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: 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: 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: 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: 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: 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: 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: 92335
Gene Symbol: STRADA
STRADA
STE20-related kinase adaptor alpha 0.701 0.379 2.4E-05
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.300 strong 3 0 2007 2018
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: 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: 8777
Gene Symbol: MPDZ
MPDZ
multiple PDZ domain crumbs cell polarity complex component 0.645 0.310 1.2E-37
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 moderate 2 0 2013 2017
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
glucuronidase beta 0.619 0.655 1.2E-07
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 strong 2 0 2003 2003
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
notch 2 0.474 0.724 1.00
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 limited 2 0 2011 2012
Entrez Id: 51684
Gene Symbol: SUFU
SUFU
SUFU negative regulator of hedgehog signaling 0.565 0.621 1.00
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 strong 2 0 2009 2015
Entrez Id: 51256
Gene Symbol: TBC1D7
TBC1D7
TBC1 domain family member 7 0.773 0.241 1.5E-11
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.300 moderate 2 0 2014 2015
Entrez Id: 5296
Gene Symbol: PIK3R2
PIK3R2
phosphoinositide-3-kinase regulatory subunit 2 0.594 0.655 1.3E-02
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 strong 2 0 2012 2015
Entrez Id: 10013
Gene Symbol: HDAC6
HDAC6
histone deacetylase 6 0.562 0.690 1.00
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 moderate 2 0 2005 2010
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3
Zic family member 3 0.600 0.448 0.93
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 strong 2 0 2010 2011
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
ribosomal protein S6 kinase A3 0.541 0.759 1.00
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.300 strong 2 0 1997 2006
Entrez Id: 29887
Gene Symbol: SNX10
SNX10
sorting nexin 10 0.685 0.517 4.2E-09
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 strong 2 0 2012 2013
Entrez Id: 23258
Gene Symbol: DENND5A
DENND5A
DENN domain containing 5A 0.886 0.034 3.6E-02
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.300 strong 2 0 2017 2017
Entrez Id: 10678
Gene Symbol: B3GNT2
B3GNT2
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 0.720 0.414 0.85
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.300 moderate 2 0 2013 2014
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: 2009
Gene Symbol: EML1
EML1
echinoderm microtubule associated protein like 1 0.720 0.379 1.00
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.300 strong 2 0 2014 2017
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