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: 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
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: 8777
Gene Symbol: MPDZ
MPDZ
multiple PDZ domain crumbs cell polarity complex component 0.638 0.500 5.8E-38
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia
disease 0.100 None 0 0
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1
laminin subunit alpha 1 0.582 0.808 3.2E-32
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: 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: 22995
Gene Symbol: CEP152
CEP152
centrosomal protein 152 0.653 0.500 2.7E-27
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia
disease 0.100 None 0 0
Entrez Id: 80254
Gene Symbol: CEP63
CEP63
centrosomal protein 63 0.666 0.500 6.2E-25
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia
disease 0.100 None 0 0
Entrez Id: 284403
Gene Symbol: WDR62
WDR62
WD repeat domain 62 0.597 0.615 2.4E-23
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia
disease 0.100 None 0 0
Entrez Id: 55755
Gene Symbol: CDK5RAP2
CDK5RAP2
CDK5 regulatory subunit associated protein 2 0.682 0.577 4.6E-23
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia
disease 0.100 None 0 0
Entrez Id: 9662
Gene Symbol: CEP135
CEP135
centrosomal protein 135 0.695 0.615 3.6E-22
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia
disease 0.100 None 0 0
Entrez Id: 3912
Gene Symbol: LAMB1
LAMB1
laminin subunit beta 1 0.615 0.654 5.1E-22
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia
disease 0.100 None 0 0
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: 84162
Gene Symbol: KIAA1109
KIAA1109
KIAA1109 0.603 0.654 3.3E-21
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: 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: 55780
Gene Symbol: ERMARD
ERMARD
ER membrane associated RNA degradation 0.647 0.538 5.8E-16
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: 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: 57724
Gene Symbol: EPG5
EPG5
ectopic P-granules autophagy protein 5 homolog 0.623 0.769 1.4E-13
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: 29899
Gene Symbol: GPSM2
GPSM2
G protein signaling modulator 2 0.682 0.538 7.7E-11
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia
disease 0.100 None 0 0
Entrez Id: 23141
Gene Symbol: ANKLE2
ANKLE2
ankyrin repeat and LEM domain containing 2 0.691 0.500 1.0E-10
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia
disease 0.100 None 0 0
Entrez Id: 161582
Gene Symbol: DNAAF4
DNAAF4
dynein axonemal assembly factor 4 0.623 0.731 9.7E-10
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia
disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 219844
Gene Symbol: HYLS1
HYLS1
HYLS1 centriolar and ciliogenesis associated 0.572 0.692 2.3E-09
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia
disease 0.100 None 0 0