INT122927

Context Info Confidence 0.00 First Reported 2004 Last Reported 2004 Negated 0 Speculated 0 Reported most in Abstract Documents 1 Total Number 1 Disease Relevance 0.65 Pain Relevance 0.09

cell differentiation (Ntrk1) small molecule metabolic process (SPTLC1) endoplasmic reticulum (SPTLC1) biosynthetic process (SPTLC1) plasma membrane (Ntrk1) transferase activity, transferring acyl groups (SPTLC1)

Ntrk1 (Mus musculus) SPTLC1 (Homo sapiens)

Pain Link Frequency Relevance Heat Pain 1 93.80

Disease Link Frequency Relevance Heat Hereditary Sensory And Autonomic Neuropathies 3 100.00 Diabetic Nephropathy 2 98.24 Intellectual Impairment 1 95.16 Pain 1 93.80 Hypohidrosis 1 92.76 Disease 1 5.00

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

Genetic analysis of her TRKA gene, which is responsible for HSAN IV, revealed two novel missense mutations in the tyrosine kinase domain.

TRKA gene Positive_regulation (responsible) of HSAN associated with hereditary sensory and autonomic neuropathies

1) Confidence 0.00 Published 2004 Journal Neuropediatrics Section Abstract Doc Link 15534759 Disease Relevance 0.65 Pain Relevance 0.09

General Comments

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