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: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0014877
Disease: Esotropia
Esotropia
disease 0.100 None 1.000 3 1 2011 2015
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0014877
Disease: Esotropia
Esotropia
disease 0.100 None 1.000 2 1 2012 2015
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
solute carrier family 35 member A2 0.525 0.808 0.72
CUI: C0014877
Disease: Esotropia
Esotropia
disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
GATA zinc finger domain containing 2B 0.593 0.654 1.00
CUI: C0014877
Disease: Esotropia
Esotropia
disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 100528021
Gene Symbol: ST20-MTHFS
ST20-MTHFS
ST20-MTHFS readthrough 0.805 0.115 7.6E-03
CUI: C0014877
Disease: Esotropia
Esotropia
disease 0.100 None 0 2
Entrez Id: 4361
Gene Symbol: MRE11
MRE11
MRE11 homolog, double strand break repair nuclease 0.527 0.808 1.3E-12
CUI: C0014877
Disease: Esotropia
Esotropia
disease 0.100 None 0 1
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
phosphomannomutase 2 0.535 0.769 1.4E-17
CUI: C0014877
Disease: Esotropia
Esotropia
disease 0.100 None 0 2
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
MAGE family member L2 0.560 0.654 0.98
CUI: C0014877
Disease: Esotropia
Esotropia
disease 0.100 None 0 1
Entrez Id: 57479
Gene Symbol: PRR12
PRR12
proline rich 12 0.716 0.385 1.00
CUI: C0014877
Disease: Esotropia
Esotropia
disease 0.100 None 0 1
Entrez Id: 5813
Gene Symbol: PURA
PURA
purine rich element binding protein A 0.644 0.500 0.94
CUI: C0014877
Disease: Esotropia
Esotropia
disease 0.100 None 0 1
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
interferon regulatory factor 2 binding protein like 0.631 0.462 0.84
CUI: C0014877
Disease: Esotropia
Esotropia
disease 0.100 None 0 1
Entrez Id: 6786
Gene Symbol: STIM1
STIM1
stromal interaction molecule 1 0.501 0.808 0.78
CUI: C0014877
Disease: Esotropia
Esotropia
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: C0014877
Disease: Esotropia
Esotropia
disease 0.100 None 0 1
Entrez Id: 79876
Gene Symbol: UBA5
UBA5
ubiquitin like modifier activating enzyme 5 0.582 0.731 2.5E-04
CUI: C0014877
Disease: Esotropia
Esotropia
disease 0.100 None 0 2
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C0014877
Disease: Esotropia
Esotropia
disease 0.100 None 0 1
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP
mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C0014877
Disease: Esotropia
Esotropia
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: C0014877
Disease: Esotropia
Esotropia
disease 0.100 None 0 1
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
GDP-mannose pyrophosphorylase B 0.578 0.538 8.4E-07
CUI: C0014877
Disease: Esotropia
Esotropia
disease 0.100 None 0 2
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
CUI: C0014877
Disease: Esotropia
Esotropia
disease 0.100 None 0 2
Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
solute carrier family 9 member A6 0.516 0.846 1.00
CUI: C0014877
Disease: Esotropia
Esotropia
disease 0.100 None 0 1
Entrez Id: 10588
Gene Symbol: MTHFS
MTHFS
methenyltetrahydrofolate synthetase 0.678 0.500 2.6E-04
CUI: C0014877
Disease: Esotropia
Esotropia
disease 0.100 None 0 2
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C0014877
Disease: Esotropia
Esotropia
disease 0.100 None 0 1
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X
DEAD-box helicase 3 X-linked 0.537 0.769 1.00
CUI: C0014877
Disease: Esotropia
Esotropia
disease 0.100 None 0 1
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
DNA methyltransferase 3 alpha 0.445 0.846 7.4E-39
CUI: C0014877
Disease: Esotropia
Esotropia
disease 0.100 None 0 1
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
forkhead box G1 0.522 0.692 0.94
CUI: C0014877
Disease: Esotropia
Esotropia
disease 0.100 None 0 2