Source: CLINVAR

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: 10060
Gene Symbol: ABCC9
ABCC9 		ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C0024433
Disease: Macrostomia
Macrostomia 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 6659
Gene Symbol: SOX4
SOX4 		SRY-box transcription factor 4 0.489 0.808 0.93
CUI: C0024433
Disease: Macrostomia
Macrostomia 		disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 6664
Gene Symbol: SOX11
SOX11 		SRY-box transcription factor 11 0.494 0.808 0.86
CUI: C0024433
Disease: Macrostomia
Macrostomia 		disease 0.100 None 0 1
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0024433
Disease: Macrostomia
Macrostomia 		disease 0.100 None 0 1
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11 		ankyrin repeat domain 11 0.556 0.808 1.00
CUI: C0024433
Disease: Macrostomia
Macrostomia 		disease 0.100 None 0 1
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		gap junction protein beta 2 0.441 0.846 6.6E-16
CUI: C0024433
Disease: Macrostomia
Macrostomia 		disease 0.100 None 0 1
Entrez Id: 2517
Gene Symbol: FUCA1
FUCA1 		alpha-L-fucosidase 1 0.623 0.577 2.7E-08
CUI: C0024433
Disease: Macrostomia
Macrostomia 		disease 0.100 None 0 1
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		pogo transposable element derived with ZNF domain 0.599 0.577 1.00
CUI: C0024433
Disease: Macrostomia
Macrostomia 		disease 0.100 None 0 1
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0024433
Disease: Macrostomia
Macrostomia 		disease 0.100 None 0 1
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0024433
Disease: Macrostomia
Macrostomia 		disease 0.100 None 0 1