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

MCID: ATS203 MIFTS: 36	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 ⁵² ⁵⁸ ²⁹ ¹⁵

Mental Retardation, Autosomal Dominant ⁶ ³⁹

Autosomal Dominant Mental Retardation ¹² ³⁶

Autosomal Dominant Non-Syndromic Mental Retardation ¹²

Characteristics:

Orphanet epidemiological data:

⁵⁸

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: ⁵⁸

Rare neurological diseases

External Ids:

Disease Ontology ¹² DOID:0060307

KEGG ³⁶ H00773

Orphanet ⁵⁸ ORPHA178469

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Summaries for Autosomal Dominant Non-Syndromic Intellectual Disability

KEGG : ³⁶ Mental retardation (MR) is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. Most MR genes identified so far were either located on the X chromosome or are associated with an autosomal recessive mode of inheritance. Recently, a lot of genes associated with autosomal dominant mental retardation have been identified.

MalaCards based summary : Autosomal Dominant Non-Syndromic Intellectual Disability, also known as mental retardation, autosomal dominant, is related to autosomal dominant non-syndromic intellectual disability 4 and autosomal dominant non-syndromic intellectual disability 3. 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

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

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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
Autosomal Dominant Non-Syndromic Intellectual Disability 19	Autosomal Dominant Non-Syndromic Intellectual Disability 27
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 100)

#	Related Disease	Score	Top Affiliating Genes
1	autosomal dominant non-syndromic intellectual disability 4	35.4	KIRREL3 CDH15
2	autosomal dominant non-syndromic intellectual disability 3	35.3	KIRREL3 CDH15
3	mental retardation, autosomal dominant 30	34.3	ZMYND11 CIC
4	mental retardation, autosomal dominant 13	34.3	DYNC1H1 DEAF1
5	mental retardation, autosomal dominant 24	33.9	DYNC1H1 DEAF1
6	autism	31.5	SYNGAP1 SCN2A MBD5 KIF1A GRIN2B GRIN1
7	autism spectrum disorder	31.4	ZNF462 SYNGAP1 SCN2A MBD5 GRIN2B DEAF1
8	alacrima, achalasia, and mental retardation syndrome	31.2	STXBP1 GRIN2B GRIN1 CAMK2A
9	autosomal dominant non-syndromic intellectual disability 1	12.8
10	autosomal dominant non-syndromic intellectual disability 2	12.8
11	autosomal dominant non-syndromic intellectual disability 5	12.8
12	autosomal dominant non-syndromic intellectual disability 6	12.8
13	autosomal dominant non-syndromic intellectual disability 8	12.8
14	autosomal dominant non-syndromic intellectual disability 9	12.8
15	autosomal dominant non-syndromic intellectual disability 19	12.8
16	autosomal dominant non-syndromic intellectual disability 27	12.8
17	mental retardation, autosomal dominant 6, with or without seizures	12.7
18	mental retardation, autosomal dominant 55, with seizures	12.6
19	mental retardation, autosomal dominant 57	12.6
20	mental retardation, autosomal dominant 58	12.6
21	autosomal dominant mental retardation 55	12.3
22	mental retardation, autosomal dominant 22	12.1
23	mental retardation, autosomal dominant 7	12.1
24	mental retardation, autosomal dominant 10	12.1
25	mental retardation, autosomal dominant 11	12.1
26	mental retardation, autosomal dominant 18	12.1
27	mental retardation, autosomal dominant 21	12.1
28	mental retardation, autosomal dominant 29	12.1
29	mental retardation, autosomal dominant 33	12.1
30	mental retardation, autosomal dominant 35	12.1
31	mental retardation, autosomal dominant 36	12.1
32	mental retardation, autosomal dominant 38	12.1
33	mental retardation, autosomal dominant 40	12.1
34	mental retardation, autosomal dominant 41	12.1
35	mental retardation, autosomal dominant 43	12.1
36	mental retardation, autosomal dominant 44	12.1
37	coffin-siris syndrome 9	12.1
38	mental retardation, autosomal dominant 23	12.0
39	mental retardation, autosomal dominant 26	12.0
40	mental retardation, autosomal dominant 31	12.0
41	mental retardation, autosomal dominant 32	12.0
42	mental retardation, autosomal dominant 34	12.0
43	mental retardation, autosomal dominant 39	12.0
44	mental retardation, autosomal dominant 42	12.0
45	neurodevelopmental disorder with spastic diplegia and visual defects	11.7
46	neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	11.7
47	mental retardation, autosomal dominant 48	11.5
48	intellectual developmental disorder 59	11.5
49	intellectual developmental disorder 60 with seizures	11.5
50	coffin-siris syndrome 1	11.3

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 17)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00221-A-1	10.09	BRSK2 CAMK2A
2	Decreased viability	GR00221-A-2	10.09	BRSK2
3	Decreased viability	GR00221-A-3	10.09	BRSK2
4	Decreased viability	GR00221-A-4	10.09	BRSK2 CAMK2A
5	Decreased viability	GR00381-A-1	10.09	DOCK8
6	Decreased viability	GR00402-S-2	10.09	BRSK2 CACNG2 CAMK2A CDH15 CHAMP1 CIC
7	Decreased shRNA abundance (Z-score < -2)	GR00366-A-111	9.97	DYNC1H1
8	Decreased shRNA abundance (Z-score < -2)	GR00366-A-167	9.97	ZNF462
9	Decreased shRNA abundance (Z-score < -2)	GR00366-A-17	9.97	CIC
10	Decreased shRNA abundance (Z-score < -2)	GR00366-A-172	9.97	DYNC1H1
11	Decreased shRNA abundance (Z-score < -2)	GR00366-A-184	9.97	CIC DYNC1H1 ZMYND11 ZNF462
12	Decreased shRNA abundance (Z-score < -2)	GR00366-A-27	9.97	ZMYND11
13	Decreased shRNA abundance (Z-score < -2)	GR00366-A-34	9.97	CIC
14	Decreased shRNA abundance (Z-score < -2)	GR00366-A-62	9.97	ZMYND11
15	Decreased shRNA abundance (Z-score < -2)	GR00366-A-65	9.97	DYNC1H1
16	Decreased shRNA abundance (Z-score < -2)	GR00366-A-68	9.97	CIC
17	no effect	GR00402-S-1	9.62	BRSK2 CACNG2 CAMK2A CDH15 CHAMP1 CIC

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

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	10.13	BRSK2 CACNG2 CAMK2A CIC DEAF1 DYNC1H1
2	growth/size/body region	MP:0005378	9.97	CACNG2 CAMK2A CIC DYNC1H1 GRIN1 GRIN2B
3	mortality/aging	MP:0010768	9.86	BRSK2 CACNG2 CAMK2A CIC DEAF1 DYNC1H1
4	nervous system	MP:0003631	9.58	BRSK2 CACNG2 CAMK2A CIC 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

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

#	Genetic test	Affiliating Genes
1	Autosomal Dominant Non-Syndromic Intellectual Disability ²⁹

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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	PMID	Year
1	Extending the phenotype of Xia-Gibbs syndrome in a two-year-old patient with craniosynostosis with a novel de novo AHDC1 missense mutation. ⁶¹	Gumus E	30858058	2020
2	GATAD2B-related intellectual disability due to parental mosaicism and review of literature. ⁶¹	Kaur P...Shukla A	31205050	2019
3	MYT1L mutation in a patient causes intellectual disability and early onset of obesity: a case report and review of the literature. ⁶¹	Al Tuwaijri A...Alfadhel M	30796847	2019
4	Functional characterization of DYRK1A missense variants associated with a syndromic form of intellectual deficiency and autism. ⁶¹	Widowati EW...Becker W	29700199	2018

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Genes for Autosomal Dominant Non-Syndromic Intellectual Disability

Genes related to Autosomal Dominant Non-Syndromic Intellectual Disability (35 elite genes):

(show top 50) (show all 188)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	SCN2A	Sodium Voltage-Gated Channel Alpha Subunit 2	Protein Coding	405.64	Pathogenic ⁶ DISEASES inferred ¹⁵
2	ZNF462	Zinc Finger Protein 462	Protein Coding	400	Pathogenic ⁶
3	SYNGAP1	Synaptic Ras GTPase Activating Protein 1	Protein Coding	356.06	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵
4	DOCK8	Dedicator Of Cytokinesis 8	Protein Coding	355.64	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵
5	MBD5	Methyl-CpG Binding Domain Protein 5	Protein Coding	355.4	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵
6	DYNC1H1	Dynein Cytoplasmic 1 Heavy Chain 1	Protein Coding	355.37	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵
7	DEAF1	DEAF1 Transcription Factor	Protein Coding	355.27	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵
8	STXBP1	Syntaxin Binding Protein 1	Protein Coding	355.19	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵
9	KIRREL3	Kirre Like Nephrin Family Adhesion Molecule 3	Protein Coding	354.96	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵
10	CHAMP1	Chromosome Alignment Maintaining Phosphoprotein 1	Protein Coding	354.86	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵
11	KIF1A	Kinesin Family Member 1A	Protein Coding	354.7	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵
12	GRIN2B	Glutamate Ionotropic Receptor NMDA Type Subunit 2B	Protein Coding	354.69	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵
13	CDH15	Cadherin 15	Protein Coding	353.99	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵
14	KCNQ5	Potassium Voltage-Gated Channel Subfamily Q Member 5	Protein Coding	353.95	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵
15	ZMYND11	Zinc Finger MYND-Type Containing 11	Protein Coding	353.91	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵
16	CIC	Capicua Transcriptional Repressor	Protein Coding	353.89	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁵
17	CAMK2A	Calcium/Calmodulin Dependent Protein Kinase II Alpha	Protein Coding	353.7	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵
18	GRIN1	Glutamate Ionotropic Receptor NMDA Type Subunit 1	Protein Coding	353.33	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵
19	BRSK2	BR Serine/Threonine Kinase 2	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸
20	CACNG2	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 2	Protein Coding	350	Causative germline mutation ⁵⁸
21	CAMK2B	Calcium/Calmodulin Dependent Protein Kinase II Beta	Protein Coding	350	Causative germline mutation ⁵⁸
22	CLTC	Clathrin Heavy Chain	Protein Coding	350	Causative germline mutation ⁵⁸
23	CSNK2B	Casein Kinase 2 Beta	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸
24	CUX1	Cut Like Homeobox 1	Protein Coding	350	Causative germline mutation ⁵⁸
25	EEF1A2	Eukaryotic Translation Elongation Factor 1 Alpha 2	Protein Coding	350	Causative germline mutation ⁵⁸
26	EPB41L1	Erythrocyte Membrane Protein Band 4.1 Like 1	Protein Coding	350	Causative germline mutation ⁵⁸
27	HIVEP2	HIVEP Zinc Finger 2	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸
28	PPP3CA	Protein Phosphatase 3 Catalytic Subunit Alpha	Protein Coding	350	Causative germline mutation ⁵⁸
29	RAB11A	RAB11A, Member RAS Oncogene Family	Protein Coding	350	Causative germline mutation ⁵⁸
30	SET	SET Nuclear Proto-Oncogene	Protein Coding	350	Causative germline mutation ⁵⁸
31	TAOK1	TAO Kinase 1	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸
32	TCF4	Transcription Factor 4	Protein Coding	350	Causative germline mutation ⁵⁸
33	TRPM3	Transient Receptor Potential Cation Channel Subfamily M Member 3	Protein Coding	350	Causative germline mutation ⁵⁸
34	MYT1L	Myelin Transcription Factor 1 Like	Protein Coding	29.66	Candidate gene tested ⁵⁸ DISEASES inferred ¹⁵
35	KDM5B	Lysine Demethylase 5B	Protein Coding	25	Candidate gene tested ⁵⁸
36	ARID1B	AT-Rich Interaction Domain 1B	Protein Coding	8.47	DISEASES inferred ¹⁵
37	H2AC18	H2A Clustered Histone 18	Protein Coding	8.24	DISEASES inferred ¹⁵ ¹⁵
38	MIR9-1	MicroRNA 9-1	RNA Gene	8.17	DISEASES inferred ¹⁵ ¹⁵
39	SMARCE1	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily E, Member 1	Protein Coding	8.16	DISEASES inferred ¹⁵
40	SMARCA2	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 2	Protein Coding	7.38	DISEASES inferred ¹⁵
41	SMARCA4	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 4	Protein Coding	7.34	DISEASES inferred ¹⁵
42	BANF1	BAF Nuclear Assembly Factor 1	Protein Coding	7.33	DISEASES inferred ¹⁵
43	AHDC1	AT-Hook DNA Binding Motif Containing 1	Protein Coding	7.26	DISEASES inferred ¹⁵
44	SMARCB1	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1	Protein Coding	7.26	DISEASES inferred ¹⁵
45	ADNP	Activity Dependent Neuroprotector Homeobox	Protein Coding	7.23	DISEASES inferred ¹⁵
46	SOX11	SRY-Box Transcription Factor 11	Protein Coding	7.02	DISEASES inferred ¹⁵
47	ARID2	AT-Rich Interaction Domain 2	Protein Coding	6.95	DISEASES inferred ¹⁵
48	ARID1A	AT-Rich Interaction Domain 1A	Protein Coding	6.94	DISEASES inferred ¹⁵
49	IGHV4-38-2	Immunoglobulin Heavy Variable 4-38-2	Protein Coding	6.78	DISEASES inferred ¹⁵
50	CHSY3	Chondroitin Sulfate Synthase 3	Protein Coding	6.76	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 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	SCN2A	NM_001040142.2(SCN2A):c.3697G>T (p.Glu1233Ter)	SNV	Pathogenic	377394	rs1057519617	2:166226657-166226657	2:165370147-165370147
2	ZNF462	NM_021224.6(ZNF462):c.3787C>T (p.Arg1263Ter)	SNV	Pathogenic	402116	rs1060499549	9:109689980-109689980	9:106927699-106927699
3	ZNF462	NM_021224.6(ZNF462):c.4263del (p.Glu1422fs)	deletion	Pathogenic	402117	rs1060499551	9:109690455-109690455	9:106928174-106928174
4	ZNF462	NM_021224.6(ZNF462):c.2979_2980delinsA (p.Val994fs)	indel	Pathogenic	402118	rs1060499550	9:109689172-109689173	9:106926891-106926892
5	SMARCA2	NM_003070.5(SMARCA2):c.2329C>G (p.Leu777Val)	SNV	Uncertain significance	377393	rs771591197	9:2081976-2081976	9:2081976-2081976
6	KAT6B	NM_012330.4(KAT6B):c.3544G>A (p.Glu1182Lys)	SNV	Likely benign	377388	rs1057519623	10:76784887-76784887	10:75025129-75025129
7	NAA10	NM_003491.4(NAA10):c.583C>T (p.Arg195Cys)	SNV	Likely benign	377389	rs1057519620	X:153195565-153195565	X:153930112-153930112

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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:

³⁶

#	Name	Kegg Source Accession
1	Dopaminergic synapse	hsa04728
2	Adrenergic signaling in cardiomyocytes	hsa04261
3	cAMP signaling pathway	hsa04024
4	Ras signaling pathway	hsa04014

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

#	Super pathways	Score	Top Affiliating Genes
1	Developmental Biology ⁶⁵ Show member pathways Axon guidance ⁶⁵	13.19	SYNGAP1 SCN2A GRIN2B GRIN1 CDH15 CAMK2A
2	Transmission across Chemical Synapses ⁶⁵ Show member pathways Neuronal System ⁶⁵ Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell ⁶⁵	12.29	STXBP1 KCNQ5 GRIN2B GRIN1 CAMK2A CACNG2
3	Neuroscience ⁴	11.76	SYNGAP1 STXBP1 SCN2A GRIN2B GRIN1 CAMK2A
4	Protein-protein interactions at synapses ⁶⁵ Show member pathways Interactions of neurexins and neuroligins at synapses ⁶⁵	11.69	STXBP1 GRIN2B GRIN1
5	Amphetamine addiction ³⁶ Show member pathways Cocaine addiction ³⁶	11.57	GRIN2B GRIN1 CAMK2A
6	Phase 0 - rapid depolarisation ⁶⁵ Show member pathways Phase 2 - plateau phase ⁶⁵	11.31	SCN2A CAMK2A CACNG2
7	Signal transduction_Erk Interactions- Inhibition of Erk ²²	11.2	GRIN2B GRIN1 CAMK2A
8	SALM protein interactions at the synapses ⁶⁵	10.69	GRIN2B GRIN1

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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	neuron projection	GO:0043005	9.65	KIF1A GRIN2B GRIN1 CAMK2A CACNG2
2	glutamatergic synapse	GO:0098978	9.55	SYNGAP1 STXBP1 SCN2A GRIN1 CACNG2
3	postsynaptic density	GO:0014069	9.35	SYNGAP1 GRIN2B GRIN1 CAMK2A CACNG2
4	NMDA selective glutamate receptor complex	GO:0017146	9.32	GRIN2B GRIN1
5	postsynaptic density membrane	GO:0098839	8.8	GRIN2B GRIN1 CACNG2

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

#	Name	GO ID	Score	Top Affiliating Genes
1	ion transport	GO:0006811	9.85	SCN2A KCNQ5 GRIN2B GRIN1 CACNG2
2	memory	GO:0007613	9.54	SCN2A GRIN1 CIC
3	ionotropic glutamate receptor signaling pathway	GO:0035235	9.48	GRIN2B GRIN1
4	regulation of long-term neuronal synaptic plasticity	GO:0048169	9.43	SYNGAP1 GRIN1
5	regulation of neuronal synaptic plasticity	GO:0048168	9.4	GRIN1 CAMK2A
6	positive regulation of cysteine-type endopeptidase activity	GO:2001056	9.32	GRIN2B GRIN1
7	excitatory chemical synaptic transmission	GO:0098976	9.26	GRIN2B GRIN1
8	calcium ion transmembrane import into cytosol	GO:0097553	9.16	GRIN2B GRIN1
9	regulation of synaptic plasticity	GO:0048167	9.13	SYNGAP1 GRIN2B GRIN1
10	visual learning	GO:0008542	8.8	SYNGAP1 GRIN1 DEAF1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	protein binding	GO:0005515	10.3	ZNF462 ZMYND11 STXBP1 SCN2A KIRREL3 KIF1A
2	glycine binding	GO:0016594	9.32	GRIN2B GRIN1
3	ionotropic glutamate receptor activity	GO:0004970	9.26	GRIN2B GRIN1
4	glutamate binding	GO:0016595	9.16	GRIN2B GRIN1
5	NMDA glutamate receptor activity	GO:0004972	8.96	GRIN2B GRIN1
6	glutamate-gated calcium ion channel activity	GO:0022849	8.62	GRIN2B GRIN1

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 EFO

¹⁸ ExPASy

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 HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

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 NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia