Autosomal Dominant Non-Syndromic Intellectual Disability disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Autosomal Dominant Non-Syndromic Intellectual Disability

MalaCards integrated aliases for Autosomal Dominant Non-Syndromic Intellectual Disability:

Name: Autosomal Dominant Non-Syndromic Intellectual Disability ¹⁹ ⁵⁸ ²⁸ ⁵

Characteristics:

Inheritance:

Autosomal dominant ⁵⁸

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Mental and behavioural disorders

Mental retardation

Mild mental retardation

Moderate mental retardation

Profound mental retardation

Severe mental retardation

Orphanet: ⁵⁸

Rare neurological diseases

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Summaries for Autosomal Dominant Non-Syndromic Intellectual Disability

MalaCards based summary: Autosomal Dominant Non-Syndromic Intellectual Disability is related to intellectual developmental disorder, autosomal dominant 35 and intellectual developmental disorder, autosomal dominant 1. An important gene associated with Autosomal Dominant Non-Syndromic Intellectual Disability is CIC (Capicua Transcriptional Repressor), and among its related pathways/superpathways are CREB Pathway and Golgi-to-ER retrograde transport. Related phenotypes are spasticity and intellectual disability, severe

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Related Diseases for Autosomal Dominant Non-Syndromic Intellectual Disability

Diseases in the Rare Non-Syndromic Intellectual Disability family:

Autosomal Dominant Non-Syndromic Intellectual Disability

Autosomal Recessive Non-Syndromic Intellectual Disability

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

(show all 42)

#	Related Disease	Score	Top Affiliating Genes
1	intellectual developmental disorder, autosomal dominant 35	32.7	DYNC1H1 CHAMP1
2	intellectual developmental disorder, autosomal dominant 1	11.6
3	intellectual developmental disorder, autosomal dominant 22	11.6
4	intellectual developmental disorder, autosomal dominant 3	11.6
5	intellectual developmental disorder, autosomal dominant 4	11.6
6	intellectual developmental disorder, autosomal dominant 5	11.6
7	intellectual developmental disorder, autosomal dominant 7	11.6
8	intellectual developmental disorder, autosomal dominant 2	11.6
9	intellectual developmental disorder, autosomal dominant 10	11.6
10	chromosome 20q11-q12 deletion syndrome	11.6
11	intellectual developmental disorder, autosomal dominant 13	11.6
12	gand syndrome	11.6
13	intellectual developmental disorder, autosomal dominant 21	11.6
14	intellectual developmental disorder, autosomal dominant 23	11.6
15	intellectual developmental disorder, autosomal dominant 29	11.6
16	intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities	11.6
17	intellectual developmental disorder, autosomal dominant 33	11.6
18	intellectual developmental disorder, autosomal dominant 36	11.6
19	intellectual developmental disorder, autosomal dominant 38	11.6
20	intellectual developmental disorder, autosomal dominant 41	11.6
21	intellectual developmental disorder, autosomal dominant 42	11.6
22	intellectual developmental disorder, autosomal dominant 43	11.6
23	intellectual developmental disorder, autosomal dominant 44, with microcephaly	11.6
24	autosomal dominant intellectual developmental disorder 6	11.6
25	autosomal dominant intellectual developmental disorder 8	11.6
26	autosomal dominant intellectual developmental disorder 19	11.6
27	autosomal dominant intellectual developmental disorder 31	11.6
28	autosomal dominant intellectual developmental disorder 40	11.6
29	nescav syndrome	11.4
30	vulto-van silfhout-de vries syndrome	11.4
31	intellectual developmental disorder, autosomal dominant 26	11.4
32	coffin-siris syndrome 9	11.4
33	arboleda-tham syndrome	11.4
34	intellectual developmental disorder, autosomal dominant 34	11.4
35	intellectual developmental disorder, autosomal dominant 39	11.4
36	autosomal dominant intellectual developmental disorder	11.4
37	anterior segment dysgenesis 5	10.2	TRPM3 CAMK2B
38	autism	10.1	GRIN2B DOCK8 DLL1 CAMK2B CAMK2A ASH1L
39	autism spectrum disorder	10.0	GRIN2B DYNC1H1 DLL1 DEAF1 CAMK2B ASH1L
40	congenital nervous system abnormality	10.0	GRIN2B DYNC1H1 CUX1 CHAMP1 CAMK2B
41	childhood absence epilepsy	10.0	GRIN2B CACNG2 CACNA1I
42	microcephaly	10.0	GRIN2B EEF1A2 DYNC1H1 DEAF1 CLTC CAMK2B

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

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Symptoms & Phenotypes for Autosomal Dominant Non-Syndromic Intellectual Disability

Human phenotypes related to Autosomal Dominant Non-Syndromic Intellectual Disability:

³⁰ (show all 40)

#	Description	HPO Frequency	HPO Source Accession
1	spasticity ³⁰	Frequent (33%)	HP:0001257
2	intellectual disability, severe ³⁰	Frequent (33%)	HP:0010864
3	cerebral visual impairment ³⁰	Frequent (33%)	HP:0100704
4	poor speech ³⁰	Frequent (33%)	HP:0002465
5	motor stereotypy ³⁰	Frequent (33%)	HP:0000733
6	sleep disturbance ³⁰	Occasional (7.5%)	HP:0002360
7	scoliosis ³⁰	Occasional (7.5%)	HP:0002650
8	chorea ³⁰	Occasional (7.5%)	HP:0002072
9	self-injurious behavior ³⁰	Occasional (7.5%)	HP:0100716
10	abnormal facial shape ³⁰	Occasional (7.5%)	HP:0001999
11	dyskinesia ³⁰	Occasional (7.5%)	HP:0100660
12	microcephaly ³⁰	Occasional (7.5%)	HP:0000252
13	short stature ³⁰	Occasional (7.5%)	HP:0004322
14	gastroesophageal reflux ³⁰	Occasional (7.5%)	HP:0002020
15	intellectual disability, mild ³⁰	Occasional (7.5%)	HP:0001256
16	intellectual disability, moderate ³⁰	Occasional (7.5%)	HP:0002342
17	severe muscular hypotonia ³⁰	Occasional (7.5%)	HP:0006829
18	leukoencephalopathy ³⁰	Occasional (7.5%)	HP:0002352
19	bilateral tonic-clonic seizure ³⁰	Occasional (7.5%)	HP:0002069
20	status epilepticus ³⁰	Occasional (7.5%)	HP:0002133
21	intellectual disability, profound ³⁰	Occasional (7.5%)	HP:0002187
22	cerebral atrophy ³⁰	Occasional (7.5%)	HP:0002059
23	autistic behavior ³⁰	Occasional (7.5%)	HP:0000729
24	gastrostomy tube feeding in infancy ³⁰	Occasional (7.5%)	HP:0011471
25	hypoplasia of the corpus callosum ³⁰	Occasional (7.5%)	HP:0002079
26	oral-pharyngeal dysphagia ³⁰	Occasional (7.5%)	HP:0200136
27	focal motor seizure ³⁰	Occasional (7.5%)	HP:0011153
28	focal impaired awareness seizure ³⁰	Occasional (7.5%)	HP:0002384
29	abnormal hippocampus morphology ³⁰	Occasional (7.5%)	HP:0025100
30	widened subarachnoid space ³⁰	Occasional (7.5%)	HP:0012704
31	epileptic spasm ³⁰	Occasional (7.5%)	HP:0011097
32	oculogyric crisis ³⁰	Occasional (7.5%)	HP:0010553
33	atonic seizure ³⁰	Occasional (7.5%)	HP:0010819
34	typical absence seizure ³⁰	Occasional (7.5%)	HP:0011147
35	eyelid myoclonus ³⁰	Occasional (7.5%)	HP:0025097
36	generalized tonic seizure ³⁰	Occasional (7.5%)	HP:0010818
37	lateral ventricle dilatation ³⁰	Occasional (7.5%)	HP:0006956
38	generalized myoclonic seizure ³⁰	Occasional (7.5%)	HP:0002123
39	focal emotional seizure with laughing ³⁰	Occasional (7.5%)	HP:0010821
40	bilateral generalized polymicrogyria ³⁰	Occasional (7.5%)	HP:0032410

GenomeRNAi Phenotypes related to Autosomal Dominant Non-Syndromic Intellectual Disability according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	10.2	ARF3 ASH1L BRSK2 CACNA1I CACNG2 CAMK2A
2	no effect	GR00402-S-2	10.2	ASH1L BRSK2 CACNA1I CACNG2 CAMK2A CAMK2B

MGI Mouse Phenotypes related to Autosomal Dominant Non-Syndromic Intellectual Disability:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	10.13	BRSK2 CACNA1I CACNG2 CAMK2A CAMK2B CIC
2	growth/size/body region	MP:0005378	9.97	ASH1L CACNA1I CACNG2 CAMK2A CAMK2B CIC
3	behavior/neurological	MP:0005386	9.8	ASH1L BRSK2 CACNG2 CAMK2A CAMK2B CIC
4	mortality/aging	MP:0010768	9.47	ASH1L BRSK2 CACNG2 CAMK2A CAMK2B CIC

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Drugs & Therapeutics for Autosomal Dominant Non-Syndromic Intellectual Disability

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

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Genetic Tests for Autosomal Dominant Non-Syndromic Intellectual Disability

Genetic tests related to Autosomal Dominant Non-Syndromic Intellectual Disability:

#	Genetic test	Affiliating Genes
1	Autosomal Dominant Non-Syndromic Intellectual Disability ²⁸

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Anatomical Context for Autosomal Dominant Non-Syndromic Intellectual Disability

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Publications for Autosomal Dominant Non-Syndromic Intellectual Disability

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Genes for Autosomal Dominant Non-Syndromic Intellectual Disability

Genes related to Autosomal Dominant Non-Syndromic Intellectual Disability (46 elite genes):

(show all 47)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CIC	Capicua Transcriptional Repressor	Protein Coding	750	Pathogenic ⁵ Causative germline mutation (loss of function) ⁵⁸	28288114
2	CLTC	Clathrin Heavy Chain	Protein Coding	750	Pathogenic ⁵ Causative germline mutation ⁵⁸	29100083
3	GRIN2B	Glutamate Ionotropic Receptor NMDA Type Subunit 2B	Protein Coding	750	Pathogenic ⁵ Causative germline mutation ⁵⁸	20890276
4	TRPM3	Transient Receptor Potential Cation Channel Subfamily M Member 3	Protein Coding	750	Pathogenic ⁵ Causative germline mutation ⁵⁸	31278393
5	CSNK2B	Casein Kinase 2 Beta	Protein Coding	375	Causative germline mutation (loss of function) ⁵⁸ Likely pathogenic ⁵	28585349
6	ARF3	ADP Ribosylation Factor 3	Protein Coding	350	Causative germline mutation ⁵⁸	34346499
7	ASH1L	ASH1 Like Histone Lysine Methyltransferase	Protein Coding	350	Causative germline mutation ⁵⁸	23033978 28394464
8	BRSK2	BR Serine/Threonine Kinase 2	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸	30879638
9	CACNA1I	Calcium Voltage-Gated Channel Subunit Alpha1 I	Protein Coding	350	Causative germline mutation ⁵⁸	33704440
10	CACNG2	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 2	Protein Coding	350	Causative germline mutation ⁵⁸	21376300
11	CAMK2A	Calcium/Calmodulin Dependent Protein Kinase II Alpha	Protein Coding	350	Causative germline mutation ⁵⁸	29100089
12	CAMK2B	Calcium/Calmodulin Dependent Protein Kinase II Beta	Protein Coding	350	Causative germline mutation ⁵⁸	29100089
13	CDH15	Cadherin 15	Protein Coding	350	Causative germline mutation ⁵⁸	19012874
14	CHAMP1	Chromosome Alignment Maintaining Phosphoprotein 1	Protein Coding	350	Causative germline mutation ⁵⁸	26340335
15	CUX1	Cut Like Homeobox 1	Protein Coding	350	Causative germline mutation ⁵⁸	30014507
16	DEAF1	DEAF1 Transcription Factor	Protein Coding	350	Causative germline mutation ⁵⁸	24726472
17	DLL1	Delta Like Canonical Notch Ligand 1	Protein Coding	350	Causative germline mutation ⁵⁸	31353024
18	DOCK8	Dedicator Of Cytokinesis 8	Protein Coding	350	Causative germline mutation ⁵⁸	18060736
19	DYNC1H1	Dynein Cytoplasmic 1 Heavy Chain 1	Protein Coding	350	Causative germline mutation ⁵⁸	22368300
20	EEF1A2	Eukaryotic Translation Elongation Factor 1 Alpha 2	Protein Coding	350	Causative germline mutation ⁵⁸	24697219
21	EPB41L1	Erythrocyte Membrane Protein Band 4.1 Like 1	Protein Coding	350	Causative germline mutation ⁵⁸	21376300
22	ERBB4	Erb-B2 Receptor Tyrosine Kinase 4	Protein Coding	350	Causative germline mutation ⁵⁸	33603162
23	GRIA1	Glutamate Ionotropic Receptor AMPA Type Subunit 1	Protein Coding	350	Causative germline mutation ⁵⁸	28628100
24	GRIN1	Glutamate Ionotropic Receptor NMDA Type Subunit 1	Protein Coding	350	Causative germline mutation ⁵⁸	21376300
25	HIVEP2	HIVEP Zinc Finger 2	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸	26153216 27003583
26	ITSN1	Intersectin 1	Protein Coding	350	Causative germline mutation ⁵⁸	34707297
27	KCNQ2	Potassium Voltage-Gated Channel Subfamily Q Member 2	Protein Coding	350	Causative germline mutation ⁵⁸	33754465
28	KCNQ5	Potassium Voltage-Gated Channel Subfamily Q Member 5	Protein Coding	350	Causative germline mutation ⁵⁸	28669405
29	KIF1A	Kinesin Family Member 1A	Protein Coding	350	Causative germline mutation ⁵⁸	21376300
30	KIRREL3	Kirre Like Nephrin Family Adhesion Molecule 3	Protein Coding	350	Causative germline mutation ⁵⁸	19012874
31	MBD5	Methyl-CpG Binding Domain Protein 5	Protein Coding	350	Causative germline mutation ⁵⁸	23422940
32	MED12L	Mediator Complex Subunit 12L	Protein Coding	350	Causative germline mutation ⁵⁸	31155615
33	NBEA	Neurobeachin	Protein Coding	350	Causative germline mutation ⁵⁸	30269351
34	PPP3CA	Protein Phosphatase 3 Catalytic Subunit Alpha	Protein Coding	350	Causative germline mutation ⁵⁸	28942967
35	PRICKLE2	Prickle Planar Cell Polarity Protein 2	Protein Coding	350	Causative germline mutation ⁵⁸	34092786
36	RAB11A	RAB11A, Member RAS Oncogene Family	Protein Coding	350	Causative germline mutation ⁵⁸	29100083
37	SCN8A	Sodium Voltage-Gated Channel Alpha Subunit 8	Protein Coding	350	Causative germline mutation ⁵⁸	16236810
38	SET	SET Nuclear Proto-Oncogene	Protein Coding	350	Causative germline mutation ⁵⁸	29688601
39	SETD1B	SET Domain Containing 1B, Histone Lysine Methyltransferase	Protein Coding	350	Causative germline mutation ⁵⁸	32546566
40	SLC6A1	Solute Carrier Family 6 Member 1	Protein Coding	350	Causative germline mutation ⁵⁸	34006619
41	SYNGAP1	Synaptic Ras GTPase Activating Protein 1	Protein Coding	350	Causative germline mutation ⁵⁸	23161826
42	TAOK1	TAO Kinase 1	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸	31230721
43	TCF4	Transcription Factor 4	Protein Coding	350	Causative germline mutation ⁵⁸	22670824
44	ZMYND11	Zinc Finger MYND-Type Containing 11	Protein Coding	350	Causative germline mutation ⁵⁸	25217958
45	KDM5B	Lysine Demethylase 5B	Protein Coding	25	Candidate gene tested ⁵⁸	24307393
46	MYT1L	Myelin Transcription Factor 1 Like	Protein Coding	25	Candidate gene tested ⁵⁸	21990140
47	JARID2	Jumonji And AT-Rich Interaction Domain Containing 2	Protein Coding	25	Likely pathogenic ⁵

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Variations for Autosomal Dominant Non-Syndromic Intellectual Disability

ClinVar genetic disease variations for Autosomal Dominant Non-Syndromic Intellectual Disability:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	CIC	NM_001386298.1(CIC):c.3059dup (p.His1021fs)	DUP	Pathogenic	1708217		GRCh37: 19:42791267-42791268 GRCh38: 19:42287115-42287116
2	TRPM3	NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met)	SNV	Pathogenic	585073	rs1564493599	GRCh37: 9:73213379-73213379 GRCh38: 9:70598463-70598463
3	GRIN2B	NM_000834.5(GRIN2B):c.1177C>T (p.Arg393Ter)	SNV	Pathogenic	984851	rs1555112396	GRCh37: 12:13769540-13769540 GRCh38: 12:13616606-13616606
4	CLTC	NM_004859.4(CLTC):c.2646_2649del (p.Ile882_Tyr883insTer)	DEL	Pathogenic	1283912		GRCh37: 17:57754399-57754402 GRCh38: 17:59677038-59677041
5	JARID2	NM_004973.4(JARID2):c.12_13del (p.Arg5fs)	DEL	Likely Pathogenic	1339774		GRCh37: 6:15246781-15246782 GRCh38: 6:15246550-15246551
6	CSNK2B	NM_001320.7(CSNK2B):c.72+2T>G	SNV	Likely Pathogenic	1526270		GRCh37: 6:31634682-31634682 GRCh38: 6:31666905-31666905

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Expression for Autosomal Dominant Non-Syndromic Intellectual Disability

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

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Pathways for Autosomal Dominant Non-Syndromic Intellectual Disability

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

(show all 16)

#	Super pathways	Score	Top Affiliating Genes
1	CREB Pathway ⁶⁴ Show member pathways Activation of PKC through GPCR ⁶⁴ Intracellular Calcium Signaling ⁶⁴ IP3 Pathway ⁶⁴	13.07	TRPM3 GRIN2B CAMK2B CAMK2A CACNG2 CACNA1I
2	Golgi-to-ER retrograde transport ⁶⁶ Show member pathways COPI-dependent Golgi-to-ER retrograde traffic ⁶⁶ Factors involved in megakaryocyte development and platelet production ⁶⁶ Intra-Golgi and retrograde Golgi-to-ER traffic ⁶⁶ Kinesins ⁶⁶ MHC class II antigen presentation ⁶⁶	12.85	DYNC1H1 DOCK8 CUX1 CLTC ARF3
3	Sweet Taste Signaling ⁶⁴ Show member pathways Bitter Taste Signaling ⁶⁴ Cellular Effects of Sildenafil ⁶⁴ Melatonin Signaling ⁶⁴ Sperm Motility ⁶⁴	12.83	CAMK2B CAMK2A CACNG2 CACNA1I BRSK2
4	Neuropathic Pain-Signaling in Dorsal Horn Neurons ⁶⁴ Show member pathways Aldosterone Signaling in Epithelial Cells ⁶⁴ Cholera Infection ⁶⁴	12.43	GRIN2B CAMK2B CAMK2A ARF3
5	Transcriptional Regulation by MECP2 ⁶⁶ Show member pathways Competing endogenous RNAs (ceRNAs) regulate PTEN translation ⁶⁶ Disorders of Developmental Biology ⁶⁶ Disorders of Nervous System Development ⁶⁶ Loss of function of MECP2 in Rett syndrome ⁶⁶ Loss of MECP2 binding ability to 5hmC-DNA ⁶⁶ Loss of MECP2 binding ability to 5mC-DNA ⁶⁶ Loss of MECP2 binding ability to the NCoR/SMRT complex ⁶⁶ Loss of phosphorylation of MECP2 at T308 ⁶⁶ MECP2 regulates neuronal receptors and channels ⁶⁶ MECP2 regulates transcription factors ⁶⁶ MECP2 regulates transcription of genes involved in GABA signaling ⁶⁶ MECP2 regulates transcription of neuronal ligands ⁶⁶ Pervasive developmental disorders ⁶⁶ Post-transcriptional silencing by small RNAs ⁶⁶ PTEN Loss of Function in Cancer ⁶⁶ Regulation of MECP2 expression and activity ⁶⁶ Regulation of PTEN mRNA translation ⁶⁶	12.02	GRIN2B DLL1 CAMK2B CAMK2A
6	Development Ligand-independent activation of ESR1 and ESR2 ²² Show member pathways Transcription CREB pathway ²² Transcription PPAR Pathway ²²	11.95	CAMK2B CAMK2A CACNG2 CACNA1I
7	Neuroscience ³	11.89	GRIN2B CAMK2B CAMK2A CACNG2 BRSK2
8	Presenilin-Mediated Signaling ⁶⁴	11.85	CDH15 CACNG2 CACNA1I
9	Neuroinflammation and glutamatergic signaling ⁷⁴	11.82	GRIN2B CAMK2B CAMK2A
10	Notch Signaling Pathways ⁶⁵	11.65	DLL1 CSNK2B CLTC
11	Unblocking of NMDA receptors, glutamate binding and activation ⁶⁶ Show member pathways Long-term potentiation ⁶⁶ Negative regulation of NMDA receptor-mediated neuronal transmission ⁶⁶ Synaptic adhesion-like molecules ⁶⁶	11.58	CAMK2A CAMK2B GRIN2B
12	Trafficking of AMPA receptors ⁶⁶ Show member pathways Activation of AMPA receptors ⁶⁶ Glutamate binding, activation of AMPA receptors and synaptic plasticity ⁶⁶ Trafficking of GluR2-containing AMPA receptors ⁶⁶	11.53	CAMK2B CAMK2A CACNG2
13	Signal transduction_Erk Interactions- Inhibition of Erk ²²	11.45	GRIN2B CAMK2B CAMK2A
14	CREB1 phosphorylation through NMDA receptor-mediated activation of RAS signaling ⁶⁶ Show member pathways Ras activation upon Ca2+ influx through NMDA receptor ⁶⁶ RSK activation ⁶⁶	11.19	GRIN2B CAMK2B CAMK2A
15	Fragile X syndrome ⁷⁴ Show member pathways Pilocytic astrocytoma ⁷⁴	11.02	GRIN2B CLTC CAMK2B CAMK2A
16	NO/cGMP/PKG mediated neuroprotection ⁷⁴	10.98	GRIN2B CAMK2B CAMK2A

Sources

GO Terms for Autosomal Dominant Non-Syndromic Intellectual Disability

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

#	Name	GO ID	Score	Top Affiliating Genes
1	endocytic vesicle membrane	GO:0030666	9.63	CAMK2B CAMK2A CACNG2
2	organelle	GO:0043226	8.96	CAMK2B CAMK2A
3	calcium- and calmodulin-dependent protein kinase complex	GO:0005954	8.92	CAMK2B CAMK2A

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

#	Name	GO ID	Score	Top Affiliating Genes
1	calcium ion transport	GO:0006816	9.02	TRPM3 CAMK2A CACNG2 CACNA1I

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

#	Name	GO ID	Score	Top Affiliating Genes
1	calcium channel activity	GO:0005262	8.92	TRPM3 CACNG2 CACNA1I

Sources

Sources for Autosomal Dominant Non-Syndromic Intellectual Disability

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: ATS203 MIFTS: 34	Autosomal Dominant Non-Syndromic Intellectual Disability Categories: Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Related diseases Symptoms & Phenotypes Expand all tables

Autosomal Dominant Non-Syndromic Intellectual Disability

Aliases & Classifications for Autosomal Dominant Non-Syndromic Intellectual Disability

MalaCards integrated aliases for Autosomal Dominant Non-Syndromic Intellectual Disability:

Characteristics:

Inheritance:

Classifications:

External Ids:

Summaries for Autosomal Dominant Non-Syndromic Intellectual Disability

Related Diseases for Autosomal Dominant Non-Syndromic Intellectual Disability

Diseases in the Rare Non-Syndromic Intellectual Disability family:

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

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

Symptoms & Phenotypes for Autosomal Dominant Non-Syndromic Intellectual Disability

Human phenotypes related to Autosomal Dominant Non-Syndromic Intellectual Disability:

GenomeRNAi Phenotypes related to Autosomal Dominant Non-Syndromic Intellectual Disability according to GeneCards Suite gene sharing:

MGI Mouse Phenotypes related to Autosomal Dominant Non-Syndromic Intellectual Disability:

Drugs & Therapeutics for Autosomal Dominant Non-Syndromic Intellectual Disability

Genetic Tests for Autosomal Dominant Non-Syndromic Intellectual Disability

Genetic tests related to Autosomal Dominant Non-Syndromic Intellectual Disability:

Anatomical Context for Autosomal Dominant Non-Syndromic Intellectual Disability

Publications for Autosomal Dominant Non-Syndromic Intellectual Disability

Genes for Autosomal Dominant Non-Syndromic Intellectual Disability

Genes related to Autosomal Dominant Non-Syndromic Intellectual Disability (46 elite genes):

Variations for Autosomal Dominant Non-Syndromic Intellectual Disability

ClinVar genetic disease variations for Autosomal Dominant Non-Syndromic Intellectual Disability:

Expression for Autosomal Dominant Non-Syndromic Intellectual Disability

Pathways for Autosomal Dominant Non-Syndromic Intellectual Disability

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

GO Terms for Autosomal Dominant Non-Syndromic Intellectual Disability

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

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

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

Sources for Autosomal Dominant Non-Syndromic Intellectual Disability