Source: GENOMICS_ENGLAND

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: 84197
Gene Symbol: POMK
POMK
protein-O-mannose kinase 0.616 0.414 2.5E-08
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.600 strong 2 0 2013 2014
Entrez Id: 440193
Gene Symbol: CCDC88C
CCDC88C
coiled-coil domain containing 88C 0.663 0.276 4.9E-08
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.600 strong 2 0 2010 2013
Entrez Id: 729920
Gene Symbol: ISPD
ISPD
isoprenoid synthase domain containing 0.582 0.483 9.0E-04
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.600 strong 1 0 2012 2012
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
L1 cell adhesion molecule 0.500 0.655 1.00
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.500 strong 0.933 2 0 1994 2014
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.334 0.828 0.82
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.410 strong 1.000 3 0 2002 2013
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.398 0.759 1.00
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.410 strong 1.000 2 0 1995 2015
Entrez Id: 2187
Gene Symbol: FANCB
FANCB
FA complementation group B 0.520 0.586 1.00
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.410 strong 1.000 2 0 2004 2012
Entrez Id: 4763
Gene Symbol: NF1
NF1
neurofibromin 1 0.458 0.724 1.00
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.410 strong 1.000 1 0 1983 1999
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 0.557 0.483 8.5E-20
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.410 strong 1.000 1 0 2003 2009
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2
adaptor related protein complex 1 subunit sigma 2 0.676 0.414 0.88
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.410 strong 1.000 1 0 2007 2007
Entrez Id: 148789
Gene Symbol: B3GALNT2
B3GALNT2
beta-1,3-N-acetylgalactosaminyltransferase 2 0.607 0.379 2.3E-07
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.410 strong 1.000 1 0 2013 2016
Entrez Id: 84892
Gene Symbol: POMGNT2
POMGNT2
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) 0.630 0.414 4.4E-06
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.410 strong 1.000 0 0 2012 2012
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.456 0.793 1.00
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.410 moderate 1.000 0 0 2004 2004
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
OFD1, centriole and centriolar satellite protein 0.547 0.724 0.97
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.410 limited 1.000 0 0 2009 2009
Entrez Id: 10000
Gene Symbol: AKT3
AKT3
AKT serine/threonine kinase 3 0.558 0.621 1.00
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 strong 4 0 2012 2015
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
fukutin 0.522 0.586 7.7E-07
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 strong 4 0 1998 2008
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
myotubularin 1 0.621 0.517 1.00
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 moderate 3 0 1996 2000
Entrez Id: 8643
Gene Symbol: PTCH2
PTCH2
patched 2 0.590 0.517 2.7E-16
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 moderate 3 0 1985 2014
Entrez Id: 29954
Gene Symbol: POMT2
POMT2
protein O-mannosyltransferase 2 0.558 0.552 1.4E-11
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 strong 3 0 2006 2007
Entrez Id: 5340
Gene Symbol: PLG
PLG
plasminogen 0.419 0.862 9.6E-03
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 strong 3 0 1997 2006
Entrez Id: 5528
Gene Symbol: PPP2R5D
PPP2R5D
protein phosphatase 2 regulatory subunit B'delta 0.707 0.414 1.00
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 strong 3 0 2015 2016
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
LARGE xylosyl- and glucuronyltransferase 1 0.530 0.621
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 strong 3 0 2004 2009
Entrez Id: 411
Gene Symbol: ARSB
ARSB
arylsulfatase B 0.667 0.586 8.6E-09
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 strong 3 0 1993 2002
Entrez Id: 3912
Gene Symbol: LAMB1
LAMB1
laminin subunit beta 1 0.642 0.483 2.9E-21
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 strong 2 0 2013 2015
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24
24-dehydrocholesterol reductase 0.572 0.655 3.8E-02
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 strong 2 0 2001 2012