Neuronal Heterotopia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0266491
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Genes

66 genes associated with the disease Neuronal Heterotopia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALG11 ALG11, alpha-1,2-mannosyltransferase
ANKLE2 ankyrin repeat and LEM domain containing 2
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
ASXL1 additional sex combs like transcriptional regulator 1
B3GNT1
C7ORF43 chromosome 7 open reading frame 43
CASC5 cancer susceptibility candidate 5
CDK5RAP2 CDK5 regulatory subunit associated protein 2
CDK6 cyclin-dependent kinase 6
CELSR2 cadherin, EGF LAG seven-pass G-type receptor 2
CENPJ centromere protein J
CEP135 centrosomal protein 135kDa
CEP152 centrosomal protein 152kDa
CEP63 centrosomal protein 63kDa
CIT citron rho-interacting serine/threonine kinase
COPB2 coatomer protein complex, subunit beta 2 (beta prime)
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
DCHS1 dachsous cadherin-related 1
DCX doublecortin
DNAAF4 dynein axonemal assembly factor 4
EML1 echinoderm microtubule associated protein like 1
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ERMARD ER membrane-associated RNA degradation
FAT4 FAT atypical cadherin 4
FGFR3 fibroblast growth factor receptor 3
FKRP fukutin related protein
FKTN fukutin
FLNA filamin A, alpha
GMPPB GDP-mannose pyrophosphorylase B
GPSM2 G-protein signaling modulator 2
H3F3A H3 histone, family 3A
HYLS1 hydrolethalus syndrome 1
ISPD isoprenoid synthase domain containing
KANSL1 KAT8 regulatory NSL complex subunit 1
KATNB1 katanin p80 (WD repeat containing) subunit B 1
KIAA1109 KIAA1109
KIF14 kinesin family member 14
LAMA1 laminin, alpha 1
LAMB1 laminin, beta 1
MCPH1 microcephalin 1
MED12 mediator complex subunit 12
MFSD2A major facilitator superfamily domain containing 2A
MPDZ multiple PDZ domain protein
MTOR mechanistic target of rapamycin (serine/threonine kinase)
NCAPD3 non-SMC condensin II complex, subunit D3
OFD1 oral-facial-digital syndrome 1
PEX1 peroxisomal biogenesis factor 1
PHC1 polyhomeotic homolog 1 (Drosophila)
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PTEN phosphatase and tensin homolog
PYCR2 pyrroline-5-carboxylate reductase family, member 2
SASS6 spindle assembly 6 homolog (C. elegans)
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
STIL SCL/TAL1 interrupting locus
STX7 syntaxin 7
TAF13 TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa
TMEM107 transmembrane protein 107
TPO thyroid peroxidase
TUBA1A tubulin, alpha 1a
TUBB2B tubulin, beta 2B class IIb
USP18 ubiquitin specific peptidase 18
WDR62 WD repeat domain 62