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: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones
disease 0.100 None 0 0
Entrez Id: 207
Gene Symbol: AKT1
AKT1
AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones
disease 0.100 None 0 0
Entrez Id: 324
Gene Symbol: APC
APC
APC regulator of WNT signaling pathway 0.373 0.962 1.00
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: 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: 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: 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: 1717
Gene Symbol: DHCR7
DHCR7
7-dehydrocholesterol reductase 0.500 0.846 3.9E-13
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: 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: 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: 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: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones
disease 0.100 None 0 0
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.419 0.846 1.00
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones
disease 0.100 None 0 0
Entrez Id: 2317
Gene Symbol: FLNB
FLNB
filamin B 0.458 0.923 6.1E-10
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: 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: 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: 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: 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: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
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: 4851
Gene Symbol: NOTCH1
NOTCH1
notch receptor 1 0.369 0.885 1.00
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: 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