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: 284217
Gene Symbol: LAMA1
LAMA1
laminin subunit alpha 1 0.582 0.808 3.2E-32
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype 0.100 None 0 0
Entrez Id: 261734
Gene Symbol: NPHP4
NPHP4
nephrocystin 4 0.674 0.423 1.7E-29
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: 23556
Gene Symbol: PIGN
PIGN
phosphatidylinositol glycan anchor biosynthesis class N 0.558 0.615 2.3E-21
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: 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: 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: 84695
Gene Symbol: LOXL3
LOXL3
lysyl oxidase like 3 0.666 0.462 2.7E-13
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: 10381
Gene Symbol: TUBB3
TUBB3
tubulin beta 3 class III 0.486 0.808 2.6E-10
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype 0.100 None 0 0
Entrez Id: 2058
Gene Symbol: EPRS1
EPRS1
glutamyl-prolyl-tRNA synthetase 1 0.644 0.538 1.0E-09
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: 54681
Gene Symbol: P4HTM
P4HTM
prolyl 4-hydroxylase, transmembrane 0.666 0.500 3.9E-09
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: 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: 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: 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: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype 0.110 None 1.000 0 0 2006 2006
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: 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: 3982
Gene Symbol: LIM2
LIM2
lens intrinsic membrane protein 2 0.716 0.423 6.8E-04
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype 0.100 None 0 0
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: 2658
Gene Symbol: GDF2
GDF2
growth differentiation factor 2 0.529 0.731 2.5E-03
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: 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