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: 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: 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: 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: 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: 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: 55023
Gene Symbol: PHIP
PHIP 		pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C0027092
Disease: Myopia
Myopia 		disease 0.100 None 0 3
Entrez Id: 54820
Gene Symbol: NDE1
NDE1 		nudE neurodevelopment protein 1 0.608 0.462 6.7E-03
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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