intellectual disability, profound Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Profound mental retardation is defined as an intelligence quotient (IQ) below 20. (Human Phenotype Ontology, HP_0002187)
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30 genes associated with the intellectual disability, profound phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ASXL1 additional sex combs like transcriptional regulator 1
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CDKL5 cyclin-dependent kinase-like 5
CLIC2 chloride intracellular channel 2
ELOVL4 ELOVL fatty acid elongase 4
ERCC6 excision repair cross-complementation group 6
FGFR3 fibroblast growth factor receptor 3
FH fumarate hydratase
FKRP fukutin related protein
HSPD1 heat shock 60kDa protein 1 (chaperonin)
IDS iduronate 2-sulfatase
ISPD isoprenoid synthase domain containing
LARGE like-glycosyltransferase
MECP2 methyl CpG binding protein 2
NDE1 nudE neurodevelopment protein 1
OCLN occludin
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
RAB18 RAB18, member RAS oncogene family
SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
SHROOM4 shroom family member 4
SPTAN1 spectrin, alpha, non-erythrocytic 1
ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3
STRA6 stimulated by retinoic acid 6
TREX1 three prime repair exonuclease 1
TUBA8 tubulin, alpha 8
UBB ubiquitin B