INT157215

Context Info Confidence 0.32 First Reported 2009 Last Reported 2009 Negated 0 Speculated 0 Reported most in Abstract Documents 1 Total Number 1 Disease Relevance 0.67 Pain Relevance 0.22

small molecule metabolic process (SPTLC1) endoplasmic reticulum (SPTLC1) biosynthetic process (SPTLC1) plasma membrane (SGCG) cytoskeleton (SGCG) transferase activity, transferring acyl groups (SPTLC1)

Anatomy Link Frequency peripheral nervous system 1 SGCG (Homo sapiens) SPTLC1 (Homo sapiens)

Pain Link Frequency Relevance Heat Peripheral nervous system 1 100.00 Hsan 2 99.98

Disease Link Frequency Relevance Heat Hereditary Sensory And Autonomic Neuropathies 8 100.00 Neurodegenerative Disease 1 100.00 Disease 1 75.00

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

Hereditary sensory neuropathy type 1 (HSAN I) is an autosomal dominant inherited neurodegenerative disorder of the peripheral nervous system associated with mutations in the SPTLC1 subunit of the serine palmitoyltransferase (SPT).

type Binding (associated) of SPTLC1 in peripheral nervous system associated with peripheral nervous system, neurodegenerative disease, hereditary sensory and autonomic neuropathies and hsan

1) Confidence 0.32 Published 2009 Journal Neurogenetics Section Abstract Doc Link 19132419 Disease Relevance 0.67 Pain Relevance 0.22

General Comments

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