Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC 		metabolism of cobalamin associated C 0.644 0.615 1.1E-13
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		disease 0.950 definitive 1.000 49 54 2001 2019
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC 		metabolism of cobalamin associated C 0.644 0.615 1.1E-13
CUI: C4693974
Disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC 		disease 0.800 definitive 1.000 0 5 2006 2018
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC 		metabolism of cobalamin associated C 0.644 0.615 1.1E-13
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group 0.100 None 1.000 7 1 2006 2015
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC 		metabolism of cobalamin associated C 0.644 0.615 1.1E-13
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 7 1 2006 2015
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC 		metabolism of cobalamin associated C 0.644 0.615 1.1E-13
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 7 1 2006 2015
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC 		metabolism of cobalamin associated C 0.644 0.615 1.1E-13
CUI: C0013144
Disease: Drowsiness
Drowsiness 		phenotype 0.100 None 0 1
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC 		metabolism of cobalamin associated C 0.644 0.615 1.1E-13
CUI: C0042963
Disease: Vomiting
Vomiting 		phenotype 0.100 None 0 1
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC 		metabolism of cobalamin associated C 0.644 0.615 1.1E-13
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC 		metabolism of cobalamin associated C 0.644 0.615 1.1E-13
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		disease 0.100 None 0 2