ADAR, adenosine deaminase RNA specific, 103

N. diseases: 256; N. variants: 32
Disease: Symmetrical dyschromatosis of extremities ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17843865
rs17843865
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C0406775
Disease:
Symmetrical dyschromatosis of extremities 		0.010 GeneticVariation BEFREE Two novel DSRAD mutations, p.G1047D and p.Y587C, were found in Chinese patients with DSH and our data add new variants to the knowledge of DSRAD mutations in DSH. 24446047 2015