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 0.305 0.923 0.26
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia
disease 0.100 None 0 0
Entrez Id: 207
Gene Symbol: AKT1
AKT1
AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia
disease 0.100 None 0 0
Entrez Id: 23583
Gene Symbol: SMUG1
SMUG1
single-strand-selective monofunctional uracil-DNA glycosylase 1 0.322 0.923 4.5E-04
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia
disease 0.020 None 1.000 2 0 2017 2017
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia
disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia
disease 0.100 None 0 0
Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
cytochrome P450 family 19 subfamily A member 1 0.410 0.885 1.7E-05
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.419 0.846 1.00
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia
disease 0.110 None 1.000 1 0 2012 2012
Entrez Id: 7173
Gene Symbol: TPO
TPO
thyroid peroxidase 0.455 0.846 1.8E-21
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 1021
Gene Symbol: CDK6
CDK6
cyclin dependent kinase 6 0.471 0.731 0.98
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia
disease 0.100 None 0 0
Entrez Id: 9968
Gene Symbol: MED12
MED12
mediator complex subunit 12 0.476 0.769 1.00
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia
disease 0.100 None 0 0
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
ASXL transcriptional regulator 1 0.482 0.808 1.3E-14
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia
disease 0.100 None 0 0
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
OFD1 centriole and centriolar satellite protein 0.510 0.808 0.96
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia
disease 0.100 None 0 0
Entrez Id: 1641
Gene Symbol: DCX
DCX
doublecortin 0.511 0.769 0.30
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia
disease 0.100 None 0 0
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
fukutin 0.511 0.692 8.7E-07
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia
disease 0.100 None 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.513 0.731 9.8E-06
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia
disease 0.100 None 0 0
Entrez Id: 10585
Gene Symbol: POMT1
POMT1
protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia
disease 0.100 None 0 0
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
abnormal spindle microtubule assembly 0.526 0.769 3.4E-49
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia
disease 0.100 None 0 0
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 0.537 0.538 1.9E-20
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia
disease 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia
disease 0.100 None 0 0
Entrez Id: 79633
Gene Symbol: FAT4
FAT4
FAT atypical cadherin 4 0.539 0.808 1.00
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia
disease 0.100 None 0 0
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
microcephalin 1 0.540 0.846 7.8E-30
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia
disease 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2
protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia
disease 0.100 None 0 0
Entrez Id: 55835
Gene Symbol: CENPJ
CENPJ
centromere protein J 0.546 0.846 2.1E-27
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia
disease 0.100 None 0 0
Entrez Id: 11113
Gene Symbol: CIT
CIT
citron rho-interacting serine/threonine kinase 0.555 0.692 1.00
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia
disease 0.100 None 0 0
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia
disease 0.100 None 0 0