Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs369445146
rs369445146
Entrez Id: 285848
Gene Symbol: PNPLA1
PNPLA1
CUI: C3554355
Disease:
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 		A 0.700 GeneticVariation CLINVAR PNPLA1 defects in patients with autosomal recessive congenital ichthyosis and KO mice sustain PNPLA1 irreplaceable function in epidermal omega-O-acylceramide synthesis and skin permeability barrier. 28369476 2017