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: 1545
Gene Symbol: CYP1B1
CYP1B1
cytochrome P450 family 1 subfamily B member 1 0.457 0.769 2.2E-05
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos
disease 0.500 None 1.000 0 0 1995 2019
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1
forkhead box C1 0.483 0.846 0.95
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos
disease 0.200 None 1.000 0 0 2000 2019
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
paired like homeodomain 2 0.489 0.808 0.98
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos
disease 0.140 None 1.000 0 0 1998 2019
Entrez Id: 4952
Gene Symbol: OCRL
OCRL
OCRL inositol polyphosphate-5-phosphatase 0.553 0.731 1.00
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos
disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
paired box 6 0.450 0.769 1.00
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos
disease 0.110 None 1.000 0 0 2010 2010
Entrez Id: 92949
Gene Symbol: ADAMTSL1
ADAMTSL1
ADAMTS like 1 0.682 0.654 3.1E-12
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos
disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 2530
Gene Symbol: FUT8
FUT8
fucosyltransferase 8 0.603 0.692 9.9E-03
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 285590
Gene Symbol: SH3PXD2B
SH3PXD2B
SH3 and PX domains 2B 0.631 0.577 4.2E-03
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 54892
Gene Symbol: NCAPG2
NCAPG2
non-SMC condensin II complex subunit G2 0.603 0.731 0.98
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos
disease 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: C0020302
Disease: Hydrophthalmos
Hydrophthalmos
disease 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos
disease 0.100 None 0 0
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1
pyrroline-5-carboxylate reductase 1 0.570 0.654 2.0E-04
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos
disease 0.100 None 0 0
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
interferon induced with helicase C domain 1 0.471 0.808 7.0E-44
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos
disease 0.100 None 0 0
Entrez Id: 6736
Gene Symbol: SRY
SRY
sex determining region Y 0.456 0.808
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos
disease 0.100 None 0 0
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
twist family bHLH transcription factor 1 0.397 0.846 0.34
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos
disease 0.100 None 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.513 0.731 9.8E-06
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos
disease 0.100 None 0 0
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B
ribonuclease H2 subunit B 0.595 0.615 3.3E-09
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos
disease 0.100 None 0 0
Entrez Id: 84153
Gene Symbol: RNASEH2C
RNASEH2C
ribonuclease H2 subunit C 0.590 0.731 5.5E-03
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos
disease 0.100 None 0 0
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
LARGE xylosyl- and glucuronyltransferase 1 0.526 0.654 0.99
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos
disease 0.100 None 0 0
Entrez Id: 4081
Gene Symbol: MAB21L1
MAB21L1
mab-21 like 1 0.736 0.192 0.29
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos
disease 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2
protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos
disease 0.100 None 0 0
Entrez Id: 10535
Gene Symbol: RNASEH2A
RNASEH2A
ribonuclease H2 subunit A 0.592 0.692 4.2E-03
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos
disease 0.100 None 0 0
Entrez Id: 10585
Gene Symbol: POMT1
POMT1
protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos
disease 0.100 None 0 0
Entrez Id: 11277
Gene Symbol: TREX1
TREX1
three prime repair exonuclease 1 0.517 0.808 0.58
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos
disease 0.100 None 0 0
Entrez Id: 124583
Gene Symbol: CANT1
CANT1
calcium activated nucleotidase 1 0.619 0.731 2.5E-06
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos
disease 0.100 None 0 0