Source: GENOMICS_ENGLAND

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: 6392
Gene Symbol: SDHD
SDHD 		succinate dehydrogenase complex subunit D 0.472 0.885 0.34
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		disease 0.800 strong 0.994 0 0 1996 2020
Entrez Id: 7428
Gene Symbol: VHL
VHL 		von Hippel-Lindau tumor suppressor 0.443 0.846 8.0E-02
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		disease 0.500 strong 1.000 1 0 2002 2020
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1 		endothelial PAS domain protein 1 0.454 0.731 0.60
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		disease 0.400 strong 1.000 1 0 2006 2019
Entrez Id: 55654
Gene Symbol: TMEM127
TMEM127 		transmembrane protein 127 0.638 0.615 1.3E-02
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		disease 0.400 strong 1.000 0 0 2010 2020
Entrez Id: 54583
Gene Symbol: EGLN1
EGLN1 		egl-9 family hypoxia inducible factor 1 0.540 0.731 0.97
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		disease 0.380 strong 1.000 1 0 2007 2019
Entrez Id: 4191
Gene Symbol: MDH2
MDH2 		malate dehydrogenase 2 0.595 0.731 6.7E-03
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		disease 0.340 limited 1.000 0 0 2015 2018
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		disease 0.310 strong 1.000 0 0 2003 2003
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		disease 0.300 moderate 0 0