1299 | 2219 | OMIM:620022 | | | | | 137 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | COL9A3 CL E G H | 1299 | 2219 | ORPHA:250984 | Autosomal recessive Stickler syndrome | HP:0040282 - Frequent | | | 137 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | COX7B CL E G H | 1349 | 2291 | OMIM:300887 | Linear skin defects with multiple congenital anomalies 2 | HP:0040283 - Occasional | | | 6 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | COX7B CL E G H | 1349 | 2291 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 6 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | CPSF1 CL E G H | 29894 | 2324 | OMIM:618827 | MYOPIA 27, AUTOSOMAL DOMINANT; MYP27 | | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | CRIPT CL E G H | 9419 | 14312 | OMIM:615789 | Short stature with microcephaly and distinctive facies | | | | 4 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | CRYAA CL E G H | 1409 | 2388 | ORPHA:1377 | Cataract-microcornea syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | CRYBA2 CL E G H | 1412 | 2395 | OMIM:115900 | Cataract 42 | HP:0040283 - Occasional | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | CRYBA4 CL E G H | 1413 | 2396 | ORPHA:1377 | Cataract-microcornea syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | CRYBB1 CL E G H | 1414 | 2397 | ORPHA:1377 | Cataract-microcornea syndrome | HP:0040282 - Frequent | | | 18 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | CRYBB2 CL E G H | 1415 | 2398 | ORPHA:1377 | Cataract-microcornea syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | CRYGC CL E G H | 1420 | 2410 | ORPHA:1377 | Cataract-microcornea syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | CRYGD CL E G H | 1421 | 2411 | ORPHA:1377 | Cataract-microcornea syndrome | HP:0040282 - Frequent | | | 29 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 57 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:404473 | Severe intellectual disability-progressive spastic diplegia syndrome | HP:0040283 - Occasional | | | 88 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | CYP1B1 CL E G H | 1545 | 2597 | ORPHA:98977 | Juvenile glaucoma | | | | 101 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | CYP4V2 CL E G H | 285440 | 23198 | OMIM:210370 | Bietti crystalline corneoretinal dystrophy | | | | 126 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | DAG1 CL E G H | 1605 | 2666 | ORPHA:370997 | Muscle-eye-brain disease with bilateral multicystic leucodystrophy | | | | 108 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | DAG1 CL E G H | 1605 | 2666 | OMIM:616538 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 | . | | | 108 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:617052 | Bone marrow failure syndrome 3 | . | | | 5 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | DOHH CL E G H | 83475 | 28662 | OMIM:620066 | | | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | DPF2 CL E G H | 5977 | 9964 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | DPH5 CL E G H | 51611 | 24270 | OMIM:620070 | | | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | DPYD CL E G H | 1806 | 3012 | ORPHA:293948 | 1p21.3 microdeletion syndrome | HP:0040281 - Very frequent | | | 144 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | DPYD CL E G H | 1806 | 3012 | ORPHA:1675 | Dihydropyrimidine dehydrogenase deficiency | HP:0040283 - Occasional | | | 144 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | DSE CL E G H | 29940 | 21144 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | 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:0000545 | HP:0000545 | Myopia | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:464311 | Intellectual disability syndrome due to a DYRK1A point mutation | HP:0040283 - Occasional | | | 134 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | EED CL E G H | 8726 | 3188 | OMIM:617561 | Cohen-Gibson syndrome | | | | 4 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:98977 | Juvenile glaucoma | | | | 54 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | EFL1 CL E G H | 79631 | 25789 | OMIM:617941 | Shwachman-Diamond syndrome 2 | | | | 1 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | EIF2S3 CL E G H | 1968 | 3267 | OMIM:300148 | Mehmo syndrome | . | | | 8 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 172 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ELOVL4 CL E G H | 6785 | 14415 | OMIM:614457 | Ichthyosis, spastic quadriplegia, and mental retardation | | | | 62 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ELP1 CL E G H | 8518 | 5959 | ORPHA:1764 | Familial dysautonomia | HP:0040283 - Occasional | | | 133 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | EMC1 CL E G H | 23065 | 28957 | OMIM:616875 | Cerebellar atrophy, visual impairment, and psychomotor retardation | | | | 5 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | 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:0000545 | HP:0000545 | Myopia | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:758 | Pseudoxanthoma elasticum | HP:0040282 - Frequent | | | 151 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | EPHA2 CL E G H | 1969 | 3386 | OMIM:116600 | Cataract, posterior polar, 1 ctpa cataract, congenital total, included | . | | | 87 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ERBB3 CL E G H | 2065 | 3431 | OMIM:607598 | Lethal congenital contracture syndrome 2 | | | | 12 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 106 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 54 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | EXOSC2 CL E G H | 23404 | 17097 | OMIM:617763 | Short stature, hearing loss, retinitis pigmentosa, and distinctive facies | . | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | EXOSC5 CL E G H | 56915 | 24662 | OMIM:619576 | CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC | | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | FANCI CL E G H | 55215 | 25568 | OMIM:609053 | Fanconi anemia, complementation group I | . | | | 157 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:616914 | Marfan lipodystrophy syndrome | | | | 1361 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:154700 | Marfan syndrome | | | | 1361 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:284979 | Neonatal Marfan syndrome | | | | 1361 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:2462 | Shprintzen-Goldberg syndrome | HP:0040283 - Occasional | | | 1361 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:184900 | STIFF SKIN SYNDROME; SSKS | | | | 1361 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:3449 | Weill-Marchesani syndrome | | | | 1361 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:608328 | Weill-Marchesani syndrome 2, dominant | | | | 1361 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | FBN2 CL E G H | 2201 | 3604 | OMIM:121050 | Contractural arachnodactyly, congenital | . | | | 655 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | FBXW11 CL E G H | 23291 | 13607 | OMIM:618914 | NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED | | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101200 | Apert syndrome | | | | 175 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:616482 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | | | | 145 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | FKBP14 CL E G H | 55033 | 18625 | OMIM:614557 | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | HP:0040281 - Very frequent | | | 13 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | FKBP14 CL E G H | 55033 | 18625 | ORPHA:300179 | Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency | HP:0040282 - Frequent | | | 13 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 157 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 157 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:588 | Muscle-eye-brain disease | HP:0040281 - Very frequent | | | 157 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 157 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:613153 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 | . | | | 157 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:272 | Congenital muscular dystrophy, Fukuyama type | HP:0040282 - Frequent | | | 184 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:588 | Muscle-eye-brain disease | HP:0040281 - Very frequent | | | 184 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 184 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:253800 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 | . | | | 184 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:555877 | FLNA-related X-linked myxomatous valvular dysplasia | | | | 493 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | FN1 CL E G H | 2335 | 3778 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | HP:0040283 - Occasional | | | 9 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | HP:0040282 - Frequent | | | 68 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:257850 | Oculodentodigital dysplasia, autosomal recessive | . | | | 68 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | GJA8 CL E G H | 2703 | 4281 | ORPHA:1377 | Cataract-microcornea syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | GJC2 CL E G H | 57165 | 17494 | OMIM:608804 | Leukodystrophy, hypomyelinating, 2 | . | | | 37 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | GLE1 CL E G H | 2733 | 4315 | OMIM:611890 | Congenital arthrogryposis with anterior horn cell disease | . | | | 45 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | GLRA2 CL E G H | 2742 | 4327 | OMIM:301076 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP | | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | GLRB CL E G H | 2743 | 4329 | OMIM:614619 | Hyperekplexia 2 | . | | | 46 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 34 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 34 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:588 | Muscle-eye-brain disease | HP:0040281 - Very frequent | | | 34 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | GNAT1 CL E G H | 2779 | 4393 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 39 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | GNAT2 CL E G H | 2780 | 4394 | ORPHA:49382 | Achromatopsia | HP:0040282 - Frequent | | | 19 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | GNB3 CL E G H | 2784 | 4400 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 5 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | GNB3 CL E G H | 2784 | 4400 | OMIM:617024 | Night blindness, congenital stationary, type 1H | | | | 5 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | GNPTG CL E G H | 84572 | 23026 | OMIM:252605 | Mucolipidosis III gamma | . | | | 57 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | GPAA1 CL E G H | 8733 | 4446 | OMIM:617810 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 | | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | GPAA1 CL E G H | 8733 | 4446 | ORPHA:529665 | Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome | HP:0040282 - Frequent | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | GPR143 CL E G H | 4935 | 20145 | ORPHA:54 | X-linked recessive ocular albinism | HP:0040283 - Occasional | | | 64 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | GPR179 CL E G H | 440435 | 31371 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 124 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | GPR179 CL E G H | 440435 | 31371 | OMIM:614565 | Night blindness, congenital stationary, type 1E | . | | | 124 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | GRK1 CL E G H | 6011 | 10013 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 4 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | GRK1 CL E G H | 6011 | 10013 | ORPHA:75382 | Oguchi disease | HP:0040283 - Occasional | | | 4 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | GRM6 CL E G H | 2916 | 4598 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 63 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | GRM6 CL E G H | 2916 | 4598 | OMIM:257270 | Night blindness, congenital stationary, type 1B | . | | | 63 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 2 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | GTPBP2 CL E G H | 54676 | 4670 | OMIM:617988 | Jaberi-Elahi syndrome | . | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | GZF1 CL E G H | 64412 | 15808 | OMIM:617662 | Joint laxity, short stature, and myopia | | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | H4C3 CL E G H | 8364 | 4787 | OMIM:619758 | TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1 | | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | HACE1 CL E G H | 57531 | 21033 | OMIM:616756 | Spastic paraplegia and psychomotor retardation with or without seizures | HP:0040283 - Occasional | | | 10 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | HACE1 CL E G H | 57531 | 21033 | ORPHA:464282 | Spastic paraplegia-severe developmental delay-epilepsy syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | HADHA CL E G H | 3030 | 4801 | ORPHA:5 | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | HP:0040283 - Occasional | | | 99 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | HCCS CL E G H | 3052 | 4837 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 11 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | HDAC8 CL E G H | 55869 | 13315 | OMIM:300882 | Cornelia de Lange syndrome 5 | . | | | 37 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | HERC1 CL E G H | 8925 | 4867 | ORPHA:457359 | Megalencephaly-severe kyphoscoliosis-overgrowth syndrome | | | | 16 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | 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:0000545 | HP:0000545 | Myopia | 0 | 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:0000545 | HP:0000545 | Myopia | 0 | HS6ST2 CL E G H | 90161 | 19133 | OMIM:301025 | Paganini-Miozzo syndrome | | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | HP:0040282 - Frequent | | | 345 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | . | | | 345 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | HTT CL E G H | 3064 | 4851 | OMIM:617435 | Lopes-Maciel-Rodan syndrome | . | | | 12 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | HUWE1 CL E G H | 10075 | 30892 | OMIM:309590 | Mental retardation, x-linked syndromic, Turner type | . | | | 98 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:182250 | Singleton-Merten syndrome 1 | . | | | 28 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | IFT122 CL E G H | 55764 | 13556 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040283 - Occasional | | | 93 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | . | | | 93 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | IFT43 CL E G H | 112752 | 29669 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040283 - Occasional | | | 11 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | IFT52 CL E G H | 51098 | 15901 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040283 - Occasional | | | 4 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | 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:0000545 | HP:0000545 | Myopia | 0 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | 119 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | IRX5 CL E G H | 10265 | 14361 | OMIM:611174 | Hamamy syndrome | | | | 4 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | . | | | 257 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | KAT5 CL E G H | 10524 | 5275 | OMIM:619103 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB | | | | 1 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | KCNE5 CL E G H | 23630 | 6241 | ORPHA:86818 | Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | KCNH1 CL E G H | 3756 | 6250 | OMIM:135500 | Zimmermann-Laband syndrome 1 | . | | | 13 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | KCNV2 CL E G H | 169522 | 19698 | OMIM:610356 | Retinal cone dystrophy 3B | . | | | 73 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | KDM5B CL E G H | 10765 | 18039 | OMIM:618109 | Mental retardation, autosomal recessive 65 | . | | | 2 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | KDM5C CL E G H | 8242 | 11114 | OMIM:300534 | Mental retardation, X-linked, syndromic, Claes-Jensen type | | | | 81 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 24 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | KIF11 CL E G H | 3832 | 6388 | OMIM:152950 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | HP:0040283 - Occasional | | | 46 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | KIF11 CL E G H | 3832 | 6388 | ORPHA:2526 | Microcephaly-lymphedema-chorioretinopathy syndrome | HP:0040282 - Frequent | | | 46 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 196 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:615278 | Cardiofaciocutaneous syndrome 2 | | | | 196 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | LAMA1 CL E G H | 284217 | 6481 | ORPHA:370022 | Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome | HP:0040282 - Frequent | | | 35 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | LAMA1 CL E G H | 284217 | 6481 | OMIM:615960 | Poretti-Boltshauser syndrome | . | | | 35 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | LAMB2 CL E G H | 3913 | 6487 | OMIM:614199 | Nephrotic syndrome, type 5, with or without ocular abnormalities | | | | 92 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | LAMB2 CL E G H | 3913 | 6487 | OMIM:609049 | Pierson syndrome | | | | 92 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 136 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:588 | Muscle-eye-brain disease | HP:0040281 - Very frequent | | | 136 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 136 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | LCA5 CL E G H | 167691 | 31923 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 70 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | LIG4 CL E G H | 3981 | 6601 | ORPHA:235 | Dubowitz syndrome | HP:0040283 - Occasional | | | 88 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | LOC111365204 CL E G H | 111365204 | | OMIM:600790 | Chorioretinal atrophy, progressive bifocal | . | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | LOX CL E G H | 4015 | 6664 | OMIM:617168 | Aortic aneurysm, familial thoracic 10 | HP:0040283 - Occasional | | | 6 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | LOXL3 CL E G H | 84695 | 13869 | ORPHA:250984 | Autosomal recessive Stickler syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | LOXL3 CL E G H | 84695 | 13869 | OMIM:619781 | MYOPIA 28, AUTOSOMAL RECESSIVE; MYP28 | | | | 4 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | LRAT CL E G H | 9227 | 6685 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 62 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | LRIT3 CL E G H | 345193 | 24783 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 54 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | LRIT3 CL E G H | 345193 | 24783 | OMIM:615058 | Night blindness, congenital stationary, type 1F | . | | | 54 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | LRP2 CL E G H | 4036 | 6694 | ORPHA:2143 | Donnai-Barrow syndrome | HP:0040281 - Very frequent | | | 289 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | LRP2 CL E G H | 4036 | 6694 | OMIM:222448 | Donnai-Barrow syndrome | | | | 289 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | LRPAP1 CL E G H | 4043 | 6701 | OMIM:615431 | Myopia 23, autosomal recessive | | | | 4 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | LRRC32 CL E G H | 2615 | 4161 | OMIM:619074 | CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD | | | | | | |
HP:0000545 | HP:0000545 | Myopia | 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:0000545 | HP:0000545 | Myopia | 0 | LTBP2 CL E G H | 4053 | 6715 | ORPHA:3449 | Weill-Marchesani syndrome | | | | 123 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | LTBP2 CL E G H | 4053 | 6715 | OMIM:614819 | Weill-Marchesani syndrome 3 | . | | | 123 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | MAF CL E G H | 4094 | 6776 | OMIM:610202 | Cataract 21, multiple types | | | | 21 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | MAF CL E G H | 4094 | 6776 | ORPHA:1377 | Cataract-microcornea syndrome | HP:0040282 - Frequent | | | 21 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:615547 | Schaaf-Yang syndrome | . | | | 63 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309288 | Alpha-mannosidosis, adult form | HP:0040283 - Occasional | | | 136 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | HP:0040282 - Frequent | | | 136 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:163950 | Noonan syndrome 1 | . | | | 134 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 178 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | MAP2K2 CL E G H | 5605 | 6842 | OMIM:615280 | Cardiofaciocutaneous syndrome 4 | . | | | 178 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | . | | | 252 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | MC1R CL E G H | 4157 | 6929 | OMIM:203200 | Albinism, oculocutaneous, type II | . | | | 124 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | MED12L CL E G H | 116931 | 16050 | OMIM:618872 | NIZON-ISIDOR SYNDROME; NIZIDS | | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | MED13L CL E G H | 23389 | 22962 | ORPHA:369891 | Developmental delay-facial dysmorphism syndrome due to MED13L deficiency | HP:0040283 - Occasional | | | 74 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 9 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | MSX2 CL E G H | 4488 | 7392 | OMIM:604757 | Craniosynostosis 2 | HP:0040283 - Occasional | | | 45 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | MYO1H CL E G H | 283446 | 13879 | OMIM:619482 | CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2 | | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | MYO5A CL E G H | 4644 | 7602 | ORPHA:33445 | Neuroectodermal melanolysosomal disease | HP:0040282 - Frequent | | | 35 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | MYO7A CL E G H | 4647 | 7606 | ORPHA:231178 | Usher syndrome type 2 | HP:0040282 - Frequent | | | 516 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | MYOC CL E G H | 4653 | 7610 | OMIM:137750 | Glaucoma 1, open angle, A | . | | | 47 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | MYOC CL E G H | 4653 | 7610 | ORPHA:98977 | Juvenile glaucoma | | | | 47 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | NBAS CL E G H | 51594 | 15625 | OMIM:614800 | Short stature, optic nerve atrophy, and pelger-huet anomaly | HP:0040283 - Occasional | | | 25 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | NDP CL E G H | 4693 | 7678 | OMIM:305390 | Exudative vitreoretinopathy 2, X-linked | | | | 39 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | NDUFB11 CL E G H | 54539 | 20372 | OMIM:300952 | Linear skin defects with multiple congenital anomalies 3 | . | | | 3 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | NDUFB11 CL E G H | 54539 | 20372 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 3 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | NFIX CL E G H | 4784 | 7788 | ORPHA:447980 | 19p13.3 microduplication syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | | | | 40 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 494 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | . | | | 494 | | |
HP:0000545 | HP:0000545 | Myopia | 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:0000545 | HP:0000545 | Myopia | 0 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | NONO CL E G H | 4841 | 7871 | OMIM:300967 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34 | | | | 10 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | NPR3 CL E G H | 4883 | 7945 | OMIM:619543 | BOUDIN-MORTIER SYNDROME; BOMOS | | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | NR2F1 CL E G H | 7025 | 7975 | ORPHA:401777 | Optic atrophy-intellectual disability syndrome | HP:0040284 - Very rare | | | 37 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:613224 | Noonan syndrome 6 | | | | 102 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:228415 | 5q35 microduplication syndrome | HP:0040282 - Frequent | | | 544 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 544 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | NSUN2 CL E G H | 54888 | 25994 | ORPHA:235 | Dubowitz syndrome | HP:0040283 - Occasional | | | 84 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | NT5C2 CL E G H | 22978 | 8022 | ORPHA:320396 | Autosomal recessive spastic paraplegia type 45 | HP:0040283 - Occasional | | | 15 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | NT5C2 CL E G H | 22978 | 8022 | OMIM:613162 | Spastic paraplegia 45, autosomal recessive | . | | | 15 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | NYX CL E G H | 60506 | 8082 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 42 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | NYX CL E G H | 60506 | 8082 | OMIM:310500 | Night blindness, congenital stationary, type 1A | . | | | 42 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | OAT CL E G H | 4942 | 8091 | ORPHA:414 | Gyrate atrophy of choroid and retina | HP:0040281 - Very frequent | | | 94 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | OAT CL E G H | 4942 | 8091 | OMIM:258870 | Ornithine aminotransferase deficiency | . | | | 94 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | OCA2 CL E G H | 4948 | 8101 | OMIM:203200 | Albinism, oculocutaneous, type II | . | | | 121 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:300424 | Retinitis pigmentosa 23 | | | | 201 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | OPN1LW CL E G H | 5956 | 9936 | OMIM:303700 | Blue cone monochromacy | . | | | 7 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | OPN1MW CL E G H | 2652 | 4206 | OMIM:303700 | Blue cone monochromacy | . | | | 5 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | OPTN CL E G H | 10133 | 17142 | OMIM:137760 | Glaucoma, primary open angle | . | | | 62 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | P3H2 CL E G H | 55214 | 19317 | OMIM:614292 | Myopia, high, with cataract and vitreoretinal degeneration | | | | 5 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | P4HA2 CL E G H | 8974 | 8547 | OMIM:617238 | Myopia 25, autosomal dominant | | | | 3 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | P4HTM CL E G H | 54681 | 28858 | OMIM:618493 | Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | . | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | PACS1 CL E G H | 55690 | 30032 | OMIM:615009 | Schuurs-Hoeijmakers syndrome | . | | | 24 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | PACS2 CL E G H | 23241 | 23794 | OMIM:618067 | Epileptic encephalopathy, early infantile, 66 | . | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | PAK2 CL E G H | 5062 | 8591 | OMIM:618458 | | | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | PAK2 CL E G H | 5062 | 8591 | ORPHA:1571 | Knobloch syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | PAX2 CL E G H | 5076 | 8616 | OMIM:120330 | Papillorenal syndrome | | | | 39 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | PAX2 CL E G H | 5076 | 8616 | ORPHA:1475 | Renal coloboma syndrome | HP:0040282 - Frequent | | | 39 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | PDE6B CL E G H | 5158 | 8786 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 126 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | PDE6C CL E G H | 5146 | 8787 | ORPHA:49382 | Achromatopsia | HP:0040282 - Frequent | | | 80 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | PDE6H CL E G H | 5149 | 8790 | ORPHA:49382 | Achromatopsia | HP:0040282 - Frequent | | | 14 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | PDE6H CL E G H | 5149 | 8790 | OMIM:610024 | Retinal cone dystrophy 3A | | | | 14 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | PDZD7 CL E G H | 79955 | 26257 | ORPHA:231178 | Usher syndrome type 2 | HP:0040282 - Frequent | | | 40 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | PDZD8 CL E G H | 118987 | 26974 | OMIM:620021 | | | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | PIGT CL E G H | 51604 | 14938 | ORPHA:369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 162 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:615108 | Cowden syndrome 5 | . | | | 162 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:269880 | Short syndrome | . | | | 43 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | PLOD1 CL E G H | 5351 | 9081 | OMIM:225400 | Ehlers-Danlos syndrome, kyphoscoliotic type, 1 | . | | | 105 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | PLOD1 CL E G H | 5351 | 9081 | ORPHA:1900 | Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency | HP:0040283 - Occasional | | | 105 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | PLOD3 CL E G H | 8985 | 9083 | OMIM:612394 | Bone fragility with contractures, arterial rupture, and deafness | . | | | 5 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | HP:0040283 - Occasional | | | 150 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | POC1B CL E G H | 282809 | 30836 | OMIM:615973 | Cone-Rod dystrophy 20 | | | | 3 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | . | | | 35 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | POLR1C CL E G H | 9533 | 20194 | OMIM:616494 | Leukodystrophy, hypomyelinating, 11 | HP:0040283 - Occasional | | | 38 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | . | | | 138 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:447896 | Tremor-ataxia-central hypomyelination syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | . | | | 67 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:614381 | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism | . | | | 67 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 180 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:588 | Muscle-eye-brain disease | HP:0040281 - Very frequent | | | 180 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:253280 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | | | | 180 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:613151 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 | . | | | 180 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:613157 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 | . | | | 180 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | POMK CL E G H | 84197 | 26267 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 18 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 213 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 213 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:588 | Muscle-eye-brain disease | HP:0040281 - Very frequent | | | 213 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 213 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:613155 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 | HP:0040283 - Occasional | | | 213 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 221 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 221 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:588 | Muscle-eye-brain disease | HP:0040281 - Very frequent | | | 221 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 221 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:613150 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | . | | | 221 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:613156 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 | . | | | 221 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | PPP1R21 CL E G H | 129285 | 30595 | OMIM:619383 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA | | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | PPP2R5D CL E G H | 5528 | 9312 | OMIM:616355 | Mental retardation, autosomal dominant 35 | . | | | 10 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | PRDM5 CL E G H | 11107 | 9349 | ORPHA:90354 | Brittle cornea syndrome | | | | 58 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | PRDM5 CL E G H | 11107 | 9349 | OMIM:614170 | Brittle cornea syndrome 2 | . | | | 58 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | PRIMPOL CL E G H | 201973 | 26575 | OMIM:615420 | Myopia 22, autosomal dominant | . | | | 1 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | PRPS1 CL E G H | 5631 | 9462 | OMIM:300661 | Phosphoribosylpyrophosphate synthetase superactivity | | | | 49 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:411543 | Severe phosphoribosylpyrophosphate synthetase superactivity | HP:0040284 - Very rare | | | 49 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | PRR12 CL E G H | 57479 | 29217 | OMIM:619539 | NEUROOCULAR SYNDROME; NOC | | | | 1 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | PSMD12 CL E G H | 5718 | 9557 | ORPHA:529962 | 17q24.2 microdeletion syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | PTEN CL E G H | 5728 | 9588 | OMIM:158350 | Cowden syndrome 1 | . | | | 948 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:2969 | Proteus-like syndrome | HP:0040281 - Very frequent | | | 948 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:163950 | Noonan syndrome 1 | . | | | 291 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | 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:0000545 | HP:0000545 | Myopia | 0 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | RAB28 CL E G H | 9364 | 9768 | OMIM:615374 | Cone-Rod dystrophy 18 | | | | 6 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 25 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | 150 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | RECQL4 CL E G H | 9401 | 9949 | OMIM:218600 | Baller-Gerold syndrome | . | | | 445 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | RERE CL E G H | 473 | 9965 | ORPHA:494344 | RERE-related neurodevelopmental syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | RHO CL E G H | 6010 | 10012 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 107 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | RHOA CL E G H | 387 | 667 | OMIM:618727 | ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB | | | | 8 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | RIN2 CL E G H | 54453 | 18750 | OMIM:613075 | Macs syndrome | | | | 43 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | RIN2 CL E G H | 54453 | 18750 | ORPHA:217335 | RIN2 syndrome | | | | 43 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | RMRP CL E G H | 6023 | 10031 | ORPHA:175 | Cartilage-hair hypoplasia | HP:0040282 - Frequent | | | 37 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | RP1 CL E G H | 6101 | 10263 | OMIM:180100 | Retinitis pigmentosa 1 | . | | | 111 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | RP2 CL E G H | 6102 | 10274 | OMIM:312600 | Retinitis pigmentosa 2, X-linked | . | | | 45 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | RPE65 CL E G H | 6121 | 10294 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 129 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | RPGR CL E G H | 6103 | 10295 | ORPHA:49382 | Achromatopsia | HP:0040282 - Frequent | | | 200 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | RPGR CL E G H | 6103 | 10295 | OMIM:304020 | Cone-rod dystrophy, X-linked, 1 | | | | 200 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | RPGR CL E G H | 6103 | 10295 | OMIM:300029 | Retinitis pigmentosa 3 | | | | 200 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | RPL10 CL E G H | 6134 | 10298 | ORPHA:459070 | X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SAG CL E G H | 6295 | 10521 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 32 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SAG CL E G H | 6295 | 10521 | ORPHA:75382 | Oguchi disease | HP:0040283 - Occasional | | | 32 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SCO2 CL E G H | 9997 | 10604 | OMIM:608908 | Myopia 6 | . | | | 40 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 237 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 147 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 129 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SEC23B CL E G H | 10483 | 10702 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:616078 | Mental retardation, autosomal dominant 29 | | | | 143 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 60 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SETD5 CL E G H | 55209 | 25566 | ORPHA:404440 | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | HP:0040283 - Occasional | | | 43 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SETD5 CL E G H | 55209 | 25566 | OMIM:615761 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23 | | | | 43 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SHOC2 CL E G H | 8036 | 15454 | OMIM:607721 | Noonan syndrome-like with loose anagen hair 1 | | | | 74 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SKI CL E G H | 6497 | 10896 | OMIM:182212 | Shprintzen-Goldberg craniosynostosis syndrome | | | | 150 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:2462 | Shprintzen-Goldberg syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SLC12A6 CL E G H | 9990 | 10914 | ORPHA:1496 | Corpus callosum agenesis-neuronopathy syndrome | HP:0040283 - Occasional | | | 163 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SLC24A1 CL E G H | 9187 | 10975 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 66 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:1369 | Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome | HP:0040282 - Frequent | | | 68 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SLC2A10 CL E G H | 81031 | 13444 | ORPHA:3342 | Arterial tortuosity syndrome | HP:0040283 - Occasional | | | 178 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SLC39A5 CL E G H | 283375 | 20502 | OMIM:615946 | Myopia 24, autosomal dominant | . | | | 2 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SLITRK6 CL E G H | 84189 | 23503 | OMIM:221200 | Deafness and myopia | . | | | 4 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SMARCA4 CL E G H | 6597 | 11100 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 617 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | . | | | 74 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 87 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SMARCC2 CL E G H | 6601 | 11105 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SMARCD1 CL E G H | 6602 | 11106 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 47 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 135 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 91 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SMC3 CL E G H | 9126 | 2468 | OMIM:610759 | Cornelia de Lange syndrome 3 | | | | 91 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SMS CL E G H | 6611 | 11123 | OMIM:309583 | Mental retardation, X-linked, syndromic, Snyder-Robinson type | | | | 19 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SMS CL E G H | 6611 | 11123 | ORPHA:3063 | X-linked intellectual disability, Snyder type | | | | 19 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SNRPN CL E G H | 6638 | 11164 | OMIM:105830 | Angelman syndrome | . | | | 37 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | HP:0040283 - Occasional | | | 37 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | | | | 61 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SOX11 CL E G H | 6664 | 11191 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SOX4 CL E G H | 6659 | 11200 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SOX5 CL E G H | 6660 | 11201 | ORPHA:313892 | Developmental and speech delay due to SOX5 deficiency | HP:0040282 - Frequent | | | 11 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SOX5 CL E G H | 6660 | 11201 | OMIM:616803 | Lamb-Shaffer syndrome | . | | | 11 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | | | | 109 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 48 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | SRCAP CL E G H | 10847 | 16974 | OMIM:619595 | DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA | | | | 138 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | TAF1 CL E G H | 6872 | 11535 | OMIM:300966 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 | | | | 21 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:220500 | Doors syndrome | | | | 271 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | HP:0040283 - Occasional | | | 271 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | TBC1D7 CL E G H | 51256 | 21066 | OMIM:248000 | Macrocephaly/megalencephaly syndrome, autosomal recessive | HP:0040283 - Occasional | | | 4 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | TCF20 CL E G H | 6942 | 11631 | OMIM:618430 | Developmental delay with variable intellectual impairment and behavioral abnormalities | . | | | 1 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | TCF4 CL E G H | 6925 | 11634 | OMIM:610954 | Pitt-Hopkins syndrome | . | | | 241 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:2896 | Pitt-Hopkins syndrome | HP:0040281 - Very frequent | | | 241 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | TEAD1 CL E G H | 7003 | 11714 | OMIM:108985 | Sveinsson chorioretinal atrophy | . | | | 1 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | . | | | 12 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | TFAP2B CL E G H | 7021 | 11743 | ORPHA:46627 | Char syndrome | HP:0040283 - Occasional | | | 104 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | TFE3 CL E G H | 7030 | 11752 | OMIM:301066 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF | | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98964 | Lattice corneal dystrophy type I | | | | 58 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | THG1L CL E G H | 54974 | 26053 | OMIM:618800 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28 | | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | THOC6 CL E G H | 79228 | 28369 | OMIM:613680 | Beaulieu-Boycott-Innes syndrome | . | | | 1 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | TIMM8A CL E G H | 1678 | 11817 | OMIM:304700 | Mohr-Tranebjaerg syndrome | . | | | 15 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | TKFC CL E G H | 26007 | 24552 | ORPHA:1369 | Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome | HP:0040282 - Frequent | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | TLK2 CL E G H | 11011 | 11842 | OMIM:618050 | Mental retardation, autosomal dominant 57 | | | | 1 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | TMEM63A CL E G H | 9725 | 29118 | OMIM:618688 | LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19 | | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | TMEM94 CL E G H | 9772 | 28983 | OMIM:618316 | Intellectual developmental disorder with cardiac defects and dysmorphic facies | . | | | 1 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | TNPO2 CL E G H | 30000 | 19998 | OMIM:619556 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD | | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:369847 | Intellectual disability-hyperkinetic movement-truncal ataxia syndrome | HP:0040283 - Occasional | | | 27 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | TRAPPC11 CL E G H | 60684 | 25751 | OMIM:615356 | Muscular dystrophy, limb-girdle, autosomal recessive 18 | . | | | 27 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | TRIT1 CL E G H | 54802 | 20286 | OMIM:617873 | Combined oxidative phosphorylation deficiency 35 | . | | | 12 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | TRNT1 CL E G H | 51095 | 17341 | OMIM:616959 | Retinitis pigmentosa and erythrocytic microcytosis | | | | 28 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | TRPM1 CL E G H | 4308 | 7146 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 104 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | TRPM1 CL E G H | 4308 | 7146 | OMIM:613216 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C | | | | 104 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | TSPAN7 CL E G H | 7102 | 11854 | OMIM:300210 | MENTAL RETARDATION, X-LINKED 58; MRX58 | | | | 26 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | TTC8 CL E G H | 123016 | 20087 | OMIM:613464 | Retinitis pigmentosa 51 | | | | 41 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | TTLL5 CL E G H | 23093 | 19963 | OMIM:615860 | Cone-Rod dystrophy 19 | | | | 9 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | TUB CL E G H | 7275 | 12406 | OMIM:616188 | Retinal dystrophy and obesity | . | | | 1 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | TULP1 CL E G H | 7287 | 12423 | OMIM:613843 | Leber congenital amaurosis 15 | . | | | 66 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:920 | Ablepharon macrostomia syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | TYR CL E G H | 7299 | 12442 | OMIM:203100 | Albinism, oculocutaneous, type IA | . | | | 146 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | UBE3A CL E G H | 7337 | 12496 | OMIM:105830 | Angelman syndrome | . | | | 278 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | UBE3B CL E G H | 89910 | 13478 | OMIM:244450 | Kaufman oculocerebrofacial syndrome | . | | | 13 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | UBE3B CL E G H | 89910 | 13478 | ORPHA:2707 | Oculocerebrofacial syndrome, Kaufman type | HP:0040282 - Frequent | | | 13 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | UCHL1 CL E G H | 7345 | 12513 | OMIM:615491 | Spastic paraplegia 79, autosomal recessive | . | | | 21 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | USF3 CL E G H | 205717 | 30494 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | USH2A CL E G H | 7399 | 12601 | ORPHA:231178 | Usher syndrome type 2 | HP:0040282 - Frequent | | | 777 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | USP7 CL E G H | 7874 | 12630 | ORPHA:500055 | 16p13.2 microdeletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | USP9X CL E G H | 8239 | 12632 | OMIM:300968 | Mental retardation, X-linked 99, syndromic, female-restricted | . | | | 27 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | 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:0000545 | HP:0000545 | Myopia | 0 | VARS1 CL E G H | 7407 | 12651 | OMIM:617802 | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | . | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | VCAN CL E G H | 1462 | 2464 | OMIM:143200 | Wagner vitreoretinopathy | . | | | 180 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | VPS13B CL E G H | 157680 | 2183 | OMIM:216550 | Cohen syndrome | | | | 546 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | VPS13B CL E G H | 157680 | 2183 | ORPHA:193 | Cohen syndrome | HP:0040281 - Very frequent | | | 546 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | VPS50 CL E G H | 55610 | 25956 | OMIM:619685 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC | | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | WAC CL E G H | 51322 | 17327 | OMIM:616708 | Desanto-Shinawi syndrome | . | | | 20 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | 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:0000545 | HP:0000545 | Myopia | 0 | WDR19 CL E G H | 57728 | 18340 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040283 - Occasional | | | 95 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:614376 | Short-Rib thoracic dysplasia 5 with or without polydactyly | . | | | 95 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | WDR26 CL E G H | 80232 | 21208 | ORPHA:513456 | Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | WDR35 CL E G H | 57539 | 29250 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040283 - Occasional | | | 136 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | WHRN CL E G H | 25861 | 16361 | ORPHA:231178 | Usher syndrome type 2 | HP:0040282 - Frequent | | | 155 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | XYLT1 CL E G H | 64131 | 15516 | ORPHA:370930 | XYLT1-CDG | HP:0040283 - Occasional | | | 14 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | XYLT2 CL E G H | 64132 | 15517 | ORPHA:85194 | Spondylo-ocular syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | YME1L1 CL E G H | 10730 | 12843 | OMIM:617302 | Optic atrophy 11 | . | | | 2 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | HP:0040283 - Occasional | | | 362 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | HP:0040283 - Occasional | | | 362 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ZFHX4 CL E G H | 79776 | 30939 | ORPHA:91411 | Congenital ptosis | | | | | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ZNF408 CL E G H | 79797 | 20041 | OMIM:616468 | Exudative vitreoretinopathy 6 | . | | | 14 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ZNF408 CL E G H | 79797 | 20041 | OMIM:616469 | Retinitis pigmentosa 72 | | | | 14 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ZNF469 CL E G H | 84627 | 23216 | OMIM:229200 | Brittle cornea syndrome | . | | | 397 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ZNF469 CL E G H | 84627 | 23216 | ORPHA:90354 | Brittle cornea syndrome | | | | 397 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ZNF644 CL E G H | 84146 | 29222 | OMIM:614167 | Myopia 21, autosomal dominant | | | | 5 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ZSWIM6 CL E G H | 57688 | 29316 | OMIM:603671 | Acromelic frontonasal dysostosis | HP:0040283 - Occasional | | | 5 | | |
HP:0000545 | HP:0000545 | Myopia | 0 | ZSWIM6 CL E G H | 57688 | 29316 | ORPHA:1827 | Acromelic frontonasal dysplasia | HP:0040283 - Occasional | | | 5 | | |
HP:0000545 | HP:0500066 | Latent myopia | 1 | CL E G H | | | | | | | | | | |
HP:0000545 | HP:0031730 | Axial myopia | 1 | CL E G H | | | | | | | | | | |
HP:0000545 | HP:0011003 | High myopia | 1 | ADAMTS10 CL E G H | 81794 | 13201 | ORPHA:3449 | Weill-Marchesani syndrome | HP:0040281 - Very frequent | | | 63 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | ADAMTS10 CL E G H | 81794 | 13201 | OMIM:277600 | Weill-Marchesani syndrome 1 | | | | 63 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | ADAMTSL4 CL E G H | 54507 | 19706 | OMIM:225200 | Ectopia lentis et pupillae | HP:0040283 - Occasional | | | 84 | | |
HP:0000545 | HP:0025573 | Mild myopia | 1 | AHDC1 CL E G H | 27245 | 25230 | ORPHA:412069 | AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | ARR3 CL E G H | 407 | 710 | OMIM:301010 | MYOPIA 26, X-LINKED, FEMALE-LIMITED; MYP26 | | | | 1 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | ASPH CL E G H | 444 | 757 | OMIM:601552 | Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs | | | | 4 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:97297 | Bohring-Opitz syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | HP:0040281 - Very frequent | | | 140 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:2834 | Wrinkly skin syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | ATP6V1A CL E G H | 523 | 851 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | HP:0040281 - Very frequent | | | 3 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | ATP6V1E1 CL E G H | 529 | 857 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | HP:0040281 - Very frequent | | | 2 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | B4GALT1 CL E G H | 2683 | 924 | ORPHA:79332 | B4GALT1-CDG | | | | 85 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | BAP1 CL E G H | 8314 | 950 | OMIM:619762 | KURY-ISIDOR SYNDROME; KURIS | | | | 184 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | CNGB3 CL E G H | 54714 | 2153 | OMIM:262300 | Achromatopsia 3 | . | | | 194 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | 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:0000545 | HP:0025573 | Mild myopia | 1 | COL11A2 CL E G H | 1302 | 2187 | ORPHA:1427 | Otospondylomegaepiphyseal dysplasia | HP:0040284 - Very rare | | | 222 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | . | | | 177 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:485 | Kniest dysplasia | HP:0040281 - Very frequent | | | 284 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | COL9A1 CL E G H | 1297 | 2217 | OMIM:614134 | STICKLER SYNDROME, TYPE IV; STL4 | | | | 110 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | COL9A2 CL E G H | 1298 | 2218 | OMIM:614284 | Stickler syndrome, type V | . | | | 110 | | |
HP:0000545 | HP:0031624 | Moderate myopia | 1 | COL9A3 CL E G H | 1299 | 2219 | OMIM:620022 | | | | | 137 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | COL9A3 CL E G H | 1299 | 2219 | OMIM:620022 | | | | | 137 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | COX7B CL E G H | 1349 | 2291 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 6 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | CPSF1 CL E G H | 29894 | 2324 | OMIM:618827 | MYOPIA 27, AUTOSOMAL DOMINANT; MYP27 | | | | | | |
HP:0000545 | HP:0011003 | High myopia | 1 | CRIPT CL E G H | 9419 | 14312 | OMIM:615789 | Short stature with microcephaly and distinctive facies | . | | | 4 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | CYP1B1 CL E G H | 1545 | 2597 | ORPHA:98977 | Juvenile glaucoma | HP:0040283 - Occasional | | | 101 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | CYP4V2 CL E G H | 285440 | 23198 | OMIM:210370 | Bietti crystalline corneoretinal dystrophy | HP:0040283 - Occasional | | | 126 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | DAG1 CL E G H | 1605 | 2666 | ORPHA:370997 | Muscle-eye-brain disease with bilateral multicystic leucodystrophy | HP:0040283 - Occasional | | | 108 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | DOHH CL E G H | 83475 | 28662 | OMIM:620066 | | | | | | | |
HP:0000545 | HP:0011003 | High myopia | 1 | DPH5 CL E G H | 51611 | 24270 | OMIM:620070 | | | | | | | |
HP:0000545 | HP:0011003 | High myopia | 1 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:98977 | Juvenile glaucoma | HP:0040283 - Occasional | | | 54 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | EFL1 CL E G H | 79631 | 25789 | OMIM:617941 | Shwachman-Diamond syndrome 2 | . | | | 1 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | ELOVL4 CL E G H | 6785 | 14415 | OMIM:614457 | Ichthyosis, spastic quadriplegia, and mental retardation | HP:0040283 - Occasional | | | 62 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | ERBB3 CL E G H | 2065 | 3431 | OMIM:607598 | Lethal congenital contracture syndrome 2 | . | | | 12 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | FBN1 CL E G H | 2200 | 3603 | OMIM:616914 | Marfan lipodystrophy syndrome | | | | 1361 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | FBN1 CL E G H | 2200 | 3603 | ORPHA:284979 | Neonatal Marfan syndrome | HP:0040281 - Very frequent | | | 1361 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | FBN1 CL E G H | 2200 | 3603 | ORPHA:3449 | Weill-Marchesani syndrome | HP:0040281 - Very frequent | | | 1361 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | FBN1 CL E G H | 2200 | 3603 | OMIM:608328 | Weill-Marchesani syndrome 2, dominant | | | | 1361 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:616482 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | HP:0040283 - Occasional | | | 145 | | |
HP:0000545 | HP:0031624 | Moderate myopia | 1 | FLNA CL E G H | 2316 | 3754 | ORPHA:555877 | FLNA-related X-linked myxomatous valvular dysplasia | | | | 493 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | GLRA2 CL E G H | 2742 | 4327 | OMIM:301076 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP | | | | | | |
HP:0000545 | HP:0025573 | Mild myopia | 1 | GNB3 CL E G H | 2784 | 4400 | OMIM:617024 | Night blindness, congenital stationary, type 1H | . | | | 5 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | GZF1 CL E G H | 64412 | 15808 | OMIM:617662 | Joint laxity, short stature, and myopia | . | | | | | |
HP:0000545 | HP:0031624 | Moderate myopia | 1 | H4C3 CL E G H | 8364 | 4787 | OMIM:619758 | TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1 | | | | | | |
HP:0000545 | HP:0025573 | Mild myopia | 1 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0000545 | HP:0031624 | Moderate myopia | 1 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0000545 | HP:0011003 | High myopia | 1 | HCCS CL E G H | 3052 | 4837 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 11 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | HERC1 CL E G H | 8925 | 4867 | ORPHA:457359 | Megalencephaly-severe kyphoscoliosis-overgrowth syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | HS6ST2 CL E G H | 90161 | 19133 | OMIM:301025 | Paganini-Miozzo syndrome | . | | | | | |
HP:0000545 | HP:0011003 | High myopia | 1 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0000545 | HP:0011003 | High myopia | 1 | IRX5 CL E G H | 10265 | 14361 | OMIM:611174 | Hamamy syndrome | . | | | 4 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | KAT5 CL E G H | 10524 | 5275 | OMIM:619103 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB | | | | 1 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | LAMB2 CL E G H | 3913 | 6487 | OMIM:609049 | Pierson syndrome | | | | 92 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | LOXL3 CL E G H | 84695 | 13869 | OMIM:619781 | MYOPIA 28, AUTOSOMAL RECESSIVE; MYP28 | | | | 4 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | LRP2 CL E G H | 4036 | 6694 | OMIM:222448 | Donnai-Barrow syndrome | | | | 289 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | LRPAP1 CL E G H | 4043 | 6701 | OMIM:615431 | Myopia 23, autosomal recessive | | | | 4 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | LTBP2 CL E G H | 4053 | 6715 | ORPHA:3449 | Weill-Marchesani syndrome | HP:0040281 - Very frequent | | | 123 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | MAF CL E G H | 4094 | 6776 | OMIM:610202 | Cataract 21, multiple types | | | | 21 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | MYOC CL E G H | 4653 | 7610 | ORPHA:98977 | Juvenile glaucoma | HP:0040283 - Occasional | | | 47 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | NDP CL E G H | 4693 | 7678 | OMIM:305390 | Exudative vitreoretinopathy 2, X-linked | | | | 39 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | NDUFB11 CL E G H | 54539 | 20372 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 3 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | | | | 40 | | |
HP:0000545 | HP:0011003 | High 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:0000545 | HP:0011003 | High myopia | 1 | NYX CL E G H | 60506 | 8082 | OMIM:310500 | Night blindness, congenital stationary, type 1A | . | | | 42 | | |
HP:0000545 | HP:0025573 | Mild myopia | 1 | OFD1 CL E G H | 8481 | 2567 | OMIM:300424 | Retinitis pigmentosa 23 | | | | 201 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | P3H2 CL E G H | 55214 | 19317 | OMIM:614292 | Myopia, high, with cataract and vitreoretinal degeneration | . | | | 5 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | P4HA2 CL E G H | 8974 | 8547 | OMIM:617238 | Myopia 25, autosomal dominant | . | | | 3 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | PAK2 CL E G H | 5062 | 8591 | OMIM:618458 | | | | | | | |
HP:0000545 | HP:0011003 | High myopia | 1 | PAX2 CL E G H | 5076 | 8616 | OMIM:120330 | Papillorenal syndrome | | | | 39 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | PDE6H CL E G H | 5149 | 8790 | OMIM:610024 | Retinal cone dystrophy 3A | | | | 14 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | POC1B CL E G H | 282809 | 30836 | OMIM:615973 | Cone-Rod dystrophy 20 | | | | 3 | | |
HP:0000545 | HP:0025573 | Mild myopia | 1 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | | | | 35 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | POLR3B CL E G H | 55703 | 30348 | OMIM:614381 | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism | | | | 67 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:613157 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 | | | | 180 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | PRDM5 CL E G H | 11107 | 9349 | ORPHA:90354 | Brittle cornea syndrome | HP:0040281 - Very frequent | | | 58 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | RAB28 CL E G H | 9364 | 9768 | OMIM:615374 | Cone-Rod dystrophy 18 | . | | | 6 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | RIN2 CL E G H | 54453 | 18750 | OMIM:613075 | Macs syndrome | | | | 43 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | RIN2 CL E G H | 54453 | 18750 | ORPHA:217335 | RIN2 syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | RP2 CL E G H | 6102 | 10274 | OMIM:312600 | Retinitis pigmentosa 2, X-linked | | | | 45 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | RPGR CL E G H | 6103 | 10295 | OMIM:300029 | Retinitis pigmentosa 3 | | | | 200 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | SCO2 CL E G H | 9997 | 10604 | OMIM:608908 | Myopia 6 | | | | 40 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | SLC39A5 CL E G H | 283375 | 20502 | OMIM:615946 | Myopia 24, autosomal dominant | | | | 2 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | SLITRK6 CL E G H | 84189 | 23503 | OMIM:221200 | Deafness and myopia | . | | | 4 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | SMS CL E G H | 6611 | 11123 | OMIM:309583 | Mental retardation, X-linked, syndromic, Snyder-Robinson type | . | | | 19 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | SMS CL E G H | 6611 | 11123 | ORPHA:3063 | X-linked intellectual disability, Snyder type | HP:0040284 - Very rare | | | 19 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:220500 | Doors syndrome | . | | | 271 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98964 | Lattice corneal dystrophy type I | HP:0040283 - Occasional | | | 58 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | TTC8 CL E G H | 123016 | 20087 | OMIM:613464 | Retinitis pigmentosa 51 | . | | | 41 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | TTLL5 CL E G H | 23093 | 19963 | OMIM:615860 | Cone-Rod dystrophy 19 | | | | 9 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | VPS50 CL E G H | 55610 | 25956 | OMIM:619685 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC | | | | | | |
HP:0000545 | HP:0011003 | High myopia | 1 | ZNF408 CL E G H | 79797 | 20041 | OMIM:616469 | Retinitis pigmentosa 72 | | | | 14 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | ZNF469 CL E G H | 84627 | 23216 | ORPHA:90354 | Brittle cornea syndrome | HP:0040281 - Very frequent | | | 397 | | |
HP:0000545 | HP:0011003 | High myopia | 1 | ZNF644 CL E G H | 84146 | 29222 | OMIM:614167 | Myopia 21, autosomal dominant | . | | | 5 | | |