pervasive developmental disorder Gene Set

Dataset GWASdb SNP-Disease Associations
Category disease or phenotype associations
Type disease
Description A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors. (Human Disease Ontology, DOID_0060040)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/DOID:0060040
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Genes

120 genes associated with the disease pervasive developmental disorder in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

Symbol Name Standardized Value
TRIM26 tripartite motif containing 26 0.64645
ITIH3 inter-alpha-trypsin inhibitor heavy chain 3 0.636886
TMEM132B transmembrane protein 132B 0.609346
MIR137HG MIR137 host gene 0.593633
SMOC1 SPARC related modular calcium binding 1 0.593633
RYR2 ryanodine receptor 2 (cardiac) 0.57724
CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 0.487532
UPP2 uridine phosphorylase 2 0.486025
ANK3 ankyrin 3, node of Ranvier (ankyrin G) 0.484322
SYNE1 spectrin repeat containing, nuclear envelope 1 0.482571
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit 0.481235
CNTNAP2 contactin associated protein-like 2 0.478721
ZNRD1 zinc ribbon domain containing 1 0.478563
PDZK1 PDZ domain containing 1 0.478563
NT5C2 5'-nucleotidase, cytosolic II 0.477278
AS3MT arsenite methyltransferase 0.477278
TENM4 teneurin transmembrane protein 4 0.468362
CACNB2 calcium channel, voltage-dependent, beta 2 subunit 0.468362
CSMD1 CUB and Sushi multiple domains 1 0.468362
MACROD2 MACRO domain containing 2 0.468362
PCDH15 protocadherin-related 15 0.462086
MYO1E myosin IE 0.461977
FLJ46010 0.460379
SLC22A15 solute carrier family 22, member 15 0.458853
YEATS2 YEATS domain containing 2 0.458454
LDAH lipid droplet associated hydrolase 0.458358
ERBB4 erb-b2 receptor tyrosine kinase 4 0.458073
ZBTB16 zinc finger and BTB domain containing 16 0.457076
DPCR1 diffuse panbronchiolitis critical region 1 0.456271
TCF4 transcription factor 4 0.456271
RASSF5 Ras association (RalGDS/AF-6) domain family member 5 0.454317
LIPG lipase, endothelial 0.453673
SYNE2 spectrin repeat containing, nuclear envelope 2 0.452934
TAF1C TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa 0.452375
RPH3AL rabphilin 3A-like (without C2 domains) 0.452217
LAMA1 laminin, alpha 1 0.45056
GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 0.449445
PARD3B par-3 family cell polarity regulator beta 0.44927
SLC39A11 solute carrier family 39, member 11 0.449154
GUCY1A2 guanylate cyclase 1, soluble, alpha 2 0.448457
SLC23A2 solute carrier family 23 (ascorbic acid transporter), member 2 0.446755
RERE arginine-glutamic acid dipeptide (RE) repeats 0.446685
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) 0.444856
MPP6 membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) 0.444585
BRD2 bromodomain containing 2 0.444585
ZNF827 zinc finger protein 827 0.444433
ERG v-ets avian erythroblastosis virus E26 oncogene homolog 0.443422
SORCS1 sortilin-related VPS10 domain containing receptor 1 0.442562
CTNND2 catenin (cadherin-associated protein), delta 2 0.441491
DNER delta/notch-like EGF repeat containing 0.440409
CDKAL1 CDK5 regulatory subunit associated protein 1-like 1 0.440019
SLC22A3 solute carrier family 22 (organic cation transporter), member 3 0.439951
SOX7 SRY (sex determining region Y)-box 7 0.439497
GLIS1 GLIS family zinc finger 1 0.439111
PC pyruvate carboxylase 0.438935
DCLK2 doublecortin-like kinase 2 0.438494
SPAG16 sperm associated antigen 16 0.438494
SORBS2 sorbin and SH3 domain containing 2 0.437349
NTM neurotrimin 0.430311
KIF21B kinesin family member 21B 0.430311
ANKS1B ankyrin repeat and sterile alpha motif domain containing 1B 0.430311
LIN28B lin-28 homolog B (C. elegans) 0.430311
PPP2R2B protein phosphatase 2, regulatory subunit B, beta 0.430311
PALB2 partner and localizer of BRCA2 0.430311
PPP2R5C protein phosphatase 2, regulatory subunit B', gamma 0.425585
RIC8B RIC8 guanine nucleotide exchange factor B 0.422682
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 0.422054
FHIT fragile histidine triad 0.422054
GLT8D1 glycosyltransferase 8 domain containing 1 0.419335
KMT2A lysine (K)-specific methyltransferase 2A 0.419335
GRIK1 glutamate receptor, ionotropic, kainate 1 0.419335
C2ORF82 chromosome 2 open reading frame 82 0.419335
MAD1L1 MAD1 mitotic arrest deficient-like 1 (yeast) 0.419335
RASGRP4 RAS guanyl releasing protein 4 0.419335
FTSJ2 FtsJ RNA methyltransferase homolog 2 (E. coli) 0.419335
ZMIZ1 zinc finger, MIZ-type containing 1 0.419335
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 0.418179
PIAS3 protein inhibitor of activated STAT, 3 0.41796
NTRK3 neurotrophic tyrosine kinase, receptor, type 3 0.417062
NEURL1 neuralized E3 ubiquitin protein ligase 1 0.414949
CLEC17A C-type lectin domain family 17, member A 0.414949
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A 0.414949
PRPF3 pre-mRNA processing factor 3 0.414949
SLTM SAFB-like, transcription modulator 0.414949
C2ORF91 chromosome 2 open reading frame 91 0.414006
CBFA2T3 core-binding factor, runt domain, alpha subunit 2; translocated to, 3 0.413127
ZNF804A zinc finger protein 804A 0.413127
HDAC4 histone deacetylase 4 0.413127
ZNF695 zinc finger protein 695 0.412958
VAV3 vav 3 guanine nucleotide exchange factor 0.410793
PRKCB protein kinase C, beta 0.410665
TTI1 TELO2 interacting protein 1 0.399703
FAM171A1 family with sequence similarity 171, member A1 0.399703
SKAP1 src kinase associated phosphoprotein 1 0.399703
KLHDC10 kelch domain containing 10 0.392942
BNC2 basonuclin 2 0.389729
TSHZ1 teashirt zinc finger homeobox 1 0.387883
ACTN2 actinin, alpha 2 0.38398
GANC glucosidase, alpha; neutral C 0.383941
MIPOL1 mirror-image polydactyly 1 0.382782
SLC13A1 solute carrier family 13 (sodium/sulfate symporter), member 1 0.379656
THBS4 thrombospondin 4 0.374963
MYO5B myosin VB 0.372742
JPH4 junctophilin 4 0.370753
LOC100506207 uncharacterized LOC100506207 0.370556
CNTN5 contactin 5 0.370556
BCAS3 breast carcinoma amplified sequence 3 0.362829
PSD3 pleckstrin and Sec7 domain containing 3 0.361341
PRKCE protein kinase C, epsilon 0.361341
APOBEC4 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative) 0.360411
RNF111 ring finger protein 111 0.358275
TTC33 tetratricopeptide repeat domain 33 0.357876
PRKAA1 protein kinase, AMP-activated, alpha 1 catalytic subunit 0.357876
RIMS2 regulating synaptic membrane exocytosis 2 0.350171
GFRA1 GDNF family receptor alpha 1 0.34673
CEP78 centrosomal protein 78kDa 0.345505
RGL1 ral guanine nucleotide dissociation stimulator-like 1 0.34326
ADGB androglobin 0.340501
TGFB1 transforming growth factor, beta 1 0.336013
ATMIN ATM interactor 0.330781