Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809165
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 		0.710 Biomarker disease BEFREE Four different MMDS have been analyzed in detail according to the genes involved in the disease, MMDS1 (NFU1), MMDS2 (BOLA3), MMDS3 (IBA57) and MMDS4 (ISCA2). 29767723 2018
CUI: C3809165
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 		0.710 Biomarker disease GENOMICS_ENGLAND Phenotypic spectrum of mutations in IBA57, a candidate gene for cavitating leukoencephalopathy. 28671726 2018
CUI: C3809165
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 		0.710 Biomarker disease GENOMICS_ENGLAND Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes. 27785568 2017
CUI: C3809165
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 		0.710 Biomarker disease GENOMICS_ENGLAND Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy. 25971455 2015
CUI: C3809165
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 		0.710 GeneticVariation disease UNIPROT Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy. 23462291 2013
CUI: C3809165
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 		0.710 Biomarker disease GENOMICS_ENGLAND Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy. 23462291 2013
CUI: C3809165
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 		0.710 GermlineCausalMutation disease ORPHANET Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy. 23462291 2013
CUI: C3809165
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 		0.710 CausalMutation disease CLINVAR