Neurocutaneous Syndromes Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0265316
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Genes

28 genes associated with the disease Neurocutaneous Syndromes in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
AP1S1 adaptor-related protein complex 1, sigma 1 subunit
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
HRAS Harvey rat sarcoma viral oncogene homolog
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
KRIT1 KRIT1, ankyrin repeat containing
LAMC2 laminin, gamma 2
MEF2C myocyte enhancer factor 2C
MTOR mechanistic target of rapamycin (serine/threonine kinase)
NF1 neurofibromin 1
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
POSTN periostin, osteoblast specific factor
RASA1 RAS p21 protein activator (GTPase activating protein) 1
RHOA ras homolog family member A
SNAP29 synaptosomal-associated protein, 29kDa
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
WT1 Wilms tumor 1