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hereditary sensory and autonomic neuropathy
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
NTRK1
ELP1
DIAPH3
HSN1B
XIST
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
Tyrosine-protein kinase, neurotrophic receptor, type 1
FIRESTEIN_PROLIFERATION
GSE24814_STAT5_KO_VS_WT_PRE_BCELL_DN
Tyrosine-protein kinase receptor NTRK, C2-Ig-like domain
behavioral response to formalin induced pain
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Curated Studies
Most Correlated Studies
Olfactory ecto-mesenchymal stem cells (OE-MSCs) from familial dysautonomia patients
OMIM - Pain
Fibroblasts with mutant ELP1 from familial dysautonomia patients treated with small molecule kinetin
Neural crest cells from fibroblast-derived PSC of patients with severe or mild familial dysautonomia
Mouse Phenotypes - Hereditary peripheral neuropathy
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Literature
Most Relevant Literature
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.
Epidemiology of hereditary sensory and autonomic neuropathy type IV and V in Japan.
Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation.
Novel mutation in the replication focus targeting sequence domain of DNMT1 causes hereditary sensory…
Bisphosphonate therapy for painless fracture: change of HSAN 1 clinical course with biphosphonate an…
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Clinical Trials
Most Relevant Clinical Trials
Proprioception and Sensorimotor Control in Hereditary Sensory and Autonomic Neuropathy
L-Serine Supplementation in Hereditary Sensory Neuropathy Type 1
Medico-economic and Quality of Life Impact of Sjogren-associated Small Fiber Neuropathy
Early and Systematic Screening in Chronic Neuropathy
Intravenous Immunoglobulin Therapy for Small Fiber Neuropathy
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