delayed speech and language development Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A degree of language development that is significantly below the norm for a child of a specified age. (Human Phenotype Ontology, HP_0000750)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000750
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Genes

131 genes associated with the delayed speech and language development phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AASS aminoadipate-semialdehyde synthase
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain
ADK adenosine kinase
ADSL adenylosuccinate lyase
AFF2 AF4/FMR2 family, member 2
AGA aspartylglucosaminidase
ALDH5A1 aldehyde dehydrogenase 5 family, member A1
ALDH7A1 aldehyde dehydrogenase 7 family, member A1
AMER1 APC membrane recruitment protein 1
AP4B1 adaptor-related protein complex 4, beta 1 subunit
ARL6 ADP-ribosylation factor-like 6
ARX aristaless related homeobox
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2
AUH AU RNA binding protein/enoyl-CoA hydratase
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
BMP4 bone morphogenetic protein 4
BRWD3 bromodomain and WD repeat domain containing 3
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BTK Bruton agammaglobulinemia tyrosine kinase
C19ORF12 chromosome 19 open reading frame 12
CAMTA1 calmodulin binding transcription activator 1
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CDKL5 cyclin-dependent kinase-like 5
CEP290 centrosomal protein 290kDa
CEP63 centrosomal protein 63kDa
CHKB choline kinase beta
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
COG6 component of oligomeric golgi complex 6
CREBBP CREB binding protein
CUL4B cullin 4B
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DLG3 discs, large homolog 3 (Drosophila)
DPYD dihydropyrimidine dehydrogenase
DPYS dihydropyrimidinase
EFTUD2 elongation factor Tu GTP binding domain containing 2
EHMT1 euchromatic histone-lysine N-methyltransferase 1
EP300 E1A binding protein p300
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FGFR1 fibroblast growth factor receptor 1
FLNA filamin A, alpha
FOXP2 forkhead box P2
FTSJ1 FtsJ RNA methyltransferase homolog 1 (E. coli)
GALE UDP-galactose-4-epimerase
GAMT guanidinoacetate N-methyltransferase
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase)
GMPPB GDP-mannose pyrophosphorylase B
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A
HDAC8 histone deacetylase 8
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10
IFT27 intraflagellar transport 27
IGF1R insulin-like growth factor 1 receptor
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
KANSL1 KAT8 regulatory NSL complex subunit 1
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KMT2A lysine (K)-specific methyltransferase 2A
LRPPRC leucine-rich pentatricopeptide repeat containing
LZTFL1 leucine zipper transcription factor-like 1
MCOLN1 mucolipin 1
MECP2 methyl CpG binding protein 2
MFSD8 major facilitator superfamily domain containing 8
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MTFMT mitochondrial methionyl-tRNA formyltransferase
NDN necdin, melanoma antigen (MAGE) family member
NF1 neurofibromin 1
NIPBL Nipped-B homolog (Drosophila)
NLGN4X neuroligin 4, X-linked
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSD1 nuclear receptor binding SET domain protein 1
NSDHL NAD(P) dependent steroid dehydrogenase-like
OPHN1 oligophrenin 1
PAK3 p21 protein (Cdc42/Rac)-activated kinase 3
PDE4D phosphodiesterase 4D, cAMP-specific
PEX1 peroxisomal biogenesis factor 1
PGK1 phosphoglycerate kinase 1
PIGO phosphatidylinositol glycan anchor biosynthesis, class O
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLP1 proteolipid protein 1
POMT1 protein-O-mannosyltransferase 1
PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator
PTEN phosphatase and tensin homolog
PYCR1 pyrroline-5-carboxylate reductase 1
RAI1 retinoic acid induced 1
RNASET2 ribonuclease T2
SATB2 SATB homeobox 2
SF3B4 splicing factor 3b, subunit 4, 49kDa
SFXN4 sideroflexin 4
SHANK3 SH3 and multiple ankyrin repeat domains 3
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SNRPN small nuclear ribonucleoprotein polypeptide N
SOBP sine oculis binding protein homolog (Drosophila)
SPTBN2 spectrin, beta, non-erythrocytic 2
SRCAP Snf2-related CREBBP activator protein
ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
STXBP1 syntaxin binding protein 1
TBC1D7 TBC1 domain family, member 7
TBX1 T-box 1
TCF4 transcription factor 4
TH tyrosine hydroxylase
THRB thyroid hormone receptor, beta
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TMEM231 transmembrane protein 231
TPP1 tripeptidyl peptidase I
TPRN taperin
TRIM32 tripartite motif containing 32
TSHR thyroid stimulating hormone receptor
TTC8 tetratricopeptide repeat domain 8
TTI2 TELO2 interacting protein 2
TUBB4A tubulin, beta 4A class IVa
UBE3A ubiquitin protein ligase E3A
UBE3B ubiquitin protein ligase E3B
VLDLR very low density lipoprotein receptor
WDPCP WD repeat containing planar cell polarity effector
WDR34 WD repeat domain 34
WDR62 WD repeat domain 62
WDR81 WD repeat domain 81
ZC4H2 zinc finger, C4H2 domain containing
ZDHHC15 zinc finger, DHHC-type containing 15
ZEB2 zinc finger E-box binding homeobox 2