Source: CLINGEN

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: 6391
Gene Symbol: SDHC
SDHC 		succinate dehydrogenase complex subunit C 0.517 0.846 2.0E-04
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		disease 0.610 definitive 1.000 8 0 2000 2018
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		succinate dehydrogenase complex subunit D 0.472 0.885 0.34
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		disease 0.600 definitive 1.000 9 0 1997 2015
Entrez Id: 4149
Gene Symbol: MAX
MAX 		MYC associated factor X 0.553 0.769 0.83
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		disease 0.600 definitive 1.000 7 0 1992 2017
Entrez Id: 54949
Gene Symbol: SDHAF2
SDHAF2 		succinate dehydrogenase complex assembly factor 2 0.604 0.692 2.8E-06
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		disease 0.600 definitive 1.000 6 0 1981 2017
Entrez Id: 6389
Gene Symbol: SDHA
SDHA 		succinate dehydrogenase complex flavoprotein subunit A 0.517 0.731 2.6E-10
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		disease 0.500 definitive 1.000 8 0 2005 2013
Entrez Id: 6390
Gene Symbol: SDHB
SDHB 		succinate dehydrogenase complex iron sulfur subunit B 0.474 0.846 2.4E-04
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		disease 0.430 definitive 1.000 8 0 2001 2019
Entrez Id: 55654
Gene Symbol: TMEM127
TMEM127 		transmembrane protein 127 0.638 0.615 1.3E-02
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		disease 0.400 definitive 1.000 8 0 2010 2016
Entrez Id: 5979
Gene Symbol: RET
RET 		ret proto-oncogene 0.392 0.885 1.00
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		disease 0.300 definitive 1.000 12 0 1993 2017
Entrez Id: 7428
Gene Symbol: VHL
VHL 		von Hippel-Lindau tumor suppressor 0.443 0.846 8.0E-02
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		disease 0.300 definitive 1.000 12 0 1991 2011
Entrez Id: 4763
Gene Symbol: NF1
NF1 		neurofibromin 1 0.440 0.885 0.90
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		disease 0.300 definitive 1.000 10 0 1992 2013
Entrez Id: 2271
Gene Symbol: FH
FH 		fumarate hydratase 0.489 0.846 8.8E-02
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		disease 0.300 moderate 1.000 6 0 2005 2015
Entrez Id: 54583
Gene Symbol: EGLN1
EGLN1 		egl-9 family hypoxia inducible factor 1 0.540 0.731 0.97
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		disease 0.300 moderate 1.000 6 0 2006 2015
Entrez Id: 23095
Gene Symbol: KIF1B
KIF1B 		kinesin family member 1B 0.516 0.808 1.00
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		disease 0.300 limited 1.000 5 0 2008 2014
Entrez Id: 4221
Gene Symbol: MEN1
MEN1 		menin 1 0.444 0.808 1.00
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		disease 0.300 moderate 1.000 5 0 1999 2015
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1 		endothelial PAS domain protein 1 0.454 0.731 0.60
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		disease 0.300 disputed 1.000 3 0 2013 2016
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		disease 0.300 limited 1.000 1 0 2015 2015
Entrez Id: 10461
Gene Symbol: MERTK
MERTK 		MER proto-oncogene, tyrosine kinase 0.531 0.692 2.7E-11
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		disease 0.300 limited 1.000 1 0 2016 2016
Entrez Id: 4286
Gene Symbol: MITF
MITF 		melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		disease 0.300 limited 1.000 1 0 2016 2016
Entrez Id: 4233
Gene Symbol: MET
MET 		MET proto-oncogene, receptor tyrosine kinase 0.380 0.846 0.97
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		disease 0.300 limited 1.000 1 0 2016 2016
Entrez Id: 4191
Gene Symbol: MDH2
MDH2 		malate dehydrogenase 2 0.595 0.731 6.7E-03
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		disease 0.300 limited 1.000 1 0 2015 2015
Entrez Id: 2668
Gene Symbol: GDNF
GDNF 		glial cell derived neurotrophic factor 0.434 0.885 0.20
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		disease 0.300 limited 1.000 1 0 1997 1997
Entrez Id: 112398
Gene Symbol: EGLN2
EGLN2 		egl-9 family hypoxia inducible factor 2 0.604 0.731 0.72
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		disease 0.300 limited 1.000 1 0 2015 2015
Entrez Id: 8314
Gene Symbol: BAP1
BAP1 		BRCA1 associated protein 1 0.454 0.731 0.99
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		disease 0.300 limited 1.000 1 0 2012 2012