Disease: Oculocutaneous albinism type 6 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3695272
Disease: Oculocutaneous albinism type 6
Oculocutaneous albinism type 6 		0.410 Biomarker disease BEFREE Solute carrier family 24 member 5 (SLC24A5) is a gene that is associated with oculocutaneous albinism type 6 (OCA6) disorder and is involved in skin and hair pigmentation. 30204049 2019
CUI: C3695272
Disease: Oculocutaneous albinism type 6
Oculocutaneous albinism type 6 		0.410 GermlineCausalMutation disease ORPHANET Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism. 23364476 2013
CUI: C3695272
Disease: Oculocutaneous albinism type 6
Oculocutaneous albinism type 6 		0.410 CausalMutation disease CLINVAR