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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 2670
Gene Symbol: GFAP
GFAP
glial fibrillary acidic protein 0.484 0.759 1.2E-06
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 strong 1 0 2002 2002
Entrez Id: 285362
Gene Symbol: SUMF1
SUMF1
sulfatase modifying factor 1 0.642 0.448 2.6E-08
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 strong 2 0 2003 2003
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: 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: 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: 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: 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: 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