INT77246

Context Info Confidence 0.10 First Reported 1998 Last Reported 2009 Negated 0 Speculated 0 Reported most in Abstract Documents 5 Total Number 5 Disease Relevance 4.24 Pain Relevance 1.13

cytoplasm (WNK1)

WNK1 (Homo sapiens)

Pain Link Frequency Relevance Heat Hsan 10 100.00 Osteoarthritis 1 97.64 Peripheral nervous system 1 93.04 abdominal pain 1 83.00 Pain 1 81.20 Peripheral nerve injury 1 73.24 peripheral neuropathy 1 57.60

Disease Link Frequency Relevance Heat Hereditary Sensory And Autonomic Neuropathies 16 100.00 Pressure And Volume Under Development 14 100.00 Aggression 1 99.52 Cognitive Disorder 2 98.52 Osteoarthritis 1 97.64 Infection 1 95.12 Fever 2 94.24 Neurodegenerative Disease 1 91.72 Diabetic Nephropathy 1 88.20 Abdominal Pain 1 83.00

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

We have also investigated NOR1 and several other characterized genes that localize to chromosome 9q22 for a pathogenic role in HSN-I.

Positive_regulation (role) of HSN-I

1) Confidence 0.10 Published 1998 Journal Genomics Section Abstract Doc Link 9722951 Disease Relevance 0.53 Pain Relevance 0.16

Four missense mutations (C133W, C133Y, V144D and G387A) in SPTLC1 were reported to cause HSAN I.

Positive_regulation (cause) of HSAN I associated with hereditary sensory and autonomic neuropathies

2) Confidence 0.10 Published 2009 Journal Neurogenetics Section Abstract Doc Link 19132419 Disease Relevance 0.67 Pain Relevance 0.21

Our results rule out a mutation in the translated region of the ninjurin gene as a cause of HSN type I and type II.

Positive_regulation (cause) of HSN type I associated with hsan

3) Confidence 0.07 Published 1999 Journal Am. J. Med. Genet. Section Abstract Doc Link 10232753 Disease Relevance 0.59 Pain Relevance 0.55

HSAN4 is caused by mutations in the NTRK1 gene coding for the tyrosine kinase receptor A.

Positive_regulation (caused) of HSAN4

4) Confidence 0.05 Published 2008 Journal Neuromuscul. Disord. Section Abstract Doc Link 18657423 Disease Relevance 0.89 Pain Relevance 0.13

OK-432 was highly stimulatory for TNF-alpha production of ascites cells compared with other biological response modifiers of PSK and LEM.

Positive_regulation (stimulatory) of PSK associated with pressure and volume under development

5) Confidence 0.02 Published 2006 Journal Anticancer Res. Section Abstract Doc Link 17094388 Disease Relevance 1.57 Pain Relevance 0.08

General Comments

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