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: 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: 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
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: 23036
Gene Symbol: ZNF292
ZNF292
zinc finger protein 292 0.695 0.423 1.00
CUI: C0027092
Disease: Myopia
Myopia
disease 0.100 None 0 1
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: 23126
Gene Symbol: POGZ
POGZ
pogo transposable element derived with ZNF domain 0.599 0.577 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: 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
Entrez Id: 29888
Gene Symbol: STRN4
STRN4
striatin 4 0.792 0.346 0.99
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: 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: 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: 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: 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: 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: 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: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
TTN antisense RNA 1 0.599 0.577
CUI: C0027092
Disease: Myopia
Myopia
disease 0.100 None 0 2