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: 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: 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: 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: 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: 3008
Gene Symbol: H1-4
H1-4
H1.4 linker histone, cluster member 0.682 0.385 0.19
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: 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: 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: 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: 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: 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: 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: 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: 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: 10352
Gene Symbol: WARS2
WARS2
tryptophanyl tRNA synthetase 2, mitochondrial 0.617 0.577 5.1E-02
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: 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: 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: 23347
Gene Symbol: SMCHD1
SMCHD1
structural maintenance of chromosomes flexible hinge domain containing 1 0.631 0.615 1.00
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: 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: 10730
Gene Symbol: YME1L1
YME1L1
YME1 like 1 ATPase 0.633 0.654 2.9E-02
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: 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: 1130
Gene Symbol: LYST
LYST
lysosomal trafficking regulator 0.621 0.692 1.5E-02
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype 0.100 None 0 0