RAB27A, RAB27A, member RAS oncogene family, 5873

N. diseases: 108; N. variants: 13
Disease: Albinism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001916
Disease: Albinism
Albinism 		0.020 GeneticVariation disease BEFREE We have learned of new gene defects causing immunodeficiency and of new phenotypes expanding the spectrum of conditions caused by genetic mutations such as a specific regulator of telomere elongation (RTEL1) mutation causing isolated natural killer cell deficiency and mutations in ras-associated RAB (RAB27) resulting in immunodeficiency without albinism. 27931534 2016
CUI: C0001916
Disease: Albinism
Albinism 		0.020 GeneticVariation disease BEFREE We identify patients with Griscelli syndrome type 2 with biallelic mutations in RAB27A in the absence of albinism. 25312756 2015