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: 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: 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: 3423
Gene Symbol: IDS
IDS
iduronate 2-sulfatase 0.616 0.655 0.94
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 strong 0 0
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.388 0.759 1.00
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 strong 0 0
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
GDP-mannose pyrophosphorylase B 0.645 0.345 5.1E-07
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 limited 0 0
Entrez Id: 10535
Gene Symbol: RNASEH2A
RNASEH2A
ribonuclease H2 subunit A 0.696 0.379 3.5E-03
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 limited 0 0
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: 1605
Gene Symbol: DAG1
DAG1
dystroglycan 1 0.522 0.655 0.97
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 strong 0 0
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: 28962
Gene Symbol: OSTM1
OSTM1
osteopetrosis associated transmembrane protein 1 0.799 0.138 6.0E-02
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 strong 0 0
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
fragile X mental retardation 1 0.492 0.690 0.69
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.300 strong 0 0
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
nuclear receptor binding SET domain protein 1 0.546 0.655 1.00
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.300 strong 0 0
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
twist family bHLH transcription factor 1 0.464 0.759 0.36
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.300 strong 0 0
Entrez Id: 7276
Gene Symbol: TTR
TTR
transthyretin 0.471 0.897 0.55
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.300 limited 0 0
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: 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: 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: 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: 26137
Gene Symbol: ZBTB20
ZBTB20
zinc finger and BTB domain containing 20 0.596 0.621 0.98
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 strong 1 0 2015 2015
Entrez Id: 6913
Gene Symbol: TBX15
TBX15
T-box 15 0.633 0.483 0.71
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 limited 1 0 2009 2009
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: 7473
Gene Symbol: WNT3
WNT3
Wnt family member 3 0.567 0.655 0.89
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 moderate 1 0 2004 2004
Entrez Id: 7546
Gene Symbol: ZIC2
ZIC2
Zic family member 2 0.607 0.586 0.98
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 strong 1 0 2010 2010