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: 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: 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: 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: 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: 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: 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: 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: 55023
Gene Symbol: PHIP
PHIP
pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
syntaxin binding protein 1 0.532 0.692 1.00
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1
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: 7874
Gene Symbol: USP7
USP7
ubiquitin specific peptidase 7 0.538 0.808 1.00
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1
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: 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: 6660
Gene Symbol: SOX5
SOX5
SRY-box transcription factor 5 0.545 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: 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: 57526
Gene Symbol: PCDH19
PCDH19
protocadherin 19 0.599 0.462 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: 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: 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: 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: 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: 7020
Gene Symbol: TFAP2A
TFAP2A
transcription factor AP-2 alpha 0.488 0.769 0.99
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 1.000 1 1 2015 2015
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
MAGE family member L2 0.560 0.654 0.98
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1