Periventricular Nodular Heterotopia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain. (Human Disease Ontology, DOID_0050454)
External Link https://www.disgenet.org/browser/0/1/0/C1868720
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Genes

45 genes associated with the disease Periventricular Nodular 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
ANKRD11 ankyrin repeat domain 11
ARF1 ADP-ribosylation factor 1
ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
ARX aristaless related homeobox
C2CD3 C2 calcium-dependent domain containing 3
CSF1R colony stimulating factor 1 receptor
DCDC2 doublecortin domain containing 2
DCHS1 dachsous cadherin-related 1
DCX doublecortin
DHCR7 7-dehydrocholesterol reductase
DLL1 delta-like 1 (Drosophila)
ERMARD ER membrane-associated RNA degradation
ERN1 endoplasmic reticulum to nucleus signaling 1
FAM20C family with sequence similarity 20, member C
FAT4 FAT atypical cadherin 4
FLNA filamin A, alpha
FMR1 fragile X mental retardation 1
GNAI2 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2
HESX1 HESX homeobox 1
INTS8 integrator complex subunit 8
KAT6B K(lysine) acetyltransferase 6B
KIAA0319L KIAA0319-like
LLGL1 lethal giant larvae homolog 1 (Drosophila)
MAN1B1 mannosidase, alpha, class 1B, member 1
MAP1B microtubule-associated protein 1B
MAP3K4 mitogen-activated protein kinase kinase kinase 4
MEN1 multiple endocrine neoplasia I
MOB2 MOB kinase activator 2
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
NES nestin
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PHF10 PHD finger protein 10
PLEKHG6 pleckstrin homology domain containing, family G (with RhoGef domain) member 6
RELN reelin
RMDN1 regulator of microtubule dynamics 1
RMDN2 regulator of microtubule dynamics 2
RMDN3 regulator of microtubule dynamics 3
RTTN rotatin
SLC25A24 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
SYBU syntabulin (syntaxin-interacting)
TMTC3 transmembrane and tetratricopeptide repeat containing 3
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZSWIM6 zinc finger, SWIM-type containing 6