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: 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: 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: 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: 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: 7299
Gene Symbol: TYR
TYR
tyrosinase 0.473 0.808 5.0E-32
CUI: C0027092
Disease: Myopia
Myopia
disease 0.110 None 1.000 0 2 2018 2018
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: 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: 7287
Gene Symbol: TULP1
TULP1
TUB like protein 1 0.623 0.462 5.7E-04
CUI: C0027092
Disease: Myopia
Myopia
disease 0.100 None 1.000 1 1 2017 2017
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: 6786
Gene Symbol: STIM1
STIM1
stromal interaction molecule 1 0.501 0.808 0.78
CUI: C0027092
Disease: Myopia
Myopia
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: C0027092
Disease: Myopia
Myopia
disease 0.100 None 0 1
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
transcription factor 4 0.464 0.846 1.00
CUI: C0027092
Disease: Myopia
Myopia
disease 0.100 None 0 1
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
transforming growth factor beta receptor 1 0.451 0.885 0.85
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: 5888
Gene Symbol: RAD51
RAD51
RAD51 recombinase 0.447 0.846 2.7E-02
CUI: C0027092
Disease: Myopia
Myopia
disease 0.100 None 0 1
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: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
CUI: C0027092
Disease: Myopia
Myopia
disease 0.100 None 0 2
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: 7399
Gene Symbol: USH2A
USH2A
usherin 0.579 0.692 1.6E-94
CUI: C0027092
Disease: Myopia
Myopia
disease 0.100 None 0 1
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: 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: 81603
Gene Symbol: TRIM8
TRIM8
tripartite motif containing 8 0.588 0.731 0.99
CUI: C0027092
Disease: Myopia
Myopia
disease 0.100 None 0 1
Entrez Id: 84231
Gene Symbol: TRAF7
TRAF7
TNF receptor associated factor 7 0.623 0.423 2.2E-02
CUI: C0027092
Disease: Myopia
Myopia
disease 0.100 None 0 1
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