Disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3553915
Disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE 		0.700 Biomarker disease GENOMICS_ENGLAND Progressive hyperpigmentation in a Taiwanese child due to an inborn error of vitamin B12 metabolism (cblJ). 25234635 2015
CUI: C3553915
Disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE 		0.700 GeneticVariation disease UNIPROT Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. 22922874 2012
CUI: C3553915
Disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE 		0.700 Biomarker disease GENOMICS_ENGLAND Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: diagnosis and novel mutation revealed by exome sequencing. 23141461 2012
CUI: C3553915
Disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. 22922874 2012
CUI: C3553915
Disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE 		0.700 GermlineCausalMutation disease ORPHANET Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. 22922874 2012
CUI: C3553915
Disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE 		0.700 Biomarker disease CTD_human
CUI: C3553915
Disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE 		0.700 CausalMutation disease CLINVAR