Source: CLINVAR

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: 998
Gene Symbol: CDC42
CDC42
cell division cycle 42 0.458 0.846 0.79
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 2
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
transcription factor 4 0.464 0.846 1.00
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
phosphomannomutase 2 0.535 0.769 1.4E-17
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 2
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
mediator complex subunit 13L 0.617 0.538 1.00
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1
Entrez Id: 113178
Gene Symbol: SCAMP4
SCAMP4
secretory carrier membrane protein 4 0.931 0.077 4.6E-03
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1
Entrez Id: 2581
Gene Symbol: GALC
GALC
galactosylceramidase 0.604 0.615 5.2E-15
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 2
Entrez Id: 127343
Gene Symbol: DMBX1
DMBX1
diencephalon/mesencephalon homeobox 1 0.780 0.115 0.93
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1
Entrez Id: 23126
Gene Symbol: POGZ
POGZ
pogo transposable element derived with ZNF domain 0.599 0.577 1.00
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1
Entrez Id: 23111
Gene Symbol: SPART
SPART
spartin 0.588 0.654 3.0E-07
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1
Entrez Id: 22983
Gene Symbol: MAST1
MAST1
microtubule associated serine/threonine kinase 1 0.711 0.385 1.00
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
dynein cytoplasmic 1 heavy chain 1 0.547 0.769 1.00
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1
Entrez Id: 22907
Gene Symbol: DHX30
DHX30
DExH-box helicase 30 0.722 0.500 1.00
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 2
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
forkhead box G1 0.522 0.692 0.94
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
forkhead box P1 0.460 0.808 1.00
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
GNAS complex locus 0.420 0.885 0.68
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 10
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
nuclear factor I X 0.547 0.769 1.00
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 2
Entrez Id: 374654
Gene Symbol: KIF7
KIF7
kinesin family member 7 0.528 0.731 2.3E-22
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
H3.3 histone A 0.559 0.692 0.12
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1
Entrez Id: 29911
Gene Symbol: HOOK2
HOOK2
hook microtubule tethering protein 2 0.659 0.654 4.6E-18
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1
Entrez Id: 285175
Gene Symbol: UNC80
UNC80
unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1
Entrez Id: 10585
Gene Symbol: POMT1
POMT1
protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1