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: 727857
Gene Symbol: BHLHA9
BHLHA9 		basic helix-loop-helix family member a9 0.644 0.269 0.30
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		disease 0.100 None 0 3
Entrez Id: 64327
Gene Symbol: LMBR1
LMBR1 		limb development membrane protein 1 0.619 0.308 1.3E-08
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		disease 0.100 None 0 0
Entrez Id: 22854
Gene Symbol: NTNG1
NTNG1 		netrin G1 0.650 0.423 0.92
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		disease 0.100 None 0 0
Entrez Id: 285203
Gene Symbol: EOGT
EOGT 		EGF domain specific O-linked N-acetylglucosamine transferase 0.641 0.500 5.0E-09
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		disease 0.100 None 0 0
Entrez Id: 9568
Gene Symbol: GABBR2
GABBR2 		gamma-aminobutyric acid type B receptor subunit 2 0.650 0.538 1.00
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		disease 0.100 None 0 0
Entrez Id: 285590
Gene Symbol: SH3PXD2B
SH3PXD2B 		SH3 and PX domains 2B 0.631 0.577 4.2E-03
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		disease 0.100 None 0 0
Entrez Id: 57572
Gene Symbol: DOCK6
DOCK6 		dedicator of cytokinesis 6 0.610 0.577 1.3E-26
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		disease 0.100 None 0 0
Entrez Id: 157570
Gene Symbol: ESCO2
ESCO2 		establishment of sister chromatid cohesion N-acetyltransferase 2 0.581 0.615 3.2E-07
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		disease 0.100 None 0 0
Entrez Id: 4796
Gene Symbol: TONSL
TONSL 		tonsoku like, DNA repair protein 0.653 0.615 2.6E-13
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		disease 0.100 None 0 0
Entrez Id: 57514
Gene Symbol: ARHGAP31
ARHGAP31 		Rho GTPase activating protein 31 0.581 0.615 1.00
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		disease 0.100 None 0 0
Entrez Id: 9791
Gene Symbol: PTDSS1
PTDSS1 		phosphatidylserine synthase 1 0.610 0.615 0.15
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		disease 0.100 None 0 0
Entrez Id: 51763
Gene Symbol: INPP5K
INPP5K 		inositol polyphosphate-5-phosphatase K 0.587 0.654 4.2E-05
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		disease 0.100 None 0 0
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		disease 0.100 None 0 0
Entrez Id: 1836
Gene Symbol: SLC26A2
SLC26A2 		solute carrier family 26 member 2 0.553 0.692 7.5E-07
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		disease 0.100 None 0 0
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1 		forkhead box G1 0.522 0.692 0.94
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		disease 0.100 None 0 0
Entrez Id: 4038
Gene Symbol: LRP4
LRP4 		LDL receptor related protein 4 0.568 0.692 1.4E-06
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		disease 0.100 None 0 0
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5 		cyclin dependent kinase like 5 0.522 0.692 1.00
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		disease 0.100 None 0 0
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1 		syntaxin binding protein 1 0.532 0.692 1.00
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		disease 0.100 None 0 0
Entrez Id: 8195
Gene Symbol: MKKS
MKKS 		McKusick-Kaufman syndrome 0.566 0.692 2.1E-09
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		disease 0.100 None 0 0
Entrez Id: 1186
Gene Symbol: CLCN7
CLCN7 		chloride voltage-gated channel 7 0.590 0.731 0.27
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		disease 0.100 None 0 0
Entrez Id: 29957
Gene Symbol: SLC25A24
SLC25A24 		solute carrier family 25 member 24 0.575 0.731 3.4E-12
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		disease 0.100 None 0 0
Entrez Id: 64374
Gene Symbol: SIL1
SIL1 		SIL1 nucleotide exchange factor 0.584 0.731 1.2E-02
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		disease 0.100 None 0 0
Entrez Id: 54567
Gene Symbol: DLL4
DLL4 		delta like canonical Notch ligand 4 0.494 0.769 1.00
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		disease 0.100 None 0 0
Entrez Id: 6595
Gene Symbol: SMARCA2
SMARCA2 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 0.527 0.769 1.00
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		disease 0.100 None 0 0
Entrez Id: 6910
Gene Symbol: TBX5
TBX5 		T-box transcription factor 5 0.528 0.769 1.00
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		disease 0.100 None 0 0