MCID: NNS045
MIFTS: 42

Non-Specific Syndromic Intellectual Disability

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Non-Specific Syndromic Intellectual Disability

Summaries for Non-Specific Syndromic Intellectual Disability

MalaCards based summary : Non-Specific Syndromic Intellectual Disability, also known as complex neurodevelopmental disorder, is related to seizure disorder and autism. An important gene associated with Non-Specific Syndromic Intellectual Disability is CHD2 (Chromodomain Helicase DNA Binding Protein 2), and among its related pathways/superpathways is Neuroscience. Affiliated tissues include cortex, brain and cerebellum, and related phenotypes are intellectual disability, mild and delayed gross motor development

Related Diseases for Non-Specific Syndromic Intellectual Disability

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

(show all 24)
# Related Disease Score Top Affiliating Genes
1 seizure disorder 29.9 SCN2A DYRK1A CSRNP3 CHD2 BPTF
2 autism 29.6 SYNGAP1 SCN2A MYT1L GRIN2B DYRK1A BPTF
3 alacrima, achalasia, and mental retardation syndrome 29.5 SYNGAP1 SCN2A MYT1L GRIN2B DYRK1A CHD2
4 autism spectrum disorder 29.3 SYNGAP1 SCN2A MYT1L MED13 GRIN2B DOCK3
5 yuan-harel-lupski syndrome 11.0
6 spastic paraplegia and psychomotor retardation with or without seizures 11.0
7 developmental delay with or without dysmorphic facies and autism 11.0
8 landau-kleffner syndrome 10.2 SCN2A GRIN2B
9 17q24.2 microdeletion syndrome 10.2 PSMD12 BPTF
10 lennox-gastaut syndrome 10.2 SCN2A GRIN2B CHD2
11 dravet syndrome 10.1 SYNGAP1 SCN2A GRIN2B CSRNP3 CHD2
12 pervasive developmental disorder 10.0 SYNGAP1 SCN2A GRIN2B
13 early infantile epileptic encephalopathy 10.0 SYNGAP1 SCN2A GRIN2B CSRNP3
14 clark-baraitser syndrome 10.0 ACTL6B ACTL6A
15 helsmoortel-van der aa syndrome 9.9
16 neurodevelopmental disorder with impaired speech and hyperkinetic movements 9.9
17 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 9.9
18 dystonia 9.9
19 adnp-related intellectual disability and autism spectrum disorder 9.9
20 hypotonia 9.9
21 tremor 9.9
22 autosomal dominant non-syndromic intellectual disability 9.9 SYNGAP1 SCN2A MYT1L GRIN2B DYRK1A ACTL6B
23 epilepsy 9.8 SYNGAP1 SCN2A KMT2E GRIN2B CSRNP3 CHD2
24 disease of mental health 9.2 SYNGAP1 SCN2A PSMD12 NTNG1 MYT1L KMT2E

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



Diseases related to Non-Specific Syndromic Intellectual Disability

Symptoms & Phenotypes for Non-Specific Syndromic Intellectual Disability

Human phenotypes related to Non-Specific Syndromic Intellectual Disability:

58 31 (show top 50) (show all 74)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
2 delayed gross motor development 58 31 frequent (33%) Frequent (79-30%) HP:0002194
3 autistic behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000729
4 receptive language delay 58 31 frequent (33%) Frequent (79-30%) HP:0010863
5 sleep disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002360
6 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
7 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
8 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
9 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
10 precocious puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000826
11 depressed nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005280
12 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
13 macrotia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000400
14 hip dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001385
15 wide nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000431
16 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
17 smooth philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000319
18 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
19 broad thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0011304
20 prominent forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0011220
21 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
22 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
23 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
24 disproportionate tall stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0001519
25 narrow face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000275
26 joint hypermobility 58 31 occasional (7.5%) Occasional (29-5%) HP:0001382
27 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
28 pulmonary artery dilatation 58 31 occasional (7.5%) Occasional (29-5%) HP:0004927
29 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
30 conductive hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000405
31 highly arched eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0002553
32 long face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000276
33 long philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000343
34 nasal speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001611
35 high forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000348
36 blepharophimosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000581
37 down-sloping shoulders 58 31 occasional (7.5%) Occasional (29-5%) HP:0200021
38 short hallux 58 31 occasional (7.5%) Occasional (29-5%) HP:0010109
39 pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001761
40 severe global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0011344
41 thin vermilion border 58 31 occasional (7.5%) Occasional (29-5%) HP:0000233
42 decreased body weight 58 31 occasional (7.5%) Occasional (29-5%) HP:0004325
43 astigmatism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000483
44 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
45 aphasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002381
46 relative macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0004482
47 cafe-au-lait spot 58 31 occasional (7.5%) Occasional (29-5%) HP:0000957
48 aortic root aneurysm 58 31 occasional (7.5%) Occasional (29-5%) HP:0002616
49 frontal cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0006913
50 speech apraxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011098

MGI Mouse Phenotypes related to Non-Specific Syndromic Intellectual Disability:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.5 ACTL6A ACTL6B BPTF CHD2 CSRNP3 DDX6

Drugs & Therapeutics for Non-Specific Syndromic Intellectual Disability

Search Clinical Trials , NIH Clinical Center for Non-Specific Syndromic Intellectual Disability

Genetic Tests for Non-Specific Syndromic Intellectual Disability

Anatomical Context for Non-Specific Syndromic Intellectual Disability

MalaCards organs/tissues related to Non-Specific Syndromic Intellectual Disability:

40
Cortex, Brain, Cerebellum, Monocytes, T Cells, Prefrontal Cortex, Pituitary

Publications for Non-Specific Syndromic Intellectual Disability

Articles related to Non-Specific Syndromic Intellectual Disability:

(show top 50) (show all 194)
# Title Authors PMID Year
1
Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7. 61
33553621 2021
2
Healing autism spectrum disorder with cannabinoids: a neuroinflammatory story. 61
33358985 2021
3
Aggravation of autism-like behavior in BTBR T+tf/J mice by environmental pollutant, di-(2-ethylhexyl) phthalate: Role of nuclear factor erythroid 2-related factor 2 and oxidative enzymes in innate immune cells and cerebellum. 61
33385713 2021
4
Elevated Expression of SLC6A4 Encoding the Serotonin Transporter (SERT) in Gilles de la Tourette Syndrome. 61
33445578 2021
5
Alteration of TRIM33 Expression at Transcriptional and Translational Levels is Correlated with Autism Symptoms. 61
33481220 2021
6
Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration. 61
33397746 2021
7
Examining volumetric gradients based on the frustum surface ratio in the brain in autism spectrum disorder. 61
33295656 2020
8
Effects of Non-invasive Neurostimulation on Autism Spectrum Disorder: A Systematic Review. 61
33124586 2020
9
Organic features of autonomic dysregulation in paediatric brain injury - Clinical and research implications for the management of patients with Rett syndrome. 61
32861739 2020
10
Human Cerebral Organoids Reveal Early Spatiotemporal Dynamics and Pharmacological Responses of UBE3A. 61
32916124 2020
11
Cytokine expression profiles in Autism spectrum disorder: A multi-center study from Turkey. 61
32563959 2020
12
Perinatal supplementation with omega-3 fatty acids corrects the aberrant social and cognitive traits observed in a genetic model of autism based on FMR1 deletion in rats. 61
32912100 2020
13
Gut microbiota on gender bias in autism spectrum disorder. 61
32887209 2020
14
Cerebrospinal fluid endocannabinoid levels in Gilles de la Tourette syndrome. 61
32272483 2020
15
Whole-Exome Sequencing Identifies Three Candidate Homozygous Variants in a Consanguineous Iranian Family with Autism Spectrum Disorder and Skeletal Problems. 61
32655337 2020
16
Deep Brain Stimulation for Gilles de la Tourette Syndrome: Toward Limbic Targets. 61
32429219 2020
17
The Development of a Practical Artificial Intelligence Tool for Diagnosing and Evaluating Autism Spectrum Disorder: Multicenter Study. 61
32041690 2020
18
Oxiracetam and Zinc Ameliorates Autism-Like Symptoms in Propionic Acid Model of Rats. 61
32026359 2020
19
Differential regulation of Nrf2 is linked to elevated inflammation and nitrative stress in monocytes of children with autism. 61
31884317 2020
20
Exome sequencing identifies de novo splicing variant in XRCC6 in sporadic case of autism. 61
31827253 2020
21
Genetic evidence of gender difference in autism spectrum disorder supports the female-protective effect. 61
32066658 2020
22
A study of voice and non-voice processing in Prader-Willi syndrome. 61
31959191 2020
23
Transcriptome analysis of fibroblasts from schizophrenia patients reveals differential expression of schizophrenia-related genes. 61
31959813 2020
24
Inherited duplication of the pseudoautosomal region Xq28 in a subject with Gilles de la Tourette syndrome and intellectual disability: a case report. 61
32582378 2020
25
Dietary Phytochemicals as Neurotherapeutics for Autism Spectrum Disorder: Plausible Mechanism and Evidence. 61
32006377 2020
26
Natural Products and Their Therapeutic Effect on Autism Spectrum Disorder. 61
32006376 2020
27
Probiotics and oxytocin nasal spray as neuro-social-behavioral interventions for patients with autism spectrum disorders: a pilot randomized controlled trial protocol. 61
32082606 2020
28
Overview and Introduction to Autism Spectrum Disorder (ASD). 61
32006355 2020
29
Exergames for Children and Adolescents with Autism Spectrum Disorder: An Overview. 61
32508964 2020
30
The Effect of Autistic Traits on Social Orienting in Typically Developing Individuals. 61
32425859 2020
31
Bezafibrate Improves Mitochondrial Fission and Function in DNM1L-Deficient Patient Cells. 61
32012656 2020
32
Effects of repetitive transcranial magnetic stimulation on children with low-function autism. 61
31228356 2019
33
Mullerian inhibiting substance, sex hormone binding globulin and sex hormone levels in stimulant-naïve, first-diagnosed prepubertal boys with attention-deficit/hyperactivity disorder: comparison with matched healthy controls as well as before and after oros-methylpenidate treatment. 61
31339400 2019
34
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia. 61
31036918 2019
35
Gene-based analysis of ADHD using PASCAL: a biological insight into the novel associated genes. 61
31651322 2019
36
The Stat3 inhibitor, S3I-201, downregulates lymphocyte activation markers, chemokine receptors, and inflammatory cytokines in the BTBR T+ Itpr3tf/J mouse model of autism. 61
31299319 2019
37
The Global Prader-Willi Syndrome Registry: Development, Launch, and Early Demographics. 61
31540108 2019
38
Role of the endocannabinoid system in neurological disorders. 61
30858029 2019
39
FOXG1 Regulates PRKAR2B Transcriptionally and Posttranscriptionally via miR200 in the Adult Hippocampus. 61
30539330 2019
40
An Autism-Related, Nonsense Foxp1 Mutant Induces Autophagy and Delays Radial Migration of the Cortical Neurons. 61
30124790 2019
41
Genetic association of DNMT variants can play a critical role in defining the methylation patterns in autism. 61
30786140 2019
42
Replication of previous GWAS hits suggests the association between rs4307059 near MSNP1AS and autism in a Chinese Han population. 61
30610940 2019
43
Family-based association study of ZNF804A polymorphisms and autism in a Han Chinese population. 61
31122238 2019
44
PREDICTION OF TREATMENT OUTCOME FOR AUTISM FROM STRUCTURE OF THE BRAIN BASED ON SURE INDEPENDENCE SCREENING. 61
32256966 2019
45
Transient increased thalamic-sensory connectivity and decreased whole-brain dynamism in autism. 61
29883735 2019
46
Guideline Development for Technological Interventions for Children and Young People to Self-Manage Attention Deficit Hyperactivity Disorder: Realist Evaluation. 61
30942692 2019
47
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP. 61
29724491 2019
48
Prevalence and Treatment Patterns of Autism Spectrum Disorder in the United States, 2016. 61
30508021 2019
49
Behavioral profiles in Rett syndrome: Data from the natural history study. 61
30217666 2019
50
Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene. 61
30664616 2019

Variations for Non-Specific Syndromic Intellectual Disability

ClinVar genetic disease variations for Non-Specific Syndromic Intellectual Disability:

6 (show top 50) (show all 166)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CSRNP3 GRCh37/hg19 2q24.3(chr2:166060478-166349787)x1 copy number loss Pathogenic 984751 2:166060478-166349787
2 SCN2A NM_001040142.2(SCN2A):c.605+1G>A SNV Pathogenic 619986 2:166165305-166165305 2:165308795-165308795
3 SCN2A NM_001040142.2(SCN2A):c.386+2T>C SNV Pathogenic 449290 rs1553564400 2:166153647-166153647 2:165297137-165297137
4 SCN2A NM_001040142.2(SCN2A):c.2388+1G>A SNV Pathogenic 984752 2:166188079-166188079 2:165331569-165331569
5 SCN2A NM_001040142.2(SCN2A):c.4308+2T>C SNV Pathogenic 207001 rs796053139 2:166234162-166234162 2:165377652-165377652
6 DYRK1A NM_001347721.2(DYRK1A):c.301-2A>G SNV Pathogenic 984756 21:38852938-38852938 21:37480636-37480636
7 DYRK1A GRCh37/hg19 21q22.13(chr21:38744158-38830251)x1 copy number loss Pathogenic 984757 21:38744158-38830251
8 DYRK1A NCBI36/hg18 21q22.13-22.2(chr21:37662974-39195976)x1 copy number loss Pathogenic 984686
9 DYRK1A NCBI36/hg18 21q22.13-22.2(chr21:37662974-39236719)x1 copy number loss Pathogenic 984687
10 SCN2A NM_001040142.2(SCN2A):c.605+1G>T SNV Pathogenic 207039 rs796053171 2:166165305-166165305 2:165308795-165308795
11 SCN2A NM_001040142.2(SCN2A):c.4308+1G>A SNV Pathogenic 265589 rs886039648 2:166234161-166234161 2:165377651-165377651
12 SYNGAP1 NM_006772.3(SYNGAP1):c.2294+1G>T SNV Pathogenic 452569 rs1554121970 6:33409537-33409537 6:33441760-33441760
13 SYNGAP1 NM_006772.3(SYNGAP1):c.3408+1G>T SNV Pathogenic 984764 6:33411738-33411738 6:33443961-33443961
14 SYNGAP1 NM_006772.3(SYNGAP1):c.3583-9G>A SNV Pathogenic 537000 rs1554122689 6:33414343-33414343 6:33446566-33446566
15 DYRK1A NM_001347721.2(DYRK1A):c.434del (p.Lys145fs) Deletion Pathogenic 204006 rs797044521 21:38853070-38853070 21:37480768-37480768
16 DYRK1A NM_001347721.2(DYRK1A):c.658_659del (p.Met220fs) Deletion Pathogenic 520853 rs1555984102 21:38862496-38862497 21:37490194-37490195
17 DYRK1A NM_001347721.2(DYRK1A):c.424_439del (p.Asn142fs) Deletion Pathogenic 984805 21:38853062-38853077 21:37480760-37480775
18 DYRK1A NM_001347721.2(DYRK1A):c.220dup (p.Gln74fs) Duplication Pathogenic 524106 rs1555979106 21:38850518-38850519 21:37478216-37478217
19 GRIN2B NM_000834.4(GRIN2B):c.2459G>C (p.Gly820Ala) SNV Pathogenic 208643 rs797044849 12:13720098-13720098 12:13567164-13567164
20 SCN2A NM_001040142.2(SCN2A):c.167T>A (p.Leu56Ter) SNV Pathogenic 984813 2:166152500-166152500 2:165295990-165295990
21 SCN2A NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His) SNV Pathogenic 207019 2:166245202-166245202 2:165388692-165388692
22 SCN2A NM_001040142.2(SCN2A):c.304C>T (p.Arg102Ter) SNV Pathogenic 29885 rs387906683 2:166153563-166153563 2:165297053-165297053
23 SCN2A NM_001040142.2(SCN2A):c.4406_4409delinsATGT (p.Ile1469_Gly1470delinsAsnVal) Indel Pathogenic 984814 2:166237199-166237202 2:165380689-165380692
24 GRIN2B NM_000834.4(GRIN2B):c.1823T>A (p.Leu608Ter) SNV Pathogenic 285854 rs886043237 12:13761724-13761724 12:13608790-13608790
25 SCN2A NM_001040142.2(SCN2A):c.4727del (p.Gly1576fs) Deletion Pathogenic 545912 rs1553463096 2:166243430-166243430 2:165386920-165386920
26 SCN2A NM_001040142.2(SCN2A):c.2809C>T (p.Arg937Cys) SNV Pathogenic 207080 rs796053197 2:166201311-166201311 2:165344801-165344801
27 SCN2A NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) SNV Pathogenic 194555 rs794727152 2:166198975-166198975 2:165342465-165342465
28 SCN2A NM_001040142.2(SCN2A):c.5318C>T (p.Ala1773Val) SNV Pathogenic 520893 rs1553463602 2:166245634-166245634 2:165389124-165389124
29 SCN2A NM_001040142.2(SCN2A):c.2877C>A (p.Cys959Ter) SNV Pathogenic 410979 rs746163041 2:166201379-166201379 2:165344869-165344869
30 SCN2A NM_001040142.2(SCN2A):c.3374del (p.Glu1125fs) Deletion Pathogenic 130220 rs587780450 2:166211156-166211156 2:165354646-165354646
31 SCN2A NM_001040142.2(SCN2A):c.4726G>A (p.Gly1576Arg) SNV Pathogenic 224078 rs869312664 2:166243430-166243430 2:165386920-165386920
32 SCN2A NM_001040142.2(SCN2A):c.252C>A (p.Tyr84Ter) SNV Pathogenic 984819 2:166152585-166152585 2:165296075-165296075
33 DYRK1A NM_001347721.2(DYRK1A):c.630C>A (p.Tyr210Ter) SNV Pathogenic 265592 rs746177928 21:38858909-38858909 21:37486607-37486607
34 DYRK1A NM_001347721.2(DYRK1A):c.1282C>T (p.Arg428Ter) SNV Pathogenic 162158 rs724159953 21:38877655-38877655 21:37505352-37505352
35 DYRK1A NM_001347721.2(DYRK1A):c.1626C>A (p.Cys542Ter) SNV Pathogenic 420964 rs376106351 21:38878508-38878508 21:37506205-37506205
36 DYRK1A NM_001347721.2(DYRK1A):c.545_548del (p.Lys182fs) Deletion Pathogenic 423335 rs1064796367 21:38858822-38858825 21:37486520-37486523
37 DYRK1A NM_001347721.2(DYRK1A):c.1008G>A (p.Trp336Ter) SNV Pathogenic 522162 rs1555985642 21:38865402-38865402 21:37493100-37493100
38 DYRK1A NM_001347721.2(DYRK1A):c.1373dup (p.Ile459fs) Duplication Pathogenic 441126 rs1555990946 21:38877745-38877746 21:37505442-37505443
39 DYRK1A NM_001347721.2(DYRK1A):c.678_680delinsAC (p.Cys226_Leu227delinsTer) Indel Pathogenic 430402 rs1131691946 21:38862517-38862519 21:37490215-37490217
40 SCN2A NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln) SNV Pathogenic 12880 2:166229841-166229841 2:165373331-165373331
41 SCN2A NM_001040142.2(SCN2A):c.2995G>A (p.Glu999Lys) SNV Pathogenic 206981 rs796053126 2:166210777-166210777 2:165354267-165354267
42 SCN2A NM_001040142.2(SCN2A):c.3464_3468del (p.Glu1155fs) Deletion Pathogenic 808849 rs1574691534 2:166221715-166221719 2:165365205-165365209
43 SYNGAP1 NM_006772.3(SYNGAP1):c.490C>T (p.Arg164Ter) SNV Pathogenic 373327 rs1057518352 6:33400564-33400564 6:33432787-33432787
44 SYNGAP1 NM_006772.3(SYNGAP1):c.1861C>T (p.Arg621Ter) SNV Pathogenic 411589 rs1060503386 6:33408690-33408690 6:33440913-33440913
45 SYNGAP1 NM_006772.3(SYNGAP1):c.3415C>T (p.Gln1139Ter) SNV Pathogenic 984836 6:33412227-33412227 6:33444450-33444450
46 SYNGAP1 NM_006772.3(SYNGAP1):c.2899C>T (p.Arg967Ter) SNV Pathogenic 436928 rs749188610 6:33411228-33411228 6:33443451-33443451
47 SCN2A NM_001040142.2(SCN2A):c.823C>T (p.Arg275Ter) SNV Pathogenic 207041 rs181327458 2:166166958-166166958 2:165310448-165310448
48 GRIN2B NM_000834.4(GRIN2B):c.706G>T (p.Glu236Ter) SNV Pathogenic 523893 rs1555133077 12:13906555-13906555 12:13753621-13753621
49 GRIN2B NM_000834.4(GRIN2B):c.2459G>A (p.Gly820Glu) SNV Pathogenic 580700 rs797044849 12:13720098-13720098 12:13567164-13567164
50 GRIN2B NM_000834.4(GRIN2B):c.2539C>T (p.Arg847Ter) SNV Pathogenic 245756 rs879253931 12:13720018-13720018 12:13567084-13567084

Expression for Non-Specific Syndromic Intellectual Disability

Search GEO for disease gene expression data for Non-Specific Syndromic Intellectual Disability.

Pathways for Non-Specific Syndromic Intellectual Disability

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

# Super pathways Score Top Affiliating Genes
1 11.46 SYNGAP1 SCN2A GRIN2B DYRK1A

GO Terms for Non-Specific Syndromic Intellectual Disability

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.47 RLIM PUS7 MYT1L MED13 KMT2E FBXW11
2 NuA4 histone acetyltransferase complex GO:0035267 9.16 ACTL6B ACTL6A
3 SWI/SNF complex GO:0016514 8.96 ACTL6B ACTL6A

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

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.87 MYT1L MED13 CSRNP3 CHD2 BPTF ACTL6B
2 positive regulation of transcription, DNA-templated GO:0045893 9.63 MED13 KMT2E FBXW11 DYRK1A ACTL6B ACTL6A
3 chromatin remodeling GO:0006338 9.43 BPTF ACTL6B ACTL6A
4 nervous system development GO:0007399 9.43 SCN2A NTNG1 MYT1L DYRK1A ACTL6B ACTL6A
5 chromatin organization GO:0006325 9.1 KMT2E CHD2 BPTF BCORL1 ACTL6B ACTL6A

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

# Name GO ID Score Top Affiliating Genes
1 transcription coactivator activity GO:0003713 8.92 MED13 DYRK1A ACTL6B ACTL6A

Sources for Non-Specific 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
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