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: 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: 9935
Gene Symbol: MAFB
MAFB
MAF bZIP transcription factor B 0.565 0.731 0.90
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype 0.100 None 0 0
Entrez Id: 54539
Gene Symbol: NDUFB11
NDUFB11
NADH:ubiquinone oxidoreductase subunit B11 0.566 0.692 0.80
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: 5308
Gene Symbol: PITX2
PITX2
paired like homeodomain 2 0.489 0.808 0.98
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype 0.100 None 0 0
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
paired box 6 0.450 0.769 1.00
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype 0.100 None 0 0
Entrez Id: 4952
Gene Symbol: OCRL
OCRL
OCRL inositol polyphosphate-5-phosphatase 0.553 0.731 1.00
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype 0.100 None 0 0
Entrez Id: 4935
Gene Symbol: GPR143
GPR143
G protein-coupled receptor 143 0.659 0.385 0.93
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype 0.100 None 0 0
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
SMAD family member 4 0.401 0.808 1.00
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype 0.100 None 0 0
Entrez Id: 401
Gene Symbol: PHOX2A
PHOX2A
paired like homeobox 2A 0.700 0.346 0.49
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: 3832
Gene Symbol: KIF11
KIF11
kinesin family member 11 0.560 0.769 1.00
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype 0.100 None 0 0
Entrez Id: 3052
Gene Symbol: HCCS
HCCS
holocytochrome c synthase 0.559 0.731 0.89
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: 64132
Gene Symbol: XYLT2
XYLT2
xylosyltransferase 2 0.566 0.808 0.93
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype 0.100 None 0 0
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
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: 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: 9181
Gene Symbol: ARHGEF2
ARHGEF2
Rho/Rac guanine nucleotide exchange factor 2 0.502 0.769 1.00
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: 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: 8473
Gene Symbol: OGT
OGT
O-linked N-acetylglucosamine (GlcNAc) transferase 0.626 0.731 1.00
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: 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: 80232
Gene Symbol: WDR26
WDR26
WD repeat domain 26 0.606 0.769 1.00
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype 0.100 None 0 0