ADAM19, ADAM metallopeptidase domain 19, 8728

N. diseases: 45; N. variants: 27
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199422216
rs199422216
Entrez Id: 8728;348938
Gene Symbol: ADAM19;NIPAL4
ADAM19;NIPAL4
CUI: C2677065
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		T 0.700 CausalMutation CLINVAR Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis. 15317751 2004