Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
OCULOCUTANEOUS ALBINISM TYPE 1	C0268494 MESH:C537728 MONDO:0018135	TYR	Causal	10675031 11284711 11781109 16743714 24879364 2511845 30472657 30996339 31199599 32411182 7813769 8921397 9242509	CTD ClinGen Disgenet
OCULOCUTANEOUS ALBINISM TYPE 1A	79431 C4551504 MONDO:0008745	TYR	Causal	20301345 2511845 8477259 3081286 1970634 30679655 28667292	CTD ClinVar Disgenet Orphanet
OCULOCUTANEOUS ALBINISM TYPE 1B	79434 C1847024 MESH:C537729 MONDO:0011749	TYR	Causal	20301345	CTD ClinVar Disgenet Orphanet
OCULOCUTANEOUS ALBINISM TYPE 1B	79434 C1847024 MESH:C537729 MONDO:0011749	ZDHHC15	Unknown	—	Disgenet
OCULOCUTANEOUS ALBINISM TYPE 2	C0268495 79432 MESH:C537730 MONDO:0008746	ATP5ME	Unknown	—	Disgenet
		MC1R	Unknown	12876664	CTD Disgenet Orphanet
		OCA2	Unknown	—	CTD ClinGen Disgenet GenCC Orphanet
		PDE6B	Unknown	—	Disgenet
OCULOCUTANEOUS ALBINISM TYPE 3	79433 MONDO:0008747	TYRP1	Causal	19533799 16704458 15996218 8651291 9345097	ClinVar GWAS catalog Orphanet
OCULOCUTANEOUS ALBINISM TYPE 4	79435 MONDO:0011683	SLC45A2	Causal	—	ClinVar GenCC Orphanet
OCULOCUTANEOUS ALBINISM TYPE 6	370097 MONDO:0018264	SLC24A5	Causal	23364476	ClinVar GenCC Orphanet
OCULOCUTANEOUS ALBINISM TYPE 7	352745 MONDO:0014070	LRMDA	Causal	23395477	ClinVar Orphanet
OCULOCUTANEOUS ALBINISM TYPE 7	352745 MONDO:0014070	WDR45	Causal	—	ClinVar
OCULOCUTANEOUS ALBINISM TYPE 8	597733 MONDO:0030899 C5436929	DCT	Causal	33100333 33959807	ClinVar GWAS catalog Orphanet
OCULOCUTANEOUS ALBINISM, TYPE IV	C1847836 MESH:C564696	MITF	Unknown	—	Disgenet
OCULOCUTANEOUS ALBINISM, TYPE IV	C1847836 MESH:C564696	SLC45A2	Unknown	—	CTD Disgenet
OCULOCUTANEOUS ALBINISM, TYPE VIII	619165	DCT	Unknown	—	HPO
TYROSINASE-POSITIVE OCULOCUTANEOUS ALBINISM		MC1R	Causal	—	ClinVar
TYROSINASE-POSITIVE OCULOCUTANEOUS ALBINISM		OCA2	Causal	—	ClinVar

Oculocutaneous albinism