MCID: SYN057
MIFTS: 37

Syndromic Intellectual Disability

Categories: Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Syndromic Intellectual Disability

MalaCards integrated aliases for Syndromic Intellectual Disability:

Name: Syndromic Intellectual Disability 12 29 6 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0050888

Summaries for Syndromic Intellectual Disability

Disease Ontology : 12 An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms.

MalaCards based summary : Syndromic Intellectual Disability is related to autosomal dominant non-syndromic intellectual disability and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Syndromic Intellectual Disability is KAT6A (Lysine Acetyltransferase 6A), and among its related pathways/superpathways are Neuroscience and Brain-Derived Neurotrophic Factor (BDNF) signaling pathway. Affiliated tissues include brain, and related phenotypes are behavior/neurological and growth/size/body region

Related Diseases for Syndromic Intellectual Disability

Diseases in the Syndromic Intellectual Disability family:

Rare Syndromic Intellectual Disability

Diseases related to Syndromic Intellectual Disability via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 234)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant non-syndromic intellectual disability 33.0 POGZ PHIP KAT6A DYRK1A
2 alacrima, achalasia, and mental retardation syndrome 31.5 TAF6 SYT1 POGZ KAT6A KANSL1 FHIP2A
3 microcephaly 31.2 TELO2 TAF6 POGZ KAT6A FHIP2A EIF2S3
4 autism 31.0 POGZ MAPT KAT6A GRIA1 DYRK1A CTNNB1
5 ohdo syndrome 30.4 KAT6A BRPF1
6 disease of mental health 30.2 SYT1 POGZ MAPT KAT6A KANSL1 GRIA1
7 autosomal recessive non-syndromic intellectual disability 11.6
8 non-syndromic intellectual disability 11.5
9 mental retardation, autosomal dominant 7 11.5
10 non-syndromic x-linked intellectual disability 11.5
11 mental retardation, autosomal dominant 21 11.5
12 mental retardation, autosomal dominant 22 11.5
13 mental retardation, autosomal dominant 10 11.5
14 mental retardation, autosomal dominant 11 11.5
15 mental retardation, autosomal dominant 13 11.5
16 mental retardation, autosomal dominant 23 11.5
17 helsmoortel-van der aa syndrome 11.5
18 mental retardation, autosomal dominant 29 11.5
19 mental retardation, autosomal dominant 30 11.5
20 mental retardation, autosomal dominant 33 11.5
21 mental retardation, autosomal dominant 35 11.5
22 mental retardation, autosomal dominant 36 11.5
23 mental retardation, autosomal dominant 38 11.5
24 mental retardation, autosomal dominant 40 11.5
25 mental retardation, autosomal dominant 41 11.5
26 mental retardation, autosomal dominant 42 11.5
27 mental retardation, autosomal dominant 43 11.5
28 intellectual developmental disorder, autosomal dominant 44, with microcephaly 11.5
29 autosomal dominant non-syndromic intellectual disability 1 11.5
30 autosomal dominant non-syndromic intellectual disability 2 11.5
31 autosomal dominant non-syndromic intellectual disability 3 11.5
32 autosomal dominant non-syndromic intellectual disability 4 11.5
33 autosomal dominant non-syndromic intellectual disability 5 11.5
34 autosomal dominant non-syndromic intellectual disability 6 11.5
35 autosomal dominant non-syndromic intellectual disability 8 11.5
36 autosomal dominant non-syndromic intellectual disability 18 11.5
37 autosomal dominant non-syndromic intellectual disability 19 11.5
38 syngap1-related non-syndromic intellectual disability 11.5
39 bain type of x-linked syndromic intellectual disability 11.4
40 mental retardation, x-linked, syndromic, cabezas type 11.4
41 nescav syndrome 11.4
42 vulto-van silfhout-de vries syndrome 11.4
43 mental retardation, autosomal dominant 26 11.4
44 mental retardation, autosomal dominant 31 11.4
45 arboleda-tham syndrome 11.4
46 mental retardation, autosomal dominant 34 11.4
47 mental retardation, autosomal dominant 39 11.4
48 syndromic x-linked intellectual disability 11.4
49 rare intellectual disability without developmental anomaly 11.3
50 rare syndromic intellectual disability 11.3

Graphical network of the top 20 diseases related to Syndromic Intellectual Disability:



Diseases related to Syndromic Intellectual Disability

Symptoms & Phenotypes for Syndromic Intellectual Disability

MGI Mouse Phenotypes related to Syndromic Intellectual Disability:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.25 ARX BRPF1 CNKSR2 CTNNB1 DYRK1A GRIA1
2 growth/size/body region MP:0005378 10.21 ARX BRPF1 CTNNB1 DYRK1A FHIP2A GRIA1
3 homeostasis/metabolism MP:0005376 10.13 ARX BRPF1 CTNNB1 FHIP2A GRIA1 KANSL1
4 mortality/aging MP:0010768 9.97 ARX BRPF1 CTNNB1 DYRK1A KANSL1 KAT6A
5 liver/biliary system MP:0005370 9.8 CTNNB1 DYRK1A KAT6A NONO PHIP POGZ
6 nervous system MP:0003631 9.7 ARX BRPF1 CTNNB1 DYRK1A FHIP2A GRIA1
7 normal MP:0002873 9.23 ARX BRPF1 CTNNB1 GRIA1 KAT6A MAPT

Drugs & Therapeutics for Syndromic Intellectual Disability

Search Clinical Trials , NIH Clinical Center for Syndromic Intellectual Disability

Genetic Tests for Syndromic Intellectual Disability

Genetic tests related to Syndromic Intellectual Disability:

# Genetic test Affiliating Genes
1 Syndromic Intellectual Disability 29

Anatomical Context for Syndromic Intellectual Disability

MalaCards organs/tissues related to Syndromic Intellectual Disability:

40
Brain

Publications for Syndromic Intellectual Disability

Articles related to Syndromic Intellectual Disability:

(show top 50) (show all 198)
# Title Authors PMID Year
1
SYT1-associated neurodevelopmental disorder: a case series. 6
30107533 2018
2
Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families. 6
28397838 2018
3
De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features. 6
27900362 2016
4
Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. 6
25728777 2015
5
Novel FOXP1 pathogenic variants in two Indian subjects with syndromic intellectual disability. 61
33427368 2021
6
Clinical and molecular spectra of BRAF-associated RASopathy. 61
33040082 2021
7
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome. 61
33743206 2021
8
50 Years Ago in TheJournalofPediatrics: Syndromic Intellectual Disability: A Never-Ending Genomic Odyssey. 61
33766290 2021
9
Generation of an iPSC line (UNINAi001-A) from a girl with neonatal-onset epilepsy and non-syndromic intellectual disability carrying the homozygous KCNQ3 p.PHE534ILEfs*15 variant and of an iPSC line (UNINAi002-A) from a non-carrier, unaffected brother. 61
33799276 2021
10
Non-Syndromic Intellectual Disability and Its Pathways: A Long Noncoding RNA Perspective. 61
33799572 2021
11
Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability. 61
33739554 2021
12
De Novo 1q21.3q22 Duplication Revaluation in a "Cold" Complex Neuropsychiatric Case with Syndromic Intellectual Disability. 61
33807234 2021
13
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder. 61
33811806 2021
14
Clinical and Genetic Characteristics of Splicing Variant in CYP27A1 in an Iranian Family with Cerebrotendinous Xanthomatosis. 61
33400472 2021
15
Novel USP9X variant associated with syndromic intellectual disability in a female: A case study and review. 61
33638286 2021
16
ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy. 61
33603162 2021
17
Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing. 61
33157260 2021
18
Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay. 61
33420346 2021
19
Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration. 61
33397746 2021
20
Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease. 61
33500540 2021
21
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features. 61
32409512 2020
22
DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature. 61
33159716 2020
23
Novel Mutation in LARP7 in Two Iranian Consanguineous Families with Syndromic Intellectual Disability and Facial Dysmorphism. 61
33356342 2020
24
PPP1R21-related syndromic intellectual disability: Report of an adult patient and review. 61
32985083 2020
25
A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability. 61
32578875 2020
26
HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome. 61
32335897 2020
27
Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case report. 61
32698785 2020
28
[Syndromic intellectual disability disorder caused by variants in TELO2 or You-Hoover-Fong syndrome]. 61
32709525 2020
29
ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum. 61
32097528 2020
30
Non-syndromic X linked intellectual disability: Current knowledge in light of the recent advances in molecular and functional studies. 61
31898314 2020
31
A novel missense variant in GPT2 causes non-syndromic autosomal recessive intellectual disability in a consanguineous Iranian family. 61
31978613 2020
32
De Novo ARID1B mutations cause growth delay associated with aberrant Wnt/β-catenin signaling. 61
31981384 2020
33
Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature. 61
31953988 2020
34
Exons deletion of CNKSR2 gene identified in X-linked syndromic intellectual disability. 61
32245427 2020
35
The complete loss of function of the SMS gene results in a severe form of Snyder-Robinson syndrome. 61
31580924 2020
36
A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability. 61
32299451 2020
37
Autosomal dominant inheritance in a recently described ZMIZ1-related neurodevelopmental disorder: Case report of siblings and an affected parent. 61
31833199 2020
38
Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability. 61
31794431 2020
39
[First Spanish case of syndromic intellectual disability with dysmorphic facies, seizures, and distal limb anomalies caused by balletic mutations in the OTUD6B gene]. 61
31147255 2020
40
A Novel de novo KIF1A Mutation in a Patient with Autism, Hyperactivity, Epilepsy, Sensory Disturbance, and Spastic Paraplegia. 61
31813911 2020
41
Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum. 61
32041641 2020
42
MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype. 61
30735726 2020
43
Two Novel Compound Heterozygous Mutations in the TRAPPC9 Gene Reveal a Connection of Non-syndromic Intellectual Disability and Autism Spectrum Disorder. 61
33719327 2020
44
Comparative Genomic Mapping Implicates LRRK2 for Intellectual Disability and Autism at 12q12, and HDHD1, as Well as PNPLA4, for X-Linked Intellectual Disability at Xp22.31. 61
31963867 2020
45
Intellectual Disability, Falls and Gait Disturbances: A Misdiagnosis. 61
32206646 2020
46
Region and Cell Type Distribution of TCF4 in the Postnatal Mouse Brain. 61
32765228 2020
47
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. 61
31794024 2020
48
Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer. 61
32010779 2020
49
A de novo DDX3X Variant Is Associated With Syndromic Intellectual Disability: Case Report and Literature Review. 61
32714884 2020
50
Novel Missense Variants in ADAT3 as a Cause of Syndromic Intellectual Disability. 61
31687266 2019

Variations for Syndromic Intellectual Disability

ClinVar genetic disease variations for Syndromic Intellectual Disability:

6 (show top 50) (show all 64)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TAF6 NM_139315.3(TAF6):c.212T>C (p.Ile71Thr) SNV Pathogenic 180204 rs374993554 GRCh37: 7:99711522-99711522
GRCh38: 7:100113899-100113899
2 KAT6A NM_006766.5(KAT6A):c.3879dup (p.Glu1294fs) Duplication Pathogenic 180678 rs786200952 GRCh37: 8:41791858-41791859
GRCh38: 8:41934340-41934341
3 KAT6A NM_006766.5(KAT6A):c.3116_3117del (p.Ile1038_Ser1039insTer) Deletion Pathogenic 162616 rs786200959 GRCh37: 8:41795009-41795010
GRCh38: 8:41937491-41937492
4 SYT1 NM_005639.3(SYT1):c.1098C>G (p.Asp366Glu) SNV Pathogenic 977145 GRCh37: 12:79842733-79842733
GRCh38: 12:79448953-79448953
5 CCDC82 NM_024725.4(CCDC82):c.535C>T (p.Arg179Ter) SNV Pathogenic 1048083 GRCh37: 11:96117377-96117377
GRCh38: 11:96384213-96384213
6 IRAK1BP1 , PHIP NM_017934.7(PHIP):c.3892C>T (p.Arg1298Ter) SNV Likely pathogenic 431155 rs759380520 GRCh37: 6:79664960-79664960
GRCh38: 6:78955243-78955243
7 PTH2R NM_005048.4(PTH2R):c.473C>T (p.Ser158Phe) SNV Likely pathogenic 428590 rs1553546045 GRCh37: 2:209307150-209307150
GRCh38: 2:208442425-208442425
8 FHIP2A NM_020940.4(FHIP2A):c.115G>T (p.Glu39Ter) SNV Likely pathogenic 633777 rs1592013653 GRCh37: 10:116590680-116590680
GRCh38: 10:114830921-114830921
9 ADARB1 NM_001112.4(ADARB1):c.1101G>C (p.Lys367Asn) SNV Uncertain significance 870449 GRCh37: 21:46602522-46602522
GRCh38: 21:45182607-45182607
10 ADARB1 NM_001112.4(ADARB1):c.1397-354A>G SNV Uncertain significance 977164 GRCh37: 21:46604484-46604484
GRCh38: 21:45184569-45184569
11 KANSL1 NM_001193466.2(KANSL1):c.*1551del Deletion Uncertain significance 323730 rs767830420 GRCh37: 17:44107291-44107291
GRCh38: 17:46029925-46029925
12 KANSL1 NM_015443.3(KANSL1):c.-90+19C>G SNV Uncertain significance 369214 rs1057516026 GRCh37: 17:44270170-44270170
GRCh38: 17:46192804-46192804
13 KANSL1 NM_001193466.2(KANSL1):c.*1103dup Duplication Uncertain significance 323744 rs142756815 GRCh37: 17:44107738-44107739
GRCh38: 17:46030372-46030373
14 KANSL1 NM_001193466.2(KANSL1):c.*1234_*1235dup Duplication Uncertain significance 323742 rs140510364 GRCh37: 17:44107606-44107607
GRCh38: 17:46030240-46030241
15 KANSL1 NM_001193466.2(KANSL1):c.*1520dup Duplication Uncertain significance 323731 rs67801660 GRCh37: 17:44107321-44107322
GRCh38: 17:46029955-46029956
16 KANSL1 NM_001193466.2(KANSL1):c.*954C>G SNV Uncertain significance 323748 rs150500194 GRCh37: 17:44107888-44107888
GRCh38: 17:46030522-46030522
17 KANSL1 NM_001193466.2(KANSL1):c.*28_*31ACTA[1] Microsatellite Uncertain significance 323761 rs767896466 GRCh37: 17:44108807-44108810
GRCh38: 17:46031441-46031444
18 KANSL1 NM_001193466.2(KANSL1):c.*1354dup Duplication Uncertain significance 323735 rs67641084 GRCh37: 17:44107487-44107488
GRCh38: 17:46030121-46030122
19 KANSL1 , MAPT NM_005910.5(MAPT):c.*1039C>T SNV Likely benign 323666 rs568260584 GRCh37: 17:44102576-44102576
GRCh38: 17:46025210-46025210
20 KANSL1 , MAPT NM_005910.5(MAPT):c.*4154T>C SNV Likely benign 323729 rs377535401 GRCh37: 17:44105691-44105691
GRCh38: 17:46028325-46028325
21 MAPT , KANSL1 NM_001193466.2(KANSL1):c.*626T>C SNV Likely benign 323754 rs533537317 GRCh37: 17:44108216-44108216
GRCh38: 17:46030850-46030850
22 KANSL1 , MAPT NM_005910.5(MAPT):c.*2956T>C SNV Likely benign 323709 rs181844055 GRCh37: 17:44104493-44104493
GRCh38: 17:46027127-46027127
23 KANSL1 , MAPT NM_005910.5(MAPT):c.*1670C>T SNV Likely benign 323681 rs535931288 GRCh37: 17:44103207-44103207
GRCh38: 17:46025841-46025841
24 MAPT , KANSL1 NM_001193466.2(KANSL1):c.*1196T>G SNV Likely benign 323743 rs137970866 GRCh37: 17:44107646-44107646
GRCh38: 17:46030280-46030280
25 KANSL1 , MAPT NM_005910.5(MAPT):c.*3377G>C SNV Likely benign 323719 rs540687358 GRCh37: 17:44104914-44104914
GRCh38: 17:46027548-46027548
26 MAPT , KANSL1 NM_001193466.2(KANSL1):c.*1027C>G SNV Likely benign 323746 rs11870461 GRCh37: 17:44107815-44107815
GRCh38: 17:46030449-46030449
27 KANSL1 , MAPT NM_005910.5(MAPT):c.*3810G>A SNV Likely benign 323724 rs140613804 GRCh37: 17:44105347-44105347
GRCh38: 17:46027981-46027981
28 MAPT , KANSL1 NM_001193466.2(KANSL1):c.*388G>T SNV Likely benign 323757 rs367998611 GRCh37: 17:44108454-44108454
GRCh38: 17:46031088-46031088
29 MAPT , KANSL1 NM_001193466.2(KANSL1):c.*34_*37del Deletion Likely benign 323760 rs373668834 GRCh37: 17:44108805-44108808
GRCh38: 17:46031439-46031442
30 MAPT , KANSL1 NM_001193466.2(KANSL1):c.*1028T>C SNV Likely benign 323745 rs375427074 GRCh37: 17:44107814-44107814
GRCh38: 17:46030448-46030448
31 KANSL1 , MAPT NM_005910.5(MAPT):c.*2167G>A SNV Likely benign 323691 rs16940802 GRCh37: 17:44103704-44103704
GRCh38: 17:46026338-46026338
32 KANSL1 , MAPT NM_005910.5(MAPT):c.*3133A>G SNV Likely benign 323716 rs191084195 GRCh37: 17:44104670-44104670
GRCh38: 17:46027304-46027304
33 KANSL1 , MAPT NM_005910.5(MAPT):c.*3570T>C SNV Likely benign 323722 rs567899904 GRCh37: 17:44105107-44105107
GRCh38: 17:46027741-46027741
34 MAPT , KANSL1 NM_001193466.2(KANSL1):c.*217C>T SNV Likely benign 323759 rs140200874 GRCh37: 17:44108625-44108625
GRCh38: 17:46031259-46031259
35 KANSL1 , MAPT NM_005910.5(MAPT):c.*2991C>T SNV Likely benign 323712 rs141337757 GRCh37: 17:44104528-44104528
GRCh38: 17:46027162-46027162
36 KANSL1 , MAPT NM_005910.5(MAPT):c.*1465C>T SNV Likely benign 323679 rs189665411 GRCh37: 17:44103002-44103002
GRCh38: 17:46025636-46025636
37 KANSL1 , MAPT NM_005910.5(MAPT):c.*3435T>C SNV Likely benign 323721 rs186977284 GRCh37: 17:44104972-44104972
GRCh38: 17:46027606-46027606
38 KANSL1 NM_001193466.2(KANSL1):c.-442_-440CTC[1] Microsatellite Likely benign 323809 rs534448299 GRCh37: 17:44270132-44270134
GRCh38: 17:46192766-46192768
39 KANSL1 , MAPT NM_005910.5(MAPT):c.*1721C>T SNV Likely benign 323682 rs186042163 GRCh37: 17:44103258-44103258
GRCh38: 17:46025892-46025892
40 KANSL1 , MAPT NM_005910.5(MAPT):c.*2810G>A SNV Likely benign 323705 rs2158256 GRCh37: 17:44104347-44104347
GRCh38: 17:46026981-46026981
41 KANSL1 , MAPT NM_005910.5(MAPT):c.*1047C>T SNV Likely benign 323667 rs113815715 GRCh37: 17:44102584-44102584
GRCh38: 17:46025218-46025218
42 KANSL1 , MAPT NM_005910.5(MAPT):c.*1404T>C SNV Likely benign 323677 rs530779128 GRCh37: 17:44102941-44102941
GRCh38: 17:46025575-46025575
43 MAPT , KANSL1 NM_001193466.2(KANSL1):c.*1354del Deletion Benign 323736 rs67641084 GRCh37: 17:44107488-44107488
GRCh38: 17:46030122-46030122
44 KANSL1 , MAPT NM_001123066.3(MAPT):c.*1145_*1146insT Insertion Benign 323672 rs1491446284 GRCh37: 17:44102682-44102683
GRCh38: 17:46025316-46025317
45 MAPT , KANSL1 NM_001193466.2(KANSL1):c.*1328del Deletion Benign 323738 rs71665335 GRCh37: 17:44107514-44107514
GRCh38: 17:46030148-46030148
46 KANSL1 , MAPT NM_005910.5(MAPT):c.*2079C>T SNV Benign 323690 rs17652748 GRCh37: 17:44103616-44103616
GRCh38: 17:46026250-46026250
47 KANSL1 , MAPT NM_005910.5(MAPT):c.*3848A>G SNV Benign 323726 rs114213384 GRCh37: 17:44105385-44105385
GRCh38: 17:46028019-46028019
48 MAPT , KANSL1 NM_001193466.2(KANSL1):c.3029C>T (p.Pro1010Leu) SNV Benign 323764 rs7220988 GRCh37: 17:44109474-44109474
GRCh38: 17:46032108-46032108
49 MAPT , KANSL1 NM_001193466.2(KANSL1):c.2751C>T (p.Phe917=) SNV Benign 323765 rs36076725 GRCh37: 17:44110532-44110532
GRCh38: 17:46033166-46033166
50 KANSL1 , MAPT NM_005910.5(MAPT):c.*1759T>C SNV Benign 323684 rs7687 GRCh37: 17:44103296-44103296
GRCh38: 17:46025930-46025930

Expression for Syndromic Intellectual Disability

Search GEO for disease gene expression data for Syndromic Intellectual Disability.

Pathways for Syndromic Intellectual Disability

Pathways related to Syndromic Intellectual Disability according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.46 SYT1 MAPT GRIA1 DYRK1A
2 11.29 MAPT GRIA1 CTNNB1

GO Terms for Syndromic Intellectual Disability

Cellular components related to Syndromic Intellectual Disability according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.5 TELO2 TAF6 POGZ PHIP NONO MAPT
2 histone acetyltransferase complex GO:0000123 9.32 KANSL1 BRPF1
3 somatodendritic compartment GO:0036477 9.26 MAPT GRIA1
4 nuclear periphery GO:0034399 9.16 TELO2 MAPT
5 MOZ/MORF histone acetyltransferase complex GO:0070776 8.96 KAT6A BRPF1

Biological processes related to Syndromic Intellectual Disability according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.55 PHIP KAT6A DYRK1A CTNNB1 BRPF1
2 animal organ development GO:0048513 8.96 KAT6A CTNNB1
3 regulation of signal transduction by p53 class mediator GO:1901796 8.8 TAF6 KAT6A BRPF1

Molecular functions related to Syndromic Intellectual Disability according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription coactivator activity GO:0003713 8.92 TAF6 KAT6A DYRK1A CTNNB1

Sources for Syndromic Intellectual Disability

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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