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: rs1561831582
rs1561831582
Entrez Id: 8728;348938
Gene Symbol: ADAM19;NIPAL4
ADAM19;NIPAL4
CUI: C2677065
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		A 0.700 CausalMutation CLINVAR Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis. 17557927 2007