Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Albinism, Oculocutaneous
CUI: C0078918
Disease: Albinism, Oculocutaneous
0.700 GeneticVariation CLINVAR Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population. 28266639 2017
Albinism, Oculocutaneous
CUI: C0078918
Disease: Albinism, Oculocutaneous
0.700 GeneticVariation CLINVAR Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W. 28451379 2017
Albinism, Oculocutaneous
CUI: C0078918
Disease: Albinism, Oculocutaneous
0.700 GeneticVariation CLINVAR Delineating the genetic heterogeneity of OCA in Hungarian patients. 28629449 2017