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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 4915
Gene Symbol: NTRK2
NTRK2 		neurotrophic receptor tyrosine kinase 2 0.479 0.808 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: 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: 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: 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: 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
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
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
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: 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: 291
Gene Symbol: SLC25A4
SLC25A4 		solute carrier family 25 member 4 0.568 0.692 0.45
CUI: C0027092
Disease: Myopia
Myopia 		disease 0.100 None 0 1