Disease: Distal Hereditary Motor Neuropathy, Type II ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894345
rs104894345
Entrez Id: 26353;107984440
Gene Symbol: HSPB8;LOC107984440
HSPB8;LOC107984440
CUI: C3711384
Disease:
Distal Hereditary Motor Neuropathy, Type II 		0.020 GeneticVariation BEFREE Two mutations (K141E, K141N) in the small heat shock protein (sHSP) HSP22 (HSPB8) are associated with the inherited peripheral motor neuron disorders distal hereditary motor neuropathy type II and axonal Charcot-Marie-Tooth disease type 2L. 16935933 2006
dbSNP: rs104894345
rs104894345
Entrez Id: 26353;107984440
Gene Symbol: HSPB8;LOC107984440
HSPB8;LOC107984440
CUI: C3711384
Disease:
Distal Hereditary Motor Neuropathy, Type II 		0.020 GeneticVariation BEFREE In two pedigrees with distal hereditary motor neuropathy type II linked to chromosome 12q24.3, we identified the same mutation (K141N) in small heat-shock 22-kDa protein 8 (encoded by HSPB8; also called HSP22). 15122253 2004