INT51444

Context Info Confidence 0.44 First Reported 1993 Last Reported 2007 Negated 0 Speculated 0 Reported most in Body Documents 2 Total Number 3 Disease Relevance 1.39 Pain Relevance 0.07

cell differentiation (PMP22) plasma membrane (PMP22)

Anatomy Link Frequency Tooth 1 PMP22 (Homo sapiens)

Pain Link Frequency Relevance Heat Neuritis 1 70.08 Pain 2 5.00

Disease Link Frequency Relevance Heat Syndrome 92 100.00 Peripheral Neuropathy 1 99.36 Charcot Marie Tooth Disease 10 96.28 Mouth Disease 5 95.72 Neuropathic Pain 6 94.80 Disease 4 84.76 Congenital Anomalies 14 84.44 Lissencephaly 4 82.04 Adhesions 2 75.00 Neuritis 1 70.08

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

Molecular genetic studies have established that mutations in the gene encoding the 22-kDa peripheral myelin protein (PMP-22) are responsible for hereditary peripheral neuropathies in the trembler mouse and in a subset of humans with Charcot-Marie-Tooth disease, type 1a.

Regulation (responsible) of PMP-22 in Tooth associated with charcot marie tooth disease, mouth disease and peripheral neuropathy

1) Confidence 0.44 Published 1993 Journal J. Neurochem. Section Abstract Doc Link 7693873 Disease Relevance 0.61 Pain Relevance 0.07

600 kb in size, whereas the duplication containing the SMS and CMT1A region was ?

Regulation (containing) of CMT1A associated with syndrome

2) Confidence 0.36 Published 2007 Journal Hum Genet Section Body Doc Link PMC1914245 Disease Relevance 0.51 Pain Relevance 0

One of the genes affected by the CCR in patient 2 is the dosage-sensitive PMP22 gene.

Regulation (sensitive) of PMP22

3) Confidence 0.25 Published 2007 Journal Hum Genet Section Body Doc Link PMC1914245 Disease Relevance 0.27 Pain Relevance 0

General Comments

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