Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	ABCA12 CL E G H	26154	14637	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		130
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	ALDH3A2 CL E G H	224	403	ORPHA:816	Sjögren-Larsson syndrome		87
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	ALOX12B CL E G H	242	430	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		75
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	ALOXE3 CL E G H	59344	13743	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		63
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease		1
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	CERS3 CL E G H	204219	23752	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		5
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	CHST6 CL E G H	4166	6938	ORPHA:98969	Macular corneal dystrophy		129
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	CHST6 CL E G H	4166	6938	OMIM:217800	Macular dystrophy, corneal, 1		129
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability		6
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy		129
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	COL17A1 CL E G H	1308	2194	OMIM:122400	Epithelial recurrent erosion dystrophy		129
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	COL4A3 CL E G H	1285	2204	OMIM:203780	Alport syndrome, autosomal recessive		161
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	COL4A4 CL E G H	1286	2206	OMIM:203780	Alport syndrome, autosomal recessive		174
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	COL4A5 CL E G H	1287	2207	OMIM:301050	Alport syndrome, X-linked		678
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis		678
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis		18
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form		263
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		263
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa		263
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1		24
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum		30
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	DDB2 CL E G H	1643	2718	OMIM:278740	Xeroderma pigmentosum, complementation group E		30
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia		133
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III		133
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy		170
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease		1
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive		106
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum		106
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D		106
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum		54
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum		158
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum		83
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome		199
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease		59
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome		136
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome		17
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome		175
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome		175
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome		175
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome		145
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome		20
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome		20
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria		29
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness		199
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant		199
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis		53
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease		4
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome		4
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency		148
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease		60
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti		52
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome		8
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease		2
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease		1
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	KRT3 CL E G H	3850	6440	OMIM:618767	CORNEAL DYSTROPHY, MEESMANN, 2; MECD2		3
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome		70
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome		645
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome		22
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome		22
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked		22
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease		281
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		6
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive		9
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia		81
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	NIPAL4 CL E G H	348938	28018	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		60
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	NLRP3 CL E G H	114548	16400	OMIM:148200	Keratoendotheliitis fugax hereditaria		217
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome		187
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS		187
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4		97
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis		97
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia		194
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis		194
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	PAX6 CL E G H	5080	8620	OMIM:148190	Keratitis, hereditary		194
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy		759
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	PNPLA1 CL E G H	285848	21246	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		47
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	POLH CL E G H	5429	9181	ORPHA:90342	Xeroderma pigmentosum variant		155
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	POLH CL E G H	5429	9181	OMIM:278750	Xeroderma pigmentosum, Variant type		155
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	PRDM12 CL E G H	59335	13997	OMIM:616488	Neuropathy, hereditary sensory and autonomic, type VIII		6
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome		58
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome		5
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary		318
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica		55
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	SPINT2 CL E G H	10653	11247	OMIM:270420	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies		6
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2		1
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary		1
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease		2
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	TAT CL E G H	6898	11573	OMIM:276600	Tyrosine transaminase deficiency		43
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	TGFBI CL E G H	7045	11771	OMIM:602082	Corneal dystrophy of bowman layer, type II		58
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	TGFBI CL E G H	7045	11771	OMIM:121820	Corneal dystrophy, epithelial basement membrane		58
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	TGFBI CL E G H	7045	11771	OMIM:122200	Corneal dystrophy, lattice type I		58
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	TGFBI CL E G H	7045	11771	OMIM:608471	Corneal dystrophy, lattice type IIIA		58
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	TGFBI CL E G H	7045	11771	OMIM:608470	Corneal dystrophy, Reis-Bucklers type		58
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	TGFBI CL E G H	7045	11771	ORPHA:98962	Granular corneal dystrophy type I		58
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	TGFBI CL E G H	7045	11771	ORPHA:98963	Granular corneal dystrophy type II		58
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I		58
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	TGFBI CL E G H	7045	11771	ORPHA:98960	Thiel-Behnke corneal dystrophy		58
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	TGM1 CL E G H	7051	11777	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		98
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease		3
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome		140
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome		7
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria		31
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria		41
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome		65
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome		6
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia		177
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum		34
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A		34
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum		86
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	XPC CL E G H	7508	12816	OMIM:278720	Xeroderma pigmentosum, complementation group C		86
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	ZEB1 CL E G H	6935	11642	OMIM:613270	Corneal dystrophy, fuchs endothelial, 6		8
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome		83
HP:0011495	HP:0011495	Abnormal corneal epithelium morphology	0	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome		397
HP:0011495	HP:0200020	Corneal erosion	1	ABCA12 CL E G H	26154	14637	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent	130
HP:0011495	HP:0000491	Keratitis	1	ABCA12 CL E G H	26154	14637	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent	130
HP:0011495	HP:0000491	Keratitis	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0011495	HP:0000491	Keratitis	1	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0011495	HP:0200020	Corneal erosion	1	ALDH3A2 CL E G H	224	403	ORPHA:816	Sjögren-Larsson syndrome	HP:0040282 - Frequent	87
HP:0011495	HP:0200020	Corneal erosion	1	ALOX12B CL E G H	242	430	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent	75
HP:0011495	HP:0000491	Keratitis	1	ALOX12B CL E G H	242	430	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent	75
HP:0011495	HP:0000491	Keratitis	1	ALOXE3 CL E G H	59344	13743	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent	63
HP:0011495	HP:0200020	Corneal erosion	1	ALOXE3 CL E G H	59344	13743	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent	63
HP:0011495	HP:0000491	Keratitis	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0011495	HP:0000491	Keratitis	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease		1
HP:0011495	HP:0000491	Keratitis	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0011495	HP:0000491	Keratitis	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0011495	HP:0200020	Corneal erosion	1	CERS3 CL E G H	204219	23752	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent	5
HP:0011495	HP:0000491	Keratitis	1	CERS3 CL E G H	204219	23752	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent	5
HP:0011495	HP:0200020	Corneal erosion	1	CHST6 CL E G H	4166	6938	ORPHA:98969	Macular corneal dystrophy		129
HP:0011495	HP:0200020	Corneal erosion	1	CHST6 CL E G H	4166	6938	OMIM:217800	Macular dystrophy, corneal, 1		129
HP:0011495	HP:0000491	Keratitis	1	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability	HP:0040282 - Frequent	6
HP:0011495	HP:0200020	Corneal erosion	1	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability	HP:0040283 - Occasional	6
HP:0011495	HP:0200020	Corneal erosion	1	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy		129
HP:0011495	HP:0200020	Corneal erosion	1	COL17A1 CL E G H	1308	2194	OMIM:122400	Epithelial recurrent erosion dystrophy	.	129
HP:0011495	HP:0000491	Keratitis	1	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy		129
HP:0011495	HP:0200020	Corneal erosion	1	COL4A3 CL E G H	1285	2204	OMIM:203780	Alport syndrome, autosomal recessive	.	161
HP:0011495	HP:0200020	Corneal erosion	1	COL4A4 CL E G H	1286	2206	OMIM:203780	Alport syndrome, autosomal recessive	.	174
HP:0011495	HP:0200020	Corneal erosion	1	COL4A5 CL E G H	1287	2207	OMIM:301050	Alport syndrome, X-linked	.	678
HP:0011495	HP:0000491	Keratitis	1	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional	678
HP:0011495	HP:0000491	Keratitis	1	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional	18
HP:0011495	HP:0200020	Corneal erosion	1	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040283 - Occasional	263
HP:0011495	HP:0200020	Corneal erosion	1	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	263
HP:0011495	HP:0200020	Corneal erosion	1	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa	HP:0040283 - Occasional	263
HP:0011495	HP:0000491	Keratitis	1	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1	.	24
HP:0011495	HP:0200020	Corneal erosion	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0011495	HP:0000491	Keratitis	1	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	30
HP:0011495	HP:0000491	Keratitis	1	DDB2 CL E G H	1643	2718	OMIM:278740	Xeroderma pigmentosum, complementation group E	.	30
HP:0011495	HP:0200020	Corneal erosion	1	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia	HP:0040282 - Frequent	133
HP:0011495	HP:0200020	Corneal erosion	1	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III		133
HP:0011495	HP:0012804	Corneal ulceration	1	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III	.	133
HP:0011495	HP:0200020	Corneal erosion	1	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy	HP:0040283 - Occasional	170
HP:0011495	HP:0000491	Keratitis	1	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy		170
HP:0011495	HP:0000491	Keratitis	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease		1
HP:0011495	HP:0000491	Keratitis	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0011495	HP:0000491	Keratitis	1	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive		106
HP:0011495	HP:0000491	Keratitis	1	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	106
HP:0011495	HP:0000491	Keratitis	1	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D	.	106
HP:0011495	HP:0000491	Keratitis	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0011495	HP:0000491	Keratitis	1	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	54
HP:0011495	HP:0000491	Keratitis	1	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	158
HP:0011495	HP:0000491	Keratitis	1	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	83
HP:0011495	HP:0012804	Corneal ulceration	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040284 - Very rare	199
HP:0011495	HP:0000491	Keratitis	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0011495	HP:0000491	Keratitis	1	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome	.	199
HP:0011495	HP:0012804	Corneal ulceration	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040284 - Very rare	55
HP:0011495	HP:0000491	Keratitis	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0011495	HP:0000491	Keratitis	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease		59
HP:0011495	HP:0000491	Keratitis	1	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0011495	HP:0200020	Corneal erosion	1	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome		136
HP:0011495	HP:0200020	Corneal erosion	1	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome		17
HP:0011495	HP:0000491	Keratitis	1	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome		17
HP:0011495	HP:0200020	Corneal erosion	1	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:0011495	HP:0012804	Corneal ulceration	1	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	17
HP:0011495	HP:0200020	Corneal erosion	1	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040283 - Occasional	175
HP:0011495	HP:0000491	Keratitis	1	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome	.	175
HP:0011495	HP:0012804	Corneal ulceration	1	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	175
HP:0011495	HP:0000491	Keratitis	1	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome		175
HP:0011495	HP:0200020	Corneal erosion	1	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:0011495	HP:0200020	Corneal erosion	1	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome		175
HP:0011495	HP:0200020	Corneal erosion	1	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:0011495	HP:0012804	Corneal ulceration	1	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	145
HP:0011495	HP:0200020	Corneal erosion	1	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome		145
HP:0011495	HP:0000491	Keratitis	1	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome		145
HP:0011495	HP:0200020	Corneal erosion	1	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome		20
HP:0011495	HP:0012804	Corneal ulceration	1	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome	.	20
HP:0011495	HP:0200020	Corneal erosion	1	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome	HP:0040281 - Very frequent	20
HP:0011495	HP:0000491	Keratitis	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria		29
HP:0011495	HP:0012804	Corneal ulceration	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional	29
HP:0011495	HP:0000491	Keratitis	1	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness		199
HP:0011495	HP:0000491	Keratitis	1	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant		199
HP:0011495	HP:0012804	Corneal ulceration	1	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant	.	199
HP:0011495	HP:0200020	Corneal erosion	1	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant		199
HP:0011495	HP:0000491	Keratitis	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome	HP:0040281 - Very frequent	199
HP:0011495	HP:0200020	Corneal erosion	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome	HP:0040283 - Occasional	199
HP:0011495	HP:0200020	Corneal erosion	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome	HP:0040283 - Occasional	56
HP:0011495	HP:0000491	Keratitis	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome	HP:0040281 - Very frequent	56
HP:0011495	HP:0012804	Corneal ulceration	1	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040282 - Frequent	53
HP:0011495	HP:0000491	Keratitis	1	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis		53
HP:0011495	HP:0000491	Keratitis	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0011495	HP:0000491	Keratitis	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0011495	HP:0000491	Keratitis	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease		4
HP:0011495	HP:0200020	Corneal erosion	1	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional	4
HP:0011495	HP:0000491	Keratitis	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0011495	HP:0000491	Keratitis	1	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency		148
HP:0011495	HP:0000491	Keratitis	1	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0011495	HP:0000491	Keratitis	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease		60
HP:0011495	HP:0000491	Keratitis	1	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.	52
HP:0011495	HP:0000491	Keratitis	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040283 - Occasional	52
HP:0011495	HP:0200020	Corneal erosion	1	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional	8
HP:0011495	HP:0000491	Keratitis	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease		2
HP:0011495	HP:0000491	Keratitis	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0011495	HP:0000491	Keratitis	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0011495	HP:0000491	Keratitis	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease		1
HP:0011495	HP:0000491	Keratitis	1	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0011495	HP:0200020	Corneal erosion	1	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome	.
HP:0011495	HP:0012804	Corneal ulceration	1	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome	.
HP:0011495	HP:0000491	Keratitis	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0011495	HP:0200020	Corneal erosion	1	KRT3 CL E G H	3850	6440	OMIM:618767	CORNEAL DYSTROPHY, MEESMANN, 2; MECD2		3
HP:0011495	HP:0000491	Keratitis	1	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome		70
HP:0011495	HP:0012804	Corneal ulceration	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040284 - Very rare	645
HP:0011495	HP:0000491	Keratitis	1	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0011495	HP:0200020	Corneal erosion	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040282 - Frequent	22
HP:0011495	HP:0000491	Keratitis	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional	22
HP:0011495	HP:0000491	Keratitis	1	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.	22
HP:0011495	HP:0200020	Corneal erosion	1	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome		22
HP:0011495	HP:0000491	Keratitis	1	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked	.	22
HP:0011495	HP:0000491	Keratitis	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease		281
HP:0011495	HP:0200020	Corneal erosion	1	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	6
HP:0011495	HP:0000491	Keratitis	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0011495	HP:0000491	Keratitis	1	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive		9
HP:0011495	HP:0012804	Corneal ulceration	1	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0011495	HP:0200020	Corneal erosion	1	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0011495	HP:0000491	Keratitis	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia		81
HP:0011495	HP:0012804	Corneal ulceration	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040284 - Very rare	81
HP:0011495	HP:0012804	Corneal ulceration	1	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation	.	32
HP:0011495	HP:0000491	Keratitis	1	NIPAL4 CL E G H	348938	28018	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent	60
HP:0011495	HP:0200020	Corneal erosion	1	NIPAL4 CL E G H	348938	28018	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent	60
HP:0011495	HP:0000491	Keratitis	1	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0011495	HP:0000491	Keratitis	1	NLRP3 CL E G H	114548	16400	OMIM:148200	Keratoendotheliitis fugax hereditaria	.	217
HP:0011495	HP:0000491	Keratitis	1	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040281 - Very frequent	187
HP:0011495	HP:0000491	Keratitis	1	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS		187
HP:0011495	HP:0012804	Corneal ulceration	1	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040284 - Very rare	97
HP:0011495	HP:0012804	Corneal ulceration	1	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis	.	97
HP:0011495	HP:0200020	Corneal erosion	1	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis		97
HP:0011495	HP:0000491	Keratitis	1	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis	.	97
HP:0011495	HP:0200020	Corneal erosion	1	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia		194
HP:0011495	HP:0000491	Keratitis	1	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis	HP:0040280 - Obligate	194
HP:0011495	HP:0000491	Keratitis	1	PAX6 CL E G H	5080	8620	OMIM:148190	Keratitis, hereditary	.	194
HP:0011495	HP:0200020	Corneal erosion	1	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy	HP:0040283 - Occasional
HP:0011495	HP:0000491	Keratitis	1	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy
HP:0011495	HP:0200020	Corneal erosion	1	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated	HP:0040283 - Occasional	21
HP:0011495	HP:0000491	Keratitis	1	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy	.	759
HP:0011495	HP:0000491	Keratitis	1	PNPLA1 CL E G H	285848	21246	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent	47
HP:0011495	HP:0200020	Corneal erosion	1	PNPLA1 CL E G H	285848	21246	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent	47
HP:0011495	HP:0000491	Keratitis	1	POLH CL E G H	5429	9181	ORPHA:90342	Xeroderma pigmentosum variant	HP:0040282 - Frequent	155
HP:0011495	HP:0000491	Keratitis	1	POLH CL E G H	5429	9181	OMIM:278750	Xeroderma pigmentosum, Variant type	.	155
HP:0011495	HP:0012804	Corneal ulceration	1	PRDM12 CL E G H	59335	13997	OMIM:616488	Neuropathy, hereditary sensory and autonomic, type VIII	.	6
HP:0011495	HP:0200020	Corneal erosion	1	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome	HP:0040283 - Occasional	58
HP:0011495	HP:0012804	Corneal ulceration	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0011495	HP:0000491	Keratitis	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0011495	HP:0000491	Keratitis	1	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome		5
HP:0011495	HP:0000491	Keratitis	1	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary		318
HP:0011495	HP:0000491	Keratitis	1	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional	71
HP:0011495	HP:0200020	Corneal erosion	1	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica	HP:0040283 - Occasional	55
HP:0011495	HP:0200020	Corneal erosion	1	SPINT2 CL E G H	10653	11247	OMIM:270420	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies	.	6
HP:0011495	HP:0000491	Keratitis	1	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2		1
HP:0011495	HP:0000491	Keratitis	1	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary		1
HP:0011495	HP:0000491	Keratitis	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease		2
HP:0011495	HP:0000491	Keratitis	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0011495	HP:0012804	Corneal ulceration	1	TAT CL E G H	6898	11573	OMIM:276600	Tyrosine transaminase deficiency		43
HP:0011495	HP:0200020	Corneal erosion	1	TGFBI CL E G H	7045	11771	OMIM:602082	Corneal dystrophy of bowman layer, type II		58
HP:0011495	HP:0200020	Corneal erosion	1	TGFBI CL E G H	7045	11771	OMIM:121820	Corneal dystrophy, epithelial basement membrane		58
HP:0011495	HP:0200020	Corneal erosion	1	TGFBI CL E G H	7045	11771	OMIM:122200	Corneal dystrophy, lattice type I		58
HP:0011495	HP:0200020	Corneal erosion	1	TGFBI CL E G H	7045	11771	OMIM:608471	Corneal dystrophy, lattice type IIIA	.	58
HP:0011495	HP:0200020	Corneal erosion	1	TGFBI CL E G H	7045	11771	OMIM:608470	Corneal dystrophy, Reis-Bucklers type		58
HP:0011495	HP:0200020	Corneal erosion	1	TGFBI CL E G H	7045	11771	ORPHA:98962	Granular corneal dystrophy type I		58
HP:0011495	HP:0200020	Corneal erosion	1	TGFBI CL E G H	7045	11771	ORPHA:98963	Granular corneal dystrophy type II		58
HP:0011495	HP:0200020	Corneal erosion	1	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I		58
HP:0011495	HP:0200020	Corneal erosion	1	TGFBI CL E G H	7045	11771	ORPHA:98960	Thiel-Behnke corneal dystrophy		58
HP:0011495	HP:0000491	Keratitis	1	TGM1 CL E G H	7051	11777	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent	98
HP:0011495	HP:0200020	Corneal erosion	1	TGM1 CL E G H	7051	11777	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent	98
HP:0011495	HP:0000491	Keratitis	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease		3
HP:0011495	HP:0200020	Corneal erosion	1	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040282 - Frequent	140
HP:0011495	HP:0000491	Keratitis	1	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040282 - Frequent	140
HP:0011495	HP:0200020	Corneal erosion	1	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040283 - Occasional	7
HP:0011495	HP:0000491	Keratitis	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0011495	HP:0012804	Corneal ulceration	1	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040283 - Occasional	31
HP:0011495	HP:0000491	Keratitis	1	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria		31
HP:0011495	HP:0012804	Corneal ulceration	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional	41
HP:0011495	HP:0000491	Keratitis	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria		41
HP:0011495	HP:0000491	Keratitis	1	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	65
HP:0011495	HP:0000491	Keratitis	1	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	6
HP:0011495	HP:0200020	Corneal erosion	1	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia		177
HP:0011495	HP:0000491	Keratitis	1	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	34
HP:0011495	HP:0000491	Keratitis	1	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A	.	34
HP:0011495	HP:0000491	Keratitis	1	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	86
HP:0011495	HP:0000491	Keratitis	1	XPC CL E G H	7508	12816	OMIM:278720	Xeroderma pigmentosum, complementation group C	.	86
HP:0011495	HP:0000491	Keratitis	1	ZEB1 CL E G H	6935	11642	OMIM:613270	Corneal dystrophy, fuchs endothelial, 6		8
HP:0011495	HP:0012804	Corneal ulceration	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040284 - Very rare	83
HP:0011495	HP:0200020	Corneal erosion	1	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome	HP:0040283 - Occasional	397
HP:0011495	HP:0000584	Punctate corneal epithelial erosions	2	CL E G H
HP:0011495	HP:0001096	Keratoconjunctivitis	2	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0011495	HP:0001096	Keratoconjunctivitis	2	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0011495	HP:0001096	Keratoconjunctivitis	2	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0011495	HP:0001096	Keratoconjunctivitis	2	C4A CL E G H	720	1323	ORPHA:117	Behçet disease		1
HP:0011495	HP:0001096	Keratoconjunctivitis	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0011495	HP:0001096	Keratoconjunctivitis	2	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0011495	HP:0000495	Recurrent corneal erosions	2	CHST6 CL E G H	4166	6938	ORPHA:98969	Macular corneal dystrophy	HP:0040282 - Frequent	129
HP:0011495	HP:0000495	Recurrent corneal erosions	2	CHST6 CL E G H	4166	6938	OMIM:217800	Macular dystrophy, corneal, 1	.	129
HP:0011495	HP:0000495	Recurrent corneal erosions	2	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy	HP:0040281 - Very frequent	129
HP:0011495	HP:0001096	Keratoconjunctivitis	2	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy		129
HP:0011495	HP:0000495	Recurrent corneal erosions	2	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.	178
HP:0011495	HP:0000495	Recurrent corneal erosions	2	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III	.	133
HP:0011495	HP:0011859	Punctate keratitis	2	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy	HP:0040284 - Very rare	170
HP:0011495	HP:0001096	Keratoconjunctivitis	2	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease		1
HP:0011495	HP:0001096	Keratoconjunctivitis	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0011495	HP:0001096	Keratoconjunctivitis	2	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive		106
HP:0011495	HP:0001096	Keratoconjunctivitis	2	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D		106
HP:0011495	HP:0001096	Keratoconjunctivitis	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0011495	HP:0001096	Keratoconjunctivitis	2	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0011495	HP:0001096	Keratoconjunctivitis	2	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0011495	HP:0001096	Keratoconjunctivitis	2	FAS CL E G H	355	11920	ORPHA:117	Behçet disease		59
HP:0011495	HP:0001096	Keratoconjunctivitis	2	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0011495	HP:0000495	Recurrent corneal erosions	2	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	17
HP:0011495	HP:0000495	Recurrent corneal erosions	2	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0011495	HP:0001096	Keratoconjunctivitis	2	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	17
HP:0011495	HP:0001096	Keratoconjunctivitis	2	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	175
HP:0011495	HP:0000495	Recurrent corneal erosions	2	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0011495	HP:0000495	Recurrent corneal erosions	2	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	175
HP:0011495	HP:0000495	Recurrent corneal erosions	2	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	145
HP:0011495	HP:0001096	Keratoconjunctivitis	2	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	145
HP:0011495	HP:0000495	Recurrent corneal erosions	2	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0011495	HP:0000495	Recurrent corneal erosions	2	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome	.	20
HP:0011495	HP:0001096	Keratoconjunctivitis	2	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040284 - Very rare	29
HP:0011495	HP:0011859	Punctate keratitis	2	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness	.	199
HP:0011495	HP:0001096	Keratoconjunctivitis	2	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant		199
HP:0011495	HP:0000495	Recurrent corneal erosions	2	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant	.	199
HP:0011495	HP:0001096	Keratoconjunctivitis	2	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0011495	HP:0011859	Punctate keratitis	2	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0011495	HP:0011859	Punctate keratitis	2	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0011495	HP:0001096	Keratoconjunctivitis	2	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0011495	HP:0001096	Keratoconjunctivitis	2	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis		53
HP:0011495	HP:0001096	Keratoconjunctivitis	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0011495	HP:0001096	Keratoconjunctivitis	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0011495	HP:0001096	Keratoconjunctivitis	2	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease		4
HP:0011495	HP:0001096	Keratoconjunctivitis	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0011495	HP:0001096	Keratoconjunctivitis	2	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency	HP:0040281 - Very frequent	148
HP:0011495	HP:0001096	Keratoconjunctivitis	2	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0011495	HP:0001096	Keratoconjunctivitis	2	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease		60
HP:0011495	HP:0001096	Keratoconjunctivitis	2	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease		2
HP:0011495	HP:0001096	Keratoconjunctivitis	2	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0011495	HP:0001096	Keratoconjunctivitis	2	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0011495	HP:0001096	Keratoconjunctivitis	2	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease		1
HP:0011495	HP:0001096	Keratoconjunctivitis	2	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0011495	HP:0000495	Recurrent corneal erosions	2	KRT3 CL E G H	3850	6440	OMIM:618767	CORNEAL DYSTROPHY, MEESMANN, 2; MECD2		3
HP:0011495	HP:0001096	Keratoconjunctivitis	2	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome		70
HP:0011495	HP:0001096	Keratoconjunctivitis	2	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0011495	HP:0000495	Recurrent corneal erosions	2	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.	22
HP:0011495	HP:0001096	Keratoconjunctivitis	2	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease		281
HP:0011495	HP:0001096	Keratoconjunctivitis	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0011495	HP:0001096	Keratoconjunctivitis	2	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive		9
HP:0011495	HP:0000495	Recurrent corneal erosions	2	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.	56
HP:0011495	HP:0001096	Keratoconjunctivitis	2	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia		81
HP:0011495	HP:0011859	Punctate keratitis	2	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0011495	HP:0001096	Keratoconjunctivitis	2	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0011495	HP:0001096	Keratoconjunctivitis	2	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS		187
HP:0011495	HP:0000495	Recurrent corneal erosions	2	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis	.	97
HP:0011495	HP:0011859	Punctate keratitis	2	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy	HP:0040284 - Very rare
HP:0011495	HP:0011859	Punctate keratitis	2	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy	.	759
HP:0011495	HP:0001096	Keratoconjunctivitis	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0011495	HP:0001096	Keratoconjunctivitis	2	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome		5
HP:0011495	HP:0001096	Keratoconjunctivitis	2	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary		318
HP:0011495	HP:0001096	Keratoconjunctivitis	2	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2		1
HP:0011495	HP:0001096	Keratoconjunctivitis	2	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	.	1
HP:0011495	HP:0001096	Keratoconjunctivitis	2	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease		2
HP:0011495	HP:0001096	Keratoconjunctivitis	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0011495	HP:0007812	Herpetiform corneal ulceration	2	TAT CL E G H	6898	11573	OMIM:276600	Tyrosine transaminase deficiency	.	43
HP:0011495	HP:0007755	Juvenile epithelial corneal dystrophy	2	TGFBI CL E G H	7045	11771	OMIM:602082	Corneal dystrophy of bowman layer, type II	.	58
HP:0011495	HP:0000495	Recurrent corneal erosions	2	TGFBI CL E G H	7045	11771	OMIM:121820	Corneal dystrophy, epithelial basement membrane	.	58
HP:0011495	HP:0007690	Map-dot-fingerprint corneal dystrophy	2	TGFBI CL E G H	7045	11771	OMIM:121820	Corneal dystrophy, epithelial basement membrane	.	58
HP:0011495	HP:0000495	Recurrent corneal erosions	2	TGFBI CL E G H	7045	11771	OMIM:122200	Corneal dystrophy, lattice type I	.	58
HP:0011495	HP:0000495	Recurrent corneal erosions	2	TGFBI CL E G H	7045	11771	ORPHA:98962	Granular corneal dystrophy type I		58
HP:0011495	HP:0000495	Recurrent corneal erosions	2	TGFBI CL E G H	7045	11771	ORPHA:98963	Granular corneal dystrophy type II		58
HP:0011495	HP:0000495	Recurrent corneal erosions	2	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I	HP:0040282 - Frequent	58
HP:0011495	HP:0000495	Recurrent corneal erosions	2	TGFBI CL E G H	7045	11771	ORPHA:98960	Thiel-Behnke corneal dystrophy	HP:0040282 - Frequent	58
HP:0011495	HP:0001096	Keratoconjunctivitis	2	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease		3
HP:0011495	HP:0001096	Keratoconjunctivitis	2	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0011495	HP:0001096	Keratoconjunctivitis	2	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040284 - Very rare	31
HP:0011495	HP:0001096	Keratoconjunctivitis	2	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040284 - Very rare	41
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	1
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy	HP:0040283 - Occasional	129
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	HP:0040283 - Occasional	106
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D	HP:0040283 - Occasional	106
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040284 - Very rare	199
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040284 - Very rare	55
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional	59
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent	17
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent	175
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent	145
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant	.	199
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040281 - Very frequent	53
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional	4
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	2
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	.	25
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional	60
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome	HP:0040282 - Frequent	70
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional	281
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive	HP:0040283 - Occasional	9
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040284 - Very rare	81
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS		187
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome	.	5
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary	.	318
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2		1
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional	3
HP:0011495	HP:0001097	Keratoconjunctivitis sicca	3	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional