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: 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
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.341 0.897 1.00
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 strong 1 0 2012 2012
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: 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: 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: 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: 4893
Gene Symbol: NRAS
NRAS
NRAS proto-oncogene, GTPase 0.420 0.690 0.53
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.300 limited 1 0 2008 2008
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.435 0.759 1.00
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 strong 1 0 2010 2010
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: 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: 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: 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: 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: 2737
Gene Symbol: GLI3
GLI3
GLI family zinc finger 3 0.485 0.724 1.00
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.300 strong 1 0 2015 2015
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: 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: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.512 0.690 1.00
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 strong 1 0 2013 2013
Entrez Id: 10682
Gene Symbol: EBP
EBP
EBP, cholestenol delta-isomerase 0.512 0.793 0.94
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 moderate 1 0 2011 2011
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.514 0.586 6.3E-05
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 strong 2 0 2004 2011
Entrez Id: 894
Gene Symbol: CCND2
CCND2
cyclin D2 0.519 0.655 0.99
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 strong 1 0 2014 2014
Entrez Id: 2187
Gene Symbol: FANCB
FANCB
FA complementation group B 0.520 0.586 1.00
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.410 strong 1.000 2 0 2004 2012
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: 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: 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