MCID: ATS522
MIFTS: 31

Autosomal Dominant Intellectual Developmental Disorder

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Aliases & Classifications for Autosomal Dominant Intellectual Developmental Disorder

MalaCards integrated aliases for Autosomal Dominant Intellectual Developmental Disorder:

Name: Autosomal Dominant Intellectual Developmental Disorder 11
Autosomal Dominant Non-Syndromic Intellectual Disability 14
Autosomal Dominant Non-Syndromic Mental Retardation 11
Mental Retardation, Autosomal Dominant 38
Autosomal Dominant Mental Retardation 11

Classifications:



External Ids:

Disease Ontology 11 DOID:0060307

Summaries for Autosomal Dominant Intellectual Developmental Disorder

Disease Ontology: 11 A intellectual disability characterized by an autosomal dominant inheritance pattern.

MalaCards based summary: Autosomal Dominant Intellectual Developmental Disorder, also known as autosomal dominant non-syndromic intellectual disability, is related to coffin-siris syndrome 4 and white-sutton syndrome. An important gene associated with Autosomal Dominant Intellectual Developmental Disorder is MRD4 (Mental Retardation, Autosomal Dominant 4), and among its related pathways/superpathways are RNA Polymerase I Promoter Opening and Assembly of the pre-replicative complex. Related phenotypes are Increased Nanog expression and mortality/aging

Related Diseases for Autosomal Dominant Intellectual Developmental Disorder

Diseases in the Autosomal Dominant Intellectual Developmental Disorder family:

Intellectual Developmental Disorder, Autosomal Dominant 1 Intellectual Developmental Disorder, Autosomal Recessive 1
Intellectual Developmental Disorder, Autosomal Recessive 2 Intellectual Developmental Disorder, Autosomal Recessive 3
Intellectual Developmental Disorder, Autosomal Recessive 12 Intellectual Developmental Disorder, Autosomal Recessive 5
Intellectual Developmental Disorder, Autosomal Recessive 6 Intellectual Developmental Disorder, Autosomal Recessive 7
Intellectual Developmental Disorder, Autosomal Recessive 9 Intellectual Developmental Disorder, Autosomal Recessive 10
Intellectual Developmental Disorder, Autosomal Recessive 11 Intellectual Developmental Disorder, Autosomal Recessive 4
Intellectual Developmental Disorder, Autosomal Dominant 22 Intellectual Developmental Disorder, Autosomal Dominant 3
Intellectual Developmental Disorder, Autosomal Dominant 4 Intellectual Developmental Disorder, Autosomal Dominant 5
Intellectual Developmental Disorder, Autosomal Recessive 13 Intellectual Developmental Disorder, Autosomal Recessive 14
Intellectual Developmental Disorder, Autosomal Dominant 7 Intellectual Developmental Disorder, Autosomal Dominant 2
Intellectual Developmental Disorder, Autosomal Recessive 16 Intellectual Developmental Disorder, Autosomal Dominant 10
Intellectual Developmental Disorder, Autosomal Recessive 31 Intellectual Developmental Disorder, Autosomal Recessive 29
Intellectual Developmental Disorder, Autosomal Recessive 27 Intellectual Developmental Disorder, Autosomal Recessive 33
Intellectual Developmental Disorder, Autosomal Recessive 30 Intellectual Developmental Disorder, Autosomal Recessive 19
Intellectual Developmental Disorder, Autosomal Recessive 23 Intellectual Developmental Disorder, Autosomal Recessive 24
Intellectual Developmental Disorder, Autosomal Recessive 25 Intellectual Developmental Disorder, Autosomal Recessive 28
Intellectual Developmental Disorder, Autosomal Dominant 13 Intellectual Developmental Disorder, Autosomal Recessive 35
Intellectual Developmental Disorder, Autosomal Recessive 37 Intellectual Developmental Disorder, Autosomal Dominant 21
Intellectual Developmental Disorder, Autosomal Recessive 38 Intellectual Developmental Disorder, Autosomal Recessive 39
Intellectual Developmental Disorder, Autosomal Recessive 41 Intellectual Developmental Disorder, Autosomal Dominant 23
Intellectual Developmental Disorder, Autosomal Recessive 43 Intellectual Developmental Disorder, Autosomal Dominant 26
Intellectual Developmental Disorder, Autosomal Recessive 44 Intellectual Developmental Disorder, Autosomal Recessive 45
Intellectual Developmental Disorder, Autosomal Dominant 29 Intellectual Developmental Disorder, Autosomal Recessive 46
Intellectual Developmental Disorder, Autosomal Recessive 47 Intellectual Developmental Disorder, Autosomal Recessive 48
Intellectual Developmental Disorder, Autosomal Dominant 33 Intellectual Developmental Disorder, Autosomal Dominant 34
Intellectual Developmental Disorder, Autosomal Dominant 35 Intellectual Developmental Disorder, Autosomal Dominant 36
Intellectual Developmental Disorder, Autosomal Dominant 38 Intellectual Developmental Disorder, Autosomal Recessive 50
Intellectual Developmental Disorder, Autosomal Dominant 39 Intellectual Developmental Disorder, Autosomal Recessive 51
Intellectual Developmental Disorder, Autosomal Recessive 52 Intellectual Developmental Disorder, Autosomal Dominant 41
Intellectual Developmental Disorder, Autosomal Dominant 42 Intellectual Developmental Disorder, Autosomal Dominant 43
Intellectual Developmental Disorder, Autosomal Recessive 54 Intellectual Developmental Disorder, Autosomal Recessive 56
Intellectual Developmental Disorder, Autosomal Recessive 74 Intellectual Developmental Disorder, Autosomal Recessive 57
Intellectual Developmental Disorder, Autosomal Recessive 58 Intellectual Developmental Disorder, Autosomal Recessive 59
Intellectual Developmental Disorder, Autosomal Recessive 60 Intellectual Developmental Disorder, Autosomal Dominant 45
Intellectual Developmental Disorder, Autosomal Dominant 46 Intellectual Developmental Disorder, Autosomal Dominant 47
Intellectual Developmental Disorder, Autosomal Dominant 48 Intellectual Developmental Disorder, Autosomal Recessive 61
Intellectual Developmental Disorder, Autosomal Dominant 51 Intellectual Developmental Disorder, Autosomal Dominant 52
Intellectual Developmental Disorder, Autosomal Dominant 53 Intellectual Developmental Disorder, Autosomal Dominant 54
Intellectual Developmental Disorder, Autosomal Dominant 56 Intellectual Developmental Disorder, Autosomal Dominant 69
Intellectual Developmental Disorder, Autosomal Dominant 61 Intellectual Developmental Disorder, Autosomal Dominant 57
Intellectual Developmental Disorder, Autosomal Recessive 63 Intellectual Developmental Disorder, Autosomal Recessive 64
Intellectual Developmental Disorder, Autosomal Dominant 58 Intellectual Developmental Disorder, Autosomal Recessive 65
Intellectual Developmental Disorder, Autosomal Recessive 66 Intellectual Developmental Disorder, Autosomal Recessive 67
Intellectual Developmental Disorder, Autosomal Recessive 68 Intellectual Developmental Disorder, Autosomal Recessive 69
Intellectual Developmental Disorder, Autosomal Recessive 70 Intellectual Developmental Disorder, Autosomal Recessive 71
Intellectual Developmental Disorder, Autosomal Dominant 59 Intellectual Developmental Disorder, Autosomal Recessive 72
Intellectual Developmental Disorder, Autosomal Dominant 62 Intellectual Developmental Disorder, Autosomal Dominant 64
Intellectual Developmental Disorder, Autosomal Dominant 65 Intellectual Developmental Disorder, Autosomal Recessive 73
Intellectual Developmental Disorder, Autosomal Dominant 66 Intellectual Developmental Disorder, Autosomal Dominant 67
Intellectual Developmental Disorder, Autosomal Recessive 76 Intellectual Developmental Disorder, Autosomal Dominant 68
Intellectual Developmental Disorder, Autosomal Recessive 77 Autosomal Recessive Intellectual Developmental Disorder
Autosomal Dominant Intellectual Developmental Disorder 6 Autosomal Dominant Intellectual Developmental Disorder 8
Autosomal Dominant Intellectual Developmental Disorder 19 Autosomal Dominant Intellectual Developmental Disorder 31
Autosomal Dominant Intellectual Developmental Disorder 40 Autosomal Recessive Intellectual Developmental Disorder 34
Autosomal Recessive Intellectual Developmental Disorder 75

Diseases related to Autosomal Dominant Intellectual Developmental Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 173)
# Related Disease Score Top Affiliating Genes
1 coffin-siris syndrome 4 32.3 SMARCA4 ARID2
2 white-sutton syndrome 32.1 POGZ AHDC1 ADNP
3 helsmoortel-van der aa syndrome 31.9 SMARCA4 POGZ BANF1 ARID1B ADNP
4 coffin-siris syndrome 1 30.6 SOX11 SMARCE1 SMARCC2 SMARCB1 SMARCA4 SMARCA2
5 clark-baraitser syndrome 30.6 SOX11 SMARCE1 SMARCC2 SMARCB1 SMARCA4 SMARCA2
6 autosomal dominant non-syndromic intellectual disability 11.7
7 intellectual developmental disorder, autosomal dominant 44, with microcephaly 11.7
8 intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities 11.7
9 intellectual developmental disorder, autosomal dominant 55, with seizures 11.6
10 intellectual developmental disorder, autosomal dominant 56 11.6
11 intellectual developmental disorder, autosomal dominant 13 11.6
12 intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities 11.6
13 intellectual developmental disorder, autosomal dominant 42 11.6
14 intellectual developmental disorder, autosomal dominant 1 11.5
15 intellectual developmental disorder, autosomal dominant 22 11.5
16 intellectual developmental disorder, autosomal dominant 3 11.5
17 intellectual developmental disorder, autosomal dominant 4 11.5
18 intellectual developmental disorder, autosomal dominant 5 11.5
19 intellectual developmental disorder, autosomal dominant 7 11.5
20 intellectual developmental disorder, autosomal dominant 2 11.5
21 intellectual developmental disorder, autosomal dominant 10 11.5
22 chromosome 20q11-q12 deletion syndrome 11.5
23 gand syndrome 11.5
24 intellectual developmental disorder, autosomal dominant 21 11.5
25 intellectual developmental disorder, autosomal dominant 23 11.5
26 intellectual developmental disorder, autosomal dominant 26 11.5
27 intellectual developmental disorder, autosomal dominant 29 11.5
28 intellectual developmental disorder, autosomal dominant 33 11.5
29 intellectual developmental disorder, autosomal dominant 34 11.5
30 intellectual developmental disorder, autosomal dominant 35 11.5
31 intellectual developmental disorder, autosomal dominant 36 11.5
32 intellectual developmental disorder, autosomal dominant 38 11.5
33 intellectual developmental disorder, autosomal dominant 39 11.5
34 intellectual developmental disorder, autosomal dominant 41 11.5
35 intellectual developmental disorder, autosomal dominant 43 11.5
36 intellectual developmental disorder, autosomal dominant 45 11.5
37 intellectual developmental disorder, autosomal dominant 46 11.5
38 intellectual developmental disorder, autosomal dominant 47 11.5
39 intellectual developmental disorder, autosomal dominant 48 11.5
40 intellectual developmental disorder, autosomal dominant 51 11.5
41 intellectual developmental disorder, autosomal dominant 52 11.5
42 intellectual developmental disorder, autosomal dominant 53 11.5
43 intellectual developmental disorder, autosomal dominant 54 11.5
44 autosomal dominant intellectual developmental disorder 6 11.5
45 autosomal dominant intellectual developmental disorder 8 11.5
46 autosomal dominant intellectual developmental disorder 19 11.5
47 autosomal dominant intellectual developmental disorder 31 11.5
48 autosomal dominant intellectual developmental disorder 40 11.5
49 intellectual developmental disorder, autosomal dominant 57 11.5
50 intellectual developmental disorder, autosomal dominant 58 11.5

Graphical network of the top 20 diseases related to Autosomal Dominant Intellectual Developmental Disorder:



Diseases related to Autosomal Dominant Intellectual Developmental Disorder

Symptoms & Phenotypes for Autosomal Dominant Intellectual Developmental Disorder

GenomeRNAi Phenotypes related to Autosomal Dominant Intellectual Developmental Disorder according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-1 9.64 DPF2 SMARCE1 ARID1A BANF1 SMARCA4 SMARCB1
2 Increased Nanog expression GR00371-A-2 9.64 ARID2 DPF2 SMARCE1 SOX11
3 Increased Nanog expression GR00371-A-3 9.64 ARID2 DPF2 ARID1A
4 Increased Nanog expression GR00371-A-4 9.64 SOX11
5 Increased Nanog expression GR00371-A-5 9.64 ARID1A BANF1

MGI Mouse Phenotypes related to Autosomal Dominant Intellectual Developmental Disorder:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.5 ACTL6B ADNP ARID1A ARID1B ARID2 DPF2

Drugs & Therapeutics for Autosomal Dominant Intellectual Developmental Disorder

Search Clinical Trials, NIH Clinical Center for Autosomal Dominant Intellectual Developmental Disorder

Genetic Tests for Autosomal Dominant Intellectual Developmental Disorder

Anatomical Context for Autosomal Dominant Intellectual Developmental Disorder

Publications for Autosomal Dominant Intellectual Developmental Disorder

Articles related to Autosomal Dominant Intellectual Developmental Disorder:

(show all 40)
# Title Authors PMID Year
1
Generation of an induced pluripotent stem cell line (SDQLCHi044-A) from a patient with autosomal dominant mental retardation type 5 harboring heterozygous mutation in SYNGAP1 gene. 62
36183676 2022
2
A Novel SETBP1 Gene Disruption by a De Novo Balanced Translocation in a Patient with Speech Impairment, Intellectual, and Behavioral Disorder. 62
35769969 2022
3
Structural Protein Effects Underpinning Cognitive Developmental Delay of the PURA p.Phe233del Mutation Modelled by Artificial Intelligence and the Hybrid Quantum Mechanics-Molecular Mechanics Framework. 62
35884678 2022
4
[Clinical and genetic analysis of a child with mental retardation autosomal dominant 7]. 62
35598272 2022
5
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis. 62
33323470 2022
6
Hypoglycemia due to PI3K/AKT/mTOR signaling pathway defects: two novel cases and review of the literature. 62
33876391 2021
7
Two cases of DYNC1H1 mutations with intractable epilepsy. 62
34092403 2021
8
[Identification of a GNB1 gene variant in a child with autosomal dominant mental retardation 42]. 62
34096027 2021
9
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study. 62
33831796 2021
10
Generation of an induced pluripotent stem cell line from a patient with global development delay carrying DYRK1A mutation (c.1730T>A) and a gene correction isogenic iPSC line. 62
33813175 2021
11
[Identification of a novel mutation of MBD5 gene in a pedigree affected with autosomal dominant mental retardation type 1]. 62
33751537 2021
12
Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing. 62
33157260 2021
13
Expanding the phenotype of PURA-related neurodevelopmental disorder: a close differential diagnosis of infantile hypotonia with psychomotor retardation and characteristic facies. 62
33229923 2021
14
The New CIC Mutation Associates with Mental Retardation and Severity of Seizure in Turkish Child with a Rare Class I Glucose-6-Phosphate Dehydrogenase Deficiency. 62
32535712 2020
15
First-trimester cystic hygroma and neurodevelopmental disorders: The association to remember. 62
33218422 2020
16
The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification. 62
32788638 2020
17
The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes. 62
32337850 2020
18
[A case with autosomal dominant mental retardation type 5 due to de novo SYNGAP1 variant]. 62
32472547 2020
19
SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome. 62
32793091 2020
20
Extending the phenotype of Xia-Gibbs syndrome in a two-year-old patient with craniosynostosis with a novel de novo AHDC1 missense mutation. 62
30858058 2020
21
A de novo CTNNB1 Novel Splice Variant in an Adult Female with Severe Intellectual Disability. 62
33116939 2020
22
[De novo heterozygous mutation in the MBD5 gene associated with bilateral band heterotopia and polymicrogyria]. 62
31820818 2019
23
[Novel DYRK1A mutations in 2 individuals with autosomal dominant mental retardation-7]. 62
31594070 2019
24
GATAD2B-related intellectual disability due to parental mosaicism and review of literature. 62
31205050 2019
25
Expanding the phenotype in autosomal dominant mental retardation-24: a novel variation in DEAF1 gene. 62
30451703 2019
26
Schuurs-Hoeijmakers syndrome in a patient from India. 62
30690871 2019
27
MYT1L mutation in a patient causes intellectual disability and early onset of obesity: a case report and review of the literature. 62
30796847 2019
28
A Novel De Novo Frameshift Mutation in KAT6A Identified by Whole Exome Sequencing. 62
30775047 2019
29
A De Novo Mutation in DYRK1A Causes Syndromic Intellectual Disability: A Chinese Case Report. 62
31803247 2019
30
Novel Mutation of SYNGAP1 Associated with Autosomal Dominant Mental Retardation 5 in a Chinese Patient. 62
30572772 2018
31
Functional characterization of DYRK1A missense variants associated with a syndromic form of intellectual deficiency and autism. 62
29700199 2018
32
Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report. 62
28619046 2017
33
Three brothers with a nonsense mutation in KAT6A caused by parental germline mosaicism. 62
31754438 2017
34
DYRK1A, a Dosage-Sensitive Gene Involved in Neurodevelopmental Disorders, Is a Target for Drug Development in Down Syndrome. 62
27375444 2016
35
Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance. 62
25484024 2015
36
De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy. 62
19557857 2009
37
Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities. 62
18060736 2008
38
Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation. 62
17211639 2007
39
Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome. 62
16783566 2006
40
[Autosomal dominant mental retardation]. 62
16506130 2006

Variations for Autosomal Dominant Intellectual Developmental Disorder

Expression for Autosomal Dominant Intellectual Developmental Disorder

Search GEO for disease gene expression data for Autosomal Dominant Intellectual Developmental Disorder.

Pathways for Autosomal Dominant Intellectual Developmental Disorder

Pathways related to Autosomal Dominant Intellectual Developmental Disorder according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.6 SMARCE1 SMARCC2 SMARCB1 SMARCA4 SMARCA2 H2AC18
2
Show member pathways
13 ACTL6B ARID1A ARID1B ARID2 H2AC18 SMARCA2
3
Show member pathways
12.86 SMARCE1 SMARCC2 SMARCB1 SMARCA4 SMARCA2 H2AC18
4 12.32 SMARCC2 SMARCB1 SMARCA4 SMARCA2 ARID2 ARID1A
5
Show member pathways
12.1 SMARCE1 SMARCC2 SMARCB1 SMARCA4 SMARCA2 ARID1A
6
Show member pathways
11.91 SMARCE1 SMARCC2 SMARCB1 SMARCA4 SMARCA2 ARID1B
7
Show member pathways
11.7 SMARCC2 SMARCB1 SMARCA4 SMARCA2
8
Show member pathways
11.6 ACTL6B ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1
9 11.49 SMARCE1 SMARCA2 ARID1A
10 11.37 SMARCA4 SMARCA2 ACTL6B
11
Show member pathways
11.09 SMARCE1 SMARCC2 SMARCB1 SMARCA4 DPF2 ARID1B
12 10.86 SMARCE1 SMARCC2 SMARCB1 SMARCA4 SMARCA2 ARID2
13 10.81 SMARCE1 SMARCB1 SMARCA4

GO Terms for Autosomal Dominant Intellectual Developmental Disorder

Cellular components related to Autosomal Dominant Intellectual Developmental Disorder according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.71 ACTL6B ADNP AHDC1 ARID1A ARID1B ARID2
2 chromatin GO:0000785 10.6 ACTL6B ADNP ARID1A ARID1B ARID2 BANF1
3 nBAF complex GO:0071565 10.28 SMARCB1 SMARCA4 SMARCA2 DPF2 ARID1B ARID1A
4 kinetochore GO:0000776 10.27 ACTL6B ARID2 SMARCA4 SMARCB1 SMARCC2 SMARCE1
5 nuclear matrix GO:0016363 10.26 SMARCE1 SMARCC2 SMARCB1 SMARCA4 ARID2 ACTL6B
6 SWI/SNF complex GO:0016514 10.26 SMARCE1 SMARCC2 SMARCB1 SMARCA4 SMARCA2 DPF2
7 brahma complex GO:0035060 10.25 ACTL6B ARID1A ARID1B SMARCA2 SMARCB1 SMARCC2
8 RSC-type complex GO:0016586 10.21 ACTL6B ARID2 SMARCA4 SMARCB1 SMARCC2 SMARCE1
9 npBAF complex GO:0071564 10.21 ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCC2
10 bBAF complex GO:0140092 10.06 ACTL6B ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1
11 GBAF complex GO:0140288 9.99 SMARCA4 SMARCA2 ACTL6B
12 DNA packaging complex GO:0044815 9.5 ARID1A ARID1B ARID2 SMARCA2 SMARCA4 SMARCB1
13 SWI/SNF superfamily-type complex GO:0070603 9.17 ARID1A ARID1B ARID2 SMARCA2 SMARCA4 SMARCB1

Biological processes related to Autosomal Dominant Intellectual Developmental Disorder according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.58 ACTL6B ADNP ARID1A ARID1B ARID2 DPF2
2 nervous system development GO:0007399 10.48 SOX11 SMARCE1 SMARCC2 SMARCB1 SMARCA4 SMARCA2
3 chromatin remodeling GO:0006338 10.46 ACTL6B ARID1A ARID1B ARID2 DPF2 SMARCA2
4 positive regulation of DNA-templated transcription GO:0045893 10.45 ACTL6B ARID1A ARID1B SMARCA2 SMARCA4 SMARCC2
5 regulation of G0 to G1 transition GO:0070316 10.43 SMARCE1 SMARCC2 SMARCB1 SMARCA4 SMARCA2 DPF2
6 regulation of G1/S transition of mitotic cell cycle GO:2000045 10.4 ACTL6B ARID1A ARID1B ARID2 DPF2 SMARCA2
7 positive regulation of double-strand break repair GO:2000781 10.37 ACTL6B ARID1A ARID1B ARID2 DPF2 SMARCA2
8 positive regulation of stem cell population maintenance GO:1902459 10.36 ACTL6B ARID1A DPF2 SMARCA2 SMARCA4 SMARCB1
9 regulation of mitotic metaphase/anaphase transition GO:0030071 10.32 SMARCE1 SMARCC2 SMARCB1 SMARCA4 SMARCA2 DPF2
10 chromatin organization GO:0006325 10.29 ACTL6B ARID1A ARID1B ARID2 BANF1 DPF2
11 nucleosome disassembly GO:0006337 10.27 SMARCE1 SMARCC2 SMARCB1 SMARCA4 ARID2 ARID1A
12 positive regulation of myoblast differentiation GO:0045663 10.21 SMARCE1 SMARCC2 SMARCB1 SMARCA4 SMARCA2 ARID2
13 positive regulation of cell differentiation GO:0045597 10.11 SMARCE1 SMARCC2 SMARCB1 SMARCA4 SMARCA2 ARID2
14 negative regulation of cell differentiation GO:0045596 10.04 SMARCA4 SMARCA2 ACTL6B
15 positive regulation of T cell differentiation GO:0045582 9.91 SMARCE1 SMARCC2 SMARCB1 SMARCA4 SMARCA2 ARID2
16 RNA polymerase I preinitiation complex assembly GO:0001188 9.88 SMARCB1 SMARCA4
17 positive regulation of transcription of nucleolar large rRNA by RNA polymerase I GO:1901838 9.88 SMARCB1 SMARCA4
18 positive regulation of glucose mediated signaling pathway GO:1902661 9.86 SMARCB1 SMARCA4
19 regulation of nucleotide-excision repair GO:2000819 9.62 SMARCE1 SMARCC2 SMARCB1 SMARCA4 SMARCA2 DPF2

Molecular functions related to Autosomal Dominant Intellectual Developmental Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10 ADNP AHDC1 ARID1A ARID1B ARID2 BANF1
2 histone binding GO:0042393 9.91 SMARCC2 SMARCA4 SMARCA2 DPF2
3 nucleosomal DNA binding GO:0031492 9.76 SMARCE1 SMARCC2 SMARCB1 SMARCA4
4 Tat protein binding GO:0030957 9.62 SMARCB1 SMARCA4
5 RNA polymerase I core promoter sequence-specific DNA binding GO:0001164 9.56 SMARCB1 SMARCA4
6 transcription coactivator activity GO:0003713 9.53 SMARCE1 SMARCC2 SMARCB1 SMARCA4 SMARCA2 ARID1B

Sources for Autosomal Dominant Intellectual Developmental Disorder

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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