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: 118856
Gene Symbol: MMP21
MMP21 		matrix metallopeptidase 21 0.621 0.385 1.3E-09
CUI: C0152419
Disease: Interrupted aortic arch
Interrupted aortic arch 		disease 0.100 None 0 0
Entrez Id: 129563
Gene Symbol: DIS3L2
DIS3L2 		DIS3 like 3'-5' exoribonuclease 2 0.647 0.500 0.94
CUI: C0152419
Disease: Interrupted aortic arch
Interrupted aortic arch 		disease 0.100 None 0 0
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0152419
Disease: Interrupted aortic arch
Interrupted aortic arch 		disease 0.100 None 0 0
Entrez Id: 2627
Gene Symbol: GATA6
GATA6 		GATA binding protein 6 0.478 0.808 1.00
CUI: C0152419
Disease: Interrupted aortic arch
Interrupted aortic arch 		disease 0.100 None 0 0
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0152419
Disease: Interrupted aortic arch
Interrupted aortic arch 		disease 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0152419
Disease: Interrupted aortic arch
Interrupted aortic arch 		disease 0.100 None 0 0
Entrez Id: 56006
Gene Symbol: SMG9
SMG9 		SMG9 nonsense mediated mRNA decay factor 0.729 0.346 3.5E-13
CUI: C0152419
Disease: Interrupted aortic arch
Interrupted aortic arch 		disease 0.100 None 0 0
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		T-box transcription factor 1 0.433 0.808 0.84
CUI: C0152419
Disease: Interrupted aortic arch
Interrupted aortic arch 		disease 0.100 None 0 0
Entrez Id: 9723
Gene Symbol: SEMA3E
SEMA3E 		semaphorin 3E 0.515 0.769 8.7E-09
CUI: C0152419
Disease: Interrupted aortic arch
Interrupted aortic arch 		disease 0.100 None 0 0