Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848552
Disease: Methylmalonic Aciduria and Homocystinuria, CblD Type
Methylmalonic Aciduria and Homocystinuria, CblD Type 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1848552
Disease: Methylmalonic Aciduria and Homocystinuria, CblD Type
Methylmalonic Aciduria and Homocystinuria, CblD Type 		0.700 GeneticVariation disease UNIPROT Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking. 26483544 2015
CUI: C1848552
Disease: Methylmalonic Aciduria and Homocystinuria, CblD Type
Methylmalonic Aciduria and Homocystinuria, CblD Type 		0.700 GeneticVariation disease UNIPROT Characterization of functional domains of the cblD (MMADHC) gene product. 24722857 2014
CUI: C1848552
Disease: Methylmalonic Aciduria and Homocystinuria, CblD Type
Methylmalonic Aciduria and Homocystinuria, CblD Type 		0.700 CausalMutation disease CLINVAR Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism. 22156578 2012
CUI: C1848552
Disease: Methylmalonic Aciduria and Homocystinuria, CblD Type
Methylmalonic Aciduria and Homocystinuria, CblD Type 		0.700 GermlineCausalMutation disease ORPHANET Gene identification for the cblD defect of vitamin B12 metabolism. 18385497 2008
CUI: C1848552
Disease: Methylmalonic Aciduria and Homocystinuria, CblD Type
Methylmalonic Aciduria and Homocystinuria, CblD Type 		0.700 GeneticVariation disease UNIPROT Gene identification for the cblD defect of vitamin B12 metabolism. 18385497 2008
CUI: C1848552
Disease: Methylmalonic Aciduria and Homocystinuria, CblD Type
Methylmalonic Aciduria and Homocystinuria, CblD Type 		0.700 Biomarker disease CTD_human
CUI: C1848553
Disease: Homocystinuria, CblD Type, Variant 1
Homocystinuria, CblD Type, Variant 1 		0.600 Biomarker disease CTD_human
CUI: C1848553
Disease: Homocystinuria, CblD Type, Variant 1
Homocystinuria, CblD Type, Variant 1 		0.600 CausalMutation disease CLINVAR
CUI: C1848553
Disease: Homocystinuria, CblD Type, Variant 1
Homocystinuria, CblD Type, Variant 1 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0013421
Disease: Dystonia
Dystonia 		0.400 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0013421
Disease: Dystonia
Dystonia 		0.400 Biomarker phenotype HPO
CUI: C1848554
Disease: Methylmalonic Aciduria, CblD Type, Variant 2
Methylmalonic Aciduria, CblD Type, Variant 2 		0.400 Biomarker disease CTD_human
CUI: C1848554
Disease: Methylmalonic Aciduria, CblD Type, Variant 2
Methylmalonic Aciduria, CblD Type, Variant 2 		0.400 CausalMutation disease CLINVAR
CUI: C0019880
Disease: Homocystinuria
Homocystinuria 		0.120 GeneticVariation disease BEFREE The results of molecular analysis of the MMADHC gene are consistent with the hypothesis that mutations affecting the N terminus of the MMADHC protein are associated with methylmalonic aciduria, and mutations affecting the C terminus are associated with homocystinuria. 19058814 2009
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		0.120 GeneticVariation phenotype BEFREE The results of molecular analysis of the MMADHC gene are consistent with the hypothesis that mutations affecting the N terminus of the MMADHC protein are associated with methylmalonic aciduria, and mutations affecting the C terminus are associated with homocystinuria. 19058814 2009
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.120 GeneticVariation disease BEFREE The results of molecular analysis of the MMADHC gene are consistent with the hypothesis that mutations affecting the N terminus of the MMADHC protein are associated with methylmalonic aciduria, and mutations affecting the C terminus are associated with homocystinuria. 19058814 2009
CUI: C0019880
Disease: Homocystinuria
Homocystinuria 		0.120 Biomarker disease BEFREE The cblD gene was localized to human chromosome 2q23.2, and a candidate gene, designated MMADHC (methylmalonic aciduria, cblD type, and homocystinuria), was identified in this region. 18385497 2008
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		0.120 Biomarker phenotype BEFREE The cblD gene was localized to human chromosome 2q23.2, and a candidate gene, designated MMADHC (methylmalonic aciduria, cblD type, and homocystinuria), was identified in this region. 18385497 2008
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.120 Biomarker disease BEFREE The cblD gene was localized to human chromosome 2q23.2, and a candidate gene, designated MMADHC (methylmalonic aciduria, cblD type, and homocystinuria), was identified in this region. 18385497 2008
CUI: C0019880
Disease: Homocystinuria
Homocystinuria 		0.120 Biomarker disease HPO
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		0.120 Biomarker phenotype HPO
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.120 Biomarker disease HPO
CUI: C0002888
Disease: Anemia, Megaloblastic
Anemia, Megaloblastic 		0.100 Biomarker disease HPO
CUI: C0003123
Disease: Anorexia
Anorexia 		0.100 Biomarker disease HPO