Source: HPO

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: 54768
Gene Symbol: HYDIN
HYDIN
HYDIN axonemal central pair apparatus protein 0.641 0.538 2.3E-24
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.630 None 1.000 0 0 1973 2013
Entrez Id: 440193
Gene Symbol: CCDC88C
CCDC88C
coiled-coil domain containing 88C 0.647 0.346 3.3E-08
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.420 None 1.000 0 0 2018 2018
Entrez Id: 894
Gene Symbol: CCND2
CCND2
cyclin D2 0.477 0.808 0.99
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 None 1.000 0 0 2018 2018
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA
CDP-L-ribitol pyrophosphorylase A 0.566 0.654 2.5E-04
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 None 1.000 0 0 2012 2012
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.320 None 1.000 0 0 2006 2019
Entrez Id: 84197
Gene Symbol: POMK
POMK
protein O-mannose kinase 0.590 0.500 1.9E-08
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.310 None 1.000 0 0 2012 2020
Entrez Id: 339829
Gene Symbol: CCDC39
CCDC39
coiled-coil domain containing 39 0.641 0.615 7.9E-12
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.310 None 1.000 0 0 2011 2018
Entrez Id: 27148
Gene Symbol: STK36
STK36
serine/threonine kinase 36 0.678 0.577 7.1E-22
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.300 None 1.000 0 0 2012 2012
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
L1 cell adhesion molecule 0.475 0.769 1.00
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.200 None 1.000 0 0 1994 2020
Entrez Id: 148789
Gene Symbol: B3GALNT2
B3GALNT2
beta-1,3-N-acetylgalactosaminyltransferase 2 0.578 0.577 2.8E-07
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.120 None 1.000 0 0 2015 2017
Entrez Id: 10309
Gene Symbol: CCNO
CCNO
cyclin O 0.621 0.538 3.5E-03
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.120 None 1.000 0 0 2016 2017
Entrez Id: 352909
Gene Symbol: DNAAF3
DNAAF3
dynein axonemal assembly factor 3 0.599 0.731 5.5E-08
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.120 None 1.000 0 0 2004 2012
Entrez Id: 2187
Gene Symbol: FANCB
FANCB
FA complementation group B 0.468 0.769 1.00
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.110 None 1.000 0 0 2011 2011
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
OFD1 centriole and centriolar satellite protein 0.510 0.808 0.96
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.110 None 1.000 0 0 2009 2009
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
FA complementation group C 0.507 0.808 2.8E-13
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.110 None 1.000 0 0 1997 1997
Entrez Id: 80781
Gene Symbol: COL18A1
COL18A1
collagen type XVIII alpha 1 chain 0.449 0.808 1.7E-10
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.110 None 1.000 0 0 2005 2005
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
dynein axonemal heavy chain 5 0.590 0.692 4.9E-64
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.110 None 1.000 0 0 2004 2004
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.110 None 1.000 0 0 2002 2002
Entrez Id: 80199
Gene Symbol: FUZ
FUZ
fuzzy planar cell polarity protein 0.597 0.731 1.3E-05
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.110 None 1.000 0 0 1989 1989
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 286204
Gene Symbol: CRB2
CRB2
crumbs cell polarity complex component 2 0.678 0.269 1.5E-14
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 0.434 0.846 1.00
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 701
Gene Symbol: BUB1B
BUB1B
BUB1 mitotic checkpoint serine/threonine kinase B 0.502 0.808 7.0E-10
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 27019
Gene Symbol: DNAI1
DNAI1
dynein axonemal intermediate chain 1 0.597 0.692 2.4E-08
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.110 None 1.000 0 0 2004 2004