angelman syndrome Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_1932)
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Genes

143 genes co-occuring with the disease angelman syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
UBE3A ubiquitin protein ligase E3A 3.84529
SNRPN small nuclear ribonucleoprotein polypeptide N 2.95794
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3 2.49644
UBE2S ubiquitin-conjugating enzyme E2S 2.12915
UBE2K ubiquitin-conjugating enzyme E2K 2.0563
GABRA5 gamma-aminobutyric acid (GABA) A receptor, alpha 5 2.00286
NIPA2 non imprinted in Prader-Willi/Angelman syndrome 2 1.75005
USP29 ubiquitin specific peptidase 29 1.72684
MECP2 methyl CpG binding protein 2 1.71727
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 1.70679
APPL1 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 1.66871
ATP10A ATPase, class V, type 10A 1.63814
MKRN3 makorin ring finger protein 3 1.63232
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 1.5934
ASIC1 acid sensing (proton gated) ion channel 1 1.57556
NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1 1.57245
NEURL4 neuralized E3 ubiquitin protein ligase 4 1.4588
NDN necdin, melanoma antigen (MAGE) family member 1.432
SLC9A7 solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 1.33021
GABRG3 gamma-aminobutyric acid (GABA) A receptor, gamma 3 1.29352
TUBGCP5 tubulin, gamma complex associated protein 5 1.26734
SNURF SNRPN upstream reading frame 1.25602
CYFIP1 cytoplasmic FMR1 interacting protein 1 1.2521
OCA2 oculocutaneous albinism II 1.23082
GOLGA6L2 golgin A6 family-like 2 1.17421
PARK2 parkin RBR E3 ubiquitin protein ligase 1.13501
EPS15L1 epidermal growth factor receptor pathway substrate 15-like 1 1.12066
CDKL5 cyclin-dependent kinase-like 5 1.10216
ZRANB3 zinc finger, RAN-binding domain containing 3 1.06312
PTER phosphotriesterase related 1.05723
ARC activity-regulated cytoskeleton-associated protein 1.05051
NDNL2 necdin-like 2 1.01301
LUZP2 leucine zipper protein 2 0.985164
ZNF451 zinc finger protein 451 0.97296
PEG3 paternally expressed 3 0.95745
ATP5L ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G 0.955779
NPAP1 nuclear pore associated protein 1 0.93207
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal) 0.86714
KANSL1 KAT8 regulatory NSL complex subunit 1 0.815924
NXPH1 neurexophilin 1 0.812642
UBE3C ubiquitin protein ligase E3C 0.795002
ARID4B AT rich interactive domain 4B (RBP1-like) 0.783936
SLCO3A1 solute carrier organic anion transporter family, member 3A1 0.778613
PARN poly(A)-specific ribonuclease 0.777795
PRDM9 PR domain containing 9 0.754527
MAPK6 mitogen-activated protein kinase 6 0.749237
UBE3B ubiquitin protein ligase E3B 0.726929
ZC3HC1 zinc finger, C3HC-type containing 1 0.722886
CXXC1 CXXC finger protein 1 0.722077
DEXI Dexi homolog (mouse) 0.687091
ZDHHC17 zinc finger, DHHC-type containing 17 0.668742
EPHA6 EPH receptor A6 0.654067
CHRFAM7A CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion 0.649323
CAMK2G calcium/calmodulin-dependent protein kinase II gamma 0.633956
ADSL adenylosuccinate lyase 0.633169
UCHL5 ubiquitin carboxyl-terminal hydrolase L5 0.631991
HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 0.624143
TUBA1C tubulin, alpha 1c 0.615138
NPY2R neuropeptide Y receptor Y2 0.611229
ZFP57 ZFP57 zinc finger protein 0.610057
TUBA1B tubulin, alpha 1b 0.60225
PLXND1 plexin D1 0.581606
UBE2A ubiquitin-conjugating enzyme E2A 0.545093
NEUROG2 neurogenin 2 0.544705
CAPRIN2 caprin family member 2 0.535022
FMR1 fragile X mental retardation 1 0.534248
HIF1AN hypoxia inducible factor 1, alpha subunit inhibitor 0.529994
GLRA1 glycine receptor, alpha 1 0.529994
HOXB9 homeobox B9 0.526904
TCF4 transcription factor 4 0.520731
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2) 0.505739
MEF2C myocyte enhancer factor 2C 0.496939
FOXG1 forkhead box G1 0.494266
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic) 0.488549
NLRP2 NLR family, pyrin domain containing 2 0.487407
MBD5 methyl-CpG binding domain protein 5 0.487407
BHLHE22 basic helix-loop-helix family, member e22 0.486646
GAB1 GRB2-associated binding protein 1 0.485885
UBE2H ubiquitin-conjugating enzyme E2H 0.469197
ARID4A AT rich interactive domain 4A (RBP1-like) 0.466172
PSMD4 proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 0.462772
AGO2 argonaute RISC catalytic component 2 0.461261
EHMT1 euchromatic histone-lysine N-methyltransferase 1 0.446935
SIN3A SIN3 transcription regulator family member A 0.443923
IL1RAPL1 interleukin 1 receptor accessory protein-like 1 0.44129
SLC9A9 solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 0.43941
IGF2R insulin-like growth factor 2 receptor 0.435275
ECT2 epithelial cell transforming 2 0.428891
PVALB parvalbumin 0.42364
ZEB2 zinc finger E-box binding homeobox 2 0.421765
NLRP7 NLR family, pyrin domain containing 7 0.407172
MS4A1 membrane-spanning 4-domains, subfamily A, member 1 0.404184
RYR3 ryanodine receptor 3 0.400453
GABRD gamma-aminobutyric acid (GABA) A receptor, delta 0.397843
ATRX alpha thalassemia/mental retardation syndrome X-linked 0.375179
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6 0.374809
ST6GALNAC1 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 0.370368
ANK3 ankyrin 3, node of Ranvier (ankyrin G) 0.369997
HOMER1 homer scaffolding protein 1 0.363347
LAPTM4B lysosomal protein transmembrane 4 beta 0.347511
CLCN2 chloride channel, voltage-sensitive 2 0.344207
CTCFL CCCTC-binding factor (zinc finger protein)-like 0.333218
SCN8A sodium channel, voltage gated, type VIII alpha subunit 0.326646
HIST1H2AD histone cluster 1, H2ad 0.325187
HIST1H2AJ histone cluster 1, H2aj 0.325187
SATB2 SATB homeobox 2 0.324094
H2AFV H2A histone family, member V 0.323365
H2AFB2 H2A histone family, member B2 0.322637
MRS2 MRS2 magnesium transporter 0.321545
H2AFY2 H2A histone family, member Y2 0.321545
H2AFB1 H2A histone family, member B1 0.321545
HIST1H2AH histone cluster 1, H2ah 0.320817
H2AFJ H2A histone family, member J 0.320454
HAS3 hyaluronan synthase 3 0.319363
HIST1H2AM histone cluster 1, H2am 0.317182
PRC1 protein regulator of cytokinesis 1 0.31464
HIST1H2AE histone cluster 1, H2ae 0.312102
HIST1H2AB histone cluster 1, H2ab 0.312102
HIST1H2AG histone cluster 1, H2ag 0.305226
AKR7A2 aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase) 0.304864
DLX5 distal-less homeobox 5 0.302337
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2 0.290462
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 0.288668
H2AFY H2A histone family, member Y 0.28151
FLAD1 flavin adenine dinucleotide synthetase 1 0.28151
PCNT pericentrin 0.281153
SLC9A1 solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1 0.270108
SNAI2 snail family zinc finger 2 0.239799
HTR2C 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 0.23945
ID4 inhibitor of DNA binding 4, dominant negative helix-loop-helix protein 0.224884
WDR20 WD repeat domain 20 0.220081
CALB1 calbindin 1, 28kDa 0.217693
LIG1 ligase I, DNA, ATP-dependent 0.217012
NRXN1 neurexin 1 0.216672
FXYD1 FXYD domain containing ion transport regulator 1 0.213621
LRPAP1 low density lipoprotein receptor-related protein associated protein 1 0.209918
NR4A2 nuclear receptor subfamily 4, group A, member 2 0.209583
RGMA repulsive guidance molecule family member a 0.201635
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family) 0.181798
UBA52 ubiquitin A-52 residue ribosomal protein fusion product 1 0.181798
GNAS GNAS complex locus 0.180652
HES5 hes family bHLH transcription factor 5 0.163523
PTGDR prostaglandin D2 receptor (DP) 0.158605