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: rs104894351
rs104894351
Entrez Id: 26353;107984440
Gene Symbol: HSPB8;LOC107984440
HSPB8;LOC107984440
CUI: C3711384
Disease:
Distal Hereditary Motor Neuropathy, Type II 		0.020 GeneticVariation BEFREE A similar impairment of autophagy could also be demonstrated in peripheral blood mononuclear cells from two dHMNII patients with the HspB8(K141E) mutation. 21985219 2011
dbSNP: rs104894351
rs104894351
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