Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100018	HP:0100018	Nuclear cataract	0	BFSP1 CL E G H	631	1040	OMIM:611391	Cataract 33, multiple types	.		15
HP:0100018	HP:0100018	Nuclear cataract	0	CFAP410 CL E G H	755	1260	OMIM:617547	Retinal dystrophy with or without macular staphyloma	.
HP:0100018	HP:0100018	Nuclear cataract	0	CHMP4B CL E G H	128866	16171	OMIM:605387	Cataract 31, multiple types	.		4
HP:0100018	HP:0100018	Nuclear cataract	0	CRYBA1 CL E G H	1411	2394	OMIM:600881	Cataract, congenital zonular, with sutural opacities			9
HP:0100018	HP:0100018	Nuclear cataract	0	CRYBB1 CL E G H	1414	2397	OMIM:611544	Cataract 17, multiple types	.	HP:0003577 - Congenital onset	18
HP:0100018	HP:0100018	Nuclear cataract	0	CRYBB2 CL E G H	1415	2398	OMIM:601547	Cataract 3, multiple types			13
HP:0100018	HP:0100018	Nuclear cataract	0	CRYBB3 CL E G H	1417	2400	OMIM:609741	Cataract 22, multiple types	.	HP:0003577 - Congenital onset	22
HP:0100018	HP:0100018	Nuclear cataract	0	CRYGC CL E G H	1420	2410	OMIM:604307	Cataract 2, multiple types	.		11
HP:0100018	HP:0100018	Nuclear cataract	0	FTL CL E G H	2512	3999	OMIM:600886	Hyperferritinemia with or without cataract	.		33
HP:0100018	HP:0100018	Nuclear cataract	0	FYCO1 CL E G H	79443	14673	OMIM:610019	Cataract, autosomal recessive congenital 2			140
HP:0100018	HP:0100018	Nuclear cataract	0	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency	HP:0040282 - Frequent		23
HP:0100018	HP:0100018	Nuclear cataract	0	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0100018	HP:0100018	Nuclear cataract	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0100018	HP:0100018	Nuclear cataract	0	GJA8 CL E G H	2703	4281	OMIM:116200	Cataract 1, multiple types	.		34
HP:0100018	HP:0100018	Nuclear cataract	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0100018	HP:0100018	Nuclear cataract	0	HSF4 CL E G H	3299	5227	OMIM:116800	Cataract, lamellar	.		38
HP:0100018	HP:0100018	Nuclear cataract	0	IMPG2 CL E G H	50939	18362	OMIM:613581	RETINITIS PIGMENTOSA 56; RP56			120
HP:0100018	HP:0100018	Nuclear cataract	0	MIP CL E G H	4284	7103	OMIM:615274	Cataract 15, multiple types	.		40
HP:0100018	HP:0100018	Nuclear cataract	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0100018	HP:0100018	Nuclear cataract	0	NHS CL E G H	4810	7820	OMIM:302200	Cataract, congenital total, with posterior sutural opacities in heterozygotes	.	HP:0003577 - Congenital onset	88
HP:0100018	HP:0100018	Nuclear cataract	0	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0100018	HP:0100018	Nuclear cataract	0	VIM CL E G H	7431	12692	OMIM:116300	Cataract 30, multiple types			3
HP:0100018	HP:0100018	Nuclear cataract	0	WFS1 CL E G H	7466	12762	OMIM:116400	Cataract, nuclear total	.		389
HP:0100018	HP:0010699	Triangular nuclear cataract	1	CL E G H
HP:0100018	HP:0010925	Nuclear punctate cataract	1	CRYBB2 CL E G H	1415	2398	OMIM:601547	Cataract 3, multiple types			13
HP:0100018	HP:0010925	Nuclear punctate cataract	1	CRYGC CL E G H	1420	2410	OMIM:604307	Cataract 2, multiple types			11
HP:0100018	HP:0010926	Aculeiform cataract	1	CRYGC CL E G H	1420	2410	OMIM:604307	Cataract 2, multiple types			11
HP:0100018	HP:0010925	Nuclear punctate cataract	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0100018	HP:0010925	Nuclear punctate cataract	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0100018	HP:0007657	Diffuse nuclear cataract	1	VIM CL E G H	7431	12692	OMIM:116300	Cataract 30, multiple types	.		3
HP:0100018	HP:0010698	Nuclear pulverulent cataract	2	CRYBB2 CL E G H	1415	2398	OMIM:601547	Cataract 3, multiple types	.		13
HP:0100018	HP:0010698	Nuclear pulverulent cataract	2	CRYGC CL E G H	1420	2410	OMIM:604307	Cataract 2, multiple types			11
HP:0100018	HP:0010698	Nuclear pulverulent cataract	2	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0100018	HP:0010698	Nuclear pulverulent cataract	2	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34