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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



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD00506P05023476
ATP1A1
Sodium/potassium-transporting ATPase subunit alpha-1 /K ATPase alpha-1 subunit)
Homo sapiens
PTMD00519P095431267
CNP
2',3'-cyclic-nucleotide 3'-phosphodiesterase
Homo sapiens
PTMD00556P213332316
FLNA
Filamin-A
Homo sapiens
PTMD00007P352221499
CTNNB1
Catenin beta-1
Homo sapiens
PTMD00068P423452475
MTOR
Serine/threonine-protein kinase mTOR
Homo sapiens
PTMD00970P527323832
KIF11
Kinesin-like protein KIF11
Homo sapiens
PTMD00086P630005879
RAC1
Ras-related C3 botulinum toxin substrate 1
Homo sapiens
PTMD00013Q094722033
EP300
Histone acetyltransferase p300
Homo sapiens
PTMD01001Q132242904
GRIN2B
Glutamate receptor ionotropic, NMDA 2B
Homo sapiens
PTMD00680Q13554816
CAMK2B
Calcium/calmodulin-dependent protein kinase type II subunit beta
Homo sapiens
PTMD00699Q156485469
MED1
Mediator of RNA polymerase II transcription subunit 1
Homo sapiens
PTMD00862Q8IXJ917102
ASXL1
Polycomb group protein ASXL1
Homo sapiens
PTMD00748Q8NEZ458508
KMT2C
Histone-lysine N-methyltransferase 2C
Homo sapiens
PTMD00200Q929005976
UPF1
Regulator of nonsense transcripts 1
Homo sapiens
PTMD00779Q96RK023152
CIC
Protein capicua homolog
Homo sapiens
PTMD00059Q9UQM7815
CAMK2A
Calcium/calmodulin-dependent protein kinase type II subunit alpha
Homo sapiens
PTMD01409O144978289
ARID1A
AT-rich interactive domain-containing protein 1A
Homo sapiens
PTMD01085P331511003
CDH5
Cadherin-5
Homo sapiens
PTMD01325Q031644297
KMT2A
Histone-lysine N-methyltransferase 2A [Cleaved into: MLL cleavage product N320 ; MLL cleavage product C180 ]
Homo sapiens
PTMD01732Q12756547
KIF1A
Kinesin-like protein KIF1A
Homo sapiens
PTMD01837Q8N0W457502
NLGN4X
Neuroligin-4, X-linked
Homo sapiens
PTMD01194Q9UQE79126
SMC3
Structural maintenance of chromosomes protein 3
Homo sapiens
PTMD01383O750152215
FCGR3B
Low affinity immunoglobulin gamma Fc region receptor III-B
Homo sapiens
PTMD02374O1452923316
CUX2
Homeobox protein cut-like 2
Homo sapiens
PTMD02505O1507880184
CEP290
Centrosomal protein of 290 kDa
Homo sapiens
PTMD02825O602449282
MED14
Mediator of RNA polymerase II transcription subunit 14
Homo sapiens
PTMD02834O602719043
SPAG9
C-Jun-amino-terminal kinase-interacting protein 4
Homo sapiens
PTMD02889O6050610492
SYNCRIP
Heterogeneous nuclear ribonucleoprotein Q
Homo sapiens
PTMD02947O6082810084
PQBP1
Polyglutamine-binding protein 1
Homo sapiens
PTMD03158O756658481
OFD1
Centriole and centriolar satellite protein OFD1
Homo sapiens
PTMD03212O759145063
PAK3
Serine/threonine-protein kinase PAK 3
Homo sapiens
PTMD03723P0435010382
TUBB4A
Tubulin beta-4A chain
Homo sapiens
PTMD04111P122707175
TPR
Nucleoprotein TPR
Homo sapiens
PTMD04123P12694593
BCKDHA
2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial
Homo sapiens
PTMD04150P13637478
ATP1A3
Sodium/potassium-transporting ATPase subunit alpha-3 /K ATPase alpha-3 subunit) /K ATPase alpha subunit)
Homo sapiens
PTMD04269P162782720
GLB1
Beta-galactosidase
Homo sapiens
PTMD04757P300388659
ALDH4A1
Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial
Homo sapiens
PTMD04826P316293097
HIVEP2
Transcription factor HIVEP2
Homo sapiens
PTMD05061P412278260
NAA10
N-alpha-acetyltransferase 10
Homo sapiens
PTMD05088P4228523517
MTREX
Exosome RNA helicase MTR4
Homo sapiens
PTMD05105P4269523310
NCAPD3
Condensin-2 complex subunit D3
Homo sapiens
PTMD05173P46100546
ATRX
Transcriptional regulator ATRX
Homo sapiens
PTMD05199P47755830
CAPZA2
F-actin-capping protein subunit alpha-2
Homo sapiens
PTMD05203P478702561
GABRB2
Gamma-aminobutyric acid receptor subunit beta-2 receptor subunit beta-2)
Homo sapiens
PTMD05302P49419501
ALDH7A1
Alpha-aminoadipic semialdehyde dehydrogenase
Homo sapiens
PTMD05431P515316595
SMARCA2
Probable global transcription activator SNF2L2
Homo sapiens
PTMD05442P516497915
ALDH5A1
Succinate-semialdehyde dehydrogenase, mitochondrial -dependent succinic semialdehyde dehydrogenase)
Homo sapiens
PTMD05471P518162334
AFF2
AF4/FMR2 family member 2
Homo sapiens
PTMD05526P528483340
NDST1
Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 [Includes: Heparan sulfate N-deacetylase 1 ; Heparan sulfate N-sulfotransferase 1 ]
Homo sapiens
PTMD05591P548024669
NAGLU
Alpha-N-acetylglucosaminidase [Cleaved into: Alpha-N-acetylglucosaminidase 82 kDa form; Alpha-N-acetylglucosaminidase 77 kDa form]
Homo sapiens
PTMD05629P552017862
BRPF1
Peregrin
Homo sapiens
PTMD05768P6070960
ACTB
Actin, cytoplasmic 1 [Cleaved into: Actin, cytoplasmic 1, N-terminally processed]
Homo sapiens
PTMD05821P617646812
STXBP1
Syntaxin-binding protein 1
Homo sapiens
PTMD06049P981644036
LRP2
Low-density lipoprotein receptor-related protein 2
Homo sapiens
PTMD06055P981742245
FGD1
FYVE, RhoGEF and PH domain-containing protein 1
Homo sapiens
PTMD06119Q01668776
CACNA1D
Voltage-dependent L-type calcium channel subunit alpha-1D
Homo sapiens
PTMD06317Q08J2354888
NSUN2
RNA cytosine C-methyltransferase NSUN2 -methyltransferase) -methyltransferase)
Homo sapiens
PTMD06395Q128731107
CHD3
Chromodomain-helicase-DNA-binding protein 3
Homo sapiens
PTMD06604Q136355727
PTCH1
Protein patched homolog 1
Homo sapiens
PTMD06656Q140048621
CDK13
Cyclin-dependent kinase 13
Homo sapiens
PTMD06686Q141479704
DHX34
Probable ATP-dependent RNA helicase DHX34
Homo sapiens
PTMD06708Q142041778
DYNC1H1
Cytoplasmic dynein 1 heavy chain 1
Homo sapiens
PTMD06826Q148391108
CHD4
Chromodomain-helicase-DNA-binding protein 4
Homo sapiens
PTMD06893Q150529459
ARHGEF6
Rho guanine nucleotide exchange factor 6
Homo sapiens
PTMD06936Q1532610771
ZMYND11
Zinc finger MYND domain-containing protein 11
Homo sapiens
PTMD07228Q2M1P537465
KIF7
Kinesin-like protein KIF7
Homo sapiens
PTMD07596Q5JRC915872
FAM47A
Protein FAM47A
Homo sapiens
PTMD07828Q5TGY327245
AHDC1
Transcription factor Gibbin
Homo sapiens
PTMD08140Q6KC7925836
NIPBL
Nipped-B-like protein
Homo sapiens
PTMD08378Q6T4R54810
NHS
Actin remodeling regulator NHS
Homo sapiens
PTMD08471Q6W2J954880
BCOR
BCL-6 corepressor
Homo sapiens
PTMD08653Q71F5623389
MED13L
Mediator of RNA polymerase II transcription subunit 13-like
Homo sapiens
PTMD08904Q7Z6Z710075
HUWE1
E3 ubiquitin-protein ligase HUWE1
Homo sapiens
PTMD09065Q86VP323241
PACS2
Phosphofurin acidic cluster sorting protein 2
Homo sapiens
PTMD09406Q8IY3757647
DHX37
Probable ATP-dependent RNA helicase DHX37
Homo sapiens
PTMD09513Q8IZT625926
ASPM
Abnormal spindle-like microcephaly-associated protein
Homo sapiens
PTMD09564Q8N15754806
AHI1
Jouberin
Homo sapiens
PTMD09696Q8N4T057094
CPA6
Carboxypeptidase A6
Homo sapiens
PTMD10053Q8NEM079648
MCPH1
Microcephalin
Homo sapiens
PTMD10087Q8NF9123345
SYNE1
Nesprin-1
Homo sapiens
PTMD10092Q8NFD557492
ARID1B
AT-rich interactive domain-containing protein 1B
Homo sapiens
PTMD10361Q8TD3084706
GPT2
Alanine aminotransferase 2
Homo sapiens
PTMD10615Q8WWM711273
ATXN2L
Ataxin-2-like protein
Homo sapiens
PTMD10668Q8WXX726053
AUTS2
Autism susceptibility gene 2 protein
Homo sapiens
PTMD10677Q8WYB523522
KAT6B
Histone acetyltransferase KAT6B
Homo sapiens
PTMD10764Q9262123165
NUP205
Nuclear pore complex protein Nup205
Homo sapiens
PTMD10806Q927931387
CREBBP
CREB-binding protein
Homo sapiens
PTMD10807Q927947994
KAT6A
Histone acetyltransferase KAT6A
Homo sapiens
PTMD10808Q927961741
DLG3
Disks large homolog 3
Homo sapiens
PTMD10857Q929472639
GCDH
Glutaryl-CoA dehydrogenase, mitochondrial
Homo sapiens
PTMD11319Q96HP057572
DOCK6
Dedicator of cytokinesis protein 6
Homo sapiens
PTMD11398Q96JM328348
CHAMP1
Chromosome alignment-maintaining phosphoprotein 1
Homo sapiens
PTMD11651Q96PV08831
SYNGAP1
Ras/Rap GTPase-activating protein SynGAP
Homo sapiens
PTMD11763Q96SN855755
CDK5RAP2
CDK5 regulatory subunit-associated protein 2
Homo sapiens
PTMD11875Q997074548
MTR
Methionine synthase
Homo sapiens
PTMD12142Q9BUH857596
BEGAIN
Brain-enriched guanylate kinase-associated protein
Homo sapiens
PTMD12332Q9BY4155869
HDAC8
Histone deacetylase 8
Homo sapiens
PTMD12705Q9H2P023394
ADNP
Activity-dependent neuroprotector homeobox protein
Homo sapiens
PTMD12728Q9H33427086
FOXP1
Forkhead box protein P1
Homo sapiens
PTMD12786Q9H4G02036
EPB41L1
Band 4.1-like protein 1
Homo sapiens
PTMD12982Q9H9B179813
EHMT1
Histone-lysine N-methyltransferase EHMT1
Homo sapiens
PTMD13916Q9P2D155636
CHD7
Chromodomain-helicase-DNA-binding protein 7
Homo sapiens
PTMD13955Q9P2P557520
HECW2
E3 ubiquitin-protein ligase HECW2
Homo sapiens
PTMD14006Q9UBM71717
DHCR7
7-dehydrocholesterol reductase -reductase)
Homo sapiens
PTMD14094Q9UGL110765
KDM5B
Lysine-specific demethylase 5B demethylase 5B)
Homo sapiens
PTMD14105Q9UGU06942
TCF20
Transcription factor 20
Homo sapiens
PTMD14316Q9UKM711253
MAN1B1
Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase
Homo sapiens
PTMD14386Q9ULH057498
KIDINS220
Kinase D-interacting substrate of 220 kDa
Homo sapiens
PTMD14454Q9UMN69757
KMT2B
Histone-lysine N-methyltransferase 2B
Homo sapiens
PTMD14668Q9Y2H922983
MAST1
Microtubule-associated serine/threonine-protein kinase 1
Homo sapiens
PTMD14853Q9Y4I14644
MYO5A
Unconventional myosin-Va
Homo sapiens
PTMD15103Q9Y6Y123261
CAMTA1
Calmodulin-binding transcription activator 1
Homo sapiens