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Browse result for Intellectual disability
※ introduction Intellectual disability (ID), also known as general learning disability (in the United Kingdom) and mental retardation, is a generalized neurodevelopmental disorder characterized by significant impairment in intellectual and adaptive functioning that is first apparent during childhood. Children with intellectual disabilities typically have an intelligence quotient (IQ) below 70 and deficits in at least two adaptive behaviors that affect everyday, general living. According to the DSM-5, intellectual functions include reasoning, problem solving, planning, abstract thinking, judgment, academic learning, and learning from experience. Deficits in these functions must be confirmed by clinical evaluation and individualized standard IQ testing. On the other hand, adaptive behaviors include the social, developmental, and practical skills people learn to perform tasks in their everyday lives. Deficits in adaptive functioning often compromises an individual's independence and ability to meet their social responsibility.
Intellectual disability is subdivided into syndromic intellectual disability, in which intellectual deficits associated with other medical and behavioral signs and symptoms are present, and non-syndromic intellectual disability, in which intellectual deficits appear without other abnormalities. Down syndrome and fragile X syndrome are examples of syndromic intellectual disabilities.
Intellectual disability affects about 2 to 3% of the general population. Seventy-five to ninety percent of the affected people have mild intellectual disability. Non-syndromic, or idiopathic cases account for 30 to 50% of these cases. About a quarter of cases are caused by a genetic disorder, and about 5% of cases are inherited. Cases of unknown cause affect about 95 million people as of 2013.
Reference
Wiki: Intellectual disability
Reference
Wiki: Intellectual disability
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD00506 | P05023 | 476 | ATP1A1 | Sodium/potassium-transporting ATPase subunit alpha-1 /K ATPase alpha-1 subunit) | Homo sapiens |
| PTMD00519 | P09543 | 1267 | CNP | 2',3'-cyclic-nucleotide 3'-phosphodiesterase | Homo sapiens |
| PTMD00556 | P21333 | 2316 | FLNA | Filamin-A | Homo sapiens |
| PTMD00007 | P35222 | 1499 | CTNNB1 | Catenin beta-1 | Homo sapiens |
| PTMD00068 | P42345 | 2475 | MTOR | Serine/threonine-protein kinase mTOR | Homo sapiens |
| PTMD00970 | P52732 | 3832 | KIF11 | Kinesin-like protein KIF11 | Homo sapiens |
| PTMD00086 | P63000 | 5879 | RAC1 | Ras-related C3 botulinum toxin substrate 1 | Homo sapiens |
| PTMD00013 | Q09472 | 2033 | EP300 | Histone acetyltransferase p300 | Homo sapiens |
| PTMD01001 | Q13224 | 2904 | GRIN2B | Glutamate receptor ionotropic, NMDA 2B | Homo sapiens |
| PTMD00680 | Q13554 | 816 | CAMK2B | Calcium/calmodulin-dependent protein kinase type II subunit beta | Homo sapiens |
| PTMD00699 | Q15648 | 5469 | MED1 | Mediator of RNA polymerase II transcription subunit 1 | Homo sapiens |
| PTMD00862 | Q8IXJ9 | 17102 | ASXL1 | Polycomb group protein ASXL1 | Homo sapiens |
| PTMD00748 | Q8NEZ4 | 58508 | KMT2C | Histone-lysine N-methyltransferase 2C | Homo sapiens |
| PTMD00200 | Q92900 | 5976 | UPF1 | Regulator of nonsense transcripts 1 | Homo sapiens |
| PTMD00779 | Q96RK0 | 23152 | CIC | Protein capicua homolog | Homo sapiens |
| PTMD00059 | Q9UQM7 | 815 | CAMK2A | Calcium/calmodulin-dependent protein kinase type II subunit alpha | Homo sapiens |
| PTMD01409 | O14497 | 8289 | ARID1A | AT-rich interactive domain-containing protein 1A | Homo sapiens |
| PTMD01085 | P33151 | 1003 | CDH5 | Cadherin-5 | Homo sapiens |
| PTMD01325 | Q03164 | 4297 | KMT2A | Histone-lysine N-methyltransferase 2A [Cleaved into: MLL cleavage product N320 ; MLL cleavage product C180 ] | Homo sapiens |
| PTMD01732 | Q12756 | 547 | KIF1A | Kinesin-like protein KIF1A | Homo sapiens |
| PTMD01837 | Q8N0W4 | 57502 | NLGN4X | Neuroligin-4, X-linked | Homo sapiens |
| PTMD01194 | Q9UQE7 | 9126 | SMC3 | Structural maintenance of chromosomes protein 3 | Homo sapiens |
| PTMD01383 | O75015 | 2215 | FCGR3B | Low affinity immunoglobulin gamma Fc region receptor III-B | Homo sapiens |
| PTMD02374 | O14529 | 23316 | CUX2 | Homeobox protein cut-like 2 | Homo sapiens |
| PTMD02505 | O15078 | 80184 | CEP290 | Centrosomal protein of 290 kDa | Homo sapiens |
| PTMD02825 | O60244 | 9282 | MED14 | Mediator of RNA polymerase II transcription subunit 14 | Homo sapiens |
| PTMD02834 | O60271 | 9043 | SPAG9 | C-Jun-amino-terminal kinase-interacting protein 4 | Homo sapiens |
| PTMD02889 | O60506 | 10492 | SYNCRIP | Heterogeneous nuclear ribonucleoprotein Q | Homo sapiens |
| PTMD02947 | O60828 | 10084 | PQBP1 | Polyglutamine-binding protein 1 | Homo sapiens |
| PTMD03158 | O75665 | 8481 | OFD1 | Centriole and centriolar satellite protein OFD1 | Homo sapiens |
| PTMD03212 | O75914 | 5063 | PAK3 | Serine/threonine-protein kinase PAK 3 | Homo sapiens |
| PTMD03723 | P04350 | 10382 | TUBB4A | Tubulin beta-4A chain | Homo sapiens |
| PTMD04111 | P12270 | 7175 | TPR | Nucleoprotein TPR | Homo sapiens |
| PTMD04123 | P12694 | 593 | BCKDHA | 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial | Homo sapiens |
| PTMD04150 | P13637 | 478 | ATP1A3 | Sodium/potassium-transporting ATPase subunit alpha-3 /K ATPase alpha-3 subunit) /K ATPase alpha subunit) | Homo sapiens |
| PTMD04269 | P16278 | 2720 | GLB1 | Beta-galactosidase | Homo sapiens |
| PTMD04757 | P30038 | 8659 | ALDH4A1 | Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial | Homo sapiens |
| PTMD04826 | P31629 | 3097 | HIVEP2 | Transcription factor HIVEP2 | Homo sapiens |
| PTMD05061 | P41227 | 8260 | NAA10 | N-alpha-acetyltransferase 10 | Homo sapiens |
| PTMD05088 | P42285 | 23517 | MTREX | Exosome RNA helicase MTR4 | Homo sapiens |
| PTMD05105 | P42695 | 23310 | NCAPD3 | Condensin-2 complex subunit D3 | Homo sapiens |
| PTMD05173 | P46100 | 546 | ATRX | Transcriptional regulator ATRX | Homo sapiens |
| PTMD05199 | P47755 | 830 | CAPZA2 | F-actin-capping protein subunit alpha-2 | Homo sapiens |
| PTMD05203 | P47870 | 2561 | GABRB2 | Gamma-aminobutyric acid receptor subunit beta-2 receptor subunit beta-2) | Homo sapiens |
| PTMD05302 | P49419 | 501 | ALDH7A1 | Alpha-aminoadipic semialdehyde dehydrogenase | Homo sapiens |
| PTMD05431 | P51531 | 6595 | SMARCA2 | Probable global transcription activator SNF2L2 | Homo sapiens |
| PTMD05442 | P51649 | 7915 | ALDH5A1 | Succinate-semialdehyde dehydrogenase, mitochondrial -dependent succinic semialdehyde dehydrogenase) | Homo sapiens |
| PTMD05471 | P51816 | 2334 | AFF2 | AF4/FMR2 family member 2 | Homo sapiens |
| PTMD05526 | P52848 | 3340 | NDST1 | Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 [Includes: Heparan sulfate N-deacetylase 1 ; Heparan sulfate N-sulfotransferase 1 ] | Homo sapiens |
| PTMD05591 | P54802 | 4669 | NAGLU | Alpha-N-acetylglucosaminidase [Cleaved into: Alpha-N-acetylglucosaminidase 82 kDa form; Alpha-N-acetylglucosaminidase 77 kDa form] | Homo sapiens |
| PTMD05629 | P55201 | 7862 | BRPF1 | Peregrin | Homo sapiens |
| PTMD05768 | P60709 | 60 | ACTB | Actin, cytoplasmic 1 [Cleaved into: Actin, cytoplasmic 1, N-terminally processed] | Homo sapiens |
| PTMD05821 | P61764 | 6812 | STXBP1 | Syntaxin-binding protein 1 | Homo sapiens |
| PTMD06049 | P98164 | 4036 | LRP2 | Low-density lipoprotein receptor-related protein 2 | Homo sapiens |
| PTMD06055 | P98174 | 2245 | FGD1 | FYVE, RhoGEF and PH domain-containing protein 1 | Homo sapiens |
| PTMD06119 | Q01668 | 776 | CACNA1D | Voltage-dependent L-type calcium channel subunit alpha-1D | Homo sapiens |
| PTMD06317 | Q08J23 | 54888 | NSUN2 | RNA cytosine C-methyltransferase NSUN2 -methyltransferase) -methyltransferase) | Homo sapiens |
| PTMD06395 | Q12873 | 1107 | CHD3 | Chromodomain-helicase-DNA-binding protein 3 | Homo sapiens |
| PTMD06604 | Q13635 | 5727 | PTCH1 | Protein patched homolog 1 | Homo sapiens |
| PTMD06656 | Q14004 | 8621 | CDK13 | Cyclin-dependent kinase 13 | Homo sapiens |
| PTMD06686 | Q14147 | 9704 | DHX34 | Probable ATP-dependent RNA helicase DHX34 | Homo sapiens |
| PTMD06708 | Q14204 | 1778 | DYNC1H1 | Cytoplasmic dynein 1 heavy chain 1 | Homo sapiens |
| PTMD06826 | Q14839 | 1108 | CHD4 | Chromodomain-helicase-DNA-binding protein 4 | Homo sapiens |
| PTMD06893 | Q15052 | 9459 | ARHGEF6 | Rho guanine nucleotide exchange factor 6 | Homo sapiens |
| PTMD06936 | Q15326 | 10771 | ZMYND11 | Zinc finger MYND domain-containing protein 11 | Homo sapiens |
| PTMD07228 | Q2M1P5 | 37465 | KIF7 | Kinesin-like protein KIF7 | Homo sapiens |
| PTMD07596 | Q5JRC9 | 15872 | FAM47A | Protein FAM47A | Homo sapiens |
| PTMD07828 | Q5TGY3 | 27245 | AHDC1 | Transcription factor Gibbin | Homo sapiens |
| PTMD08140 | Q6KC79 | 25836 | NIPBL | Nipped-B-like protein | Homo sapiens |
| PTMD08378 | Q6T4R5 | 4810 | NHS | Actin remodeling regulator NHS | Homo sapiens |
| PTMD08471 | Q6W2J9 | 54880 | BCOR | BCL-6 corepressor | Homo sapiens |
| PTMD08653 | Q71F56 | 23389 | MED13L | Mediator of RNA polymerase II transcription subunit 13-like | Homo sapiens |
| PTMD08904 | Q7Z6Z7 | 10075 | HUWE1 | E3 ubiquitin-protein ligase HUWE1 | Homo sapiens |
| PTMD09065 | Q86VP3 | 23241 | PACS2 | Phosphofurin acidic cluster sorting protein 2 | Homo sapiens |
| PTMD09406 | Q8IY37 | 57647 | DHX37 | Probable ATP-dependent RNA helicase DHX37 | Homo sapiens |
| PTMD09513 | Q8IZT6 | 25926 | ASPM | Abnormal spindle-like microcephaly-associated protein | Homo sapiens |
| PTMD09564 | Q8N157 | 54806 | AHI1 | Jouberin | Homo sapiens |
| PTMD09696 | Q8N4T0 | 57094 | CPA6 | Carboxypeptidase A6 | Homo sapiens |
| PTMD10053 | Q8NEM0 | 79648 | MCPH1 | Microcephalin | Homo sapiens |
| PTMD10087 | Q8NF91 | 23345 | SYNE1 | Nesprin-1 | Homo sapiens |
| PTMD10092 | Q8NFD5 | 57492 | ARID1B | AT-rich interactive domain-containing protein 1B | Homo sapiens |
| PTMD10361 | Q8TD30 | 84706 | GPT2 | Alanine aminotransferase 2 | Homo sapiens |
| PTMD10615 | Q8WWM7 | 11273 | ATXN2L | Ataxin-2-like protein | Homo sapiens |
| PTMD10668 | Q8WXX7 | 26053 | AUTS2 | Autism susceptibility gene 2 protein | Homo sapiens |
| PTMD10677 | Q8WYB5 | 23522 | KAT6B | Histone acetyltransferase KAT6B | Homo sapiens |
| PTMD10764 | Q92621 | 23165 | NUP205 | Nuclear pore complex protein Nup205 | Homo sapiens |
| PTMD10806 | Q92793 | 1387 | CREBBP | CREB-binding protein | Homo sapiens |
| PTMD10807 | Q92794 | 7994 | KAT6A | Histone acetyltransferase KAT6A | Homo sapiens |
| PTMD10808 | Q92796 | 1741 | DLG3 | Disks large homolog 3 | Homo sapiens |
| PTMD10857 | Q92947 | 2639 | GCDH | Glutaryl-CoA dehydrogenase, mitochondrial | Homo sapiens |
| PTMD11319 | Q96HP0 | 57572 | DOCK6 | Dedicator of cytokinesis protein 6 | Homo sapiens |
| PTMD11398 | Q96JM3 | 28348 | CHAMP1 | Chromosome alignment-maintaining phosphoprotein 1 | Homo sapiens |
| PTMD11651 | Q96PV0 | 8831 | SYNGAP1 | Ras/Rap GTPase-activating protein SynGAP | Homo sapiens |
| PTMD11763 | Q96SN8 | 55755 | CDK5RAP2 | CDK5 regulatory subunit-associated protein 2 | Homo sapiens |
| PTMD11875 | Q99707 | 4548 | MTR | Methionine synthase | Homo sapiens |
| PTMD12142 | Q9BUH8 | 57596 | BEGAIN | Brain-enriched guanylate kinase-associated protein | Homo sapiens |
| PTMD12332 | Q9BY41 | 55869 | HDAC8 | Histone deacetylase 8 | Homo sapiens |
| PTMD12705 | Q9H2P0 | 23394 | ADNP | Activity-dependent neuroprotector homeobox protein | Homo sapiens |
| PTMD12728 | Q9H334 | 27086 | FOXP1 | Forkhead box protein P1 | Homo sapiens |
| PTMD12786 | Q9H4G0 | 2036 | EPB41L1 | Band 4.1-like protein 1 | Homo sapiens |
| PTMD12982 | Q9H9B1 | 79813 | EHMT1 | Histone-lysine N-methyltransferase EHMT1 | Homo sapiens |
| PTMD13916 | Q9P2D1 | 55636 | CHD7 | Chromodomain-helicase-DNA-binding protein 7 | Homo sapiens |
| PTMD13955 | Q9P2P5 | 57520 | HECW2 | E3 ubiquitin-protein ligase HECW2 | Homo sapiens |
| PTMD14006 | Q9UBM7 | 1717 | DHCR7 | 7-dehydrocholesterol reductase -reductase) | Homo sapiens |
| PTMD14094 | Q9UGL1 | 10765 | KDM5B | Lysine-specific demethylase 5B demethylase 5B) | Homo sapiens |
| PTMD14105 | Q9UGU0 | 6942 | TCF20 | Transcription factor 20 | Homo sapiens |
| PTMD14316 | Q9UKM7 | 11253 | MAN1B1 | Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase | Homo sapiens |
| PTMD14386 | Q9ULH0 | 57498 | KIDINS220 | Kinase D-interacting substrate of 220 kDa | Homo sapiens |
| PTMD14454 | Q9UMN6 | 9757 | KMT2B | Histone-lysine N-methyltransferase 2B | Homo sapiens |
| PTMD14668 | Q9Y2H9 | 22983 | MAST1 | Microtubule-associated serine/threonine-protein kinase 1 | Homo sapiens |
| PTMD14853 | Q9Y4I1 | 4644 | MYO5A | Unconventional myosin-Va | Homo sapiens |
| PTMD15103 | Q9Y6Y1 | 23261 | CAMTA1 | Calmodulin-binding transcription activator 1 | Homo sapiens |
