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: 3897
Gene Symbol: L1CAM
L1CAM
L1 cell adhesion molecule 0.475 0.769 1.00
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis
disease 0.140 None 1.000 0 0 2001 2019
Entrez Id: 10262
Gene Symbol: SF3B4
SF3B4
splicing factor 3b subunit 4 0.576 0.615 0.99
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis
disease 0.100 None 0 0
Entrez Id: 9723
Gene Symbol: SEMA3E
SEMA3E
semaphorin 3E 0.515 0.769 8.7E-09
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis
disease 0.100 None 0 0
Entrez Id: 84942
Gene Symbol: WDR73
WDR73
WD repeat domain 73 0.610 0.500 2.8E-09
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis
disease 0.100 None 0 0
Entrez Id: 8270
Gene Symbol: LAGE3
LAGE3
L antigen family member 3 0.670 0.462 0.13
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis
disease 0.100 None 0 0
Entrez Id: 57122
Gene Symbol: NUP107
NUP107
nucleoporin 107 0.595 0.500 2.6E-09
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis
disease 0.100 None 0 0
Entrez Id: 55746
Gene Symbol: NUP133
NUP133
nucleoporin 133 0.678 0.577 9.3E-05
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis
disease 0.100 None 0 0
Entrez Id: 55644
Gene Symbol: OSGEP
OSGEP
O-sialoglycoprotein endopeptidase 0.626 0.615 7.1E-08
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis
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: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis
disease 0.100 None 0 0
Entrez Id: 51002
Gene Symbol: TPRKB
TPRKB
TP53RK binding protein 0.691 0.385 8.2E-03
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis
disease 0.100 None 0 0
Entrez Id: 4763
Gene Symbol: NF1
NF1
neurofibromin 1 0.440 0.885 0.90
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis
disease 0.100 None 0 0
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis
disease 0.100 None 0 0
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis
disease 0.100 None 0 0
Entrez Id: 2187
Gene Symbol: FANCB
FANCB
FA complementation group B 0.468 0.769 1.00
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis
disease 0.100 None 0 0
Entrez Id: 112858
Gene Symbol: TP53RK
TP53RK
TP53 regulating kinase 0.659 0.615 7.7E-04
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis
disease 0.100 None 0 0
Entrez Id: 10785
Gene Symbol: WDR4
WDR4
WD repeat domain 4 0.653 0.538 1.4E-08
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis
disease 0.100 None 0 0
Entrez Id: 9990
Gene Symbol: SLC12A6
SLC12A6
solute carrier family 12 member 6 0.603 0.500 1.1E-02
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis
disease 0.100 None 0 0