MCID: SYN057
MIFTS: 41

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 non-syndromic intellectual disability. An important gene associated with Syndromic Intellectual Disability is KAT6A (Lysine Acetyltransferase 6A), and among its related pathways/superpathways are Neuroscience and Protein-protein interactions at synapses. Affiliated tissues include brain, heart and testes, 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 257)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant non-syndromic intellectual disability 34.5 STXBP1 POGZ MED13L KAT6A DYRK1A ATRX
2 non-syndromic intellectual disability 34.4 STXBP1 MEF2C IQSEC2 GRIA1 DLG3 ARX
3 autosomal dominant non-syndromic intellectual disability 32 34.4 KAT6A BRPF1
4 rare genetic syndromic intellectual disability 34.3 TAF6 KAT6A
5 non-syndromic x-linked intellectual disability 33.7 IQSEC2 DLG3 CNKSR2 ARX
6 syndromic x-linked intellectual disability 32.9 IQSEC2 CNKSR2 ARX
7 partington x-linked mental retardation syndrome 32.4 DLG3 ARX
8 christianson syndrome 32.3 KANSL1 CNKSR2
9 alacrima, achalasia, and mental retardation syndrome 31.8 STXBP1 MED13L IQSEC2 DYRK1A DLG3 CTNNB1
10 microcephaly 31.3 TAF6 STXBP1 POGZ KAT6A EIF2S3 DYRK1A
11 pitt-hopkins syndrome 30.9 MEF2C KANSL1 IQSEC2
12 autism 30.8 STXBP1 POGZ MEF2C MAPT IQSEC2 GRIA1
13 epilepsy 30.8 STXBP1 MEF2C MAPT KANSL1 GRIA1 ARX
14 strabismus 30.7 STXBP1 POGZ MED13L CTNNB1
15 ohdo syndrome 30.6 MED13L KAT6A BRPF1
16 opitz-kaveggia syndrome 30.6 MED13L IQSEC2 DLG3
17 west syndrome 30.5 STXBP1 IQSEC2 DLG3 ARX
18 rett syndrome 30.4 STXBP1 MEF2C GRIA1 ATRX
19 autosomal recessive non-syndromic intellectual disability 12.6
20 autosomal dominant non-syndromic intellectual disability 1 12.4
21 autosomal dominant non-syndromic intellectual disability 2 12.4
22 autosomal dominant non-syndromic intellectual disability 3 12.4
23 autosomal dominant non-syndromic intellectual disability 4 12.4
24 autosomal dominant non-syndromic intellectual disability 5 12.4
25 autosomal dominant non-syndromic intellectual disability 6 12.4
26 autosomal dominant non-syndromic intellectual disability 8 12.4
27 autosomal dominant non-syndromic intellectual disability 9 12.4
28 autosomal dominant non-syndromic intellectual disability 19 12.4
29 autosomal dominant non-syndromic intellectual disability 24 12.4
30 autosomal dominant non-syndromic intellectual disability 27 12.4
31 autosomal dominant non-syndromic intellectual disability 44 12.4
32 bain type of x-linked syndromic intellectual disability 12.4
33 syngap1-related non-syndromic intellectual disability 12.4
34 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 12.2
35 non-specific syndromic intellectual disability 12.2
36 rare syndromic intellectual disability 12.2
37 mental retardation, autosomal dominant 7 11.9
38 mental retardation, autosomal dominant 21 11.9
39 mental retardation with language impairment and with or without autistic features 11.8
40 mental retardation, autosomal dominant 22 11.7
41 mental retardation, autosomal dominant 10 11.7
42 mental retardation, autosomal dominant 11 11.7
43 mental retardation, autosomal dominant 13 11.7
44 mental retardation, autosomal dominant 18 11.7
45 helsmoortel-van der aa syndrome 11.7
46 mental retardation, autosomal dominant 29 11.7
47 mental retardation, autosomal dominant 30 11.7
48 mental retardation, autosomal dominant 33 11.7
49 mental retardation, autosomal dominant 35 11.7
50 mental retardation, autosomal dominant 36 11.7

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.24 ARX ATRX BRPF1 CNKSR2 CTNNB1 DLG3
2 growth/size/body region MP:0005378 10.03 ARX ATRX BRPF1 CTNNB1 DYRK1A GRIA1
3 mortality/aging MP:0010768 10 ARX ATRX BRPF1 CTNNB1 DLG3 DYRK1A
4 embryo MP:0005380 9.92 ATRX BRPF1 CTNNB1 DLG3 DYRK1A KAT6A
5 nervous system MP:0003631 9.77 ARX ATRX BRPF1 CTNNB1 DLG3 DYRK1A
6 normal MP:0002873 9.23 ARX BRPF1 CTNNB1 GRIA1 KAT6A MAPT

Drugs & Therapeutics for Syndromic Intellectual Disability

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic Completed NCT02136849

Search 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, Heart, Testes

Publications for Syndromic Intellectual Disability

Articles related to Syndromic Intellectual Disability:

(show top 50) (show all 170)
# Title Authors PMID Year
1
HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome. 61
32335897 2020
2
A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability. 61
32578875 2020
3
ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum. 61
32097528 2020
4
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features. 61
32409512 2020
5
A novel missense variant in GPT2 causes non-syndromic autosomal recessive intellectual disability in a consanguineous Iranian family. 61
31978613 2020
6
Non-syndromic X linked intellectual disability: Current knowledge in light of the recent advances in molecular and functional studies. 61
31898314 2020
7
De Novo ARID1B mutations cause growth delay associated with aberrant Wnt/β-catenin signaling. 61
31981384 2020
8
A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability. 61
32299451 2020
9
Exons deletion of CNKSR2 gene identified in X-linked syndromic intellectual disability. 61
32245427 2020
10
The complete loss of function of the SMS gene results in a severe form of Snyder-Robinson syndrome. 61
31580924 2020
11
Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature. 61
31953988 2020
12
A Novel de novo KIF1A Mutation in a Patient with Autism, Hyperactivity, Epilepsy, Sensory Disturbance, and Spastic Paraplegia. 61
31813911 2020
13
Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability. 61
31794431 2020
14
[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
15
Autosomal dominant inheritance in a recently described ZMIZ1-related neurodevelopmental disorder: Case report of siblings and an affected parent. 61
31833199 2020
16
Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum. 61
32041641 2020
17
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
18
MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype. 61
30735726 2020
19
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. 61
31794024 2020
20
Intellectual Disability, Falls and Gait Disturbances: A Misdiagnosis. 61
32206646 2020
21
Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer. 61
32010779 2020
22
Novel Missense Variants in ADAT3 as a Cause of Syndromic Intellectual Disability. 61
31687266 2019
23
Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish family. 61
31694657 2019
24
A genome-wide DNA methylation signature for SETD1B-related syndrome. 61
31685013 2019
25
Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants. 61
31036916 2019
26
A novel homozygous KCNQ3 loss-of-function variant causes non-syndromic intellectual disability and neonatal-onset pharmacodependent epilepsy. 61
31440727 2019
27
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females. 61
30936465 2019
28
Subtelomeric Rearrangements: Presentation of 21 Probands with Emphasis on Familial Cases. 61
31445533 2019
29
Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females. 61
31439632 2019
30
Homozygous variants in the gene SCAPER cause syndromic intellectual disability. 61
31069901 2019
31
Expanding the genetic and clinical spectrum of the NONO-associated X-linked intellectual disability syndrome. 61
30773818 2019
32
Female-restricted syndromic intellectual disability in a patient from Thailand. 61
30828969 2019
33
Syndromic Intellectual Disability Caused by a Novel Truncating Variant in AHDC1: A Case Report. 61
31182893 2019
34
De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability. 61
30734472 2019
35
Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures. 61
30655572 2019
36
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. 61
30827496 2019
37
The novel de novo mutation of KIF1A gene as the cause for Spastic paraplegia 30 in a Japanese case. 61
30582020 2019
38
LIMK2-1 is a Hominidae-Specific Isoform of LIMK2 Expressed in Central Nervous System and Associated with Intellectual Disability. 61
30594563 2019
39
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders. 61
30735662 2019
40
A novel CUL4B splice site variant in a young male exhibiting less pronounced features. 61
31645981 2019
41
CDK13-related disorder. 61
30904094 2019
42
Mutations of ARX and non-syndromic intellectual disability in Chinese population. 61
30255221 2019
43
Novel Compound Heterozygous Mutations in TTI2 Cause Syndromic Intellectual Disability in a Chinese Family. 61
31737043 2019
44
A De Novo Mutation in DYRK1A Causes Syndromic Intellectual Disability: A Chinese Case Report. 61
31803247 2019
45
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders. 61
30595372 2019
46
A cross sectional study to evaluate the oral health status of children with intellectual disabilities in the National Capital Region of India (Delhi-NCR). 61
30338591 2019
47
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism. 61
31649809 2019
48
A patient-specific induced pluripotent stem cell model for West syndrome caused by ST3GAL3 deficiency. 61
30089820 2018
49
Novel MEF2C point mutations in Chinese patients with Rett (-like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation. 61
30376817 2018
50
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability. 61
30167849 2018

Variations for Syndromic Intellectual Disability

ClinVar genetic disease variations for Syndromic Intellectual Disability:

6 (show top 50) (show all 146) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KAT6A NM_006766.5(KAT6A):c.3116_3117del (p.Ile1038_Ser1039insTer)deletion Pathogenic 162616 rs786200959 8:41795009-41795010 8:41937491-41937492
2 KAT6A NM_006766.5(KAT6A):c.3879dup (p.Glu1294fs)duplication Pathogenic 180678 rs786200952 8:41791858-41791859 8:41934340-41934341
3 TAF6 NM_139315.3(TAF6):c.212T>C (p.Ile71Thr)SNV Pathogenic/Likely pathogenic 180204 rs374993554 7:99711522-99711522 7:100113899-100113899
4 PTH2R NM_005048.4(PTH2R):c.473C>T (p.Ser158Phe)SNV Likely pathogenic 428590 rs1553546045 2:209307150-209307150 2:208442425-208442425
5 PHIP NM_017934.7(PHIP):c.3892C>T (p.Arg1298Ter)SNV Likely pathogenic 431155 rs759380520 6:79664960-79664960 6:78955243-78955243
6 FAM160B1 NM_020940.4(FAM160B1):c.115G>T (p.Glu39Ter)SNV Likely pathogenic 633777 10:116590680-116590680 10:114830921-114830921
7 KANSL1 NM_001193466.2(KANSL1):c.1857G>T (p.Arg619=)SNV Conflicting interpretations of pathogenicity 205737 rs191986791 17:44128062-44128062 17:46050696-46050696
8 KANSL1 NM_001193466.2(KANSL1):c.1124C>T (p.Ser375Leu)SNV Conflicting interpretations of pathogenicity 205782 rs142696045 17:44248386-44248386 17:46171020-46171020
9 KANSL1 NM_001193466.2(KANSL1):c.296A>G (p.Gln99Arg)SNV Conflicting interpretations of pathogenicity 205766 rs754727332 17:44249214-44249214 17:46171848-46171848
10 KANSL1 NM_001193466.2(KANSL1):c.2441C>G (p.Thr814Ser)SNV Conflicting interpretations of pathogenicity 323770 rs757031050 17:44116004-44116004 17:46038638-46038638
11 KANSL1 NM_001193466.2(KANSL1):c.2256C>T (p.Asp752=)SNV Conflicting interpretations of pathogenicity 323773 rs760224197 17:44116529-44116529 17:46039163-46039163
12 KANSL1 NM_001193466.2(KANSL1):c.1831G>A (p.Val611Ile)SNV Conflicting interpretations of pathogenicity 323778 rs202150313 17:44143920-44143920 17:46066554-46066554
13 KANSL1 NM_001193466.2(KANSL1):c.701T>C (p.Val234Ala)SNV Conflicting interpretations of pathogenicity 323788 rs199948200 17:44248809-44248809 17:46171443-46171443
14 KANSL1 NM_001193466.2(KANSL1):c.611G>T (p.Gly204Val)SNV Uncertain significance 323792 rs766643723 17:44248899-44248899 17:46171533-46171533
15 KANSL1 NM_001193466.2(KANSL1):c.2287G>T (p.Val763Leu)SNV Uncertain significance 323772 rs781594360 17:44116498-44116498 17:46039132-46039132
16 KANSL1 NM_001193466.2(KANSL1):c.1162A>G (p.Ile388Val)SNV Uncertain significance 323784 rs767398590 17:44248348-44248348 17:46170982-46170982
17 KANSL1 NM_001193466.2(KANSL1):c.*1434T>CSNV Uncertain significance 323733 rs886053059 17:44107408-44107408 17:46030042-46030042
18 KANSL1 NM_001193466.2(KANSL1):c.*608C>GSNV Uncertain significance 323755 rs886053067 17:44108234-44108234 17:46030868-46030868
19 KANSL1 NM_001193466.2(KANSL1):c.*637T>GSNV Uncertain significance 323753 rs886053066 17:44108205-44108205 17:46030839-46030839
20 KANSL1 NM_001193466.2(KANSL1):c.3091-15C>ASNV Uncertain significance 323763 rs565665710 17:44109084-44109084 17:46031718-46031718
21 KANSL1 NM_001193466.2(KANSL1):c.1940A>G (p.Glu647Gly)SNV Uncertain significance 323777 rs886053068 17:44127979-44127979 17:46050613-46050613
22 KANSL1 NM_001193466.2(KANSL1):c.*1287G>TSNV Uncertain significance 323740 rs886053064 17:44107555-44107555 17:46030189-46030189
23 KANSL1 NM_001193466.2(KANSL1):c.*1551deldeletion Uncertain significance 323730 rs767830420 17:44107291-44107291 17:46029925-46029925
24 KANSL1 NM_001193466.2(KANSL1):c.*28_*31ACTA[1]short repeat Uncertain significance 323761 rs767896466 17:44108807-44108810 17:46031441-46031444
25 KANSL1 NM_001193466.2(KANSL1):c.1676A>G (p.His559Arg)SNV Uncertain significance 323779 rs886053069 17:44144075-44144075 17:46066709-46066709
26 KANSL1 NM_001193466.2(KANSL1):c.1432-4G>ASNV Uncertain significance 323782 rs749329088 17:44159912-44159912 17:46082546-46082546
27 KANSL1 NM_001193466.2(KANSL1):c.608G>A (p.Gly203Glu)SNV Uncertain significance 323793 rs759522694 17:44248902-44248902 17:46171536-46171536
28 KANSL1 NM_001193466.2(KANSL1):c.-279G>ASNV Uncertain significance 323806 rs886053071 17:44269974-44269974 17:46192608-46192608
29 KANSL1 NM_001193466.2(KANSL1):c.*1433A>GSNV Uncertain significance 323734 rs886053060 17:44107409-44107409 17:46030043-46030043
30 KANSL1 NM_001193466.2(KANSL1):c.*1354dupduplication Uncertain significance 323735 rs67641084 17:44107487-44107488 17:46030121-46030122
31 KANSL1 NM_001193466.2(KANSL1):c.*816C>TSNV Uncertain significance 323750 rs886053065 17:44108026-44108026 17:46030660-46030660
32 KANSL1 NM_001193466.2(KANSL1):c.431G>A (p.Ser144Asn)SNV Uncertain significance 323795 rs886053070 17:44249079-44249079 17:46171713-46171713
33 KANSL1 NM_001193466.2(KANSL1):c.*1350A>CSNV Uncertain significance 323737 rs886053062 17:44107492-44107492 17:46030126-46030126
34 KANSL1 NM_001193466.2(KANSL1):c.*1306C>GSNV Uncertain significance 323739 rs886053063 17:44107536-44107536 17:46030170-46030170
35 KANSL1 NM_001193466.2(KANSL1):c.*1234_*1235dupduplication Uncertain significance 323742 rs140510364 17:44107606-44107607 17:46030240-46030241
36 KANSL1 NM_001193466.2(KANSL1):c.*1022C>GSNV Uncertain significance 323747 rs748062988 17:44107820-44107820 17:46030454-46030454
37 KANSL1 NM_001193466.2(KANSL1):c.*954C>GSNV Uncertain significance 323748 rs150500194 17:44107888-44107888 17:46030522-46030522
38 KANSL1 NM_001193466.2(KANSL1):c.*1103dupduplication Uncertain significance 323744 rs142756815 17:44107738-44107739 17:46030372-46030373
39 KANSL1 NM_001193466.2(KANSL1):c.2547G>A (p.Gln849=)SNV Uncertain significance 323768 rs763362339 17:44111646-44111646 17:46034280-46034280
40 KANSL1 NM_001193466.2(KANSL1):c.1945C>G (p.His649Asp)SNV Uncertain significance 323776 rs759914921 17:44127974-44127974 17:46050608-46050608
41 KANSL1 NM_001193466.2(KANSL1):c.1653-6G>ASNV Uncertain significance 323780 rs369261388 17:44144104-44144104 17:46066738-46066738
42 KANSL1 NM_001193466.2(KANSL1):c.1166C>T (p.Ala389Val)SNV Uncertain significance 323783 rs368394693 17:44248344-44248344 17:46170978-46170978
43 KANSL1 NM_001193466.2(KANSL1):c.*1520dupduplication Uncertain significance 323731 rs67801660 17:44107321-44107322 17:46029955-46029956
44 KANSL1 NM_015443.3(KANSL1):c.-90+19C>GSNV Uncertain significance 369214 rs1057516026 17:44270170-44270170 17:46192804-46192804
45 KANSL1 , MAPT NM_016835.4(MAPT):c.*3810G>ASNV Likely benign 323724 rs140613804 17:44105347-44105347 17:46027981-46027981
46 KANSL1 , MAPT NM_016835.4(MAPT):c.*1465C>TSNV Likely benign 323679 rs189665411 17:44103002-44103002 17:46025636-46025636
47 KANSL1 NM_001193466.2(KANSL1):c.688A>G (p.Asn230Asp)SNV Likely benign 205774 rs34756740 17:44248822-44248822 17:46171456-46171456
48 KANSL1 , MAPT NM_001193466.2(KANSL1):c.*34_*37deldeletion Likely benign 323760 rs373668834 17:44108805-44108808 17:46031439-46031442
49 KANSL1 , MAPT NM_001193466.2(KANSL1):c.*1028T>CSNV Likely benign 323745 rs375427074 17:44107814-44107814 17:46030448-46030448
50 KANSL1 , MAPT NM_001193466.2(KANSL1):c.*626T>CSNV Likely benign 323754 rs533537317 17:44108216-44108216 17:46030850-46030850

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 11.89 STXBP1 MAPT GRIA1 DYRK1A DLG3
2
Show member pathways
11.61 STXBP1 GRIA1 DLG3
3 11.15 KAT6A KANSL1 ATRX
4 11.08 MEF2C MAPT GRIA1 CTNNB1
5 10.58 GRIA1 DLG3

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 glutamatergic synapse GO:0098978 9.78 STXBP1 GRIA1 DLG3 CNKSR2
2 nucleoplasm GO:0005654 9.73 TAF6 STXBP1 SNRPA POGZ NONO MEF2C
3 nuclear speck GO:0016607 9.65 NONO MEF2C MAPT KAT6A DYRK1A
4 postsynapse GO:0098794 9.63 STXBP1 MEF2C GRIA1
5 nucleus GO:0005634 9.53 TAF6 STXBP1 SNRPA POGZ NONO MEF2C
6 postsynaptic density, intracellular component GO:0099092 9.43 DLG3 CTNNB1
7 somatodendritic compartment GO:0036477 9.4 MAPT GRIA1
8 ionotropic glutamate receptor complex GO:0008328 9.37 GRIA1 DLG3
9 histone acetyltransferase complex GO:0000123 9.33 KAT6A KANSL1 BRPF1
10 MOZ/MORF histone acetyltransferase complex GO:0070776 9.32 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 9.83 MEF2C KAT6A DYRK1A CTNNB1 BRPF1
2 regulation of signal transduction by p53 class mediator GO:1901796 9.63 TAF6 KAT6A BRPF1
3 neuron migration GO:0001764 9.58 MEF2C CTNNB1 ARX
4 forebrain development GO:0030900 9.43 CTNNB1 ATRX ARX
5 long-term synaptic depression GO:0060292 9.37 STXBP1 GRIA1
6 chromatin organization GO:0006325 9.35 TAF6 KAT6A KANSL1 BRPF1 ATRX
7 smooth muscle cell differentiation GO:0051145 9.32 MEF2C CTNNB1
8 positive regulation of skeletal muscle tissue development GO:0048643 9.16 MEF2C CTNNB1
9 regulation of NMDA receptor activity GO:2000310 8.8 MEF2C GRIA1 DLG3

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 9.62 TAF6 KAT6A DYRK1A CTNNB1
2 DNA binding GO:0003677 9.61 TAF6 POGZ NONO MEF2C MAPT KAT6A
3 protein binding GO:0005515 9.58 TAF6 STXBP1 SNRPA POGZ NONO MEF2C
4 chromatin binding GO:0003682 9.55 NONO MEF2C CTNNB1 ATRX ARX
5 AT DNA binding GO:0003680 9.26 MEF2C MAPT

Sources for Syndromic Intellectual Disability

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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