Source: HPO

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: 5371
Gene Symbol: PML
PML 		promyelocytic leukemia 0.477 0.846 0.21
CUI: C0553681
Disease: Hypofibrinogenemia
Hypofibrinogenemia 		disease 0.100 None 0 0
Entrez Id: 4926
Gene Symbol: NUMA1
NUMA1 		nuclear mitotic apparatus protein 1 0.644 0.577 1.00
CUI: C0553681
Disease: Hypofibrinogenemia
Hypofibrinogenemia 		disease 0.100 None 0 0
Entrez Id: 4869
Gene Symbol: NPM1
NPM1 		nucleophosmin 1 0.464 0.846 1.00
CUI: C0553681
Disease: Hypofibrinogenemia
Hypofibrinogenemia 		disease 0.100 None 0 0
Entrez Id: 9630
Gene Symbol: GNA14
GNA14 		G protein subunit alpha 14 0.674 0.500 2.4E-17
CUI: C0553681
Disease: Hypofibrinogenemia
Hypofibrinogenemia 		disease 0.100 None 0 0
Entrez Id: 4179
Gene Symbol: CD46
CD46 		CD46 molecule 0.477 0.808 4.7E-07
CUI: C0553681
Disease: Hypofibrinogenemia
Hypofibrinogenemia 		disease 0.100 None 0 0
Entrez Id: 359948
Gene Symbol: IRF2BP2
IRF2BP2 		interferon regulatory factor 2 binding protein 2 0.641 0.500 0.85
CUI: C0553681
Disease: Hypofibrinogenemia
Hypofibrinogenemia 		disease 0.100 None 0 0
Entrez Id: 2243
Gene Symbol: FGA
FGA 		fibrinogen alpha chain 0.573 0.769 1.2E-13
CUI: C0553681
Disease: Hypofibrinogenemia
Hypofibrinogenemia 		disease 0.110 None 1.000 0 0 2007 2019
Entrez Id: 2244
Gene Symbol: FGB
FGB 		fibrinogen beta chain 0.584 0.692 0.57
CUI: C0553681
Disease: Hypofibrinogenemia
Hypofibrinogenemia 		disease 0.130 None 1.000 0 0 2013 2019
Entrez Id: 2266
Gene Symbol: FGG
FGG 		fibrinogen gamma chain 0.633 0.615 5.0E-02
CUI: C0553681
Disease: Hypofibrinogenemia
Hypofibrinogenemia 		disease 0.190 None 1.000 0 0 2005 2019