Source: CURATED

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: 2475
Gene Symbol: MTOR
MTOR
mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia
disease 0.460 None 1.000 1 0 2006 2018
Entrez Id: 347733
Gene Symbol: TUBB2B
TUBB2B
tubulin beta 2B class IIb 0.610 0.385 0.99
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia
disease 0.410 None 1.000 1 0 2009 2014
Entrez Id: 3800
Gene Symbol: KIF5C
KIF5C
kinesin family member 5C 0.686 0.346 1.00
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia
disease 0.400 None 1.000 1 0 2013 2013
Entrez Id: 3796
Gene Symbol: KIF2A
KIF2A
kinesin family member 2A 0.590 0.731 1.00
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia
disease 0.400 None 1.000 1 0 2013 2013
Entrez Id: 7283
Gene Symbol: TUBG1
TUBG1
tubulin gamma 1 0.729 0.231 0.13
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia
disease 0.400 None 1.000 1 0 2013 2013
Entrez Id: 3340
Gene Symbol: NDST1
NDST1
N-deacetylase and N-sulfotransferase 1 0.608 0.692 1.00
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia
disease 0.400 None 1.000 1 0 2005 2005
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
dynein cytoplasmic 1 heavy chain 1 0.547 0.769 1.00
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia
disease 0.400 None 1.000 1 1 2013 2013
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia
disease 0.310 None 1.000 1 0 2012 2017
Entrez Id: 6505
Gene Symbol: SLC1A1
SLC1A1
solute carrier family 1 member 1 0.561 0.654 8.7E-06
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia
disease 0.310 None 1.000 1 0 2002 2002
Entrez Id: 10000
Gene Symbol: AKT3
AKT3
AKT serine/threonine kinase 3 0.512 0.808 1.00
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia
disease 0.310 None 1.000 1 0 2012 2015
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia
disease 0.300 None 1.000 1 0 2017 2017
Entrez Id: 284403
Gene Symbol: WDR62
WDR62
WD repeat domain 62 0.597 0.615 2.4E-23
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia
disease 0.300 None 1.000 1 0 2013 2013
Entrez Id: 26128
Gene Symbol: KIFBP
KIFBP
kinesin family binding protein 0.615 0.731 7.6E-02
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia
disease 0.300 None 1.000 1 0 2005 2005
Entrez Id: 6904
Gene Symbol: TBCD
TBCD
tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia
disease 0.300 None 1.000 1 0 2016 2016