specific developmental disorder Gene Set

Dataset DISEASES Experimental Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination. (Human Disease Ontology, DOID_0060038)
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Genes

205 genes associated with the disease specific developmental disorder in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
C1QTNF7 C1q and tumor necrosis factor related protein 7 0.58494
NCL nucleolin 0.552621
RBM26 RNA binding motif protein 26 0.52461
MOBP myelin-associated oligodendrocyte basic protein 0.52461
GPC6 glypican 6 0.52461
KIF16B kinesin family member 16B 0.52461
FAT3 FAT atypical cadherin 3 0.52461
PCSK6 proprotein convertase subtilisin/kexin type 6 0.486425
COL27A1 collagen, type XXVII, alpha 1 0.464771
ELSPBP1 epididymal sperm binding protein 1 0.464771
CABP5 calcium binding protein 5 0.464771
PAX5 paired box 5 0.449873
CTSO cathepsin O 0.438544
BZW1 basic leucine zipper and W2 domains 1 0.429338
AK8 adenylate kinase 8 0.429338
PISD phosphatidylserine decarboxylase 0.4215
PRR14L proline rich 14-like 0.4215
RXRA retinoid X receptor, alpha 0.414708
LUZP2 leucine zipper protein 2 0.414708
COL1A2 collagen, type I, alpha 2 0.408752
AKR1C4 aldo-keto reductase family 1, member C4 0.408752
CNTN4 contactin 4 0.403461
ASTN2 astrotactin 2 0.403461
ITGAE integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) 0.403461
RDH14 retinol dehydrogenase 14 (all-trans/9-cis/11-cis) 0.403461
ITGA11 integrin, alpha 11 0.403461
MAP3K7 mitogen-activated protein kinase kinase kinase 7 0.345945
ZNF365 zinc finger protein 365 0.345945
TSHZ1 teashirt zinc finger homeobox 1 0.345945
CSMD2 CUB and Sushi multiple domains 2 0.311576
DEPDC5 DEP domain containing 5 0.311576
EMP2 epithelial membrane protein 2 0.285417
MIR99AHG mir-99a-let-7c cluster host gene 0.285417
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2 0.274608
ATP2C2 ATPase, Ca++ transporting, type 2C, member 2 0.274608
PTHLH parathyroid hormone-like hormone 0.274608
PIWIL4 piwi-like RNA-mediated gene silencing 4 0.264872
GRM5 glutamate receptor, metabotropic 5 0.256228
FLNB filamin B, beta 0.256228
PDE10A phosphodiesterase 10A 0.256228
RNF144B ring finger protein 144B 0.256228
SHFM1 split hand/foot malformation (ectrodactyly) type 1 0.256228
TSPAN7 tetraspanin 7 0.256228
FERMT3 fermitin family member 3 0.256228
MAN2A2 mannosidase, alpha, class 2A, member 2 0.256228
CEP112 centrosomal protein 112kDa 0.256228
CHODL chondrolectin 0.256228
CSRP2BP CSRP2 binding protein 0.197766
SAYSD1 SAYSVFN motif domain containing 1 0.197766
PERP PERP, TP53 apoptosis effector 0.197766
FLG2 filaggrin family member 2 0.197766
MTMR3 myotubularin related protein 3 0.197766
BMPR1B bone morphogenetic protein receptor, type IB 0.197766
SLC46A3 solute carrier family 46, member 3 0.197766
MTA3 metastasis associated 1 family, member 3 0.197766
CWC15 CWC15 spliceosome-associated protein 0.197766
TUSC3 tumor suppressor candidate 3 0.197766
DNM1 dynamin 1 0.197766
SLCO4C1 solute carrier organic anion transporter family, member 4C1 0.197766
ZNF804B zinc finger protein 804B 0.197766
ZNF385D zinc finger protein 385D 0.197766
RDH10 retinol dehydrogenase 10 (all-trans) 0.197766
LPL lipoprotein lipase 0.197766
GRID1 glutamate receptor, ionotropic, delta 1 0.197766
KIF6 kinesin family member 6 0.197766
TLL2 tolloid-like 2 0.197766
ARHGAP22 Rho GTPase activating protein 22 0.197766
DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila) 0.197766
PRM1 protamine 1 0.197766
IMMP2L IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) 0.197766
MAP1B microtubule-associated protein 1B 0.197766
SELPLG selectin P ligand 0.15771
PDE8A phosphodiesterase 8A 0.15771
TFEB transcription factor EB 0.15771
PAPD7 PAP associated domain containing 7 0.15771
ZNF423 zinc finger protein 423 0.15771
CHCHD2P9 coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 9 0.15771
C10ORF11 chromosome 10 open reading frame 11 0.15771
CATSPER3 cation channel, sperm associated 3 0.15771
SLCO3A1 solute carrier organic anion transporter family, member 3A1 0.15771
CHMP7 charged multivesicular body protein 7 0.15771
NCKAP5 NCK-associated protein 5 0.15771
CCNL1 cyclin L1 0.15771
RUFY1 RUN and FYVE domain containing 1 0.15771
FAM19A3 family with sequence similarity 19 (chemokine (C-C motif)-like), member A3 0.15771
ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila) 0.15771
TMX3 thioredoxin-related transmembrane protein 3 0.15771
ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide 0.15771
MCTP1 multiple C2 domains, transmembrane 1 0.15771
HAS3 hyaluronan synthase 3 0.126165
LRRC7 leucine rich repeat containing 7 0.126165
UGT1A3 UDP glucuronosyltransferase 1 family, polypeptide A3 0.126165
EIF6 eukaryotic translation initiation factor 6 0.126165
CAMK1D calcium/calmodulin-dependent protein kinase ID 0.126165
ATOH7 atonal homolog 7 (Drosophila) 0.126165
MMP24 matrix metallopeptidase 24 (membrane-inserted) 0.126165
IFI44 interferon-induced protein 44 0.126165
PAWR PRKC, apoptosis, WT1, regulator 0.126165
TMEM106B transmembrane protein 106B 0.126165
CNOT10 CCR4-NOT transcription complex, subunit 10 0.126165
MEIS2 Meis homeobox 2 0.126165
IL16 interleukin 16 0.126165
UNC5B unc-5 homolog B (C. elegans) 0.126165
COG2 component of oligomeric golgi complex 2 0.126165
MACROD2 MACRO domain containing 2 0.126165
CFAP43 cilia and flagella associated protein 43 0.126165
NAV2 neuron navigator 2 0.126165
TRPT1 tRNA phosphotransferase 1 0.126165
GRIK1 glutamate receptor, ionotropic, kainate 1 0.126165
KLHL8 kelch-like family member 8 0.126165
STIP1 stress-induced phosphoprotein 1 0.126165
TYRP1 tyrosinase-related protein 1 0.100789
DMRT2 doublesex and mab-3 related transcription factor 2 0.100789
ASB3 ankyrin repeat and SOCS box containing 3 0.100789
KCNJ3 potassium channel, inwardly rectifying subfamily J, member 3 0.100789
CLYBL citrate lyase beta like 0.100789
ARSB arylsulfatase B 0.100789
RPS26P6 ribosomal protein S26 pseudogene 6 0.100789
DEPDC1 DEP domain containing 1 0.100789
NT5DC3 5'-nucleotidase domain containing 3 0.100789
SUPT3H suppressor of Ty 3 homolog (S. cerevisiae) 0.100789
CREB5 cAMP responsive element binding protein 5 0.100789
C7ORF60 chromosome 7 open reading frame 60 0.100789
ISX intestine-specific homeobox 0.100789
SH2D3C SH2 domain containing 3C 0.100789
C1ORF143 chromosome 1 open reading frame 143 0.100789
LINC00587 long intergenic non-protein coding RNA 587 0.100789
SMIM21 small integral membrane protein 21 0.100789
C9ORF62 chromosome 9 open reading frame 62 0.080593
LINC00595 long intergenic non-protein coding RNA 595 0.080593
AKAP6 A kinase (PRKA) anchor protein 6 0.080593
MAGI3 membrane associated guanylate kinase, WW and PDZ domain containing 3 0.080593
SHC4 SHC (Src homology 2 domain containing) family, member 4 0.080593
MFHAS1 malignant fibrous histiocytoma amplified sequence 1 0.080593
THSD7A thrombospondin, type I, domain containing 7A 0.080593
TOX2 TOX high mobility group box family member 2 0.080593
COL23A1 collagen, type XXIII, alpha 1 0.080593
SLC6A1 solute carrier family 6 (neurotransmitter transporter), member 1 0.080593
POLR3B polymerase (RNA) III (DNA directed) polypeptide B 0.080593
SLC9A9 solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 0.080593
PCDH7 protocadherin 7 0.080593
PHEX phosphate regulating endopeptidase homolog, X-linked 0.080593
ERCC4 excision repair cross-complementation group 4 0.080593
FOXP1 forkhead box P1 0.080593
NTNG1 netrin G1 0.080593
RIT1 Ras-like without CAAX 1 0.064973
WWOX WW domain containing oxidoreductase 0.064973
GRIK4 glutamate receptor, ionotropic, kainate 4 0.064973
TRIQK triple QxxK/R motif containing 0.064973
PIH2 pregnancy-induced hypertension syndrome-related protein 0.064973
GLRX3 glutaredoxin 3 0.064973
PPM1K protein phosphatase, Mg2+/Mn2+ dependent, 1K 0.064973
SLC7A2 solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 0.064973
ZNF805 zinc finger protein 805 0.064973
SHFM1P1 split hand/foot malformation (ectrodactyly) type 1 pseudogene 1 0.064973
CCDC69 coiled-coil domain containing 69 0.064973
SGPP2 sphingosine-1-phosphate phosphatase 2 0.064973
MYRFL myelin regulatory factor-like 0.064973
BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) 0.064973
PKD1L3 polycystic kidney disease 1-like 3 0.064973
ZNF330 zinc finger protein 330 0.064973
PRMT6 protein arginine methyltransferase 6 0.064973
SULF2 sulfatase 2 0.064973
CDH13 cadherin 13 0.064973
SYT4 synaptotagmin IV 0.064973
GATAD2B GATA zinc finger domain containing 2B 0.052255
WT1-AS WT1 antisense RNA 0.052255
ELOVL6 ELOVL fatty acid elongase 6 0.052255
GADL1 glutamate decarboxylase-like 1 0.052255
FHIT fragile histidine triad 0.052255
FSTL4 follistatin-like 4 0.052255
CDC42EP3 CDC42 effector protein (Rho GTPase binding) 3 0.052255
REEP5 receptor accessory protein 5 0.052255
NOS1 nitric oxide synthase 1 (neuronal) 0.052255
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 0.052255
TRA2B transformer 2 beta homolog (Drosophila) 0.052255
MSRA methionine sulfoxide reductase A 0.052255
TSHZ2 teashirt zinc finger homeobox 2 0.052255
HDGFL1 hepatoma derived growth factor-like 1 0.052255
FAM155A family with sequence similarity 155, member A 0.052255
FAM189A1 family with sequence similarity 189, member A1 0.052255
CRYGC crystallin, gamma C 0.052255
NBAS neuroblastoma amplified sequence 0.052255
ZNF544 zinc finger protein 544 0.052255
CC2D2A coiled-coil and C2 domain containing 2A 0.052255
SEMA6D sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 0.052255
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 0.052255
EREG epiregulin 0.052255
MYT1L myelin transcription factor 1-like 0.052255
CDH9 cadherin 9, type 2 (T1-cadherin) 0.052255
ETV3 ets variant 3 0.052255
DPP10 dipeptidyl-peptidase 10 (non-functional) 0.043246
QSOX1 quiescin Q6 sulfhydryl oxidase 1 0.043246
VGLL4 vestigial-like family member 4 0.043246
LPCAT3 lysophosphatidylcholine acyltransferase 3 0.043246
RGL1 ral guanine nucleotide dissociation stimulator-like 1 0.043246
NAPRT nicotinate phosphoribosyltransferase 0.043246
PITRM1 pitrilysin metallopeptidase 1 0.043246
ZMAT4 zinc finger, matrin-type 4 0.043246
LRP2 low density lipoprotein receptor-related protein 2 0.043246
CNR1 cannabinoid receptor 1 (brain) 0.043246
OLIG2 oligodendrocyte lineage transcription factor 2 0.043246
ALDH4A1 aldehyde dehydrogenase 4 family, member A1 0.043246
PICALM phosphatidylinositol binding clathrin assembly protein 0.043246
ZBTB16 zinc finger and BTB domain containing 16 0.043246