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: 5832
Gene Symbol: ALDH18A1
ALDH18A1
aldehyde dehydrogenase 18 family member A1 0.551 0.769 8.1E-04
CUI: C0027092
Disease: Myopia
Myopia
disease 0.100 None 0 1
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0027092
Disease: Myopia
Myopia
disease 0.100 None 0 2
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
bromodomain PHD finger transcription factor 0.560 0.769 1.00
CUI: C0027092
Disease: Myopia
Myopia
disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0027092
Disease: Myopia
Myopia
disease 0.100 None 0 1
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
calcium voltage-gated channel subunit alpha1 F 0.595 0.500 1.2E-05
CUI: C0027092
Disease: Myopia
Myopia
disease 0.120 None 1.000 0 1 2007 2017
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
cyclin dependent kinase 13 0.606 0.692 0.91
CUI: C0027092
Disease: Myopia
Myopia
disease 0.100 None 0 1
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0027092
Disease: Myopia
Myopia
disease 0.100 None 0 1
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C0027092
Disease: Myopia
Myopia
disease 0.110 None 1.000 0 1 2018 2018
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0027092
Disease: Myopia
Myopia
disease 0.420 None 1.000 0 1 2007 2012
Entrez Id: 1286
Gene Symbol: COL4A4
COL4A4
collagen type IV alpha 4 chain 0.644 0.500 6.7E-16
CUI: C0027092
Disease: Myopia
Myopia
disease 0.100 None 0 2
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
collagen type VI alpha 1 chain 0.587 0.731 1.00
CUI: C0027092
Disease: Myopia
Myopia
disease 0.100 None 0 1
Entrez Id: 79631
Gene Symbol: EFL1
EFL1
elongation factor like GTPase 1 0.638 0.577 5.1E-08
CUI: C0027092
Disease: Myopia
Myopia
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: C0027092
Disease: Myopia
Myopia
disease 0.100 None 0 1
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
exocyst complex component 6B 0.682 0.577 0.12
CUI: C0027092
Disease: Myopia
Myopia
disease 0.100 None 1.000 2 1 2013 2014
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C0027092
Disease: Myopia
Myopia
disease 0.130 None 0.667 0 4 2011 2018
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.513 0.731 9.8E-06
CUI: C0027092
Disease: Myopia
Myopia
disease 0.100 None 0 2
Entrez Id: 2312
Gene Symbol: FLG
FLG
filaggrin 0.525 0.846 2.9E-04
CUI: C0027092
Disease: Myopia
Myopia
disease 0.100 None 0 1
Entrez Id: 339400
Gene Symbol: FLG-AS1
FLG-AS1
FLG antisense RNA 1 0.700 0.538
CUI: C0027092
Disease: Myopia
Myopia
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: C0027092
Disease: Myopia
Myopia
disease 0.100 None 0 1
Entrez Id: 182
Gene Symbol: JAG1
JAG1
jagged canonical Notch ligand 1 0.429 0.808 1.00
CUI: C0027092
Disease: Myopia
Myopia
disease 0.100 None 0 1
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1
laminin subunit alpha 1 0.582 0.808 3.2E-32
CUI: C0027092
Disease: Myopia
Myopia
disease 0.110 None 1.000 0 1 2016 2016
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
MAGE family member L2 0.560 0.654 0.98
CUI: C0027092
Disease: Myopia
Myopia
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: C0027092
Disease: Myopia
Myopia
disease 0.100 None 0 2
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0027092
Disease: Myopia
Myopia
disease 0.100 None 0 1
Entrez Id: 4629
Gene Symbol: MYH11
MYH11
myosin heavy chain 11 0.528 0.731 0.77
CUI: C0027092
Disease: Myopia
Myopia
disease 0.100 None 0 1