Disease: HSAN Type IV ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs764171953
rs764171953
Entrez Id: 4914
Gene Symbol: NTRK1
NTRK1
CUI: C0020074
Disease:
HSAN Type IV 		A 0.700 GeneticVariation CLINVAR Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency. 11668614 2001