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: 1409
Gene Symbol: CRYAA
CRYAA
crystallin alpha A 0.653 0.385 0.17
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity
phenotype 0.110 None 1.000 0 0 2008 2008
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
paired box 6 0.450 0.769 1.00
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity
phenotype 0.100 None 0 0
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1
fermitin family member 1 0.599 0.577 2.9E-11
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity
phenotype 0.100 None 0 0
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 0.537 0.538 1.9E-20
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity
phenotype 0.100 None 0 0
Entrez Id: 55670
Gene Symbol: PEX26
PEX26
peroxisomal biogenesis factor 26 0.584 0.615 0.93
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity
phenotype 0.100 None 0 0
Entrez Id: 55768
Gene Symbol: NGLY1
NGLY1
N-glycanase 1 0.601 0.654 1.5E-13
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity
phenotype 0.100 None 0 0
Entrez Id: 57192
Gene Symbol: MCOLN1
MCOLN1
mucolipin 1 0.601 0.654 5.8E-04
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity
phenotype 0.100 None 0 0
Entrez Id: 57462
Gene Symbol: MYORG
MYORG
myogenesis regulating glycosidase (putative) 0.805 0.269 1.1E-11
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity
phenotype 0.100 None 0 0
Entrez Id: 5824
Gene Symbol: PEX19
PEX19
peroxisomal biogenesis factor 19 0.585 0.731 3.2E-04
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity
phenotype 0.100 None 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
peroxisomal biogenesis factor 2 0.582 0.654 2.6E-04
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity
phenotype 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity
phenotype 0.100 None 0 0
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
aldehyde dehydrogenase 18 family member A1 0.551 0.769 8.1E-04
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity
phenotype 0.100 None 0 0
Entrez Id: 5980
Gene Symbol: REV3L
REV3L
REV3 like, DNA directed polymerase zeta catalytic subunit 0.588 0.654 1.00
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity
phenotype 0.100 None 0 0
Entrez Id: 55210
Gene Symbol: ATAD3A
ATAD3A
ATPase family AAA domain containing 3A 0.628 0.692 4.1E-09
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity
phenotype 0.100 None 0 0
Entrez Id: 5476
Gene Symbol: CTSA
CTSA
cathepsin A 0.619 0.731 5.9E-09
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity
phenotype 0.100 None 0 0
Entrez Id: 51360
Gene Symbol: MBTPS2
MBTPS2
membrane bound transcription factor peptidase, site 2 0.513 0.769 1.00
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity
phenotype 0.100 None 0 0
Entrez Id: 5155
Gene Symbol: PDGFB
PDGFB
platelet derived growth factor subunit B 0.488 0.846 0.77
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity
phenotype 0.100 None 0 0
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity
phenotype 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity
phenotype 0.100 None 0 0
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
peroxisomal biogenesis factor 6 0.547 0.731 6.3E-06
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity
phenotype 0.100 None 0 0
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
peroxisomal biogenesis factor 10 0.584 0.654 5.4E-04
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity
phenotype 0.100 None 0 0
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
peroxisomal biogenesis factor 12 0.601 0.615 9.5E-16
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity
phenotype 0.100 None 0 0
Entrez Id: 5194
Gene Symbol: PEX13
PEX13
peroxisomal biogenesis factor 13 0.597 0.654 5.9E-05
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity
phenotype 0.100 None 0 0
Entrez Id: 5195
Gene Symbol: PEX14
PEX14
peroxisomal biogenesis factor 14 0.592 0.692 0.23
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity
phenotype 0.100 None 0 0
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1
phosphoinositide-3-kinase regulatory subunit 1 0.477 0.885 1.00
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity
phenotype 0.100 None 0 0