intellectual disability, moderate Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49. (Human Phenotype Ontology, HP_0002342)
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22 genes associated with the intellectual disability, moderate phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AKT1 v-akt murine thymoma viral oncogene homolog 1
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CC2D2A coiled-coil and C2 domain containing 2A
CDK5RAP2 CDK5 regulatory subunit associated protein 2
CENPJ centromere protein J
EBP emopamil binding protein (sterol isomerase)
EGF epidermal growth factor
FGFR2 fibroblast growth factor receptor 2
FMR1 fragile X mental retardation 1
IL1RAPL1 interleukin 1 receptor accessory protein-like 1
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
MAN1B1 mannosidase, alpha, class 1B, member 1
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
PAX1 paired box 1
PTDSS1 phosphatidylserine synthase 1
RTTN rotatin
SHANK3 SH3 and multiple ankyrin repeat domains 3
TMEM67 transmembrane protein 67
TUBB3 tubulin, beta 3 class III
TWIST1 twist family bHLH transcription factor 1
ZEB2 zinc finger E-box binding homeobox 2