Condition: Albinism


rs62635045 in GPR143;LOC105373126 gene and Albinism PMID 8634705 1995 Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism.

rs28940876 in TYR;LOC107984363 gene and Albinism PMID 1970634 1990 A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism.

PMID 13680365 2003 Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype.

rs387906560 in TYRP1;LURAP1L-AS1 gene and Albinism PMID 8651291 1996 "Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as ""OCA3""."