Source: ALL

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: 6911
Gene Symbol: TBX6
TBX6 		T-box transcription factor 6 0.659 0.385 6.8E-03
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		disease 0.120 None 1.000 2 0 2015 2017
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		GLI family zinc finger 3 0.436 0.846 1.00
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		disease 0.110 None 1.000 1 0 2014 2014
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E 		inositol polyphosphate-5-phosphatase E 0.561 0.615 3.1E-03
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		disease 0.100 None 0 1
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		disease 0.100 None 0 0
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24 		TBC1 domain family member 24 0.530 0.808 1.3E-08
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		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: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		disease 0.100 None 0 0
Entrez Id: 5908
Gene Symbol: RAP1B
RAP1B 		RAP1B, member of RAS oncogene family 0.565 0.769 0.91
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		disease 0.100 None 0 0
Entrez Id: 6651
Gene Symbol: SON
SON 		SON DNA binding protein 0.565 0.769 1.00
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		disease 0.100 None 0 0
Entrez Id: 6657
Gene Symbol: SOX2
SOX2 		SRY-box transcription factor 2 0.405 0.808 0.71
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		disease 0.100 None 0 0
Entrez Id: 6909
Gene Symbol: TBX2
TBX2 		T-box transcription factor 2 0.544 0.769 0.99
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		disease 0.100 None 0 0
Entrez Id: 5906
Gene Symbol: RAP1A
RAP1A 		RAP1A, member of RAS oncogene family 0.502 0.808 0.62
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		disease 0.100 None 0 0
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A 		lysine demethylase 6A 0.498 0.769 1.00
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		disease 0.100 None 0 0
Entrez Id: 7474
Gene Symbol: WNT5A
WNT5A 		Wnt family member 5A 0.443 0.808 0.99
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		disease 0.100 None 0 0
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5 		WASH complex subunit 5 0.572 0.615 8.3E-18
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		disease 0.100 None 0 0
Entrez Id: 9723
Gene Symbol: SEMA3E
SEMA3E 		semaphorin 3E 0.515 0.769 8.7E-09
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		disease 0.100 None 0 0
Entrez Id: 8942
Gene Symbol: KYNU
KYNU 		kynureninase 0.617 0.692 4.2E-18
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		disease 0.100 None 0 0
Entrez Id: 8643
Gene Symbol: PTCH2
PTCH2 		patched 2 0.563 0.692 3.4E-16
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		disease 0.100 None 0 0
Entrez Id: 8558
Gene Symbol: CDK10
CDK10 		cyclin dependent kinase 10 0.650 0.577 1.2E-16
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		disease 0.100 None 0 0
Entrez Id: 8517
Gene Symbol: IKBKG
IKBKG 		inhibitor of nuclear factor kappa B kinase regulatory subunit gamma 0.493 0.769 8.5E-02
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		disease 0.100 None 0 0
Entrez Id: 84667
Gene Symbol: HES7
HES7 		hes family bHLH transcription factor 7 0.647 0.538 0.83
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		disease 0.100 None 0 0
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		disease 0.100 None 0 0
Entrez Id: 7476
Gene Symbol: WNT7A
WNT7A 		Wnt family member 7A 0.531 0.692 3.6E-02
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		disease 0.100 None 0 0
Entrez Id: 546
Gene Symbol: ATRX
ATRX 		ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		disease 0.100 None 0 0
Entrez Id: 54499
Gene Symbol: TMCO1
TMCO1 		transmembrane and coiled-coil domains 1 0.588 0.654 9.4E-10
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		disease 0.100 None 0 1
Entrez Id: 5447
Gene Symbol: POR
POR 		cytochrome p450 oxidoreductase 0.502 0.769 3.4E-10
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		disease 0.100 None 0 0