Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 284346
Gene Symbol: ZNF575
ZNF575
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		0.100 CausalMutation CLINVAR Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy. 29526615

2018
Entrez Id: 284346
Gene Symbol: ZNF575
ZNF575
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		0.100 CausalMutation CLINVAR Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease. 26917598

2016
Entrez Id: 284346
Gene Symbol: ZNF575
ZNF575
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		0.100 GeneticVariation CLINVAR Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. 19136963

2009
Entrez Id: 284346
Gene Symbol: ZNF575
ZNF575
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		0.100 CausalMutation CLINVAR Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy. 18593870

2008
Entrez Id: 284346
Gene Symbol: ZNF575
ZNF575
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		0.100 CausalMutation CLINVAR ETHE1 mutations are specific to ethylmalonic encephalopathy. 16183799

2006
Entrez Id: 284346
Gene Symbol: ZNF575
ZNF575
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		0.100 GeneticVariation CLINVAR Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. 14732903

2004
Entrez Id: 284346
Gene Symbol: ZNF575
ZNF575
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		0.100 CausalMutation CLINVAR Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. 14732903

2004