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

MCID: ATS203 MIFTS: 35	Autosomal Dominant Non-Syndromic Intellectual Disability Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Related diseases Publications Pathways Expand all tables

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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 ¹² ⁵³ ⁵⁹ ¹⁵

Autosomal Dominant Mental Retardation ¹² ³⁷

Autosomal Dominant Non-Syndromic Mental Retardation ¹²

Mental Retardation, Autosomal Dominant ⁶

Characteristics:

Orphanet epidemiological data:

⁵⁹

autosomal dominant non-syndromic intellectual disability
Inheritance: Autosomal dominant;

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare neurological diseases

External Ids:

Disease Ontology ¹² DOID:0060307

Orphanet ⁵⁹ ORPHA178469

KEGG ³⁷ H00773

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Summaries for Autosomal Dominant Non-Syndromic Intellectual Disability

Disease Ontology : ¹² A non-syndromic intellectual disability characterized by an autosomal dominant inheritance pattern.

MalaCards based summary : Autosomal Dominant Non-Syndromic Intellectual Disability, also known as autosomal dominant mental retardation, is related to autosomal dominant non-syndromic intellectual disability 1 and autosomal dominant non-syndromic intellectual disability 2. An important gene associated with Autosomal Dominant Non-Syndromic Intellectual Disability is SCN2A (Sodium Voltage-Gated Channel Alpha Subunit 2), and among its related pathways/superpathways are Dopaminergic synapse and Adrenergic signaling in cardiomyocytes. Related phenotypes are Decreased viability and Decreased viability

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Related Diseases for Autosomal Dominant Non-Syndromic Intellectual Disability

Diseases in the Non-Syndromic Intellectual Disability family:

Autosomal Dominant Non-Syndromic Intellectual Disability	Autosomal Recessive Non-Syndromic Intellectual Disability
Autosomal Dominant Non-Syndromic Intellectual Disability 1	Autosomal Dominant Non-Syndromic Intellectual Disability 2
Autosomal Dominant Non-Syndromic Intellectual Disability 3	Autosomal Dominant Non-Syndromic Intellectual Disability 4
Autosomal Dominant Non-Syndromic Intellectual Disability 5	Autosomal Dominant Non-Syndromic Intellectual Disability 6
Autosomal Dominant Non-Syndromic Intellectual Disability 8	Autosomal Dominant Non-Syndromic Intellectual Disability 9
Syngap1-Related Non-Syndromic Intellectual Disability

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

(show top 50) (show all 76)

#	Related Disease	Score
1	autosomal dominant non-syndromic intellectual disability 1	12.6
2	autosomal dominant non-syndromic intellectual disability 2	12.6
3	autosomal dominant non-syndromic intellectual disability 3	12.6
4	autosomal dominant non-syndromic intellectual disability 5	12.6
5	autosomal dominant non-syndromic intellectual disability 6	12.6
6	autosomal dominant non-syndromic intellectual disability 9	12.6
7	autosomal dominant non-syndromic intellectual disability 4	12.6
8	autosomal dominant non-syndromic intellectual disability 8	12.6
9	mental retardation, autosomal dominant 6, with or without seizures	12.5
10	mental retardation, autosomal dominant 55, with seizures	12.5
11	mental retardation, autosomal dominant 57	12.4
12	mental retardation, autosomal dominant 58	12.2
13	autosomal dominant mental retardation 55	12.2
14	mental retardation, autosomal dominant 7	12.0
15	mental retardation, autosomal dominant 10	12.0
16	mental retardation, autosomal dominant 11	12.0
17	mental retardation, autosomal dominant 13	12.0
18	mental retardation, autosomal dominant 21	12.0
19	mental retardation, autosomal dominant 35	12.0
20	mental retardation, autosomal dominant 38	12.0
21	mental retardation, autosomal dominant 41	12.0
22	mental retardation, autosomal dominant 43	12.0
23	mental retardation, autosomal dominant 22	11.9
24	mental retardation, autosomal dominant 18	11.9
25	mental retardation, autosomal dominant 19	11.9
26	mental retardation, autosomal dominant 23	11.9
27	mental retardation, autosomal dominant 24	11.9
28	mental retardation, autosomal dominant 26	11.9
29	mental retardation, autosomal dominant 27	11.9
30	mental retardation, autosomal dominant 29	11.9
31	mental retardation, autosomal dominant 30	11.9
32	mental retardation, autosomal dominant 31	11.9
33	mental retardation, autosomal dominant 32	11.9
34	mental retardation, autosomal dominant 33	11.9
35	mental retardation, autosomal dominant 34	11.9
36	mental retardation, autosomal dominant 36	11.9
37	mental retardation, autosomal dominant 39	11.9
38	mental retardation, autosomal dominant 40	11.9
39	mental retardation, autosomal dominant 42	11.9
40	mental retardation, autosomal dominant 44	11.9
41	neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	11.5
42	adnp syndrome	11.3
43	coffin-siris syndrome 1	11.2
44	mental retardation, autosomal dominant 20	11.2
45	schuurs-hoeijmakers syndrome	11.2
46	xia-gibbs syndrome	11.2
47	helsmoortel-van der aa syndrome	11.2
48	white-sutton syndrome	11.2
49	microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	11.1
50	coffin-siris syndrome 2	11.1

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

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

²⁶ (show all 38)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00107-A-1	10.27	CAMK2B
2	Decreased viability	GR00221-A-1	10.27	CAMK2A CAMK2B
3	Decreased viability	GR00221-A-4	10.27	CAMK2A
4	Decreased viability	GR00301-A	10.27	CAMK2B
5	Decreased viability	GR00381-A-1	10.27	DOCK8
6	Decreased viability	GR00402-S-2	10.27	CACNG2 CAMK2A CAMK2B CDH15 CSNK2B DEAF1
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-105	10.25	ZNF462
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-108	10.25	EPB41L1
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-118	10.25	CSNK2B
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-12	10.25	CSNK2B
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-121	10.25	GRIN2B
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-123	10.25	SCN2A
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-130	10.25	EPB41L1
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-133	10.25	SCN2A
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-143	10.25	EPB41L1
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-146	10.25	EPB41L1
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-152	10.25	GRIN2B
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-16	10.25	SCN2A
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-166	10.25	EPB41L1
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-170	10.25	CSNK2B
21	Increased shRNA abundance (Z-score > 2)	GR00366-A-176	10.25	CSNK2B GRIN2B
22	Increased shRNA abundance (Z-score > 2)	GR00366-A-186	10.25	GRIN2B
23	Increased shRNA abundance (Z-score > 2)	GR00366-A-188	10.25	SCN2A
24	Increased shRNA abundance (Z-score > 2)	GR00366-A-190	10.25	CSNK2B GRIN2B
25	Increased shRNA abundance (Z-score > 2)	GR00366-A-196	10.25	EPB41L1 ZNF462
26	Increased shRNA abundance (Z-score > 2)	GR00366-A-199	10.25	CSNK2B
27	Increased shRNA abundance (Z-score > 2)	GR00366-A-214	10.25	ZNF462
28	Increased shRNA abundance (Z-score > 2)	GR00366-A-4	10.25	CSNK2B
29	Increased shRNA abundance (Z-score > 2)	GR00366-A-42	10.25	ZNF462
30	Increased shRNA abundance (Z-score > 2)	GR00366-A-46	10.25	SCN2A
31	Increased shRNA abundance (Z-score > 2)	GR00366-A-50	10.25	ZNF462
32	Increased shRNA abundance (Z-score > 2)	GR00366-A-51	10.25	ZNF462
33	Increased shRNA abundance (Z-score > 2)	GR00366-A-6	10.25	CSNK2B
34	Increased shRNA abundance (Z-score > 2)	GR00366-A-63	10.25	SCN2A
35	Increased shRNA abundance (Z-score > 2)	GR00366-A-74	10.25	GRIN2B SCN2A
36	Increased shRNA abundance (Z-score > 2)	GR00366-A-85	10.25	CSNK2B EPB41L1 GRIN2B SCN2A ZNF462
37	Increased shRNA abundance (Z-score > 2)	GR00366-A-9	10.25	SCN2A
38	no effect	GR00402-S-1	9.62	CACNG2 CAMK2A CAMK2B CDH15 CSNK2B DEAF1

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

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	10.19	CACNG2 CAMK2A CAMK2B CSNK2B DEAF1 DYNC1H1
2	growth/size/body region	MP:0005378	10.03	CACNG2 CAMK2A CAMK2B CSNK2B DYNC1H1 EEF1A2
3	mortality/aging	MP:0010768	9.83	CACNG2 CAMK2A CSNK2B DEAF1 DYNC1H1 EEF1A2
4	nervous system	MP:0003631	9.6	CACNG2 CAMK2A CAMK2B CSNK2B DEAF1 DOCK8

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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

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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

Articles related to Autosomal Dominant Non-Syndromic Intellectual Disability:

#	Title	Authors	Year
1	Expanding the phenotype in autosomal dominant mental retardation-24: a novel variation in DEAF1 gene. ( 30451703 )	Sharma P...Mandal K	2018
2	[Autosomal dominant mental retardation]. ( 16506130 )		2006

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Genes for Autosomal Dominant Non-Syndromic Intellectual Disability

Genes related to Autosomal Dominant Non-Syndromic Intellectual Disability (30 elite genes):

(show top 50) (show all 71)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	SCN2A	Sodium Voltage-Gated Channel Alpha Subunit 2	Protein Coding	404.28	Pathogenic ⁶ DISEASES inferred ¹⁵
2	ZNF462	Zinc Finger Protein 462	Protein Coding	400	Pathogenic ⁶
3	DYNC1H1	Dynein Cytoplasmic 1 Heavy Chain 1	Protein Coding	354.24	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵
4	SYNGAP1	Synaptic Ras GTPase Activating Protein 1	Protein Coding	353.85	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵
5	DOCK8	Dedicator Of Cytokinesis 8	Protein Coding	353.77	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵
6	STXBP1	Syntaxin Binding Protein 1	Protein Coding	353.69	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵
7	CAMK2B	Calcium/Calmodulin Dependent Protein Kinase II Beta	Protein Coding	350	Causative germline mutation ⁵⁹
8	CAMK2A	Calcium/Calmodulin Dependent Protein Kinase II Alpha	Protein Coding	350	Causative germline mutation ⁵⁹
9	EEF1A2	Eukaryotic Translation Elongation Factor 1 Alpha 2	Protein Coding	350	Causative germline mutation ⁵⁹
10	DEAF1	DEAF1 Transcription Factor	Protein Coding	350	Causative germline mutation ⁵⁹
11	EPB41L1	Erythrocyte Membrane Protein Band 4.1 Like 1	Protein Coding	350	Causative germline mutation ⁵⁹
12	CACNG2	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 2	Protein Coding	350	Causative germline mutation ⁵⁹
13	GRIN1	Glutamate Ionotropic Receptor NMDA Type Subunit 1	Protein Coding	350	Causative germline mutation ⁵⁹
14	KIF1A	Kinesin Family Member 1A	Protein Coding	350	Causative germline mutation ⁵⁹
15	CDH15	Cadherin 15	Protein Coding	350	Causative germline mutation ⁵⁹
16	GRIN2B	Glutamate Ionotropic Receptor NMDA Type Subunit 2B	Protein Coding	350	Causative germline mutation ⁵⁹
17	MBD5	Methyl-CpG Binding Domain Protein 5	Protein Coding	350	Causative germline mutation ⁵⁹
18	KIRREL3	Kirre Like Nephrin Family Adhesion Molecule 3	Protein Coding	350	Causative germline mutation ⁵⁹
19	TCF4	Transcription Factor 4	Protein Coding	350	Causative germline mutation ⁵⁹
20	CSNK2B	Casein Kinase 2 Beta	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
21	CIC	Capicua Transcriptional Repressor	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
22	ZMYND11	Zinc Finger MYND-Type Containing 11	Protein Coding	350	Causative germline mutation ⁵⁹
23	KCNQ5	Potassium Voltage-Gated Channel Subfamily Q Member 5	Protein Coding	350	Causative germline mutation ⁵⁹
24	PPP3CA	Protein Phosphatase 3 Catalytic Subunit Alpha	Protein Coding	350	Causative germline mutation ⁵⁹
25	RAB11A	RAB11A, Member RAS Oncogene Family	Protein Coding	350	Causative germline mutation ⁵⁹
26	SET	SET Nuclear Proto-Oncogene	Protein Coding	350	Causative germline mutation ⁵⁹
27	HIVEP2	Human Immunodeficiency Virus Type I Enhancer Binding Protein 2	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
28	CHAMP1	Chromosome Alignment Maintaining Phosphoprotein 1	Protein Coding	350	Causative germline mutation ⁵⁹
29	CLTC	Clathrin Heavy Chain	Protein Coding	350	Causative germline mutation ⁵⁹
30	KDM5B	Lysine Demethylase 5B	Protein Coding	25	Candidate gene tested ⁵⁹
31	ARID1B	AT-Rich Interaction Domain 1B	Protein Coding	18.23	DISEASES inferred ¹⁵
32	SMARCE1	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily E, Member 1	Protein Coding	17.58	DISEASES inferred ¹⁵
33	BANF1	Barrier To Autointegration Factor 1	Protein Coding	17.12	DISEASES inferred ¹⁵
34	ADNP	Activity Dependent Neuroprotector Homeobox	Protein Coding	17.09	DISEASES inferred ¹⁵
35	SMARCA4	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 4	Protein Coding	17.04	DISEASES inferred ¹⁵
36	CHSY1	Chondroitin Sulfate Synthase 1	Protein Coding	16.74	DISEASES inferred ¹⁵
37	SMARCA2	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 2	Protein Coding	16.65	DISEASES inferred ¹⁵
38	PHF6	PHD Finger Protein 6	Protein Coding	16.54	DISEASES inferred ¹⁵
39	SMARCB1	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1	Protein Coding	16.31	DISEASES inferred ¹⁵
40	AHDC1	AT-Hook DNA Binding Motif Containing 1	Protein Coding	16.17	DISEASES inferred ¹⁵
41	ARID1A	AT-Rich Interaction Domain 1A	Protein Coding	16.06	DISEASES inferred ¹⁵
42	ARID2	AT-Rich Interaction Domain 2	Protein Coding	15.87	DISEASES inferred ¹⁵
43	CHPF2	Chondroitin Polymerizing Factor 2	Protein Coding	15.84	DISEASES inferred ¹⁵
44	ARL6IP6	ADP Ribosylation Factor Like GTPase 6 Interacting Protein 6	Protein Coding	15.74	DISEASES inferred ¹⁵
45	CHSY3	Chondroitin Sulfate Synthase 3	Protein Coding	6.89	DISEASES inferred ¹⁵
46	CAPNS2	Calpain Small Subunit 2	Protein Coding	6.86	DISEASES inferred ¹⁵
47	CHPF	Chondroitin Polymerizing Factor	Protein Coding	6.69	DISEASES inferred ¹⁵
48	STXBP6	Syntaxin Binding Protein 6	Protein Coding	6.06	DISEASES inferred ¹⁵
49	RBM19	RNA Binding Motif Protein 19	Protein Coding	6	DISEASES inferred ¹⁵
50	ENSG00000260272		Protein Coding	5.81	DISEASES inferred ¹⁵

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Variations for Autosomal Dominant Non-Syndromic Intellectual Disability

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

⁶ (show all 14)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	SMARCA2	NM_003070.4(SMARCA2): c.2329C> G (p.Leu777Val)	single nucleotide variant	Uncertain significance	rs771591197	GRCh38	Chromosome 9, 2081976: 2081976
2	KAT6B	NM_012330.3(KAT6B): c.3544G> A (p.Glu1182Lys)	single nucleotide variant	Likely benign	rs1057519623	GRCh38	Chromosome 10, 75025129: 75025129
3	KAT6B	NM_012330.3(KAT6B): c.3544G> A (p.Glu1182Lys)	single nucleotide variant	Likely benign	rs1057519623	GRCh37	Chromosome 10, 76784887: 76784887
4	NAA10	NM_003491.3(NAA10): c.583C> T (p.Arg195Cys)	single nucleotide variant	Likely benign	rs1057519620	GRCh38	Chromosome X, 153930112: 153930112
5	NAA10	NM_003491.3(NAA10): c.583C> T (p.Arg195Cys)	single nucleotide variant	Likely benign	rs1057519620	GRCh37	Chromosome X, 153195565: 153195565
6	SMARCA2	NM_003070.4(SMARCA2): c.2329C> G (p.Leu777Val)	single nucleotide variant	Uncertain significance	rs771591197	GRCh37	Chromosome 9, 2081976: 2081976
7	SCN2A	NM_021007.2(SCN2A): c.3697G> T (p.Glu1233Ter)	single nucleotide variant	Pathogenic	rs1057519617	GRCh37	Chromosome 2, 166226657: 166226657
8	SCN2A	NM_021007.2(SCN2A): c.3697G> T (p.Glu1233Ter)	single nucleotide variant	Pathogenic	rs1057519617	GRCh38	Chromosome 2, 165370147: 165370147
9	ZNF462	NM_021224.5(ZNF462): c.3787C> T (p.Arg1263Ter)	single nucleotide variant	Pathogenic	rs1060499549	GRCh37	Chromosome 9, 109689980: 109689980
10	ZNF462	NM_021224.5(ZNF462): c.3787C> T (p.Arg1263Ter)	single nucleotide variant	Pathogenic	rs1060499549	GRCh38	Chromosome 9, 106927699: 106927699
11	ZNF462	NM_021224.5(ZNF462): c.4263delA (p.Glu1422Serfs)	deletion	Pathogenic	rs1060499551	GRCh37	Chromosome 9, 109690456: 109690456
12	ZNF462	NM_021224.5(ZNF462): c.4263delA (p.Glu1422Serfs)	deletion	Pathogenic	rs1060499551	GRCh38	Chromosome 9, 106928175: 106928175
13	ZNF462	NM_021224.5(ZNF462): c.2979_2980delTGinsA (p.Val994Trpfs)	indel	Pathogenic	rs1060499550	GRCh37	Chromosome 9, 109689172: 109689173
14	ZNF462	NM_021224.5(ZNF462): c.2979_2980delTGinsA (p.Val994Trpfs)	indel	Pathogenic	rs1060499550	GRCh38	Chromosome 9, 106926891: 106926892

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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 KEGG:

³⁷

#	Name	Kegg Source Accession
1	Dopaminergic synapse	hsa04728
2	Adrenergic signaling in cardiomyocytes	hsa04261
3	cAMP signaling pathway	hsa04024

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	Developmental Biology ⁶⁶ Show member pathways Axon guidance ⁶⁶	12.87	CACNG2 CAMK2A CAMK2B CDH15 CSNK2B GRIN1
2	Transmission across Chemical Synapses ⁶⁶ Show member pathways Neuronal System ⁶⁶ Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell ⁶⁶	12.77	CACNG2 CAMK2A CAMK2B EPB41L1 GRIN1 GRIN2B
3	Neuropathic Pain-Signaling in Dorsal Horn Neurons ⁶⁴ Show member pathways Aldosterone Signaling in Epithelial Cells ⁶⁴ Cholera Infection ⁶⁴	12.47	CAMK2A CAMK2B GRIN1 GRIN2B SCN2A
4	WNT Signaling ⁶⁴	12.24	CAMK2A CAMK2B CDH15 TCF4
5	cAMP signaling pathway ³⁷ Show member pathways Hydroxycarboxylic acid-binding receptors ⁶⁶	12.13	CAMK2A CAMK2B GRIN1 GRIN2B
6	Post NMDA receptor activation events ⁶⁶ Show member pathways Activation of CaMK IV ⁶⁶ Activation of NMDA receptor upon glutamate binding and postsynaptic events ⁶⁶ CaMK IV-mediated phosphorylation of CREB ⁶⁶ CREB phosphorylation through the activation of CaMKII ⁶⁶ CREB phosphorylation through the activation of CaMKK ⁶⁶ CREB phosphorylation through the activation of Ras ⁶⁶ Ras activation uopn Ca2+ infux through NMDA receptor ⁶⁶ RSK activation ⁶⁶ Unblocking of NMDA receptor, glutamate binding and activation ⁶⁶	12.05	CAMK2A CAMK2B GRIN1 GRIN2B
7	Long-term potentiation ³⁷ Show member pathways Common Pathways Underlying Drug Addiction ¹ Dopamine D1-Like Receptor Family Signaling Pathways ⁶⁵	11.98	CAMK2A CAMK2B GRIN1 GRIN2B
8	Protein-protein interactions at synapses ⁶⁶ Show member pathways Interactions of neurexins and neuroligins at synapses ⁶⁶	11.85	EPB41L1 GRIN1 GRIN2B STXBP1
9	Cell cycle Cell cycle (generic schema) ²² Show member pathways Cell cycle Regulation of G1/S transition (part 2) ²² G0 and Early G1 ⁶⁶ G2 Phase ⁶⁶	11.78	CAMK2A CAMK2B CDH15 TCF4
10	Amphetamine addiction ³⁷ Show member pathways Cocaine addiction ³⁷	11.77	CAMK2A CAMK2B GRIN1 GRIN2B
11	Neuroscience ⁴	11.76	CACNG2 CAMK2A CAMK2B GRIN1 GRIN2B SCN2A
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	11.55	CACNG2 CAMK2A CAMK2B EPB41L1
13	Non-Canonical Wnt Pathway ⁶⁷	11.46	CAMK2A CAMK2B TCF4
14	Phase 0 - rapid depolarisation ⁶⁶ Show member pathways Phase 2 - plateau phase ⁶⁶	11.43	CACNG2 CAMK2A CAMK2B SCN2A
15	Signal transduction_Erk Interactions- Inhibition of Erk ²²	11.33	CAMK2A CAMK2B GRIN1 GRIN2B
16	SALM protein interactions at the synapses ⁶⁶	10.88	GRIN1 GRIN2B

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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	synapse	GO:0045202	9.73	CACNG2 CAMK2A CAMK2B EEF1A2 GRIN1 GRIN2B
2	glutamatergic synapse	GO:0098978	9.72	CACNG2 GRIN1 SCN2A STXBP1 SYNGAP1
3	endocytic vesicle membrane	GO:0030666	9.58	CACNG2 CAMK2A CAMK2B
4	postsynaptic density	GO:0014069	9.55	CACNG2 CAMK2A GRIN1 GRIN2B SYNGAP1
5	NMDA selective glutamate receptor complex	GO:0017146	9.43	GRIN1 GRIN2B
6	postsynaptic density membrane	GO:0098839	9.13	CACNG2 GRIN1 GRIN2B
7	neuron projection	GO:0043005	9.1	CACNG2 CAMK2A CAMK2B GRIN1 GRIN2B KIF1A
8	plasma membrane	GO:0005886	10.18	CACNG2 CAMK2A CAMK2B CDH15 CSNK2B DOCK8

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

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	nervous system development	GO:0007399	9.83	CAMK2B DEAF1 MBD5 SCN2A TCF4
2	ionotropic glutamate receptor signaling pathway	GO:0035235	9.49	GRIN1 GRIN2B
3	regulation of neuronal synaptic plasticity	GO:0048168	9.48	CAMK2A GRIN1
4	regulation of neuron migration	GO:2001222	9.46	CAMK2A CAMK2B
5	regulation of synaptic plasticity	GO:0048167	9.43	GRIN1 GRIN2B SYNGAP1
6	positive regulation of cysteine-type endopeptidase activity	GO:2001056	9.4	GRIN1 GRIN2B
7	excitatory chemical synaptic transmission	GO:0098976	9.37	GRIN1 GRIN2B
8	MAPK cascade	GO:0000165	9.35	CAMK2A CAMK2B GRIN1 GRIN2B SYNGAP1
9	visual learning	GO:0008542	9.33	DEAF1 GRIN1 SYNGAP1
10	calcium ion transmembrane import into cytosol	GO:0097553	9.32	GRIN1 GRIN2B
11	regulation of long-term neuronal synaptic plasticity	GO:0048169	8.8	CAMK2B GRIN1 SYNGAP1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	identical protein binding	GO:0042802	9.91	CAMK2A CAMK2B CSNK2B KIF1A STXBP1 TCF4
2	glycine binding	GO:0016594	9.37	GRIN1 GRIN2B
3	ionotropic glutamate receptor activity	GO:0004970	9.32	GRIN1 GRIN2B
4	glutamate binding	GO:0016595	9.26	GRIN1 GRIN2B
5	NMDA glutamate receptor activity	GO:0004972	9.16	GRIN1 GRIN2B
6	glutamate-gated calcium ion channel activity	GO:0022849	8.96	GRIN1 GRIN2B
7	Ras guanyl-nucleotide exchange factor activity	GO:0005088	8.92	CAMK2A CAMK2B GRIN1 GRIN2B
8	protein binding	GO:0005515	10.31	CACNG2 CAMK2A CAMK2B CDH15 CSNK2B DEAF1

Sources

Sources for Autosomal Dominant Non-Syndromic Intellectual Disability

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

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 SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia