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: 51412
Gene Symbol: ACTL6B
ACTL6B
actin like 6B 0.656 0.462 2.8E-04
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 113179
Gene Symbol: ADAT3
ADAT3
adenosine deaminase tRNA specific 3 0.736 0.385 5.6E-03
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.110 None 1.000 0 1 2016 2016
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
adhesion G protein-coupled receptor G1 0.590 0.654 5.3E-10
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1
Entrez Id: 65117
Gene Symbol: RSRC2
RSRC2
arginine and serine rich coiled-coil 2 0.769 0.308 1.00
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 1.000 2 1 2012 2015
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 3
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: 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: 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: 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: 253738
Gene Symbol: EBF3
EBF3
EBF transcription factor 3 0.595 0.731 1.00
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.110 None 1.000 1 1 2017 2017
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
euchromatic histone lysine methyltransferase 1 0.460 0.808 1.00
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: 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: 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: 2782
Gene Symbol: GNB1
GNB1
G protein subunit beta 1 0.617 0.731 1.00
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 1.000 1 4 2016 2016
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: 51053
Gene Symbol: GMNN
GMNN
geminin DNA replication inhibitor 0.554 0.808 0.11
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 1.000 1 1 2015 2015
Entrez Id: 5859
Gene Symbol: QARS1
QARS1
glutaminyl-tRNA synthetase 1 0.716 0.231 2.7E-13
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 2
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: 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: 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: 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: 64135
Gene Symbol: IFIH1
IFIH1
interferon induced with helicase C domain 1 0.471 0.808 7.0E-44
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1