Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
CUI: C1833308
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
0.820 GeneticVariation BEFREE Recently, gain-of-toxic-function mutations (namely, mutations N88S and S90L) in the seipin gene have been identified in autosomal dominant motor neuron diseases such as Silver syndrome/spastic paraplegia 17 (SPG17) (OMIM #270685) and distal hereditary motor neuropathy type V (dHMN-V) (OMIM #182960). 18790819 2009
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
CUI: C1833308
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
0.820 GeneticVariation UNIPROT Four patients diagnosed with dHMN-V or SS carried known heterozygous BSCL2 mutations (N88S and S90L). 17663003 2007
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
CUI: C1833308
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
0.820 GeneticVariation BEFREE Our data confirm that most likely only two mutations (N88S, S90L) in exon 3 of BSCL2 may lead to dHMN-V or SS phenotypes.Mutations in GARS, HSPB1 and HSPB8. are not a common cause of dHMN-V, SS and CMT2D. 17663003 2007
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
CUI: C1833308
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
0.820 GeneticVariation UNIPROT Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. 14981520 2004
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
CUI: C1833308
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
0.820 CausalMutation CLINVAR