rs119482081, SPTLC1

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Sensory Autonomic Neuropathy, Type 1
CUI: C0020071
Disease: Hereditary Sensory Autonomic Neuropathy, Type 1
0.700 CausalMutation CLINVAR HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship. 26681808 2016
Hereditary Sensory Autonomic Neuropathy, Type 1
CUI: C0020071
Disease: Hereditary Sensory Autonomic Neuropathy, Type 1
0.700 CausalMutation CLINVAR Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids. 20097765 2010
Hereditary Sensory Autonomic Neuropathy, Type 1
CUI: C0020071
Disease: Hereditary Sensory Autonomic Neuropathy, Type 1
0.700 CausalMutation CLINVAR A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated. 19132419 2009
Hereditary Sensory Autonomic Neuropathy, Type 1
CUI: C0020071
Disease: Hereditary Sensory Autonomic Neuropathy, Type 1
0.700 CausalMutation CLINVAR Although in HSN1 lymphoblasts, the C133Y and C133W mutations do not alter the steady-state levels of LCB1 and LCB2 subunits, they result in reduced SPT activity and sphingolipid synthesis. 12417569 2002