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: 2683
Gene Symbol: B4GALT1
B4GALT1
beta-1,4-galactosyltransferase 1 0.674 0.538 3.7E-02
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.110 None 1.000 0 0 2002 2002
Entrez Id: 23639
Gene Symbol: LRRC6
LRRC6
leucine rich repeat containing 6 0.659 0.538 1.0E-10
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.419 0.846 1.00
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.110 None 1.000 0 0 2004 2004
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.110 None < 0.001 0 0 2015 2015
Entrez Id: 2239
Gene Symbol: GPC4
GPC4
glypican 4 0.547 0.769 0.93
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.110 None 1.000 0 0 1998 1998
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.110 None 1.000 0 0 2012 2012
Entrez Id: 84892
Gene Symbol: POMGNT2
POMGNT2
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) 0.628 0.500 5.6E-06
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.110 None 1.000 0 0 2012 2012
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
colony stimulating factor 1 receptor 0.448 0.808 0.13
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 115948
Gene Symbol: CCDC151
CCDC151
coiled-coil domain containing 151 0.659 0.577 3.5E-15
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
TSC complex subunit 2 0.439 0.808 1.00
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 10585
Gene Symbol: POMT1
POMT1
protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2
adaptor related protein complex 1 subunit sigma 2 0.631 0.615 0.87
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.110 None 1.000 0 0 2007 2007
Entrez Id: 145173
Gene Symbol: B3GLCT
B3GLCT
beta 3-glucosyltransferase 0.554 0.731 7.1E-17
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.110 None 1.000 0 0 2019 2019
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: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.110 None 1.000 0 0 2003 2003
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
kinesin family member 1A 0.559 0.692 1.00
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.100 None 0 0
Entrez Id: 54919
Gene Symbol: DNAAF5
DNAAF5
dynein axonemal assembly factor 5 0.670 0.500 8.1E-11
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.100 None 0 0
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
piezo type mechanosensitive ion channel component 2 0.529 0.769 8.1E-07
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.100 None 0 0
Entrez Id: 6347
Gene Symbol: CCL2
CCL2
C-C motif chemokine ligand 2 0.321 0.962 0.61
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.100 None 0 0
Entrez Id: 6239
Gene Symbol: RREB1
RREB1
ras responsive element binding protein 1 0.500 0.808 1.00
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.100 None 0 0
Entrez Id: 6103
Gene Symbol: RPGR
RPGR
retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
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: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.100 None 0 0
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
protein phosphatase 1 catalytic subunit beta 0.601 0.577 1.00
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.100 None 0 0
Entrez Id: 5908
Gene Symbol: RAP1B
RAP1B
RAP1B, member of RAS oncogene family 0.565 0.769 0.91
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.100 None 0 0