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: 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: 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: 5894
Gene Symbol: RAF1
RAF1
Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
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: 5604
Gene Symbol: MAP2K1
MAP2K1
mitogen-activated protein kinase kinase 1 0.439 0.846 0.90
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 1.000 7 1 2006 2009
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: 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: 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: 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: 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
Entrez Id: 7299
Gene Symbol: TYR
TYR
tyrosinase 0.473 0.808 5.0E-32
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 2
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: 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: 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: 7507
Gene Symbol: XPA
XPA
XPA, DNA damage recognition and repair factor 0.520 0.846 7.9E-05
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: 7355
Gene Symbol: SLC35A2
SLC35A2
solute carrier family 35 member A2 0.525 0.808 0.72
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 1.000 1 1 2019 2019
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
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
Ras like without CAAX 1 0.527 0.808 0.13
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 1
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: 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: 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: 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: 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: 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