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: 168667
Gene Symbol: BMPER
BMPER 		BMP binding endothelial regulator 0.641 0.577 6.6E-07
CUI: C0426816
Disease: Absence of rib
Absence of rib 		phenotype 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: C0426816
Disease: Absence of rib
Absence of rib 		phenotype 0.100 None 0 0
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1 		VANGL planar cell polarity protein 1 0.570 0.538 2.0E-02
CUI: C0426816
Disease: Absence of rib
Absence of rib 		phenotype 0.100 None 0 0
Entrez Id: 80199
Gene Symbol: FUZ
FUZ 		fuzzy planar cell polarity protein 0.597 0.731 1.3E-05
CUI: C0426816
Disease: Absence of rib
Absence of rib 		phenotype 0.100 None 0 0
Entrez Id: 7473
Gene Symbol: WNT3
WNT3 		Wnt family member 3 0.536 0.808 0.88
CUI: C0426816
Disease: Absence of rib
Absence of rib 		phenotype 0.100 None 0 0
Entrez Id: 6911
Gene Symbol: TBX6
TBX6 		T-box transcription factor 6 0.659 0.385 6.8E-03
CUI: C0426816
Disease: Absence of rib
Absence of rib 		phenotype 0.100 None 0 0
Entrez Id: 6657
Gene Symbol: SOX2
SOX2 		SRY-box transcription factor 2 0.405 0.808 0.71
CUI: C0426816
Disease: Absence of rib
Absence of rib 		phenotype 0.100 None 0 0
Entrez Id: 6497
Gene Symbol: SKI
SKI 		SKI proto-oncogene 0.503 0.808 1.00
CUI: C0426816
Disease: Absence of rib
Absence of rib 		phenotype 0.100 None 0 0
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0426816
Disease: Absence of rib
Absence of rib 		phenotype 0.100 None 0 0
Entrez Id: 4990
Gene Symbol: SIX6
SIX6 		SIX homeobox 6 0.588 0.654 0.52
CUI: C0426816
Disease: Absence of rib
Absence of rib 		phenotype 0.100 None 0 0
Entrez Id: 4920
Gene Symbol: ROR2
ROR2 		receptor tyrosine kinase like orphan receptor 2 0.498 0.731 1.2E-04
CUI: C0426816
Disease: Absence of rib
Absence of rib 		phenotype 0.100 None 0 0
Entrez Id: 4617
Gene Symbol: MYF5
MYF5 		myogenic factor 5 0.686 0.423 2.3E-04
CUI: C0426816
Disease: Absence of rib
Absence of rib 		phenotype 0.100 None 0 0
Entrez Id: 340419
Gene Symbol: RSPO2
RSPO2 		R-spondin 2 0.558 0.577 2.5E-02
CUI: C0426816
Disease: Absence of rib
Absence of rib 		phenotype 0.100 None 0 0
Entrez Id: 28952
Gene Symbol: CCDC22
CCDC22 		coiled-coil domain containing 22 0.595 0.692 1.00
CUI: C0426816
Disease: Absence of rib
Absence of rib 		phenotype 0.100 None 0 0
Entrez Id: 2313
Gene Symbol: FLI1
FLI1 		Fli-1 proto-oncogene, ETS transcription factor 0.468 0.692 0.99
CUI: C0426816
Disease: Absence of rib
Absence of rib 		phenotype 0.100 None 0 0
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0426816
Disease: Absence of rib
Absence of rib 		phenotype 0.100 None 0 0
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5 		WASH complex subunit 5 0.572 0.615 8.3E-18
CUI: C0426816
Disease: Absence of rib
Absence of rib 		phenotype 0.100 None 0 0