Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 7299
Gene Symbol: TYR
TYR 		tyrosinase 0.473 0.808 5.0E-32
CUI: C0001916
Disease: Albinism
Albinism 		disease 0.400 None 0.921 2 11 1980 2019
Entrez Id: 7306
Gene Symbol: TYRP1
TYRP1 		tyrosinase related protein 1 0.507 0.846 6.6E-25
CUI: C0001916
Disease: Albinism
Albinism 		disease 0.150 None 1.000 1 2 1993 2014
Entrez Id: 4948
Gene Symbol: OCA2
OCA2 		OCA2 melanosomal transmembrane protein 0.539 0.808 2.9E-13
CUI: C0001916
Disease: Albinism
Albinism 		disease 0.150 None 1.000 0 3 2003 2016
Entrez Id: 4935
Gene Symbol: GPR143
GPR143 		G protein-coupled receptor 143 0.659 0.385 0.93
CUI: C0001916
Disease: Albinism
Albinism 		disease 0.120 None 1.000 1 2 1995 2014