Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.300 Biomarker CLINGEN [SUCLA2-related encephalomyopathic mitochondrial DNA depletion syndrome: a case report and review of literature]. 25582465

2014
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.300 Biomarker CLINGEN [SUCLA2-related encephalomyopathic mitochondrial DNA depletion syndrome: a case report and review of literature]. 25582465

2014
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN [SUCLA2-related encephalomyopathic mitochondrial DNA depletion syndrome: a case report and review of literature]. 25582465

2014
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		0.300 Biomarker CLINGEN [SUCLA2-related encephalomyopathic mitochondrial DNA depletion syndrome: a case report and review of literature]. 25582465

2014
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.300 Biomarker CLINGEN [SUCLA2-related encephalomyopathic mitochondrial DNA depletion syndrome: a case report and review of literature]. 25582465

2014
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		0.300 Biomarker CLINGEN [SUCLA2-related encephalomyopathic mitochondrial DNA depletion syndrome: a case report and review of literature]. 25582465

2014
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		0.300 Biomarker CLINGEN [SUCLA2-related encephalomyopathic mitochondrial DNA depletion syndrome: a case report and review of literature]. 25582465

2014
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C2676723
Disease: JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder)
JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder) 		0.700 Biomarker CLINGEN [Clinical aspects and molecular genetics of the Jervell- and Lange-Nielsen Syndrome]. 12132284

2002
Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		1.000 Biomarker CLINGEN Zfhx1b induces a definitive neural stem cell fate in mouse embryonic stem cells. 22594450

2012
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker CLINGEN Zebrafish with mutations in mismatch repair genes develop neurofibromas and other tumors. 18593904

2008
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker CLINGEN Zebrafish with mutations in mismatch repair genes develop neurofibromas and other tumors. 18593904

2008
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker CLINGEN Zebrafish with mutations in mismatch repair genes develop neurofibromas and other tumors. 18593904

2008
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C4321324
Disease: Constitutional Mismatch Repair Deficiency Syndrome
Constitutional Mismatch Repair Deficiency Syndrome 		0.340 Biomarker CLINGEN Zebrafish with mutations in mismatch repair genes develop neurofibromas and other tumors. 18593904

2008
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C4321324
Disease: Constitutional Mismatch Repair Deficiency Syndrome
Constitutional Mismatch Repair Deficiency Syndrome 		0.340 Biomarker CLINGEN Zebrafish with mutations in mismatch repair genes develop neurofibromas and other tumors. 18593904

2008
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C4321324
Disease: Constitutional Mismatch Repair Deficiency Syndrome
Constitutional Mismatch Repair Deficiency Syndrome 		0.300 Biomarker CLINGEN Zebrafish with mutations in mismatch repair genes develop neurofibromas and other tumors. 18593904

2008
Entrez Id: 2299
Gene Symbol: FOXI1
FOXI1
CUI: C1863752
Disease: Enlarged Vestibular Aqueduct
Enlarged Vestibular Aqueduct 		0.400 Biomarker CLINGEN Zebrafish foxi one modulates cellular responses to Fgf signaling required for the integrity of ear and jaw patterning. 12702667

2003
Entrez Id: 6391
Gene Symbol: SDHC
SDHC
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.610 Biomarker CLINGEN Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome. 23175444

2013
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.600 Biomarker CLINGEN Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome. 23175444

2013
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.430 Biomarker CLINGEN Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome. 23175444

2013
Entrez Id: 7516
Gene Symbol: XRCC2
XRCC2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.530 Biomarker CLINGEN Xrcc2 is required for genetic stability, embryonic neurogenesis and viability in mice. 11118202

2000
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		1.000 Biomarker CLINGEN XPD mutations prevent TFIIH-dependent transactivation by nuclear receptors and phosphorylation of RARalpha. 11955452

2002
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker CLINGEN Xp11.22 Microduplications Including HUWE1: Case Report and Literature Review. 26587761

2016
Entrez Id: 186
Gene Symbol: AGTR2
AGTR2
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker CLINGEN XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. 23871722

2013
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		1.000 Biomarker CLINGEN Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy. 11228268

2001
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		1.000 Biomarker CLINGEN Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease. 8797827

1996