INT307659

Context Info Confidence 0.58 First Reported 2010 Last Reported 2010 Negated 0 Speculated 0 Reported most in Body Documents 1 Total Number 2 Disease Relevance 1.13 Pain Relevance 0.12

Gdap1 (Rattus norvegicus) Gdap1 - R468H (1)

Pain Link Frequency Relevance Heat Neuritis 2 58.04 Demyelination 4 6.56 Action potential 12 5.00 Pain 4 5.00 spinal stenosis 2 5.00 Paresthesia 2 5.00 cva 2 5.00

Disease Link Frequency Relevance Heat Neuropathic Pain 20 92.92 Parkinson's Disease 2 92.04 Tremor 6 60.20 Scoliosis 2 59.76 Optic Atrophy 2 58.64 Optic Neuritis 2 58.04 Ataxia 8 57.40 Charcot Marie Tooth Disease 12 50.00 Demyelinating Disease 4 6.56 Muscle Weakness 10 5.00

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

A patient with a severe CMT carried two mutations, the Arg468His in MFN2 and Gln95stop in ganglioside-induced differentiation-associated protein 1 (GDAP1)[22].

Positive_regulation (induced) of differentiation-associated protein 1 (R468H)

1) Confidence 0.58 Published 2010 Journal BMC Med Genet Section Body Doc Link PMC2859816 Disease Relevance 0.57 Pain Relevance 0.06

A patient with a severe CMT carried two mutations, the Arg468His in MFN2 and Gln95stop in ganglioside-induced differentiation-associated protein 1 (GDAP1)[22].

Positive_regulation (induced) of GDAP1

2) Confidence 0.58 Published 2010 Journal BMC Med Genet Section Body Doc Link PMC2859816 Disease Relevance 0.57 Pain Relevance 0.06

General Comments

This test has worked.