Disease: Methylmalonic Aciduria and Homocystinuria, CblD Type ×
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