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: 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: 145173
Gene Symbol: B3GLCT
B3GLCT
beta 3-glucosyltransferase 0.580 0.621
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 strong 2 0 2006 2008
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
WASH complex subunit 5 0.602 0.621
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 strong 1 0 2014 2014
Entrez Id: 51134
Gene Symbol: CEP83
CEP83
centrosomal protein 83 0.815 0.103
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.300 strong 1 0 2014 2014
Entrez Id: 389827
Gene Symbol: MYMK
MYMK
myomaker, myoblast fusion factor 0.685 0.448
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.300 strong 1 0 2017 2017
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: 1063
Gene Symbol: CENPF
CENPF
centromere protein F 0.672 0.448 2.1E-36
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.300 strong 2 0 2016 2016
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
coiled-coil and C2 domain containing 2A 0.559 0.621 2.6E-26
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.310 strong 1.000 1 0 2012 2012
Entrez Id: 4125
Gene Symbol: MAN2B1
MAN2B1
mannosidase alpha class 2B member 1 0.656 0.517 2.7E-22
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.300 strong 1 0 1999 1999
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: 374654
Gene Symbol: KIF7
KIF7
kinesin family member 7 0.573 0.621 1.1E-20
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 moderate 1 0 2011 2011
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: 84162
Gene Symbol: KIAA1109
KIAA1109
KIAA1109 0.696 0.379 1.6E-19
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.300 strong 2 0 2015 2018
Entrez Id: 10585
Gene Symbol: POMT1
POMT1
protein O-mannosyltransferase 1 0.559 0.552 2.5E-17
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 strong 1 0 2003 2003
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: 286204
Gene Symbol: CRB2
CRB2
crumbs 2, cell polarity complex component 0.713 0.207 1.4E-14
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 strong 1 0 2015 2015
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
KIAA0586 0.659 0.517 1.2E-13
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 strong 1 0 2015 2015
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria 0.663 0.414 1.9E-13
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 limited 0 0
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: 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: 29899
Gene Symbol: GPSM2
GPSM2
G protein signaling modulator 2 0.681 0.448 6.4E-11
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 strong 1 0 2012 2012
Entrez Id: 701
Gene Symbol: BUB1B
BUB1B
BUB1 mitotic checkpoint serine/threonine kinase B 0.532 0.724 5.4E-10
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 strong 1 0 2004 2004
Entrez Id: 219844
Gene Symbol: HYLS1
HYLS1
HYLS1, centriolar and ciliogenesis associated 0.645 0.552 3.1E-09
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 strong 0 0
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: 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