Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 92667
Gene Symbol: MGME1
MGME1 		0.700 CausalMutation disease CLINVAR Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia. 28711739 2017
Entrez Id: 92667
Gene Symbol: MGME1
MGME1 		0.700 GeneticVariation disease UNIPROT Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. 23313956 2013
Entrez Id: 92667
Gene Symbol: MGME1
MGME1 		0.700 Biomarker disease GENOMICS_ENGLAND Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. 23313956 2013
Entrez Id: 92667
Gene Symbol: MGME1
MGME1 		0.700 GermlineCausalMutation disease ORPHANET Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. 23313956 2013
Entrez Id: 92667
Gene Symbol: MGME1
MGME1 		0.700 Biomarker disease CTD_human
Entrez Id: 58495
Gene Symbol: OVOL2
OVOL2 		0.100 CausalMutation disease CLINVAR Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia. 28711739 2017