NLRP1, NLR family pyrin domain containing 1, 22861

N. diseases: 200; N. variants: 13
Disease: PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3808876
Disease: PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING
PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING 		0.710 GeneticVariation disease UNIPROT Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation. 27662089 2016
CUI: C3808876
Disease: PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING
PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING 		0.710 GeneticVariation disease BEFREE Here, we report that germline mutations in the inflammasome sensor NLRP1 cause two overlapping skin disorders: multiple self-healing palmoplantar carcinoma (MSPC) and familial keratosis lichenoides chronica (FKLC). 27662089 2016
CUI: C3808876
Disease: PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING
PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING 		0.710 GeneticVariation disease UNIPROT Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis. 23349227 2013
CUI: C3808876
Disease: PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING
PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING 		0.710 GermlineCausalMutation disease ORPHANET Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis. 23349227 2013
CUI: C3808876
Disease: PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING
PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING 		0.710 Biomarker disease CTD_human
CUI: C3808876
Disease: PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING
PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING 		0.710 CausalMutation disease CLINVAR