Source: CURATED

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: 617
Gene Symbol: BCS1L
BCS1L 		BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 0.534 0.808 4.7E-13
CUI: C1864002
Disease: GRACILE SYNDROME (disorder)
GRACILE SYNDROME (disorder) 		disease 0.770 None 1.000 7 27 1998 2019
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 0.534 0.808 4.7E-13
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome 		disease 0.750 definitive 1.000 9 10 1998 2017
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 0.534 0.808 4.7E-13
CUI: C3541471
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 		disease 0.700 None 1.000 11 13 1998 2017
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 0.534 0.808 4.7E-13
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.700 limited 1.000 10 3 1998 2017
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 0.534 0.808 4.7E-13
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		disease 0.400 limited 1.000 6 1 1999 2017
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 0.534 0.808 4.7E-13
CUI: C0008370
Disease: Cholestasis
Cholestasis 		disease 0.400 moderate 1.000 2 0 1998 2002
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 0.534 0.808 4.7E-13
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		group 0.330 strong 1.000 1 0 2007 2019
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 0.534 0.808 4.7E-13
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		disease 0.300 limited 1.000 6 0 1999 2017
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 0.534 0.808 4.7E-13
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		disease 0.300 limited 1.000 6 0 1999 2017
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 0.534 0.808 4.7E-13
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		disease 0.300 limited 1.000 6 0 1999 2017
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 0.534 0.808 4.7E-13
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		disease 0.300 limited 1.000 6 0 1999 2017
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 0.534 0.808 4.7E-13
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		disease 0.300 limited 1.000 6 0 1999 2017
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 0.534 0.808 4.7E-13
CUI: C0751268
Disease: Encephalopathy, Subacute Necrotizing, Juvenile
Encephalopathy, Subacute Necrotizing, Juvenile 		disease 0.300 None 0 0
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 0.534 0.808 4.7E-13
CUI: C0751267
Disease: Encephalopathy, Subacute Necrotizing, Infantile
Encephalopathy, Subacute Necrotizing, Infantile 		disease 0.300 None 0 0