Disease: Movement Disorders ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918243
rs121918243
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss. 26658511 2015
dbSNP: rs121918243
rs121918243
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR MMACHC gene mutation in familial hypogonadism with neurological symptoms. 26283149 2015
dbSNP: rs121918243
rs121918243
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy. 25398587 2014
dbSNP: rs121918243
rs121918243
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management. 21748409 2012
dbSNP: rs121918243
rs121918243
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations. 19370762 2009
dbSNP: rs121918243
rs121918243
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. 16311595 2006
dbSNP: rs121918243
rs121918243
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations. 16714133 2006