RB1, RB transcriptional corepressor 1, 5925

N. diseases: 339; N. variants: 239
Disease: HYPOTRICHOSIS 8 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3279470
Disease: HYPOTRICHOSIS 8
HYPOTRICHOSIS 8 		0.100 GeneticVariation disease CLINVAR In silico analysis of missense mutations in LPAR6 reveals abnormal phospholipid signaling pathway leading to hypotrichosis. 25119526 2014
CUI: C3279470
Disease: HYPOTRICHOSIS 8
HYPOTRICHOSIS 8 		0.100 GeneticVariation disease CLINVAR Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3). 18461368 2008
CUI: C3279470
Disease: HYPOTRICHOSIS 8
HYPOTRICHOSIS 8 		0.100 CausalMutation disease CLINVAR