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Browse result for Intellectual developmental disorder

※ 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 developmental disorder



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD00612P518126197
RPS6KA3
Ribosomal protein S6 kinase alpha-3
Homo sapiens
PTMD00086P630005879
RAC1
Ras-related C3 botulinum toxin substrate 1
Homo sapiens
PTMD00310Q069456659
SOX4
Transcription factor SOX-4
Homo sapiens
PTMD00204Q131535058
PAK1
Serine/threonine-protein kinase PAK 1
Homo sapiens
PTMD00680Q13554816
CAMK2B
Calcium/calmodulin-dependent protein kinase type II subunit beta
Homo sapiens
PTMD00681Q13555818
CAMK2G
Calcium/calmodulin-dependent protein kinase type II subunit gamma
Homo sapiens
PTMD00779Q96RK023152
CIC
Protein capicua homolog
Homo sapiens
PTMD00059Q9UQM7815
CAMK2A
Calcium/calmodulin-dependent protein kinase type II subunit alpha
Homo sapiens
PTMD01329P357166664
SOX11
Transcription factor SOX-11
Homo sapiens
PTMD01626P433544929
NR4A2
Nuclear receptor subfamily 4 group A member 2
Homo sapiens
PTMD01650P516084204
MECP2
Methyl-CpG-binding protein 2
Homo sapiens
PTMD01116Q011056418
SET
Protein SET
Homo sapiens
PTMD01762Q155436884
TAF13
Transcription initiation factor TFIID subunit 13 18)
Homo sapiens
PTMD02282O003038665
EIF3F
Eukaryotic translation initiation factor 3 subunit F
Homo sapiens
PTMD02338O005711654
DDX3X
ATP-dependent RNA helicase DDX3X
Homo sapiens
PTMD02432O1478730000
TNPO2
Transportin-2
Homo sapiens
PTMD02462O149368573
CASK
Peripheral plasma membrane protein CASK
Homo sapiens
PTMD02551O152471193
CLIC2
Chloride intracellular channel protein 2
Homo sapiens
PTMD02999O750839948
WDR1
WD repeat-containing protein 1
Homo sapiens
PTMD03212O759145063
PAK3
Serine/threonine-protein kinase PAK 3
Homo sapiens
PTMD03227O759627204
TRIO
Triple functional domain protein
Homo sapiens
PTMD03478O9562527107
ZBTB11
Zinc finger and BTB domain-containing protein 11
Homo sapiens
PTMD03869P082476855
SYP
Synaptophysin
Homo sapiens
PTMD04330P176006853
SYN1
Synapsin-1
Homo sapiens
PTMD04393P195327030
TFE3
Transcription factor E3
Homo sapiens
PTMD04407P20020490
ATP2B1
Plasma membrane calcium-transporting ATPase 1
Homo sapiens
PTMD04565P234162742
GLRA2
Glycine receptor subunit alpha-2
Homo sapiens
PTMD04681P276356134
RPL10
Large ribosomal subunit protein uL16
Homo sapiens
PTMD04805P311502664
GDI1
Rab GDP dissociation inhibitor alpha
Homo sapiens
PTMD05062P412298242
KDM5C
Lysine-specific demethylase 5C demethylase 5C)
Homo sapiens
PTMD05085P422612890
GRIA1
Glutamate receptor 1
Homo sapiens
PTMD05087P422632892
GRIA3
Glutamate receptor 3
Homo sapiens
PTMD05295P493361024
CDK8
Cyclin-dependent kinase 8
Homo sapiens
PTMD05326P4971110664
CTCF
Transcriptional repressor CTCF
Homo sapiens
PTMD05519P527886611
SMS
Spermine synthase
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
PTMD05651P557953188
HNRNPH2
Heterogeneous nuclear ribonucleoprotein H2 [Cleaved into: Heterogeneous nuclear ribonucleoprotein H2, N-terminally processed]
Homo sapiens
PTMD05886P628732782
GNB1
Guanine nucleotide-binding protein G/G/G subunit beta-1
Homo sapiens
PTMD06080Q006101213
CLTC
Clathrin heavy chain 1
Homo sapiens
PTMD06227Q056391917
EEF1A2
Elongation factor 1-alpha 2
Homo sapiens
PTMD06362Q112036487
ST3GAL3
CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase GlcNAc alpha-2,3 sialyltransferase)
Homo sapiens
PTMD06601Q136208450
CUL4B
Cullin-4B
Homo sapiens
PTMD06707Q142029203
ZMYM3
Zinc finger MYM-type protein 3
Homo sapiens
PTMD06725Q143209130
FAM50A
Protein FAM50A
Homo sapiens
PTMD07132Q1665010716
TBR1
T-box brain protein 1
Homo sapiens
PTMD07390Q4FZB751111
KMT5B
Histone-lysine N-methyltransferase KMT5B 4-20 homolog 1)
Homo sapiens
PTMD07619Q5JU8523096
IQSEC2
IQ motif and SEC7 domain-containing protein 2
Homo sapiens
PTMD08059Q6DN909922
IQSEC1
IQ motif and SEC7 domain-containing protein 1
Homo sapiens
PTMD08090Q6IA8655250
ELP2
Elongator complex protein 2
Homo sapiens
PTMD08364Q6RI4525406
BRWD3
Bromodomain and WD repeat-containing protein 3
Homo sapiens
PTMD08665Q765P792154
MTSS2
Protein MTSS 2
Homo sapiens
PTMD08904Q7Z6Z710075
HUWE1
E3 ubiquitin-protein ligase HUWE1
Homo sapiens
PTMD08998Q86UE811011
TLK2
Serine/threonine-protein kinase tousled-like 2
Homo sapiens
PTMD09147Q86XK280204
FBXO11
F-box only protein 11
Homo sapiens
PTMD09722Q8N5F779576
NKAP
NF-kappa-B-activating protein
Homo sapiens
PTMD09771Q8N6M051633
OTUD6B
Deubiquitinase OTUD6B
Homo sapiens
PTMD10214Q8NI2757187
THOC2
THO complex subunit 2
Homo sapiens
PTMD11097Q96CW11173
AP2M1
AP-2 complex subunit mu
Homo sapiens
PTMD11223Q96FE584894
LINGO1
Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1
Homo sapiens
PTMD11659Q96PZ054517
PUS7
Pseudouridylate synthase 7 homolog
Homo sapiens
PTMD11691Q96QS317030
ARX
Homeobox protein ARX
Homo sapiens
PTMD12289Q9BXJ980155
NAA15
N-alpha-acetyltransferase 15, NatA auxiliary subunit
Homo sapiens
PTMD12415Q9BZI765109
UPF3B
Regulator of nonsense transcripts 3B
Homo sapiens
PTMD12419Q9BZK779718
TBL1XR1
F-box-like/WD repeat-containing protein TBL1XR1
Homo sapiens
PTMD12460Q9C0A655209
SETD5
Histone-lysine N-methyltransferase SETD5
Homo sapiens
PTMD12728Q9H33427086
FOXP1
Forkhead box protein P1
Homo sapiens
PTMD13058Q9HB7555367
PIDD1
p53-induced death domain-containing protein 1 [Cleaved into: PIDD-N; PIDD-C; PIDD-CC]
Homo sapiens
PTMD13343Q9NR4855870
ASH1L
Histone-lysine N-methyltransferase ASH1L
Homo sapiens
PTMD13353Q9NR8256479
KCNQ5
Potassium voltage-gated channel subfamily KQT member 5
Homo sapiens
PTMD13900Q9P26755777
MBD5
Methyl-CpG-binding domain protein 5
Homo sapiens
PTMD14062Q9UET624140
FTSJ1
tRNA /guanosine-2'-O)-methyltransferase
Homo sapiens
PTMD14161Q9UHV79969
MED13
Mediator of RNA polymerase II transcription subunit 13
Homo sapiens
PTMD14546Q9UPS6
SETD1B
Histone-lysine N-methyltransferase SETD1B
Homo sapiens
PTMD14961Q9Y5P410087
CERT1
Ceramide transfer protein
Homo sapiens