Source: BEFREE

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: 84947
Gene Symbol: SERAC1
SERAC1 		serine active site containing 1 0.686 0.385 3.9E-06
CUI: C4040739
Disease: 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome 		disease 0.360 None 1.000 6 0 2006 2018
Entrez Id: 55750
Gene Symbol: AGK
AGK 		acylglycerol kinase 0.650 0.654 6.0E-09
CUI: C4040739
Disease: 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome 		disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 6901
Gene Symbol: TAZ
TAZ 		tafazzin 0.477 0.808 0.73
CUI: C4040739
Disease: 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome 		disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 80207
Gene Symbol: OPA3
OPA3 		outer mitochondrial membrane lipid metabolism regulator OPA3 0.653 0.385 0.57
CUI: C4040739
Disease: 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome 		disease 0.010 None 1.000 1 0 2013 2013