Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 CausalMutation group CLINVAR Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss. 26658511 2015
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 CausalMutation group CLINVAR MMACHC gene mutation in familial hypogonadism with neurological symptoms. 26283149 2015
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 CausalMutation group 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
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 CausalMutation group CLINVAR Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management. 21748409 2012
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 CausalMutation group CLINVAR Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations. 19370762 2009
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 CausalMutation group CLINVAR Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. 16311595 2006
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 CausalMutation group CLINVAR Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations. 16714133 2006