Angelman Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_1932)
External Link https://www.disgenet.org/browser/0/1/0/C0162635
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Genes

89 genes associated with the disease Angelman Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACTB actin, beta
APP amyloid beta (A4) precursor protein
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
ASXL3 additional sex combs like transcriptional regulator 3
ATP10A ATPase, class V, type 10A
ATP8A1 ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1
ATRAID all-trans retinoic acid-induced differentiation factor
BDNF brain-derived neurotrophic factor
CAMK2A calcium/calmodulin-dependent protein kinase II alpha
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CDKL5 cyclin-dependent kinase-like 5
CDKN2C cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)
CFL1 cofilin 1 (non-muscle)
COPS2 COP9 signalosome subunit 2
CREBBP CREB binding protein
CYFIP1 cytoplasmic FMR1 interacting protein 1
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
DBI diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)
DDI1 DNA-damage inducible 1 homolog 1 (S. cerevisiae)
DERL1 derlin 1
DNAH8 dynein, axonemal, heavy chain 8
DYM dymeclin
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
EEF1E1 eukaryotic translation elongation factor 1 epsilon 1
EP300 E1A binding protein p300
EPHA6 EPH receptor A6
ERBB4 erb-b2 receptor tyrosine kinase 4
ESR1 estrogen receptor 1
FMR1 fragile X mental retardation 1
FOXG1 forkhead box G1
GABRA5 gamma-aminobutyric acid (GABA) A receptor, alpha 5
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3
GABRG3 gamma-aminobutyric acid (GABA) A receptor, gamma 3
HAP1 huntingtin-associated protein 1
HDAC1 histone deacetylase 1
HDAC2 histone deacetylase 2
HDAC9 histone deacetylase 9
HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2
HTR1A 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3
LAMTOR1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1
LMLN leishmanolysin-like (metallopeptidase M8 family)
MAFK v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog K
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MECP2 methyl CpG binding protein 2
MEF2C myocyte enhancer factor 2C
MKRN3 makorin ring finger protein 3
MSMB microseminoprotein, beta-
MST1 macrophage stimulating 1
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MUL1 mitochondrial E3 ubiquitin protein ligase 1
NDN necdin, melanoma antigen (MAGE) family member
NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1
NIPA2 non imprinted in Prader-Willi/Angelman syndrome 2
NNAT neuronatin
NPAP1 nuclear pore associated protein 1
NPAS3 neuronal PAS domain protein 3
NR4A2 nuclear receptor subfamily 4, group A, member 2
OCA2 oculocutaneous albinism II
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PARK2 parkin RBR E3 ubiquitin protein ligase
PRNP prion protein
PSMD4 proteasome (prosome, macropain) 26S subunit, non-ATPase, 4
PVALB parvalbumin
RNF2 ring finger protein 2
SCG5 secretogranin V
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7
SLC6A1 solute carrier family 6 (neurotransmitter transporter), member 1
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SNRPN small nuclear ribonucleoprotein polypeptide N
SNURF SNRPN upstream reading frame
STOML3 stomatin (EPB72)-like 3
SYNGAP1 synaptic Ras GTPase activating protein 1
TCF4 transcription factor 4
TJP1 tight junction protein 1
TMPRSS13 transmembrane protease, serine 13
TOP1 topoisomerase (DNA) I
TP53 tumor protein p53
TPPP2 tubulin polymerization-promoting protein family member 2
TUBGCP5 tubulin, gamma complex associated protein 5
UBE2I ubiquitin-conjugating enzyme E2I
UBE2K ubiquitin-conjugating enzyme E2K
UBE3A ubiquitin protein ligase E3A
UROD uroporphyrinogen decarboxylase
ZNF197 zinc finger protein 197
ZNF645 zinc finger protein 645