Disease: Methylcobalamin Deficiency, CblG Type ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1855128
Disease: Methylcobalamin Deficiency, CblG Type
Methylcobalamin Deficiency, CblG Type 		0.700 Biomarker disease GENOMICS_ENGLAND Intractable Epilepsy due to MTR Deficiency: Importance of Homocysteine Analysis. 28666289 2017
CUI: C1855128
Disease: Methylcobalamin Deficiency, CblG Type
Methylcobalamin Deficiency, CblG Type 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1855128
Disease: Methylcobalamin Deficiency, CblG Type
Methylcobalamin Deficiency, CblG Type 		0.700 CausalMutation disease CLINVAR Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L. 12068375 2002
CUI: C1855128
Disease: Methylcobalamin Deficiency, CblG Type
Methylcobalamin Deficiency, CblG Type 		0.700 Biomarker disease GENOMICS_ENGLAND Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L. 12068375 2002
CUI: C1855128
Disease: Methylcobalamin Deficiency, CblG Type
Methylcobalamin Deficiency, CblG Type 		0.700 GeneticVariation disease UNIPROT Defects in human methionine synthase in cblG patients. 8968736 1996
CUI: C1855128
Disease: Methylcobalamin Deficiency, CblG Type
Methylcobalamin Deficiency, CblG Type 		0.700 GeneticVariation disease UNIPROT Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders. 8968737 1996
CUI: C1855128
Disease: Methylcobalamin Deficiency, CblG Type
Methylcobalamin Deficiency, CblG Type 		0.700 Biomarker disease CTD_human
CUI: C1855128
Disease: Methylcobalamin Deficiency, CblG Type
Methylcobalamin Deficiency, CblG Type 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1855128
Disease: Methylcobalamin Deficiency, CblG Type
Methylcobalamin Deficiency, CblG Type 		0.700 Biomarker disease GENOMICS_ENGLAND