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MCID: SYN057
MIFTS: 31

Syndromic Intellectual Disability

Categories: Mental diseases
Genes Variations Tissues Related diseases Publications Pathways
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Aliases & Classifications for Syndromic Intellectual Disability

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MalaCards integrated aliases for Syndromic Intellectual Disability:

Name: Syndromic Intellectual Disability 12 29 6 15

Classifications:

MalaCards categories:
Anatomical: Mental diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:0050888
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Summaries for Syndromic Intellectual Disability

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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 TAF6 (TATA-Box Binding Protein Associated Factor 6), and among its related pathways/superpathways are Chromatin organization and Chromatin Regulation / Acetylation. Affiliated tissues include testes, skin and eye, and related phenotypes are Increased Nanog expression and Increased Nanog expression

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Related Diseases for Syndromic Intellectual Disability

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

(show top 50) (show all 107)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant non-syndromic intellectual disability 33.5 CHAMP1 POGZ SETD5 ZNF462
2 non-syndromic intellectual disability 33.5 DLG3 IQSEC2 TRAPPC9
3 autosomal recessive non-syndromic intellectual disability 33.5 MED13L MED25 TRAPPC9
4 x-linked non-specific intellectual disability 31.8 CLCN4 DLG3 IQSEC2
5 alacrima, achalasia, and mental retardation syndrome 31.2 ATRX BRPF1 DYRK1A IQSEC2 MED13L
6 microcephaly 30.1 ATRX DYRK1A EIF2S3 POGZ TRAPPC9
7 autosomal dominant non-syndromic intellectual disability 1 12.3
8 autosomal dominant non-syndromic intellectual disability 2 12.3
9 autosomal dominant non-syndromic intellectual disability 3 12.3
10 autosomal dominant non-syndromic intellectual disability 5 12.3
11 autosomal dominant non-syndromic intellectual disability 6 12.3
12 autosomal dominant non-syndromic intellectual disability 9 12.3
13 autosomal dominant non-syndromic intellectual disability 4 12.2
14 autosomal dominant non-syndromic intellectual disability 8 12.2
15 bain type of x-linked syndromic intellectual disability 12.2
16 syngap1-related non-syndromic intellectual disability 12.2
17 alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome 12.0
18 mental retardation, autosomal dominant 7 11.6
19 mental retardation, autosomal dominant 10 11.6
20 mental retardation, autosomal dominant 11 11.6
21 mental retardation, autosomal dominant 13 11.6
22 mental retardation, autosomal dominant 21 11.6
23 mental retardation, autosomal dominant 35 11.6
24 mental retardation, autosomal dominant 38 11.6
25 mental retardation, autosomal dominant 41 11.6
26 mental retardation, autosomal dominant 43 11.6
27 coffin-siris syndrome 1 11.5
28 masa syndrome 11.5
29 mental retardation, autosomal dominant 22 11.5
30 mental retardation, autosomal dominant 18 11.5
31 mental retardation, autosomal dominant 19 11.5
32 mental retardation, autosomal dominant 23 11.5
33 mental retardation, autosomal dominant 24 11.5
34 mental retardation, autosomal dominant 26 11.5
35 mental retardation, autosomal dominant 27 11.5
36 helsmoortel-van der aa syndrome 11.5
37 mental retardation, autosomal dominant 29 11.5
38 mental retardation, autosomal dominant 30 11.5
39 mental retardation, autosomal dominant 31 11.5
40 mental retardation, autosomal dominant 32 11.5
41 mental retardation, autosomal dominant 33 11.5
42 mental retardation, autosomal dominant 34 11.5
43 mental retardation, autosomal dominant 36 11.5
44 mental retardation, autosomal dominant 39 11.5
45 mental retardation, autosomal dominant 40 11.5
46 mental retardation, autosomal dominant 42 11.5
47 mental retardation, autosomal dominant 44 11.5
48 pitt-hopkins syndrome 11.3
49 syndromic x-linked intellectual disability 11.1
50 hernández-aguirre negrete syndrome 11.1

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



Diseases related to Syndromic Intellectual Disability
Sources

Symptoms & Phenotypes for Syndromic Intellectual Disability

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GenomeRNAi Phenotypes related to Syndromic Intellectual Disability according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-1 9.23 KDM2B SETD5
2 Increased Nanog expression GR00371-A-2 9.23 SETD5
3 Increased Nanog expression GR00371-A-3 9.23 SETD5
4 Increased Nanog expression GR00371-A-4 9.23 ATRX KDM2B SETD5
5 Increased Nanog expression GR00371-A-5 9.23 SETD5

MGI Mouse Phenotypes related to Syndromic Intellectual Disability:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.56 ATRX BRPF1 DLG3 DYRK1A KAT6A KDM2B
2 nervous system MP:0003631 9.32 ATRX BRPF1 DLG3 DYRK1A KAT6A KDM2B
Sources

Drugs & Therapeutics for Syndromic Intellectual Disability

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Search Clinical Trials , NIH Clinical Center for Syndromic Intellectual Disability

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Genetic Tests for Syndromic Intellectual Disability

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Genetic tests related to Syndromic Intellectual Disability:

# Genetic test Affiliating Genes
1 Syndromic Intellectual Disability 29
Sources

Anatomical Context for Syndromic Intellectual Disability

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MalaCards organs/tissues related to Syndromic Intellectual Disability:

41
Testes, Skin, Eye
Sources

Publications for Syndromic Intellectual Disability

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Articles related to Syndromic Intellectual Disability:

(show top 50) (show all 60)
# Title Authors Year
1
Exome sequencing reveals three homozygous missense variants in SNRPA in two sisters with syndromic intellectual disability. ( 29437235 )
2018
2
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases. ( 29574747 )
2018
3
A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature. ( 29066376 )
2018
4
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. ( 29656859 )
2018
5
ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder. ( 29427787 )
2018
6
Mutations of ARX and non-syndromic intellectual disability in Chinese population. ( 30255221 )
2018
7
Novel MEF2C point mutations in Chinese patients with Rett (-like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation. ( 30376817 )
2018
8
Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases. ( 30174453 )
2018
9
Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report. ( 28619046 )
2017
10
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation. ( 27939640 )
2017
11
Identification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly. ( 29031008 )
2017
12
The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey. ( 28815955 )
2017
13
Novel LINS1 missense mutation in a family with non-syndromic intellectual disability. ( 28181389 )
2017
14
Corrigendum: Novel KCNB1 mutation associated with non-syndromic intellectual disability. ( 28439095 )
2017
15
Gene networks associated with non-syndromic intellectual disability. ( 29199528 )
2017
16
Molecular genetic characterization of a prenatally detected 1.484-Mb Xq13.3-q21.1 duplication encompassing ATRX and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1. ( 28600056 )
2017
17
STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability. ( 28119487 )
2017
18
Novel KCNB1 mutation associated with non-syndromic intellectual disability. ( 27928161 )
2016
19
Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. ( 27848077 )
2016
20
Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome. ( 27132474 )
2016
21
Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disability. ( 27452446 )
2016
22
An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability. ( 27106595 )
2016
23
Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability. ( 26657932 )
2016
24
Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability. ( 26997977 )
2016
25
SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression. ( 27375234 )
2016
26
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability. ( 26751395 )
2016
27
POGZ truncating alleles cause syndromic intellectual disability. ( 26739615 )
2016
28
A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex. ( 27132593 )
2016
29
Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature. ( 26922654 )
2016
30
De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy? ( 27500536 )
2016
31
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. ( 27550844 )
2016
32
A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum. ( 27108999 )
2016
33
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing. ( 27620904 )
2016
34
Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly. ( 27718516 )
2016
35
Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy. ( 27333055 )
2016
36
A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability. ( 27222290 )
2016
37
Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability. ( 26411299 )
2015
38
A New Role for LOC101928437 in Non-Syndromic Intellectual Disability: Findings from a Family-Based Association Test. ( 26287547 )
2015
39
Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects. ( 25712129 )
2015
40
Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant. ( 25597765 )
2015
41
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. ( 25920557 )
2015
42
Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family. ( 25527630 )
2015
43
RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability. ( 25846674 )
2015
44
Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects. ( 26571461 )
2015
45
Investigation of microdeletions in syndromic intellectual disability by MLPA in Iranian population. ( 24979557 )
2014
46
Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for the ATRX gene. ( 24458433 )
2014
47
Interstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability: 30-year follow-up. ( 25295072 )
2014
48
A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability. ( 25281490 )
2014
49
A non-syndromic intellectual disability associated with a de novo microdeletion at 7q and 18p, microduplication at Xp, and 18q partial trisomy detected using chromosomal microarray analysis approach. ( 25028595 )
2014
50
Phosphodiesterase activity is regulated by CC2D1A that is implicated in non-syndromic intellectual disability. ( 23826796 )
2013
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Variations for Syndromic Intellectual Disability

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ClinVar genetic disease variations for Syndromic Intellectual Disability:

6 (show top 50) (show all 290)
# Gene Variation Type Significance SNP ID Assembly Location
1 KANSL1 NM_001193466.1(KANSL1): c.2109A> G (p.Leu703=) single nucleotide variant Benign/Likely benign rs34101027 GRCh37 Chromosome 17, 44117162: 44117162
2 KANSL1 NM_001193466.1(KANSL1): c.2109A> G (p.Leu703=) single nucleotide variant Benign/Likely benign rs34101027 GRCh38 Chromosome 17, 46039796: 46039796
3 KANSL1 NM_001193466.1(KANSL1): c.2136G> A (p.Pro712=) single nucleotide variant Benign rs2277613 GRCh37 Chromosome 17, 44117135: 44117135
4 KANSL1 NM_001193466.1(KANSL1): c.2136G> A (p.Pro712=) single nucleotide variant Benign rs2277613 GRCh38 Chromosome 17, 46039769: 46039769
5 KANSL1 NM_001193466.1(KANSL1): c.2481C> T (p.Ser827=) single nucleotide variant Benign/Likely benign rs143653891 GRCh37 Chromosome 17, 44115964: 44115964
6 KANSL1 NM_001193466.1(KANSL1): c.2481C> T (p.Ser827=) single nucleotide variant Benign/Likely benign rs143653891 GRCh38 Chromosome 17, 46038598: 46038598
7 KANSL1 NM_001193466.1(KANSL1): c.2628C> T (p.Arg876=) single nucleotide variant Benign/Likely benign rs149756887 GRCh37 Chromosome 17, 44111565: 44111565
8 KANSL1 NM_001193466.1(KANSL1): c.2628C> T (p.Arg876=) single nucleotide variant Benign/Likely benign rs149756887 GRCh38 Chromosome 17, 46034199: 46034199
9 KANSL1 NM_001193466.1(KANSL1): c.2698G> A (p.Gly900Arg) single nucleotide variant Benign/Likely benign rs74867664 GRCh37 Chromosome 17, 44110795: 44110795
10 KANSL1 NM_001193466.1(KANSL1): c.2698G> A (p.Gly900Arg) single nucleotide variant Benign/Likely benign rs74867664 GRCh38 Chromosome 17, 46033429: 46033429
11 KANSL1 NM_001193466.1(KANSL1): c.773T> C (p.Leu258Ser) single nucleotide variant Benign/Likely benign rs145714368 GRCh37 Chromosome 17, 44248737: 44248737
12 KANSL1 NM_001193466.1(KANSL1): c.773T> C (p.Leu258Ser) single nucleotide variant Benign/Likely benign rs145714368 GRCh38 Chromosome 17, 46171371: 46171371
13 KAT6A NM_006766.4(KAT6A): c.3116_3117delCT (p.Ser1039Terfs) deletion Pathogenic rs786200959 GRCh37 Chromosome 8, 41795009: 41795010
14 KAT6A NM_006766.4(KAT6A): c.3116_3117delCT (p.Ser1039Terfs) deletion Pathogenic rs786200959 GRCh38 Chromosome 8, 41937491: 41937492
15 TAF6 NM_005641.3(TAF6): c.212T> C (p.Ile71Thr) single nucleotide variant Pathogenic/Likely pathogenic rs374993554 GRCh38 Chromosome 7, 100113899: 100113899
16 TAF6 NM_005641.3(TAF6): c.212T> C (p.Ile71Thr) single nucleotide variant Pathogenic/Likely pathogenic rs374993554 GRCh37 Chromosome 7, 99711522: 99711522
17 KAT6A NM_006766.4(KAT6A): c.3879dupA (p.Glu1294Argfs) duplication Pathogenic rs786200952 GRCh38 Chromosome 8, 41934341: 41934341
18 KAT6A NM_006766.4(KAT6A): c.3879dupA (p.Glu1294Argfs) duplication Pathogenic rs786200952 GRCh37 Chromosome 8, 41791859: 41791859
19 KANSL1 NM_001193466.1(KANSL1): c.2683C> G (p.Leu895Val) single nucleotide variant Benign/Likely benign rs555819683 GRCh38 Chromosome 17, 46033444: 46033444
20 KANSL1 NM_001193466.1(KANSL1): c.2683C> G (p.Leu895Val) single nucleotide variant Benign/Likely benign rs555819683 GRCh37 Chromosome 17, 44110810: 44110810
21 KANSL1 NM_001193466.1(KANSL1): c.1857G> T (p.Arg619=) single nucleotide variant Conflicting interpretations of pathogenicity rs191986791 GRCh37 Chromosome 17, 44128062: 44128062
22 KANSL1 NM_001193466.1(KANSL1): c.1857G> T (p.Arg619=) single nucleotide variant Conflicting interpretations of pathogenicity rs191986791 GRCh38 Chromosome 17, 46050696: 46050696
23 KANSL1 NM_001193466.1(KANSL1): c.1423G> A (p.Ala475Thr) single nucleotide variant Benign/Likely benign rs547462953 GRCh37 Chromosome 17, 44171934: 44171934
24 KANSL1 NM_001193466.1(KANSL1): c.1423G> A (p.Ala475Thr) single nucleotide variant Benign/Likely benign rs547462953 GRCh38 Chromosome 17, 46094568: 46094568
25 KANSL1 NM_001193466.1(KANSL1): c.1124C> T (p.Ser375Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs142696045 GRCh37 Chromosome 17, 44248386: 44248386
26 KANSL1 NM_001193466.1(KANSL1): c.1124C> T (p.Ser375Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs142696045 GRCh38 Chromosome 17, 46171020: 46171020
27 KANSL1 NM_001193466.1(KANSL1): c.800A> G (p.Lys267Arg) single nucleotide variant Benign/Likely benign rs140181991 GRCh37 Chromosome 17, 44248710: 44248710
28 KANSL1 NM_001193466.1(KANSL1): c.800A> G (p.Lys267Arg) single nucleotide variant Benign/Likely benign rs140181991 GRCh38 Chromosome 17, 46171344: 46171344
29 KANSL1 NM_001193466.1(KANSL1): c.727C> A (p.Gln243Lys) single nucleotide variant Benign/Likely benign rs142096969 GRCh37 Chromosome 17, 44248783: 44248783
30 KANSL1 NM_001193466.1(KANSL1): c.727C> A (p.Gln243Lys) single nucleotide variant Benign/Likely benign rs142096969 GRCh38 Chromosome 17, 46171417: 46171417
31 KANSL1 NM_001193466.1(KANSL1): c.688A> G (p.Asn230Asp) single nucleotide variant Likely benign rs34756740 GRCh37 Chromosome 17, 44248822: 44248822
32 KANSL1 NM_001193466.1(KANSL1): c.688A> G (p.Asn230Asp) single nucleotide variant Likely benign rs34756740 GRCh38 Chromosome 17, 46171456: 46171456
33 KANSL1 NM_001193466.1(KANSL1): c.680G> A (p.Ser227Asn) single nucleotide variant Benign/Likely benign rs150345690 GRCh37 Chromosome 17, 44248830: 44248830
34 KANSL1 NM_001193466.1(KANSL1): c.680G> A (p.Ser227Asn) single nucleotide variant Benign/Likely benign rs150345690 GRCh38 Chromosome 17, 46171464: 46171464
35 KANSL1 NM_001193466.1(KANSL1): c.635A> G (p.His212Arg) single nucleotide variant Benign/Likely benign rs141110759 GRCh37 Chromosome 17, 44248875: 44248875
36 KANSL1 NM_001193466.1(KANSL1): c.635A> G (p.His212Arg) single nucleotide variant Benign/Likely benign rs141110759 GRCh38 Chromosome 17, 46171509: 46171509
37 KANSL1 NM_001193466.1(KANSL1): c.571G> T (p.Gly191Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs149566146 GRCh37 Chromosome 17, 44248939: 44248939
38 KANSL1 NM_001193466.1(KANSL1): c.571G> T (p.Gly191Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs149566146 GRCh38 Chromosome 17, 46171573: 46171573
39 KANSL1 NM_001193466.1(KANSL1): c.296A> G (p.Gln99Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs754727332 GRCh37 Chromosome 17, 44249214: 44249214
40 KANSL1 NM_001193466.1(KANSL1): c.296A> G (p.Gln99Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs754727332 GRCh38 Chromosome 17, 46171848: 46171848
41 KANSL1 NM_001193466.1(KANSL1): c.30C> T (p.Asp10=) single nucleotide variant Benign/Likely benign rs200649587 GRCh37 Chromosome 17, 44249480: 44249480
42 KANSL1 NM_001193466.1(KANSL1): c.30C> T (p.Asp10=) single nucleotide variant Benign/Likely benign rs200649587 GRCh38 Chromosome 17, 46172114: 46172114
43 KANSL1; MAPT NM_005910.5(MAPT): c.*1047C> T single nucleotide variant Benign/Likely benign rs113815715 GRCh38 Chromosome 17, 46025218: 46025218
44 KANSL1; MAPT NM_005910.5(MAPT): c.*1047C> T single nucleotide variant Benign/Likely benign rs113815715 GRCh37 Chromosome 17, 44102584: 44102584
45 KANSL1; MAPT NM_001123066.3(MAPT): c.*1152G> C single nucleotide variant Benign rs1052594 GRCh38 Chromosome 17, 46025323: 46025323
46 KANSL1; MAPT NM_001123066.3(MAPT): c.*1152G> C single nucleotide variant Benign rs1052594 GRCh37 Chromosome 17, 44102689: 44102689
47 KANSL1; MAPT NM_005910.5(MAPT): c.*1396T> C single nucleotide variant Benign rs16940799 GRCh38 Chromosome 17, 46025567: 46025567
48 KANSL1; MAPT NM_005910.5(MAPT): c.*1396T> C single nucleotide variant Benign rs16940799 GRCh37 Chromosome 17, 44102933: 44102933
49 KANSL1; MAPT NM_005910.5(MAPT): c.*1465C> T single nucleotide variant Likely benign rs189665411 GRCh37 Chromosome 17, 44103002: 44103002
50 KANSL1; MAPT NM_005910.5(MAPT): c.*1465C> T single nucleotide variant Likely benign rs189665411 GRCh38 Chromosome 17, 46025636: 46025636
Sources

Expression for Syndromic Intellectual Disability

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

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

# Super pathways Score Top Affiliating Genes
1
Chromatin organization 66
Show member pathways
 12.2 BRPF1 KAT6A KDM2B PRMT7 SETD1B
2
Chromatin Regulation / Acetylation 4
11.33 ATRX KDM2B PRMT7 SETD1B
Sources

GO Terms for Syndromic Intellectual Disability

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

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.73 ATRX BRPF1 CHAMP1 DYRK1A KAT6A KDM2B
2 chromosome GO:0005694 9.72 ATRX CHAMP1 POGZ SETD1B TELO2
3 nucleus GO:0005634 9.53 ATRX BRPF1 CHAMP1 DYRK1A EIF2S3 KAT6A
4 histone methyltransferase complex GO:0035097 9.33 POGZ SETD1B ZNF462
5 MOZ/MORF histone acetyltransferase complex GO:0070776 9.26 BRPF1 KAT6A

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

# Name GO ID Score Top Affiliating Genes
1 chromatin organization GO:0006325 9.28 ATRX BRPF1 KAT6A KDM2B PRMT7 SETD1B
2 regulation of signal transduction by p53 class mediator GO:1901796 9.13 BRPF1 KAT6A TAF6

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

# Name GO ID Score Top Affiliating Genes
1 histone binding GO:0042393 8.8 ATRX KAT6A PRMT7
Sources

Sources for Syndromic Intellectual Disability

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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