NLRP1, NLR family pyrin domain containing 1, 22861

N. diseases: 200; N. variants: 13
Disease: PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514692
rs397514692
Entrez Id: 22861
Gene Symbol: NLRP1
NLRP1
CUI: C3808876
Disease:
PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING 		0.800 GeneticVariation UNIPROT Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation. 27662089 2016
dbSNP: rs397514692
rs397514692
Entrez Id: 22861
Gene Symbol: NLRP1
NLRP1
CUI: C3808876
Disease:
PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING 		0.800 GeneticVariation UNIPROT Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis. 23349227 2013
dbSNP: rs397514692
rs397514692
Entrez Id: 22861
Gene Symbol: NLRP1
NLRP1
CUI: C3808876
Disease:
PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING 		G 0.800 CausalMutation CLINVAR