Source: HPO

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: 94
Gene Symbol: ACVRL1
ACVRL1
activin A receptor like type 1 0.493 0.769 9.7E-04
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype 0.100 None 0 0
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype 0.100 None 0 0
Entrez Id: 54507
Gene Symbol: ADAMTSL4
ADAMTSL4
ADAMTS like 4 0.656 0.577 2.6E-28
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype 0.100 None 0 0
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1
adaptor related protein complex 4 subunit beta 1 0.631 0.654 1.3E-09
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype 0.100 None 0 0
Entrez Id: 23431
Gene Symbol: AP4E1
AP4E1
adaptor related protein complex 4 subunit epsilon 1 0.656 0.385 2.8E-03
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype 0.100 None 0 0
Entrez Id: 9179
Gene Symbol: AP4M1
AP4M1
adaptor related protein complex 4 subunit mu 1 0.638 0.500 4.5E-17
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype 0.100 None 0 0
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1
adaptor related protein complex 4 subunit sigma 1 0.674 0.385 1.7E-06
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype 0.100 None 0 0
Entrez Id: 26229
Gene Symbol: B3GAT3
B3GAT3
beta-1,3-glucuronyltransferase 3 0.621 0.538 2.7E-08
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype 0.100 None 0 0
Entrez Id: 9469
Gene Symbol: CHST3
CHST3
carbohydrate sulfotransferase 3 0.517 0.846 7.2E-03
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype 0.100 None 0 0
Entrez Id: 1123
Gene Symbol: CHN1
CHN1
chimerin 1 0.573 0.615 3.1E-02
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype 0.100 None 0 0
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype 0.100 None 0 0
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1
collagen type IX alpha 1 chain 0.566 0.731 3.1E-19
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype 0.100 None 0 0
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2
collagen type IX alpha 2 chain 0.572 0.769 1.0E-08
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype 0.100 None 0 0
Entrez Id: 1299
Gene Symbol: COL9A3
COL9A3
collagen type IX alpha 3 chain 0.569 0.769 3.3E-12
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype 0.100 None 0 0
Entrez Id: 84570
Gene Symbol: COL25A1
COL25A1
collagen type XXV alpha 1 chain 0.599 0.538 1.6E-18
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype 0.100 None 0 0
Entrez Id: 708
Gene Symbol: C1QBP
C1QBP
complement C1q binding protein 0.569 0.692 2.0E-07
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype 0.100 None 0 0
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA
crystallin alpha A 0.653 0.385 0.17
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype 0.100 None 0 0
Entrez Id: 1420
Gene Symbol: CRYGC
CRYGC
crystallin gamma C 0.612 0.577 6.1E-04
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype 0.100 None 0 0
Entrez Id: 875
Gene Symbol: CBS
CBS
cystathionine beta-synthase 0.465 0.885 3.1E-05
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype 0.100 None 0 0
Entrez Id: 1349
Gene Symbol: COX7B
COX7B
cytochrome c oxidase subunit 7B 0.595 0.654 0.67
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype 0.100 None 0 0
Entrez Id: 1804
Gene Symbol: DPP6
DPP6
dipeptidyl peptidase like 6 0.603 0.692 0.34
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype 0.100 None 0 0
Entrez Id: 2022
Gene Symbol: ENG
ENG
endoglin 0.446 0.846 1.00
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype 0.100 None 0 0
Entrez Id: 2077
Gene Symbol: ERF
ERF
ETS2 repressor factor 0.572 0.654 0.99
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype 0.100 None 0 0
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype 0.100 None 0 0