intellectual disability, mild Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69. (Human Phenotype Ontology, HP_0001256)
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66 genes associated with the intellectual disability, mild phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACTB actin, beta
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
AMER1 APC membrane recruitment protein 1
AP3B1 adaptor-related protein complex 3, beta 1 subunit
ATL1 atlastin GTPase 1
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1
BCOR BCL6 corepressor
BIN1 bridging integrator 1
BLM Bloom syndrome, RecQ helicase-like
BRWD3 bromodomain and WD repeat domain containing 3
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
C12ORF57 chromosome 12 open reading frame 57
CA8 carbonic anhydrase VIII
CAMTA1 calmodulin binding transcription activator 1
CEP57 centrosomal protein 57kDa
CRBN cereblon
DARS aspartyl-tRNA synthetase
DHTKD1 dehydrogenase E1 and transketolase domain containing 1
DLAT dihydrolipoamide S-acetyltransferase
DMD dystrophin
EP300 E1A binding protein p300
ERCC4 excision repair cross-complementation group 4
EYA1 EYA transcriptional coactivator and phosphatase 1
FBN1 fibrillin 1
FGF14 fibroblast growth factor 14
FLNA filamin A, alpha
FTSJ1 FtsJ RNA methyltransferase homolog 1 (E. coli)
GLB1 galactosidase, beta 1
GLI3 GLI family zinc finger 3
GMPPB GDP-mannose pyrophosphorylase B
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GPSM2 G-protein signaling modulator 2
HPD 4-hydroxyphenylpyruvate dioxygenase
JAG1 jagged 1
KIF11 kinesin family member 11
LRP5 low density lipoprotein receptor-related protein 5
MAOA monoamine oxidase A
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MECP2 methyl CpG binding protein 2
MGP matrix Gla protein
MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1
NAGA N-acetylgalactosaminidase, alpha-
NF1 neurofibromin 1
NGF nerve growth factor (beta polypeptide)
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSDHL NAD(P) dependent steroid dehydrogenase-like
PDSS1 prenyl (decaprenyl) diphosphate synthase, subunit 1
PEX11B peroxisomal biogenesis factor 11 beta
PGAP2 post-GPI attachment to proteins 2
POLR3B polymerase (RNA) III (DNA directed) polypeptide B
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTEN phosphatase and tensin homolog
PTPN11 protein tyrosine phosphatase, non-receptor type 11
SBDS Shwachman-Bodian-Diamond syndrome
SHH sonic hedgehog
SOX3 SRY (sex determining region Y)-box 3
SPG20 spastic paraplegia 20 (Troyer syndrome)
SRPX2 sushi-repeat containing protein, X-linked 2
TAC3 tachykinin 3
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TSPAN7 tetraspanin 7
ZC4H2 zinc finger, C4H2 domain containing
ZDHHC15 zinc finger, DHHC-type containing 15