Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	HGMD variants	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0001131	HP:0001131	Corneal dystrophy	0	AGBL1 CL E G H	123624	615523	Corneal dystrophy, Fuchs endothelial, 8	615523	C3809798	OMIM	1	2	44	26504	615496
HP:0001131	HP:0001131	Corneal dystrophy	0	CHST6 CL E G H	4166	217800	Macular corneal dystrophy Type I	217800	C1636149	OMIM	1	178	251	6938	605294
HP:0001131	HP:0001131	Corneal dystrophy	0	COL8A2 CL E G H	1296	136800	Corneal dystrophy, Fuchs endothelial 1	136800	C1850959	OMIM	1	8	18	2216	120252
HP:0001131	HP:0001131	Corneal dystrophy	0	COL8A2 CL E G H	1296	609140	Corneal dystrophy, posterior polymorphous, 2	609140	C1852795	OMIM	1	8	18	2216	120252
HP:0001131	HP:0001131	Corneal dystrophy	0	EXOSC2 CL E G H	23404	617763	SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES	617763	C4540367	OMIM	1	2	59	17097	602238
HP:0001131	HP:0001131	Corneal dystrophy	0	GLA CL E G H	2717	301500	Fabry disease	301500	C0002986	OMIM	1	966	728	4296	300644
HP:0001131	HP:0001131	Corneal dystrophy	0	GLA CL E G H	2717	324	Slti Salem syndrome			ORPHA	1	966	728	4296	300644
HP:0001131	HP:0001131	Corneal dystrophy	0	KRT12 CL E G H	3859	122100	Meesman's corneal dystrophy	122100	C0339277	OMIM	1	25	35	6414	601687
HP:0001131	HP:0001131	Corneal dystrophy	0	KRT3 CL E G H	3850	122100	Meesman's corneal dystrophy	122100	C0339277	OMIM	1	4	26	6440	148043
HP:0001131	HP:0001131	Corneal dystrophy	0	MBTPS2 CL E G H	51360	308800	Keratosis pilaris decalvans	308800	C0343057	OMIM	1	26	207	15455	300294
HP:0001131	HP:0001131	Corneal dystrophy	0	PRDM5 CL E G H	11107	90354				ORPHA	1	13	131	9349	614161
HP:0001131	HP:0001131	Corneal dystrophy	0	SLC4A11 CL E G H	83959	1490	Congenital ichtyosiform erythroderma			ORPHA	1	95	250	16438	610206
HP:0001131	HP:0001131	Corneal dystrophy	0	SLC4A11 CL E G H	83959	217400	Corneal dystrophy and perceptive deafness	217400	C1857572	OMIM	1	95	250	16438	610206
HP:0001131	HP:0001131	Corneal dystrophy	0	SLC4A11 CL E G H	83959	613268	Corneal dystrophy, Fuchs endothelial, 4	613268	C2750450	OMIM	1	95	250	16438	610206
HP:0001131	HP:0001131	Corneal dystrophy	0	TACSTD2 CL E G H	4070	204870	Lattice corneal dystrophy Type III	204870	C0339273	OMIM	1	33	70	11530	137290
HP:0001131	HP:0001131	Corneal dystrophy	0	TGFBI CL E G H	7045	121820	Corneal epithelial dystrophy	121820	C0521723	OMIM	1	70	119	11771	601692
HP:0001131	HP:0001131	Corneal dystrophy	0	TGFBI CL E G H	7045	608470	Reis-Bucklers' corneal dystrophy	608470	C0339278	OMIM	1	70	119	11771	601692
HP:0001131	HP:0001131	Corneal dystrophy	0	TGFBI CL E G H	7045	602082	Thiel-Behnke corneal dystrophy	602082	C1562894	OMIM	1	70	119	11771	601692
HP:0001131	HP:0001131	Corneal dystrophy	0	UBIAD1 CL E G H	29914	121800	Schnyder crystalline corneal dystrophy	121800	C0271287	OMIM	1	30	144	30791	611632
HP:0001131	HP:0001131	Corneal dystrophy	0	ZEB1 CL E G H	6935	613270	Corneal dystrophy, Fuchs endothelial, 6	613270	C2750448	OMIM	1	52	41	11642	189909
HP:0001131	HP:0001131	Corneal dystrophy	0	ZEB1 CL E G H	6935	609141	Posterior polymorphous corneal dystrophy 3	609141	C1836724	OMIM	1	52	41	11642	189909
HP:0001131	HP:0001131	Corneal dystrophy	0	ZNF469 CL E G H	84627	90354				ORPHA	1	69	641	23216	612078
HP:0001131	HP:0001131	Corneal dystrophy	1	AGBL1 CL E G H	123624	615523	Corneal dystrophy, Fuchs endothelial, 8	615523	C3809798	OMIM	1	2	44	26504	615496
HP:0001131	HP:0001131	Corneal dystrophy	1	CHST6 CL E G H	4166	217800	Macular corneal dystrophy Type I	217800	C1636149	OMIM	1	178	251	6938	605294
HP:0001131	HP:0001131	Corneal dystrophy	1	COL8A2 CL E G H	1296	136800	Corneal dystrophy, Fuchs endothelial 1	136800	C1850959	OMIM	1	8	18	2216	120252
HP:0001131	HP:0001131	Corneal dystrophy	1	COL8A2 CL E G H	1296	609140	Corneal dystrophy, posterior polymorphous, 2	609140	C1852795	OMIM	1	8	18	2216	120252
HP:0001131	HP:0001131	Corneal dystrophy	1	EXOSC2 CL E G H	23404	617763	SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES	617763	C4540367	OMIM	1	2	59	17097	602238
HP:0001131	HP:0001131	Corneal dystrophy	1	GLA CL E G H	2717	301500	Fabry disease	301500	C0002986	OMIM	1	966	728	4296	300644
HP:0001131	HP:0001131	Corneal dystrophy	1	GLA CL E G H	2717	324	Slti Salem syndrome			ORPHA	1	966	728	4296	300644
HP:0001131	HP:0001131	Corneal dystrophy	1	KRT12 CL E G H	3859	122100	Meesman's corneal dystrophy	122100	C0339277	OMIM	1	25	35	6414	601687
HP:0001131	HP:0001131	Corneal dystrophy	1	KRT3 CL E G H	3850	122100	Meesman's corneal dystrophy	122100	C0339277	OMIM	1	4	26	6440	148043
HP:0001131	HP:0001131	Corneal dystrophy	1	MBTPS2 CL E G H	51360	308800	Keratosis pilaris decalvans	308800	C0343057	OMIM	1	26	207	15455	300294
HP:0001131	HP:0001131	Corneal dystrophy	1	PRDM5 CL E G H	11107	90354				ORPHA	1	13	131	9349	614161
HP:0001131	HP:0001131	Corneal dystrophy	1	SLC4A11 CL E G H	83959	1490	Congenital ichtyosiform erythroderma			ORPHA	1	95	250	16438	610206
HP:0001131	HP:0001131	Corneal dystrophy	1	SLC4A11 CL E G H	83959	217400	Corneal dystrophy and perceptive deafness	217400	C1857572	OMIM	1	95	250	16438	610206
HP:0001131	HP:0001131	Corneal dystrophy	1	SLC4A11 CL E G H	83959	613268	Corneal dystrophy, Fuchs endothelial, 4	613268	C2750450	OMIM	1	95	250	16438	610206
HP:0001131	HP:0001131	Corneal dystrophy	1	TACSTD2 CL E G H	4070	204870	Lattice corneal dystrophy Type III	204870	C0339273	OMIM	1	33	70	11530	137290
HP:0001131	HP:0001131	Corneal dystrophy	1	TGFBI CL E G H	7045	121820	Corneal epithelial dystrophy	121820	C0521723	OMIM	1	70	119	11771	601692
HP:0001131	HP:0001131	Corneal dystrophy	1	TGFBI CL E G H	7045	608470	Reis-Bucklers' corneal dystrophy	608470	C0339278	OMIM	1	70	119	11771	601692
HP:0001131	HP:0001131	Corneal dystrophy	1	TGFBI CL E G H	7045	602082	Thiel-Behnke corneal dystrophy	602082	C1562894	OMIM	1	70	119	11771	601692
HP:0001131	HP:0001131	Corneal dystrophy	1	UBIAD1 CL E G H	29914	121800	Schnyder crystalline corneal dystrophy	121800	C0271287	OMIM	1	30	144	30791	611632
HP:0001131	HP:0001131	Corneal dystrophy	1	ZEB1 CL E G H	6935	613270	Corneal dystrophy, Fuchs endothelial, 6	613270	C2750448	OMIM	1	52	41	11642	189909
HP:0001131	HP:0001131	Corneal dystrophy	1	ZEB1 CL E G H	6935	609141	Posterior polymorphous corneal dystrophy 3	609141	C1836724	OMIM	1	52	41	11642	189909
HP:0001131	HP:0001131	Corneal dystrophy	1	ZNF469 CL E G H	84627	90354				ORPHA	1	69	641	23216	612078
HP:0001131	HP:0001131	Corneal dystrophy	2	AGBL1 CL E G H	123624	615523	Corneal dystrophy, Fuchs endothelial, 8	615523	C3809798	OMIM	1	2	44	26504	615496
HP:0001131	HP:0001131	Corneal dystrophy	2	CHST6 CL E G H	4166	217800	Macular corneal dystrophy Type I	217800	C1636149	OMIM	1	178	251	6938	605294
HP:0001131	HP:0001131	Corneal dystrophy	2	COL8A2 CL E G H	1296	136800	Corneal dystrophy, Fuchs endothelial 1	136800	C1850959	OMIM	1	8	18	2216	120252
HP:0001131	HP:0001131	Corneal dystrophy	2	COL8A2 CL E G H	1296	609140	Corneal dystrophy, posterior polymorphous, 2	609140	C1852795	OMIM	1	8	18	2216	120252
HP:0001131	HP:0001131	Corneal dystrophy	2	EXOSC2 CL E G H	23404	617763	SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES	617763	C4540367	OMIM	1	2	59	17097	602238
HP:0001131	HP:0001131	Corneal dystrophy	2	GLA CL E G H	2717	301500	Fabry disease	301500	C0002986	OMIM	1	966	728	4296	300644
HP:0001131	HP:0001131	Corneal dystrophy	2	GLA CL E G H	2717	324	Slti Salem syndrome			ORPHA	1	966	728	4296	300644
HP:0001131	HP:0001131	Corneal dystrophy	2	KRT12 CL E G H	3859	122100	Meesman's corneal dystrophy	122100	C0339277	OMIM	1	25	35	6414	601687
HP:0001131	HP:0001131	Corneal dystrophy	2	KRT3 CL E G H	3850	122100	Meesman's corneal dystrophy	122100	C0339277	OMIM	1	4	26	6440	148043
HP:0001131	HP:0001131	Corneal dystrophy	2	MBTPS2 CL E G H	51360	308800	Keratosis pilaris decalvans	308800	C0343057	OMIM	1	26	207	15455	300294
HP:0001131	HP:0001131	Corneal dystrophy	2	PRDM5 CL E G H	11107	90354				ORPHA	1	13	131	9349	614161
HP:0001131	HP:0001131	Corneal dystrophy	2	SLC4A11 CL E G H	83959	1490	Congenital ichtyosiform erythroderma			ORPHA	1	95	250	16438	610206
HP:0001131	HP:0001131	Corneal dystrophy	2	SLC4A11 CL E G H	83959	217400	Corneal dystrophy and perceptive deafness	217400	C1857572	OMIM	1	95	250	16438	610206
HP:0001131	HP:0001131	Corneal dystrophy	2	SLC4A11 CL E G H	83959	613268	Corneal dystrophy, Fuchs endothelial, 4	613268	C2750450	OMIM	1	95	250	16438	610206
HP:0001131	HP:0001131	Corneal dystrophy	2	TACSTD2 CL E G H	4070	204870	Lattice corneal dystrophy Type III	204870	C0339273	OMIM	1	33	70	11530	137290
HP:0001131	HP:0001131	Corneal dystrophy	2	TGFBI CL E G H	7045	121820	Corneal epithelial dystrophy	121820	C0521723	OMIM	1	70	119	11771	601692
HP:0001131	HP:0001131	Corneal dystrophy	2	TGFBI CL E G H	7045	608470	Reis-Bucklers' corneal dystrophy	608470	C0339278	OMIM	1	70	119	11771	601692
HP:0001131	HP:0001131	Corneal dystrophy	2	TGFBI CL E G H	7045	602082	Thiel-Behnke corneal dystrophy	602082	C1562894	OMIM	1	70	119	11771	601692
HP:0001131	HP:0001131	Corneal dystrophy	2	UBIAD1 CL E G H	29914	121800	Schnyder crystalline corneal dystrophy	121800	C0271287	OMIM	1	30	144	30791	611632
HP:0001131	HP:0001131	Corneal dystrophy	2	ZEB1 CL E G H	6935	613270	Corneal dystrophy, Fuchs endothelial, 6	613270	C2750448	OMIM	1	52	41	11642	189909
HP:0001131	HP:0001131	Corneal dystrophy	2	ZEB1 CL E G H	6935	609141	Posterior polymorphous corneal dystrophy 3	609141	C1836724	OMIM	1	52	41	11642	189909
HP:0001131	HP:0001131	Corneal dystrophy	2	ZNF469 CL E G H	84627	90354				ORPHA	1	69	641	23216	612078
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001131	HP:0001131	Corneal dystrophy	0	AGK CL E G H	55750	1369				ORPHA	0	27	186	21869	610345
HP:0001131	HP:0001131	Corneal dystrophy	0	COL1A1 CL E G H	1277	287				ORPHA	0	967	1105	2197	120150
HP:0001131	HP:0001131	Corneal dystrophy	0	COL5A1 CL E G H	1289	287				ORPHA	0	159	1630	2209	120215
HP:0001131	HP:0001131	Corneal dystrophy	0	COL5A2 CL E G H	1290	287				ORPHA	0	39	793	2210	120190
HP:0001131	HP:0001131	Corneal dystrophy	0	CRYAA CL E G H	1409	1377				ORPHA	0	27	129	2388	123580
HP:0001131	HP:0001131	Corneal dystrophy	0	CRYBA4 CL E G H	1413	1377				ORPHA	0	10	84	2396	123631
HP:0001131	HP:0001131	Corneal dystrophy	0	CRYBB1 CL E G H	1414	1377				ORPHA	0	20	65	2397	600929
HP:0001131	HP:0001131	Corneal dystrophy	0	CRYBB2 CL E G H	1415	1377				ORPHA	0	27	53	2398	123620
HP:0001131	HP:0001131	Corneal dystrophy	0	CRYGC CL E G H	1420	1377				ORPHA	0	28	50	2410	123680
HP:0001131	HP:0001131	Corneal dystrophy	0	CRYGD CL E G H	1421	1377				ORPHA	0	27	73	2411	123690
HP:0001131	HP:0001131	Corneal dystrophy	0	GJA8 CL E G H	2703	1377				ORPHA	0	63	347	4281	600897
HP:0001131	HP:0001131	Corneal dystrophy	0	GNAQ CL E G H	2776	3205	LBWD syndrome			ORPHA	0	6	58	4390	600998
HP:0001131	HP:0001131	Corneal dystrophy	0	GNPTAB CL E G H	79158	576				ORPHA	0	188	462	29670	607840
HP:0001131	HP:0001131	Corneal dystrophy	0	KRT16 CL E G H	3868	2309	Fetal parainfluenza virus type 3 syndrome			ORPHA	0	31	59	6423	148067
HP:0001131	HP:0001131	Corneal dystrophy	0	KRT17 CL E G H	3872	2309	Fetal parainfluenza virus type 3 syndrome			ORPHA	0	29	50	6427	148069
HP:0001131	HP:0001131	Corneal dystrophy	0	KRT6A CL E G H	3853	2309	Fetal parainfluenza virus type 3 syndrome			ORPHA	0	47	67	6443	148041
HP:0001131	HP:0001131	Corneal dystrophy	0	KRT6B CL E G H	3854	2309	Fetal parainfluenza virus type 3 syndrome			ORPHA	0	5	30	6444	148042
HP:0001131	HP:0001131	Corneal dystrophy	0	MAF CL E G H	4094	1377				ORPHA	0	22	172	6776	177075
HP:0001131	HP:0001131	Corneal dystrophy	0	OPN1LW CL E G H	5956	16				ORPHA	0	63	250	9936	300822
HP:0001131	HP:0001131	Corneal dystrophy	0	OPN1MW CL E G H	2652	16				ORPHA	0	21	240	4206	300821
HP:0001131	HP:0001131	Corneal dystrophy	0	PLOD1 CL E G H	5351	1900				ORPHA	0	42	440	9081	153454
HP:0001131	HP:0001131	Corneal dystrophy	0	SLC25A4 CL E G H	291	1369				ORPHA	0	17	234	10990	103220
HP:0001131	HP:0001131	Corneal dystrophy	1	AGK CL E G H	55750	1369				ORPHA	0	27	186	21869	610345
HP:0001131	HP:0001131	Corneal dystrophy	1	COL1A1 CL E G H	1277	287				ORPHA	0	967	1105	2197	120150
HP:0001131	HP:0001131	Corneal dystrophy	1	COL5A1 CL E G H	1289	287				ORPHA	0	159	1630	2209	120215
HP:0001131	HP:0001131	Corneal dystrophy	1	COL5A2 CL E G H	1290	287				ORPHA	0	39	793	2210	120190
HP:0001131	HP:0001131	Corneal dystrophy	1	CRYAA CL E G H	1409	1377				ORPHA	0	27	129	2388	123580
HP:0001131	HP:0001131	Corneal dystrophy	1	CRYBA4 CL E G H	1413	1377				ORPHA	0	10	84	2396	123631
HP:0001131	HP:0001131	Corneal dystrophy	1	CRYBB1 CL E G H	1414	1377				ORPHA	0	20	65	2397	600929
HP:0001131	HP:0001131	Corneal dystrophy	1	CRYBB2 CL E G H	1415	1377				ORPHA	0	27	53	2398	123620
HP:0001131	HP:0001131	Corneal dystrophy	1	CRYGC CL E G H	1420	1377				ORPHA	0	28	50	2410	123680
HP:0001131	HP:0001131	Corneal dystrophy	1	CRYGD CL E G H	1421	1377				ORPHA	0	27	73	2411	123690
HP:0001131	HP:0001131	Corneal dystrophy	1	GJA8 CL E G H	2703	1377				ORPHA	0	63	347	4281	600897
HP:0001131	HP:0001131	Corneal dystrophy	1	GNAQ CL E G H	2776	3205	LBWD syndrome			ORPHA	0	6	58	4390	600998
HP:0001131	HP:0001131	Corneal dystrophy	1	GNPTAB CL E G H	79158	576				ORPHA	0	188	462	29670	607840
HP:0001131	HP:0001131	Corneal dystrophy	1	KRT16 CL E G H	3868	2309	Fetal parainfluenza virus type 3 syndrome			ORPHA	0	31	59	6423	148067
HP:0001131	HP:0001131	Corneal dystrophy	1	KRT17 CL E G H	3872	2309	Fetal parainfluenza virus type 3 syndrome			ORPHA	0	29	50	6427	148069
HP:0001131	HP:0001131	Corneal dystrophy	1	KRT6A CL E G H	3853	2309	Fetal parainfluenza virus type 3 syndrome			ORPHA	0	47	67	6443	148041
HP:0001131	HP:0001131	Corneal dystrophy	1	KRT6B CL E G H	3854	2309	Fetal parainfluenza virus type 3 syndrome			ORPHA	0	5	30	6444	148042
HP:0001131	HP:0001131	Corneal dystrophy	1	MAF CL E G H	4094	1377				ORPHA	0	22	172	6776	177075
HP:0001131	HP:0001131	Corneal dystrophy	1	OPN1LW CL E G H	5956	16				ORPHA	0	63	250	9936	300822
HP:0001131	HP:0001131	Corneal dystrophy	1	OPN1MW CL E G H	2652	16				ORPHA	0	21	240	4206	300821
HP:0001131	HP:0001131	Corneal dystrophy	1	PLOD1 CL E G H	5351	1900				ORPHA	0	42	440	9081	153454
HP:0001131	HP:0001131	Corneal dystrophy	1	SLC25A4 CL E G H	291	1369				ORPHA	0	17	234	10990	103220
HP:0001131	HP:0001131	Corneal dystrophy	2	AGK CL E G H	55750	1369				ORPHA	0	27	186	21869	610345
HP:0001131	HP:0001131	Corneal dystrophy	2	COL1A1 CL E G H	1277	287				ORPHA	0	967	1105	2197	120150
HP:0001131	HP:0001131	Corneal dystrophy	2	COL5A1 CL E G H	1289	287				ORPHA	0	159	1630	2209	120215
HP:0001131	HP:0001131	Corneal dystrophy	2	COL5A2 CL E G H	1290	287				ORPHA	0	39	793	2210	120190
HP:0001131	HP:0001131	Corneal dystrophy	2	CRYAA CL E G H	1409	1377				ORPHA	0	27	129	2388	123580
HP:0001131	HP:0001131	Corneal dystrophy	2	CRYBA4 CL E G H	1413	1377				ORPHA	0	10	84	2396	123631
HP:0001131	HP:0001131	Corneal dystrophy	2	CRYBB1 CL E G H	1414	1377				ORPHA	0	20	65	2397	600929
HP:0001131	HP:0001131	Corneal dystrophy	2	CRYBB2 CL E G H	1415	1377				ORPHA	0	27	53	2398	123620
HP:0001131	HP:0001131	Corneal dystrophy	2	CRYGC CL E G H	1420	1377				ORPHA	0	28	50	2410	123680
HP:0001131	HP:0001131	Corneal dystrophy	2	CRYGD CL E G H	1421	1377				ORPHA	0	27	73	2411	123690
HP:0001131	HP:0001131	Corneal dystrophy	2	GJA8 CL E G H	2703	1377				ORPHA	0	63	347	4281	600897
HP:0001131	HP:0001131	Corneal dystrophy	2	GNAQ CL E G H	2776	3205	LBWD syndrome			ORPHA	0	6	58	4390	600998
HP:0001131	HP:0001131	Corneal dystrophy	2	GNPTAB CL E G H	79158	576				ORPHA	0	188	462	29670	607840
HP:0001131	HP:0001131	Corneal dystrophy	2	KRT16 CL E G H	3868	2309	Fetal parainfluenza virus type 3 syndrome			ORPHA	0	31	59	6423	148067
HP:0001131	HP:0001131	Corneal dystrophy	2	KRT17 CL E G H	3872	2309	Fetal parainfluenza virus type 3 syndrome			ORPHA	0	29	50	6427	148069
HP:0001131	HP:0001131	Corneal dystrophy	2	KRT6A CL E G H	3853	2309	Fetal parainfluenza virus type 3 syndrome			ORPHA	0	47	67	6443	148041
HP:0001131	HP:0001131	Corneal dystrophy	2	KRT6B CL E G H	3854	2309	Fetal parainfluenza virus type 3 syndrome			ORPHA	0	5	30	6444	148042
HP:0001131	HP:0001131	Corneal dystrophy	2	MAF CL E G H	4094	1377				ORPHA	0	22	172	6776	177075
HP:0001131	HP:0001131	Corneal dystrophy	2	OPN1LW CL E G H	5956	16				ORPHA	0	63	250	9936	300822
HP:0001131	HP:0001131	Corneal dystrophy	2	OPN1MW CL E G H	2652	16				ORPHA	0	21	240	4206	300821
HP:0001131	HP:0001131	Corneal dystrophy	2	PLOD1 CL E G H	5351	1900				ORPHA	0	42	440	9081	153454
HP:0001131	HP:0001131	Corneal dystrophy	2	SLC25A4 CL E G H	291	1369				ORPHA	0	17	234	10990	103220