Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4914
Gene Symbol: NTRK1
NTRK1
0.350 GeneticVariation disease BEFREE Novel 9 amino acid in-frame deletion in the NTRK1 tyrosine kinase domain in a patient with congenital insensitivity to pain with anhydrosis. 28940190 2017
Entrez Id: 4914
Gene Symbol: NTRK1
NTRK1
0.350 GeneticVariation disease BEFREE Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1-mutation due to uniparental disomy. 27184211 2016
Entrez Id: 4914
Gene Symbol: NTRK1
NTRK1
0.350 GeneticVariation disease BEFREE This is the youngest reported patient in Taiwan and first reported with congenital insensitivity to pain with mutation of NTRK1 gene inherited from the parents. 20647579 2010
Entrez Id: 4914
Gene Symbol: NTRK1
NTRK1
0.350 GeneticVariation disease BEFREE The phenotypes associated with mutations in NTRK1 and WNK1/HSN2 typically consisted of congenital insensitivity to pain and anhidrosis, and early-onset ulcero-mutilating sensory neuropathy, respectively. 19651702 2009
Entrez Id: 4914
Gene Symbol: NTRK1
NTRK1
0.350 GeneticVariation disease BEFREE Mutations in the TrkA gene cause the syndrome of congenital insensitivity to pain with anhydrosis (CIPA). 16279365 2005
Entrez Id: 4914
Gene Symbol: NTRK1
NTRK1
0.350 GeneticVariation disease ORPHANET A novel TRK A (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V. 11310631 2001