Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0027092
Disease: Myopia
Myopia
0.420 CausalMutation CLINVAR

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0027092
Disease: Myopia
Myopia
0.130 CausalMutation CLINVAR

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0027092
Disease: Myopia
Myopia
0.130 GeneticVariation CLINVAR

Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
CUI: C0027092
Disease: Myopia
Myopia
0.120 GeneticVariation CLINVAR

Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
CUI: C0027092
Disease: Myopia
Myopia
0.110 GeneticVariation CLINVAR

Entrez Id: 7299
Gene Symbol: TYR
TYR
CUI: C0027092
Disease: Myopia
Myopia
0.110 CausalMutation CLINVAR

Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1
CUI: C0027092
Disease: Myopia
Myopia
0.110 CausalMutation CLINVAR

Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0027092
Disease: Myopia
Myopia
0.100 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017

Entrez Id: 7287
Gene Symbol: TULP1
TULP1
CUI: C0027092
Disease: Myopia
Myopia
0.100 CausalMutation CLINVAR Antioxidant effect of aqueous extract of four plants with therapeutic potential on gynecological diseases; Semen persicae, Leonurus cardiaca, Hedyotis diffusa, and Curcuma zedoaria. 29178942

2017

Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
CUI: C0027092
Disease: Myopia
Myopia
0.100 GeneticVariation CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811

2014

Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
CUI: C0027092
Disease: Myopia
Myopia
0.100 GeneticVariation CLINVAR Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation. 23422942

2013

Entrez Id: 84231
Gene Symbol: TRAF7
TRAF7
CUI: C0027092
Disease: Myopia
Myopia
0.100 CausalMutation CLINVAR

Entrez Id: 55023
Gene Symbol: PHIP
PHIP
CUI: C0027092
Disease: Myopia
Myopia
0.100 CausalMutation CLINVAR

Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C0027092
Disease: Myopia
Myopia
0.100 CausalMutation CLINVAR

Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0027092
Disease: Myopia
Myopia
0.100 CausalMutation CLINVAR

Entrez Id: 55023
Gene Symbol: PHIP
PHIP
CUI: C0027092
Disease: Myopia
Myopia
0.100 GeneticVariation CLINVAR

Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0027092
Disease: Myopia
Myopia
0.100 CausalMutation CLINVAR

Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C0027092
Disease: Myopia
Myopia
0.100 CausalMutation CLINVAR

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0027092
Disease: Myopia
Myopia
0.100 GeneticVariation CLINVAR

Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C0027092
Disease: Myopia
Myopia
0.100 CausalMutation CLINVAR

Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0027092
Disease: Myopia
Myopia
0.100 GeneticVariation CLINVAR

Entrez Id: 23036
Gene Symbol: ZNF292
ZNF292
CUI: C0027092
Disease: Myopia
Myopia
0.100 GeneticVariation CLINVAR

Entrez Id: 339400
Gene Symbol: FLG-AS1
FLG-AS1
CUI: C0027092
Disease: Myopia
Myopia
0.100 CausalMutation CLINVAR

Entrez Id: 6786
Gene Symbol: STIM1
STIM1
CUI: C0027092
Disease: Myopia
Myopia
0.100 GeneticVariation CLINVAR

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0027092
Disease: Myopia
Myopia
0.100 CausalMutation CLINVAR