Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10558
Gene Symbol: SPTLC1
SPTLC1
0.020 GeneticVariation group BEFREE Hereditary sensory neuropathy type I (HSN I) is an axonal form of autosomal-dominant hereditary motor and sensory neuropathy distinguished by prominent sensory loss that leads to painless injuries. 21194679 2011
Entrez Id: 10558
Gene Symbol: SPTLC1
SPTLC1
0.020 Biomarker group BEFREE Sensory loss and ulcero-mutilating features have been observed in hereditary sensory neuropathy type I and in hereditary motor and sensory neuropathy type IIB, also referred as Charcot-Marie-Tooth disease type 2B. 11801401 2002