Disease: Inherited neuropathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.020 GeneticVariation disease BEFREE To study the frequency of mutations in these genes and the associated phenotypes, we screened 140 index patients in our inherited neuropathy cohort with a clinical diagnosis of HSAN for mutations in the coding regions of SPTLC1, RAB7, WNK1/HSN2, FAM134B, NTRK1 (TRKA) and NGFB. 22302274 2012
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.020 Biomarker disease BEFREE HSAN1 is an inherited neuropathy found to be associated with several missense mutations in the SPTLC1 subunit of serine palmitoyltransferase (SPT). 20097765 2010