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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 strong 1 0 1994 1994
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: 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: 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: 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: 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: 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
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