Gene: ZNF575 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 284346
Gene Symbol: ZNF575
ZNF575 		0.100 CausalMutation disease 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 		0.100 CausalMutation disease CLINVAR Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease. 26917598 2016
Entrez Id: 284346
Gene Symbol: ZNF575
ZNF575 		0.100 GeneticVariation disease CLINVAR Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. 19136963 2009
Entrez Id: 284346
Gene Symbol: ZNF575
ZNF575 		0.100 CausalMutation disease 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 		0.100 CausalMutation disease CLINVAR ETHE1 mutations are specific to ethylmalonic encephalopathy. 16183799 2006
Entrez Id: 284346
Gene Symbol: ZNF575
ZNF575 		0.100 GeneticVariation disease 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 		0.100 CausalMutation disease CLINVAR Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. 14732903 2004