Developmental Disabilities Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed) (Experimental Factor Ontology, EFO_0003852)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:D002658
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Genes

342 genes/proteins associated with the disease Developmental Disabilities from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal) 2.88009
MECP2 methyl CpG binding protein 2 2.88009
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8 2.88009
CNTN4 contactin 4 2.88009
DOCK8 dedicator of cytokinesis 8 2.88009
PMP22 peripheral myelin protein 22 2.88009
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase 2.88009
NTRK2 neurotrophic tyrosine kinase, receptor, type 2 2.88009
KCNT1 potassium channel, sodium activated subfamily T, member 1 2.88009
PNKP polynucleotide kinase 3'-phosphatase 2.88009
STAMBP STAM binding protein 2.88009
SHANK3 SH3 and multiple ankyrin repeat domains 3 2.88009
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4 2.88009
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2 2.88009
PTEN phosphatase and tensin homolog 2.88009
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 2.88009
ARFGAP1 ADP-ribosylation factor GTPase activating protein 1 2.88009
LRP2 low density lipoprotein receptor-related protein 2 2.88009
PRL prolactin 1.69763
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1.61201
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2 1.60897
FOS FBJ murine osteosarcoma viral oncogene homolog 1.59755
EGR1 early growth response 1 1.58137
TUBA4A tubulin, alpha 4a 1.52718
DUSP1 dual specificity phosphatase 1 1.52718
CAT catalase 1.52591
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) 1.52338
KLF4 Kruppel-like factor 4 (gut) 1.51506
PEBP1 phosphatidylethanolamine binding protein 1 1.50903
MAPK3 mitogen-activated protein kinase 3 1.49992
SOD1 superoxide dismutase 1, soluble 1.48633
FAS Fas cell surface death receptor 1.48093
CREB1 cAMP responsive element binding protein 1 1.46515
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1 1.4567
GSK3B glycogen synthase kinase 3 beta 1.44763
THBS1 thrombospondin 1 1.44708
CX3CL1 chemokine (C-X3-C motif) ligand 1 1.41229
MAPK1 mitogen-activated protein kinase 1 1.40623
VLDLR very low density lipoprotein receptor 1.40008
JUN jun proto-oncogene 1.3903
SCARB1 scavenger receptor class B, member 1 1.38863
MMP3 matrix metallopeptidase 3 1.38242
IDH3A isocitrate dehydrogenase 3 (NAD+) alpha 1.38156
CTSD cathepsin D 1.38071
GYPC glycophorin C (Gerbich blood group) 1.37817
SLC16A6 solute carrier family 16, member 6 1.37817
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) 1.37303
MBP myelin basic protein 1.36361
GEM GTP binding protein overexpressed in skeletal muscle 1.36047
BDNF brain-derived neurotrophic factor 1.35849
CTSL cathepsin L 1.35502
MFGE8 milk fat globule-EGF factor 8 protein 1.35386
KCNAB1 potassium channel, voltage gated subfamily A regulatory beta subunit 1 1.35328
GRIK5 glutamate receptor, ionotropic, kainate 5 1.35328
HMOX1 heme oxygenase 1 1.35213
DDIT3 DNA-damage-inducible transcript 3 1.3484
CALR calreticulin 1.33081
HSPA8 heat shock 70kDa protein 8 1.33052
RGS2 regulator of G-protein signaling 2 1.32696
ACHE acetylcholinesterase (Yt blood group) 1.32518
S100A8 S100 calcium binding protein A8 1.3231
SLC20A2 solute carrier family 20 (phosphate transporter), member 2 1.31985
APOE apolipoprotein E 1.31837
CCL2 chemokine (C-C motif) ligand 2 1.31807
MAPK8 mitogen-activated protein kinase 8 1.31596
NCOA7 nuclear receptor coactivator 7 1.31476
IL6 interleukin 6 1.31416
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1 1.30635
COX6A1 cytochrome c oxidase subunit VIa polypeptide 1 1.30482
CRH corticotropin releasing hormone 1.30299
ASS1 argininosuccinate synthase 1 1.29966
ANXA1 annexin A1 1.2975
ODC1 ornithine decarboxylase 1 1.29688
ACOX1 acyl-CoA oxidase 1, palmitoyl 1.29564
AFP alpha-fetoprotein 1.29379
VCAM1 vascular cell adhesion molecule 1 1.29225
TNF tumor necrosis factor 1.29225
NPY neuropeptide Y 1.29041
HSPA1B heat shock 70kDa protein 1B 1.28858
MAOA monoamine oxidase A 1.28518
BCL2 B-cell CLL/lymphoma 2 1.28272
GSTM1 glutathione S-transferase mu 1 1.28058
SGK1 serum/glucocorticoid regulated kinase 1 1.27845
F3 coagulation factor III (thromboplastin, tissue factor) 1.27533
IL10 interleukin 10 1.27347
HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) 1.267
ATP5B ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide 1.26576
SYNE1 spectrin repeat containing, nuclear envelope 1 1.2639
ACO2 aconitase 2, mitochondrial 1.26329
IL1A interleukin 1, alpha 1.2599
IL1B interleukin 1, beta 1.25929
DRD2 dopamine receptor D2 1.25807
TP53 tumor protein p53 1.25682
UNG uracil-DNA glycosylase 1.25651
IL2 interleukin 2 1.25651
CASP3 caspase 3, apoptosis-related cysteine peptidase 1.25557
OPRK1 opioid receptor, kappa 1 1.25183
PCDH7 protocadherin 7 1.25183
NFE2L2 nuclear factor, erythroid 2-like 2 1.2509
ATF3 activating transcription factor 3 1.25028
IFNG interferon, gamma 1.24874
COL1A2 collagen, type I, alpha 2 1.24687
BAX BCL2-associated X protein 1.24118
CCRN4L CCR4 carbon catabolite repression 4-like (S. cerevisiae) 1.24024
OCLN occludin 1.23806
TUBB2B tubulin, beta 2B class IIb 1.2368
ALB albumin 1.23265
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD) 1.23137
NR4A1 nuclear receptor subfamily 4, group A, member 1 1.22916
SLC2A6 solute carrier family 2 (facilitated glucose transporter), member 6 1.22853
POMC proopiomelanocortin 1.22821
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1 1.22048
GUCY1B3 guanylate cyclase 1, soluble, beta 3 1.21855
FOSB FBJ murine osteosarcoma viral oncogene homolog B 1.21663
GRIA2 glutamate receptor, ionotropic, AMPA 2 1.21534
PRKCA protein kinase C, alpha 1.2137
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase 1.21173
FDFT1 farnesyl-diphosphate farnesyltransferase 1 1.21043
SLC3A2 solute carrier family 3 (amino acid transporter heavy chain), member 2 1.20622
TNFSF9 tumor necrosis factor (ligand) superfamily, member 9 1.20493
GRIA3 glutamate receptor, ionotropic, AMPA 3 1.19509
PCBP1 poly(rC) binding protein 1 1.19509
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A 1.19445
PON1 paraoxonase 1 1.19345
TOP2A topoisomerase (DNA) II alpha 170kDa 1.19345
PNPLA2 patatin-like phospholipase domain containing 2 1.19179
ABCC3 ATP-binding cassette, sub-family C (CFTR/MRP), member 3 1.1908
ECHS1 enoyl CoA hydratase, short chain, 1, mitochondrial 1.18882
GJA1 gap junction protein, alpha 1, 43kDa 1.18718
PF4 platelet factor 4 1.18554
GLUL glutamate-ammonia ligase 1.18489
PRKCB protein kinase C, beta 1.18293
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) 1.1786
GNAZ guanine nucleotide binding protein (G protein), alpha z polypeptide 1.17728
SLC32A1 solute carrier family 32 (GABA vesicular transporter), member 1 1.17695
EGR3 early growth response 3 1.17662
SOD2 superoxide dismutase 2, mitochondrial 1.17399
SATB1 SATB homeobox 1 1.17168
MYC v-myc avian myelocytomatosis viral oncogene homolog 1.17168
OPRD1 opioid receptor, delta 1 1.17101
TGIF1 TGFB-induced factor homeobox 1 1.17067
RPSA ribosomal protein SA 1.16766
SLC7A11 solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 1.16666
GLS glutaminase 1.165
ASNS asparagine synthetase (glutamine-hydrolyzing) 1.16467
RRM2 ribonucleotide reductase M2 1.16137
FGF12 fibroblast growth factor 12 1.1607
FKBP4 FK506 binding protein 4, 59kDa 1.15933
TAC1 tachykinin, precursor 1 1.15763
HSPB1 heat shock 27kDa protein 1 1.15627
APP amyloid beta (A4) precursor protein 1.1556
CSF2RA colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 1.15526
TKT transketolase 1.15357
COL3A1 collagen, type III, alpha 1 1.15256
LHB luteinizing hormone beta polypeptide 1.15156
EDNRB endothelin receptor type B 1.15089
LPXN leupaxin 1.15022
SYNGR1 synaptogyrin 1 1.14989
OPRM1 opioid receptor, mu 1 1.14954
CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6 1.1461
ARHGAP30 Rho GTPase activating protein 30 1.1461
MAP2 microtubule-associated protein 2 1.14541
NRN1 neuritin 1 1.14507
ARC activity-regulated cytoskeleton-associated protein 1.14268
NOS2 nitric oxide synthase 2, inducible 1.14132
CRYAB crystallin, alpha B 1.13929
CCNA2 cyclin A2 1.13793
AKT1 v-akt murine thymoma viral oncogene homolog 1 1.13793
GALM galactose mutarotase (aldose 1-epimerase) 1.13518
SLC22A7 solute carrier family 22 (organic anion transporter), member 7 1.13484
PLCG1 phospholipase C, gamma 1 1.13484
CCND2 cyclin D2 1.13449
HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase 1.13143
PTK2B protein tyrosine kinase 2 beta 1.12973
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1) 1.12737
GATA3 GATA binding protein 3 1.12737
LDHB lactate dehydrogenase B 1.12737
IMPA1 inositol(myo)-1(or 4)-monophosphatase 1 1.12668
FKBP1B FK506 binding protein 1B, 12.6 kDa 1.12599
PRKCI protein kinase C, iota 1.12599
CALM1 calmodulin 1 (phosphorylase kinase, delta) 1.12495
GPT glutamic-pyruvate transaminase (alanine aminotransferase) 1.12357
FN1 fibronectin 1 1.12254
RASL11B RAS-like, family 11, member B 1.12117
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 1.12082
CDC42 cell division cycle 42 1.12014
ECH1 enoyl CoA hydratase 1, peroxisomal 1.1198
MARCKS myristoylated alanine-rich protein kinase C substrate 1.1198
CASP8 caspase 8, apoptosis-related cysteine peptidase 1.11809
PSAT1 phosphoserine aminotransferase 1 1.11741
CYP51A1 cytochrome P450, family 51, subfamily A, polypeptide 1 1.11536
DCN decorin 1.11536
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) 1.11431
ATP5D ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit 1.1129
KCNK1 potassium channel, two pore domain subfamily K, member 1 1.11255
FLNC filamin C, gamma 1.11255
GRIP1 glutamate receptor interacting protein 1 1.1122
NQO1 NAD(P)H dehydrogenase, quinone 1 1.11186
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1 1.10838
MGLL monoglyceride lipase 1.10803
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1 1.10596
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha 1.10596
RAPGEF4 Rap guanine nucleotide exchange factor (GEF) 4 1.10424
EMP2 epithelial membrane protein 2 1.10388
TNC tenascin C 1.10353
AR androgen receptor 1.10317
MMP2 matrix metallopeptidase 2 1.1014
IL4 interleukin 4 1.1014
ST13 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) 1.09998
FCGR2A Fc fragment of IgG, low affinity IIa, receptor (CD32) 1.09998
HNRNPU heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) 1.09998
GDF10 growth differentiation factor 10 1.09963
MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase 1.09963
ENC1 ectodermal-neural cortex 1 (with BTB domain) 1.09892
PRKCG protein kinase C, gamma 1.09681
FADS2 fatty acid desaturase 2 1.09646
GSTA4 glutathione S-transferase alpha 4 1.09506
GRIN3B glutamate receptor, ionotropic, N-methyl-D-aspartate 3B 1.09332
XRN1 5'-3' exoribonuclease 1 1.09297
NUDT19 nudix (nucleoside diphosphate linked moiety X)-type motif 19 1.09262
GAD1 glutamate decarboxylase 1 (brain, 67kDa) 1.09226
NOS1 nitric oxide synthase 1 (neuronal) 1.09226
FBLN5 fibulin 5 1.09154
PBX1 pre-B-cell leukemia homeobox 1 1.08797
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa 1.08762
MT2A metallothionein 2A 1.08655
HSPD1 heat shock 60kDa protein 1 (chaperonin) 1.08549
CXCL2 chemokine (C-X-C motif) ligand 2 1.08301
MSMO1 methylsterol monooxygenase 1 1.08126
NRP1 neuropilin 1 1.08126
SPP1 secreted phosphoprotein 1 1.08091
SLC13A3 solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 1.08019
LDLR low density lipoprotein receptor 1.07983
H19 H19, imprinted maternally expressed transcript (non-protein coding) 1.07983
CHRNA5 cholinergic receptor, nicotinic, alpha 5 (neuronal) 1.07983
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2 1.07911
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain 1.07696
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1.07696
SRC SRC proto-oncogene, non-receptor tyrosine kinase 1.07447
INSR insulin receptor 1.07305
GSTT1 glutathione S-transferase theta 1 1.07305
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2) 1.07269
COX5A cytochrome c oxidase subunit Va 1.07269
FOXQ1 forkhead box Q1 1.07234
AURKB aurora kinase B 1.07093
FSHB follicle stimulating hormone, beta polypeptide 1.06917
PSMD1 proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 1.06917
CCT2 chaperonin containing TCP1, subunit 2 (beta) 1.06917
SLC2A3 solute carrier family 2 (facilitated glucose transporter), member 3 1.06881
PRLR prolactin receptor 1.06881
NGF nerve growth factor (beta polypeptide) 1.06771
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 1.06771
PKNOX2 PBX/knotted 1 homeobox 2 1.06734
FLNB filamin B, beta 1.06734
MKI67 marker of proliferation Ki-67 1.06661
TAGLN transgelin 1.06661
CASP4 caspase 4, apoptosis-related cysteine peptidase 1.06661
GADD45A growth arrest and DNA-damage-inducible, alpha 1.06588
IHH indian hedgehog 1.06515
PDIA3 protein disulfide isomerase family A, member 3 1.06479
HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) 1.06479
CTGF connective tissue growth factor 1.06261
ALAD aminolevulinate dehydratase 1.0608
PLSCR1 phospholipid scramblase 1 1.05828
PDE4DIP phosphodiesterase 4D interacting protein 1.05793
P2RY2 purinergic receptor P2Y, G-protein coupled, 2 1.05793
SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 1.0561
MAP1B microtubule-associated protein 1B 1.05461
GRB10 growth factor receptor-bound protein 10 1.05461
EGR2 early growth response 2 1.05461
TJP1 tight junction protein 1 1.05274
TLR4 toll-like receptor 4 1.05237
HPS1 Hermansky-Pudlak syndrome 1 1.05126
ISLR immunoglobulin superfamily containing leucine-rich repeat 1.05126
S100A9 S100 calcium binding protein A9 1.05089
SPARC secreted protein, acidic, cysteine-rich (osteonectin) 1.05089
G6PC glucose-6-phosphatase, catalytic subunit 1.05052
COL1A1 collagen, type I, alpha 1 1.04831
SRM spermidine synthase 1.04757
CLU clusterin 1.04721
ITGB5 integrin, beta 5 1.04427
IGSF8 immunoglobulin superfamily, member 8 1.04389
SYT7 synaptotagmin VII 1.04352
BCAN brevican 1.04352
BCHE butyrylcholinesterase 1.04352
HBEGF heparin-binding EGF-like growth factor 1.04314
TFRC transferrin receptor 1.04201
HHEX hematopoietically expressed homeobox 1.04163
GRM5 glutamate receptor, metabotropic 5 1.04126
MAL mal, T-cell differentiation protein 1.04088
PAM peptidylglycine alpha-amidating monooxygenase 1.04088
CEBPB CCAAT/enhancer binding protein (C/EBP), beta 1.03976
EFNB2 ephrin-B2 1.03752
LPAR1 lysophosphatidic acid receptor 1 1.03752
ATG3 autophagy related 3 1.03641
OGG1 8-oxoguanine DNA glycosylase 1.03567
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1 1.03567
ICAM1 intercellular adhesion molecule 1 1.03493
INSIG2 insulin induced gene 2 1.03456
ALDH1A1 aldehyde dehydrogenase 1 family, member A1 1.03235
PENK proenkephalin 1.03197
CA2 carbonic anhydrase II 1.03159
RAD51 RAD51 recombinase 1.03159
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 1.03159
GAMT guanidinoacetate N-methyltransferase 1.03122
ARNTL aryl hydrocarbon receptor nuclear translocator-like 1.03122
GNB4 guanine nucleotide binding protein (G protein), beta polypeptide 4 1.02933
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase 1.02858
CDC20 cell division cycle 20 1.02821
CD47 CD47 molecule 1.02821
PCNA proliferating cell nuclear antigen 1.02821
CGA glycoprotein hormones, alpha polypeptide 1.02821
NOL3 nucleolar protein 3 (apoptosis repressor with CARD domain) 1.02783
CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 1.02708
RARA retinoic acid receptor, alpha 1.02634
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group) 1.02522
SLC1A4 solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 1.02485
ARNT aryl hydrocarbon receptor nuclear translocator 1.02447
ADM adrenomedullin 1.02447
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) 1.02299
TH tyrosine hydroxylase 1.02188
AMPD3 adenosine monophosphate deaminase 3 1.02188
FASN fatty acid synthase 1.02151
ANXA5 annexin A5 1.02114
HSPA1A heat shock 70kDa protein 1A 1.0204
CASP9 caspase 9, apoptosis-related cysteine peptidase 1.0204
LPL lipoprotein lipase 1.0204
ACACA acetyl-CoA carboxylase alpha 1.01928
ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha 1.0189
FABP1 fatty acid binding protein 1, liver 1.01739
CCNG1 cyclin G1 1.01739
CCNL2 cyclin L2 1.01701
GRIK3 glutamate receptor, ionotropic, kainate 3 1.01625
PGAM1 phosphoglycerate mutase 1 (brain) 1.01625
RRAD Ras-related associated with diabetes 1.01625
GOLT1B golgi transport 1B 1.01625
ATF5 activating transcription factor 5 1.01587
ABAT 4-aminobutyrate aminotransferase 1.01549
CXCL10 chemokine (C-X-C motif) ligand 10 1.01474
ADIPOR2 adiponectin receptor 2 1.01286
LEF1 lymphoid enhancer-binding factor 1 1.01025
HS6ST2 heparan sulfate 6-O-sulfotransferase 2 1.01025