Intellectual Disability malady

Disease Ontology: A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.⁶

MalaCards: Intellectual Disability, also known as mental retardation, is related to mental retardation syndrome and muscular dystrophy. An important gene associated with Intellectual Disability is CCDC22 (coiled-coil domain containing 22), and among its related pathways are Internalin Pathway and Muscular Dystrophies and Dystrophin-Glycoprotein Complex. The drugs buspirone hydrochloride and buspirone and the compounds s-adenosylmethionine and flavin have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotypes are growth/size and mortality/aging.

Wikipedia: Intellectual disability is a broad concept encompassing various intellectual deficits, including mental...⁴⁴ more...

Aliases & Descriptions:

intellectual disability 6 8 mental retardation 43

Diseases related to intellectual disability by text searches and GeneDecks gene sharing:

(show top 50)    (show all 966)

id	Related Disease	Score	Top Affiliating Genes
1	mental retardation syndrome	37.3	RELN, RCAN1, VPS13B, NAGLU, VCX3A, RAI1
2	muscular dystrophy	34.7	CHKB, LAMA2, FKRP, FKTN, GK, DMD
3	wagr syndrome	34.5	PAX6, BDNF, ALDH5A1, ALX4, WT1
4	mental retardation epilepsy	34.5	ATRX, ARX, SRPX2, PHF6, OPHN1, SLC9A6
5	mental retardation, x-linked, nonspecific	34.2	ARHGEF6, RPS6KA3, ACSL4, GDI1
6	x inactivation	33.9	KDM5C, AVPR2, ATRX, FMR1, IQSEC2, ARSE
7	microcephaly	33.5	ZNF238, VPS13B, RAB3GAP1, PAFAH1B1, PAX6, ZEB2
8	alpha thalassemia	33.3	BLMH, ATRX, MECP2, SMARCA1, SMARCA2, SMARCA4
9	rett syndrome	33.0	BDNF, UBE3A, ATRX, CDKL5, FOXG1, GSR
10	hypogonadism	33.0	RAB3GAP1, BBS1, BBS2, ATRX, IL6, ALB
11	fragile x syndrome	32.7	RABEP2, PAH, BDNF, KCNF1, KCNG1, FXR1
12	spasticity	32.6	KIF1A, RAB3GAP1, KDM5C, L1CAM, ATRX, ARHGEF6
13	ataxia	32.5	CNTN4, RAI1, PAX6, SCN8A, SCN1A, UBE3A
14	x-linked ichthyosis	32.4	VCX, VCX3A, VCX3B, NLGN4X, STS
15	mental retardation, x-linked	32.3	ZNF81, ZNF41, ZNF674, ZNF711, VCX3A, VCX3B
16	ichthyosis	32.2	VCX, VCX3A, VCX3B, ARSE, MAP2K2, ALDH3A2
17	cerebellar hypoplasia	32.1	RELN, PAX6, L1CAM, FGFR2, GNAS, GK
18	down syndrome	31.9	RCAN1, PAFAH1B1, PAX6, UBE3A, MTRR, DYRK1A
19	hypotonia	31.7	PIGV, VPS13B, PAX6, SCN1A, UBE3A, LAMA2
20	mental retardation, x-linked syndromic	31.7	KDM5C, UBE2A, MECP2, HSD17B10, CUL4B, SLC9A6
21	borjeson-forssman-lehmann syndrome	31.6	ARHGEF6, ARHGEF7, DLG3, PHF6, SOX3
22	cleft lip	31.6	MTRR, MTR, FKRP, FKTN, FGFR2, CBS
23	cerebellar ataxia	31.6	PAX6, SCN8A, SCN1A, FMR1, CC2D2A, OFD1
24	spastic paraplegia	31.5	KIF1A, KDM5C, L1CAM, ATRX, AP4B1, AP4E1
25	short stature	31.5	VPS13B, RAI1, KDM5C, ATRX, FMR1, ARSE
26	thalassemia	31.4	NAGLU, BLMH, ATRX, GSR, MECP2, IL6
27	phenylketonuria	31.3	PAH, QDPR, OTC, ACADM, ADSL
28	angelman syndrome	31.3	CHRNA7, UBE3A, CDKL5, ASPM, MKRN3, MECP2
29	paraplegia	31.3	KIF1A, KDM5C, L1CAM, ATRX, IL6, AP4B1
30	polydactyly	31.3	BBS1, BBS2, BBS4, CEP290, ARL6, FGFR2
31	williams syndrome	31.2	LIMK1, GTF2I, GTF2IRD1, MED12, ALDH5A1, SMARCA2
32	ppm-x syndrome	31.2	RELN, BDNF, CHRNA7, MAOA, DRD4, NOS1
33	cleft palate	31.1	RAI1, MTRR, MTR, L1CAM, FKRP, FKTN
34	duchenne muscular dystrophy	30.9	CHKB, MB, GK, DMD, OTC, DAG1
35	developmental disabilities	30.9	PAFAH1B1, PAX6, BDNF, UBE3A, FMR1, FGFR2
36	corpus callosum	30.7	CNTN4, RAB3GAP1, RAI1, PAFAH1B1, BDNF, ZEB2
37	congenital heart defect	30.4	MTRR, MTR, CBS, PTER, TBX1, CREBBP
38	hypospadias	30.3	ZEB2, FMR1, ARX, FGFR2, ALDH3A2, HSD17B10
39	limb-girdle muscular dystrophy	30.1	LAMA2, FKRP, FKTN, DMD, POMGNT1, POMT1
40	fukuyama type muscular dystrophy	30.1	LAMA2, FKTN, DMD, DAG1, POMGNT1, POMT1
41	joubert syndrome	30.1	BBS1, CEP290, CC2D2A, OFD1, AHI1, NPHP1
42	hydrocephalus	30.0	BDNF, L1CAM, AVPR2, FKTN, FGFR2, AP1S2
43	congenital cataracts	29.8	PAX6, DMD, COL4A5, OCRL, NHS
44	cataract	29.8	NAGLU, RAB3GAP1, PAX6, CDKL5, GSR, FGFR2
45	walker-warburg syndrome	29.8	LAMA2, FKRP, FKTN, DMD, DAG1, POMT2
46	muscle-eye-brain disease	29.8	LAMA2, FKRP, FKTN, DMD, DAG1, POMT2
47	homocystinuria	29.8	MTRR, MTR, ALB, CBS, SUOX, OTC
48	convulsions	29.7	PCDH19, BDNF, KCNQ2, SCN1A, QDPR, L1CAM
49	tuberous sclerosis	29.7	KIF1A, PAH, GSR, MECP2, MAP2K2, MAP1B
50	tremor	29.6	SCN8A, LAMP2, FMR1, ASPA, CUL4B, COMT

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 buspirone, buspirone hydrochloride

MalaCards organs/tissues related to intellectual disability:

²²

MGI Mouse Phenotypes related to intellectual disability:

²⁵ (show all 25)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size phenotype	MP:0005378	INF	ZNF238, RELN, CNTNAP2, KIF1A, RCAN1, NAGLU
2	mortality/aging	MP:0010768	INF	ZNF238, RELN, KIF1A, NAGLU, RAI1, BLMH
3	embryogenesis phenotype	MP:0005380	INF	PAX6, KDM5C, ZEB2, BBS4, UBR1, ATRX
4	homeostasis/metabolism phenotype	MP:0005376	INF	RCAN1, RAI1, BLMH, PAX6, PAH, BDNF
5	cellular phenotype	MP:0005384	INF	ZNF238, RELN, CNTNAP2, RCAN1, NAGLU, PAFAH1B1
6	reproductive system phenotype	MP:0005389	INF	RELN, RCAN1, CLN8, PAFAH1B1, PAX6, PAH
7	no phenotypic analysis	MP:0003012	INF	LIMK1, BDNF, ZEB2, , UBE3A, L1CAM
8	taste/olfaction phenotype	MP:0005394	10.3	CNTNAP2, PAX6, BDNF, BBS1, BBS2, BBS4
9	pigmentation phenotype	MP:0001186	10.3	NAGLU, CLN8, PAX6, PAH, BBS4, L1CAM
10	craniofacial phenotype	MP:0005382	9.7	NAGLU, RAI1, PAX6, PAH, BDNF, ZEB2
11	endocrine/exocrine gland phenotype	MP:0005379	9.6	RCAN1, PAFAH1B1, KCNJ6, BBS2, BBS4, UBR1
12	renal/urinary system phenotype	MP:0005367	8.7	NAGLU, PAX6, PAH, BBS1, BBS2, BBS4
13	normal phenotype	MP:0002873	8.6	PAX6, BDNF, KDM5C, BBS2, BBS4, YWHAG
14	integument phenotype	MP:0010771	8.5	RELN, CNTNAP2, KIF1A, NAGLU, BLMH, PAX6
15	muscle phenotype	MP:0005369	INF	RELN, PAX6, KCNJ6, , CHKB, UBR1
16	hearing/vestibular/ear phenotype	MP:0005377	INF	NAGLU, PAX6, BDNF, , BBS1, BBS4
17	behavior/neurological phenotype	MP:0005386	INF	RELN, CNTNAP2, KIF1A, RCAN1, NAGLU, RAI1
18	vision/eye phenotype	MP:0005391	INF	RELN, NAGLU, CLN5, CLN8, PAX6, PAH
19	nervous system phenotype	MP:0003631	INF	ZNF238, RELN, CNTNAP2, NAGLU, RAB3GAP1, LIMK1
20	digestive/alimentary phenotype	MP:0005381	INF	RELN, PAX6, BDNF, BBS2, BBS4, UBR1
21	skeleton phenotype	MP:0005390	INF	NAGLU, RAI1, , LAMA2, LAMP2, QDPR
22	adipose tissue phenotype	MP:0005375	INF	RAI1, BBS1, BBS2, BBS4, UBR1, ASPA
23	respiratory system phenotype	MP:0005388	INF	RAI1, PAX6, BDNF, KCNQ2, , CHRNA7
24	liver/biliary system phenotype	MP:0005370	INF	NAGLU, BBS2, BBS4, ARHGAP1, FGFR2, IL6
25	cardiovascular system phenotype	MP:0005385	INF	RCAN1, NAGLU, BLMH, PAX6, , BBS1

Articles related to intellectual disability:

(show all 49)

id	Title	Authors	Year	Affiliating Genes
1	Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects. (22368300)	Willemsen M.H.... Kleefstra T.	2012	DYNC1H1
2	Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin- remodeling complex, is a frequent cause of intellectual disability. (22405089)	Hoyer J.... Reis A.	2012	ARID1B
3	Role of functional dopaminergic gene polymorphisms in the etiology of idiopathic intellectual disability. (21609749)	Bhowmik A.D.... Mukhopadhyay K.	2011	COMT, SLC6A3, DRD4
4	A novel nonsense mutation in KDM5C/JARID1C gene causi ng intellectual disability, short stature and speech delay. (21575681)	Santos-RebouAsas C.B.... Pimentel M.M.	2011	KDM5C
5	A novel deletion mutation in the TUSC3 gene in a cons anguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability. (21513506)	Khan M.A.... Ansar M.	2011	TUSC3
6	Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal- recessive intellectual disability. (21763484)	Rafiq M.A.... Najmabadi H.	2011	MAN1B1
7	Importance of gene variants and co-factors of folate metabolic pathway in the etiology of idiopathic intellectual disability. (22005284)	Dutta S.... Mukhopadhyay K.	2011	MTR, DHFR, MTRR
8	Identification of a novel candidate gene for non-synd romic autosomal recessive intellectual disability: the WASH complex member SWIP . (21498477)	Ropers F.... Rajab A.	2011	WSB1
9	Mutation screening of ASMT, the last enzyme of the me latonin pathway, in a large sample of patients with intellectual disability. (21251267)	Pagan C.... Bourgeron T.	2011	ASMT
10	Adaptor protein complex 4 deficiency causes severe autosomal- recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. (21620353)	Abou Jamra R.... Colleaux L.	2011	AP4S1, AP4M1, AP4B1
11	Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion. (21739600)	Stettner G.M.... Auber B.	2011	AFF2, FRAXE
12	Assessment of 2q23.1 microdeletion syndrome implicate s MBD5 as a single causal locus of intellectual disability, epilepsy, and autis m spectrum disorder. (21981781)	Talkowski M.E.... Elsea S.H.	2011	MBD5
13	A child with mild X-linked intellectual disability an d a microduplication at Xp22.12 including RPS6KA3. (21930553)	Tejada M.I.... LA^pez-ArA-ztegui M.A.	2011	RPS6KA3
14	The adaptor function of TRAPPC2 in mammalian TRAPPs e xplains TRAPPC2-associated SEDT and TRAPPC9-associated congenital intellectual disability. (21858081)	Zong M.... Yu S.	2011	TRAPPC9, TRAPPC2, TRAPPC8
15	MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions. (21990140)	Stevens S.J.... Engelen J.J.	2011	MYT1L
16	MED23 mutation links intellectual disability to dysregulation of immediate early gene expression. (21868677)	Hashimoto S.... Colleaux L.	2011	MED23
17	De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism. (21237447)	Hamdan F.F.... Michaud J.L.	2011	SYNGAP1
18	Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. (21782149)	Sirmaci A.... Tekin M.	2011	ANKRD11
19	Deletion in Xp22.11: PTCHD1 is a candidate gene for X -linked intellectual disability with or without autism. (21091464)	Filges I.... Miny P.	2011	PTCHD1
20	CCDC22: a novel candidate gene for syndromic X-linked intellectual disability. School of Medicine, University of California, Los Angeles, CA, USA. (21826058)	Voineagu I.... Geschwind D.	2011	CCDC22
21	Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability. (20972249)	Moreno-De-Luca A.... Martin C.L.	2011	AP4E1
22	Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. (21376300)	Hamdan F.F.... Michaud J.L.	2011	GRIN1, EPB41L1, CACNG2
23	Intellectual disability without epilepsy associated w ith STXBP1 disruption. (21364700)	Hamdan F.F.... Michaud J.L.	2011	STXBP1
24	SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system. (21035105)	Birk E.... Basel-Vanagaite L.	2010	SOBP
25	A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. (20797691)	Corbett M.A.... Gecz J.	2010	TBC1D24, C16orf13, PRSS41
26	Association between serotonin transporter polymorphis ms and problem behavior in adult males with intellectual disabilities. (20735998)	May M.E.... Kennedy C.H.	2010	SLC6A4
27	Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neur obehavioral problems. (21109226)	Ramocki M.B.... Stankiewicz P.	2010	YWHAG, HIP1
28	Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. (20844286)	Noor A.... Vincent J.B.	2010	PTCHD1, LOC100873065
29	Mutations in the guanine nucleotide exchange factor g ene IQSEC2 cause nonsyndromic intellectual disability. (20473311)	Shoubridge C.... GAccz J.	2010	IQSEC2
30	De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment. (20950788)	Hamdan F.F.... Michaud J.L.	2010	FOXP1
31	Mild intellectual disability associated with a progen y of father-daughter incest: genetic and environmental considerations. (20509080)	Ansermet F.... Paoloni-Giacobino A.	2010	HDGFL1
32	Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, a nd seizures. (19904302)	Williams S.R.... Elsea S.H.	2010	MBD5
33	Intellectual disability, midface hypoplasia, facial h ypotonia, and Alport syndrome are associated with a deletion in Xq22.3. (20186809)	Rodriguez J.D.... Srivastava A.K.	2010	ACSL4, COL4A5
34	Evaluation of clinical checklists for fragile X syndr ome screening in Brazilian intellectually disabled males: proposal for a new sc reening tool. (19786505)	Christofolini D.M.... Melaragno M.I.	2009	FMR1
35	A truncating mutation of TRAPPC9 is associated with a utosomal-recessive intellectual disability and postnatal microcephaly. (20004763)	Mochida G.H.... Walsh C.A.	2009	NFKB1, TRAPPC9
36	Nitric oxide and interlukin-6 levels in intellectual disability adults with epilepsy. (18834707)	Carmeli E.... Morad M.	2009	IL6
37	Blood parameters in adults with intellectual disability at rest and after endurance exercise. (19089748)	Carmeli E.... Merrick J.	2008	CHKB, MB
38	Hereditary spastic paraplegia, bipolar affective disorder and intellectual disability: a case report. (18337300)	Whitty M.... Ramsay L.	2008	SPAST
39	Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability. (19012874)	Bhalla K.... Srivastava A.K.	2008	CASK, CDH15, KIRREL3
40	Antioxidant status in the serum of persons with intellectual disability and hypothyroidism: a pilot study. (17869479)	Carmeli E.... Merrick J.	2008	SOD1, GSR
41	An instructive case of an 8-year-old boy with intellectual disability. (19073314)	Srour M.... Shevell M.I.	2008	DMD
42	Protein and gene expression analysis of Phf6, the gene mutated in the Borjeson-Forssman-Lehmann Syndrome of intellectual disability and obesity. (17698420)	Voss A.K.... Thomas T.	2007	PHF6
43	Prevention of clozapine-induced granulocytopenia/agranulocytosis with granulocyte-colony stimulating factor (G-CSF) in an intellectually disabled patient with schizophrenia. (17181606)	Rajagopal G.... Haut F.F.	2007	CSF3
44	Cytogenetic-molecular analysis of balanced chromosomal rearrangements in nine patients with intellectual disability, dysmorphic features and congenital abnormalities (17028391)	Borg K.... Mazurczak T.	2006	HDAC5
45	Long-term survival in a child with severe congenital contractural arachnodactyly, autism and severe intellectual disability. (16531736)	Snape K.M.... Delatycki M.B.	2006	FBN2
46	Identifying bipolar disorders in individuals with intellectual disability. (12558693)	Cain N.N.... Deutsch L.	2003	NOS1
47	X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX. (12177367)	Scheffer I.E.... Mulley J.C.	2002	ARX
48	Synergistic effect of valproate coadministration and hypoalbuminemia on the serum-free phenytoin concentration in patients with seve re motor and intellectual disabilities. (12151911)	Mamiya K.... Goto S.	2002	ALB
49	Frequency of 985A-to-G mutation in medium-chain acyl-CoA dehydrogenase gene among patients with sudden infant death syndrome, Reye syndrome, severe motor and intellectual disabilities and healthy newborns in Japan. (8840534)	Nagao M.	1996	ACADM

Genes related to intellectual disability according to GeneCards:

(show top 50)    (show all 283)

id	Symbol	Description	Score	GeneCards Section Context
1	CCDC22	coiled-coil domain containing 22	11.1	Publications, Summaries
2	PTCHD1	patched domain containing 1	11.1	Publications, Summaries
3	MAN1B1	mannosidase, alpha, class 1B, member 1	11.1	Summaries, Publications
4	ANKRD11	ankyrin repeat domain 11	11.1	Publications, Summaries
5	MBD5	methyl-CpG binding domain protein 5	11.1	Publications, Summaries
6	SOBP	sine oculis binding protein homolog (Drosophila)	11.1	Summaries, Publications
7	FAM120C	family with sequence similarity 120C	11.0	Summaries
8	FRAXE	fragile site, folic acid type, rare, fra(X)(q28) E	11.0	Publications
9	PRSS41	protease, serine, 41	11.0	Publications
10	C16orf13	chromosome 16 open reading frame 13	11.0	Publications
11	HDGFL1	hepatoma derived growth factor-like 1	11.0	Publications
12	ZCCHC12	zinc finger, CCHC domain containing 12	11.0
13	VCX3B	variable charge, X-linked 3B	11.0
14	VCX	variable charge, X-linked	11.0
15	VCX3A	variable charge, X-linked 3A	11.0
16	NPAS4	neuronal PAS domain protein 4	11.0
17	TBR1	T-box, brain, 1	11.0
18	AP4B1	adaptor-related protein complex 4, beta 1 subunit	11.0	Publications
19	TBC1D24	TBC1 domain family, member 24	11.0	Publications
20	ARX	aristaless related homeobox	11.0	Publications
21	MKRN3	makorin ring finger protein 3	11.0
22	ASMT	acetylserotonin O-methyltransferase	11.0	Publications
23	KCNF1	potassium voltage-gated channel, subfamily F, member 1	11.0
24	ZMYM3	zinc finger, MYM-type 3	11.0	Disorders
25	CLN5	ceroid-lipofuscinosis, neuronal 5	11.0
26	CXXC1	CXXC finger protein 1	11.0
27	SLC25A15	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15	11.0
28	FOXG1	forkhead box G1	11.0
29	RABEP2	rabaptin, RAB GTPase binding effector protein 2	11.0
30	ZNF238	zinc finger protein 238	11.0
31	NXF2	nuclear RNA export factor 2	11.0
32	AP1S1	adaptor-related protein complex 1, sigma 1 subunit	11.0
33	FTSJ1	FtsJ RNA methyltransferase homolog 1 (E. coli)	11.0
34	PIGV	phosphatidylinositol glycan anchor biosynthesis, class V	11.0
35	DCXR	dicarbonyl/L-xylulose reductase	11.0
36	PNKP	polynucleotide kinase 3'-phosphatase	11.0
37	PQBP1	polyglutamine binding protein 1	11.0
38	WSB1	WD repeat and SOCS box containing 1	11.0	Publications
39	TOR3A	torsin family 3, member A	11.0
40	TMEM185A	transmembrane protein 185A	11.0
41	IQSEC2	IQ motif and Sec7 domain 2	11.0	Publications
42	KDM5C	lysine (K)-specific demethylase 5C	11.0	Publications
43	PHF6	PHD finger protein 6	11.0	Publications
44	MED23	mediator complex subunit 23	11.0	Publications
45	SYNGAP1	synaptic Ras GTPase activating protein 1	11.0	Publications
46	TRAPPC2	trafficking protein particle complex 2	11.0	Publications
47	CDH15	cadherin 15, type 1, M-cadherin (myotubule)	11.0	Publications
48	UBE2A	ubiquitin-conjugating enzyme E2A	11.0
49	SUOX	sulfite oxidase	11.0
50	NUFIP2	nuclear fragile X mental retardation protein interacting protein 2	11.0

Pathways related to intellectual disability according to GeneDecks:

(show all 16)

id	Pathway	Score	Top Affiliating Genes
1	Internalin Pathway36	INF	, , HRAS, ARHGEF9, ARHGEF7, ARHGEF6
2	Muscular Dystrophies and Dystrophin-Glycoprotein Complex36	INF	, , NOS1, NRXN1, DAG1, DMD
3	Agrin Interactions at Neuromuscular Junction36	INF	, , DAG1, HRAS, ARHGEF7, ARHGEF6
4	Metabolic pathways20	11.0	ACSL4, ACADM, COMT, NOS1, SMS, OTC
5	Lysosome20	10.6	AGA, AP4S1, AP4M1, AP4E1, AP4B1, AP1S2
6	Arginine and proline metabolism20	10.5	GAMT, GATM, NOS1, SMS, OTC, ALDH3A2
7	Neuroscience3	10.4	CNTNAP2, SOD1, DCX, STXBP1, SYNGAP1, NOS1
8	Chromatin Regulation / Acetylation3	10.2	CREBBP, SMC3, SMC1A, SMARCA4, SMARCA2, SMARCA1
9	GABA signaling in brain10	10.2	GABRB3, GABRD, NLGN4X, NLGN3, NLGN1, NRXN1
10	Guidance Cues and Growth Cone Motility36	10.1	DSCAM, NTRK1, SRGAP3, ARHGEF9, ARHGEF7, ARHGEF6
11	Axon guidance38	INF	RPS6KA3, COL4A5, , , DCX, NRCAM
12	Phospholipase-C Pathway36	INF	CREBBP, RPS6KA3, COL4A5, , NFKB1, ELN
13	Development_Ligand-dependent activation of the ESR1/AP-1 pathway41	INF	EP300, , CREBBP, SMARCA4, SMARCA2, ARID1B
14	FAK1 Signaling36	INF	COL4A5, , , , ELN, HRAS
15	Rho Family GTPases36	INF	MAP2K2, CYFIP1, NTRK1, COL4A5, , NFKB1
16	Development Ligand-dependent activation of the ESR1/AP-1 pathway10	INF	EP300, , CREBBP, SMARCA4, SMARCA2, ARID1B

Compounds related to intellectual disability according to GeneDecks:

(show top 50)    (show all 65)

id	Compound	Score	Top Affiliating Genes
1	s-adenosylmethionine32 9 18 9	13.8	ACADM, GAMT, COMT, SMS, CBS, FTSJ1
2	flavin32	10.8	MTRR, MAOA, CYB5A, MTR, NOS1, ACADM
3	hpaii32	10.7	FMR1, MECP2, WT1, SNRPN, NR0B1, HPRT1
4	pterin32 18	11.7	MTR, PAH, DHFR, NOS1, SUOX, GPHN
5	s-adenosylhomocysteine32 18	11.5	MTRR, MTR, ASMT, COMT, WHSC1, CBS
6	ornithine32 18	11.5	SMS, CHKB, MTR, CBS, DMD, GAMT
7	lysine32	10.4	WT1, NF1, ABCG2, RPS6KA3, CYB5A, AVPR2
8	phencyclidine32 9 9	12.4	DRD4, CHRNA7, GRIN1, GRM5, NOS1, SLC6A3
9	maoa32	10.3	NDP, COMT, MAOA, SLC6A3, SLC6A4, BDNF
10	carbon32	10.3	MB, MAOA, SLC6A3, SLC6A4, DCXR, ELN
11	histidine32	10.2	SMARCA4, WT1, GNAS, CREBBP, STS, MTR
12	catecholamine32	10.2	CHKB, DRD4, AGTR2, COMT, IL1RAPL2, NTRK1
13	succinate32	10.1	NF1, ALDH5A1, DHFR, CHKB, DMD, GK
14	methamphetamine32 9 9	12.1	SLC6A4, SLC6A3, MB, MAOA, NOS1, COMT
15	valproate32	10.1	NAGLU, BDNF, RELN, MECP2, OTC, ABCG2
16	folate32	10.0	PAH, MTRR, MTR, QDPR, FMR1, GSR
17	leucine32	10.0	OTC, NDP, NR0B1, TSC2, ABCG2, PEPD
18	mptp32	10.0	SLC6A4, SLC6A3, COMT, GRIN1, NOS1, MAOA
19	threonine32	10.0	GNAS, IL1RAPL2, GRM5, WT1, FGFR2, QDPR
20	cocaine32 9 9	11.9	COMT, NOS1, DRD4, GRM5, GSR, GRIN1
21	mhpg32	9.9	SLC6A4, BDNF, MAOA, DRD4, COMT
22	steroid32	9.9	ABCG2, ARSE, FGFR2, IL1RAPL2, GNAS, SMARCA4
23	glutamate32	9.8	SHANK3, AGTR2, STXBP1, PEPD, ADSL, MTRR
24	aspartate32	9.8	NTRK1, HRAS, CHKB, GATM, EP300, SLC6A4
25	methylphenidate32 9 9	11.8	SLC6A3, COMT, DRD4, MAOA, SLC6A4
26	clozapine32 34 9 9	12.8	COMT, CSF3, SLC6A3, SLC6A4, NOS1, DRD4
27	levodopa32 9 9	11.8	COMT, SOD1, SLC6A3, DRD4, MAOA, QDPR
28	glutamine32	9.7	CHKB, ALDH5A1, MB, GRIN1, MTR, PAH
29	valine32	9.7	PAH, SLC6A4, BDNF, KCNQ2, MTR, MB
30	cysteine32	9.7	GRIN1, FBN2, MB, ALB, CARS, FGFR2
31	creatinine32	9.5	PEPD, NAGLU, BDNF, MTR, FMR1, AGTR2
32	zinc32 18	10.5	HDAC5, SOD1, STS, PHF6, CREBBP, SMARCA4
33	h2o232	9.5	GSR, HPRT1, GK, CYB5A, NTRK1, BDNF
34	methotrexate32 34 42 9 9	13.5	CSF3, DHFR, ABCG2, HPRT1, CBS, ALB
35	gaba32 42	10.4	GABRB3, GRIN1, GRIK1, MECP2, GSR, ARX
36	dopamine32 9 18 9	12.4	DLG4, CHRNA7, CHKB, QDPR, NF1, DHFR
37	norepinephrine32 9 18 9	12.3	IL6, CHKB, GRIN1, GRM5, IL1RAPL2, MB
38	oligonucleotide32	9.3	PAH, ZNF673, STS, SMARCA4, GTF2I, SUOX
39	arginine32	9.2	AGTR2, ELN, EP300, ACADM, NOS1, ABCG2
40	epinephrine32 9 18 9	12.1	CHKB, COMT, SLC6A4, CSF3, GSR, PAH
41	calcium32 9 18 9	12.1	CDH15, SHANK2, CACNG2, ELN, AGTR2, STS
42	serine32	9.0	PEPD, HRAS, NF1, TSC1, WT1, EP300
43	alanine32	8.9	ALDH5A1, AGTR2, DMD, PEPD, TSC1, ELN
44	nitric oxide32 9 18 9	11.6	NFKB1, NOS1, IL6, HRAS, DMD, DLG4
45	estrogen32	8.6	PTGES3, ZNF673, NTRK1, NR0B1, SMARCA2, SMARCA4
46	atp32	8.6	SMC3, TSC2, PNKP, CREBBP, RPS6KA3, GK
47	testosterone32 9 18 9	11.5	IL6, MB, NTRK1, MAOA, ALB, HPRT1
48	nmda32 42	9.5	GRM5, DLG3, IL1RAPL2, GRIN1, GRIK1, BDNF
49	lipid32	8.4	ALDH3A2, RELN, GNAS, CBS, HSD17B10, HRAS
50	tyrosine32	7.4	ARHGAP1, GTF2I, FGFR2, GRIN1, GRM5, IL1RAPL2

Cellular components related to intellectual disability according to GeneDecks:

(show all 12)

id	Name	GO ID	Score	Top Affiliating Genes
1	cytosol	GO:005829	INF	GDI1, , NFKB1, COMT, RPS6KA3, NOS1
2	cytoplasm	GO:005737	INF	PQBP1, NR0B1, SMC1A, SMC3, CRBN, CREBBP
3	cilium membrane	GO:060170	10.8	SHANK3, SHANK2, CASK, ARL6, BBS4, BBS2
4	microtubule basal body	GO:005932	10.7	BBS2, BBS4, CEP290, ARL6, CC2D2A, OFD1
5	excitatory synapse	GO:060076	10.5	NLGN4X, NLGN3, DLG4, GRIN1, FGFR2
6	BBSome	GO:034464	10.4	ARL6, BBS4, BBS2, BBS1
7	synapse	GO:045202	9.7	NLGN4X, NLGN3, NLGN1, NOS1, NRXN1, NRCAM
8	cell junction	GO:030054	9.6	NLGN3, NLGN4X, SHANK2, SHANK3, OPHN1, GABRD
9	postsynaptic membrane	GO:045211	9.5	NLGN4X, SHANK2, SHANK3, GABRD, GABRB3, NLGN1
10	nucleolus	GO:005730	INF	SHROOM4, WT1, NFKB1, PHF8, PHF6, PNKP
11	axon	GO:030424	INF	SLC6A3, DSCAM, ACADM, , NF1, MAP1B
12	nucleus	GO:005634	INF	SMARCA1, SMARCA2, SMARCA4, SMC1A, SMC3, PNKP

Biological processes related to intellectual disability according to GeneDecks:

(show all 36)

id	Name	GO ID	Score	Top Affiliating Genes
1	axon guidance	GO:007411	INF	RPS6KA3, NRXN1, NRCAM, DLG4, COL4A5,
2	cellular nitrogen compound metabolic process	GO:034641	11.3	GAMT, GATM, SLC25A15, SLC6A8, SMS, OTC
3	protein localization to organelle	GO:033365	11.0	PES1, AHI1, BBS4, BBS2, PAX6
4	cilium morphogenesis	GO:060271	10.8	AHI1, OFD1, CC2D2A, CEP290, BBS4, BBS2
5	brain morphogenesis	GO:048854	10.8	BBS2, BBS4, SHANK3, SLC6A4, PAFAH1B1
6	social behavior	GO:035176	10.7	SLC6A4, SHANK3, NLGN4X, NLGN3, NRXN1, TBX1
7	regulation of small GTPase mediated signal transduction	GO:051056	10.7	GDI1, OCRL, OPHN1, STARD13, TSC2, SRGAP3
8	positive regulation of axon extension	GO:045773	10.7	EP300, MAP1B, CDKL5, PAFAH1B1, LIMK1
9	central nervous system development	GO:007417	10.6	ALDH5A1, NRCAM, RPS6KA3, AHI1, DCX, SOX3
10	cognition	GO:050890	10.6	SHROOM4, NF1, NIPBL, PTCHD1, TUSC3, CHRNA7
11	positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	GO:2000969	10.6	SHANK3, NLGN3, RELN
12	neuron migration	GO:001764	10.6	DCX, NRCAM, ARX, ASPM, CDKL5, PAX6
13	visual learning	GO:008542	10.5	SYNGAP1, NF1, NLGN3, HRAS, GRIN1, MECP2
14	hippocampus development	GO:021766	10.5	TSC1, BBS4, BBS2, ZEB2, PAFAH1B1, RELN
15	dendrite development	GO:016358	10.5	SYNGAP1, MAP1B, MECP2, BBS4, BDNF, PAK3
16	small molecule metabolic process	GO:044281	10.4	ACADM, ABCG2, COMT, CREBBP, SMS, CYB5A
17	synaptic transmission	GO:007268	10.4	HRAS, DLG3, DLG4, RPS6KA3, COMT, STXBP1
18	neurotransmitter biosynthetic process	GO:042136	10.4	SLC6A3, COMT, NOS1, MAOA, PAH
19	positive regulation of excitatory postsynaptic membrane potential	GO:2000463	10.4	SHANK3, NLGN3, NLGN1, NRXN1, DLG4, GRIN1
20	cilium assembly	GO:042384	10.4	OCRL, AHI1, CC2D2A, ARL6, CEP290, BBS4
21	striatum development	GO:021756	10.3	HPRT1, BBS4, BBS2, CNTNAP2
22	regulation of N-methyl-D-aspartate selective glutamate receptor activity	GO:2000310	10.3	NLGN3, NLGN1, NRXN1, DLG4, RELN
23	N-methyl-D-aspartate receptor clustering	GO:097114	10.3	SHANK3, NRXN1, RELN
24	negative regulation of neuron differentiation	GO:045665	10.3	CNTN4, PAX6, CDK5RAP2, ASPM, SOX3, SLC6A4
25	vocalization behavior	GO:071625	10.3	SHANK3, NLGN4X, NRXN1, CNTNAP2
26	positive regulation of synaptic transmission, glutamatergic	GO:051968	10.3	SHANK3, NLGN3, NLGN1, NRXN1, RELN
27	cerebral cortex development	GO:021987	10.2	TSC1, NF1, GRIN1, BBS4, BBS2, PAFAH1B1
28	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate receptor clustering	GO:097113	10.2	SHANK3, NLGN1, DLG4
29	presynaptic membrane assembly	GO:097105	10.2	NLGN4X, NLGN3, NLGN1, NRXN1, IL1RAPL1
30	receptor localization to synapse	GO:097120	10.2	NLGN1, NRXN1, DLG4, RELN
31	positive regulation of transcription, DNA-dependent	GO:045893	10.1	SMARCA4, CREBBP, PHF8, NFKB1, WT1, NDP
32	brain development	GO:007420	10.1	RELN, NIPBL, PHF8, NF1, SHANK2, SHROOM4
33	neuron cell-cell adhesion	GO:007158	10.0	NLGN3, NLGN1, NRXN1, CTNND2, CNTN4
34	positive regulation of transcription from RNA polymerase II promoter	GO:045944	9.9	SMARCA4, CREBBP, NOS1, RPS6KA3, NFKB1, AHI1
35	regulation of synaptic plasticity	GO:048167	9.8	SYNGAP1, CTNND2, YWHAG, BDNF, CNTN4
36	nervous system development	GO:007399	INF	SMARCA2, SPAST, DLG4, DYRK1A, GRIK1, NLGN1

Molecular functions related to intellectual disability according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	neurexin family protein binding	GO:042043	10.2	CASK, NLGN1, NLGN3, NLGN4X
2	protein homodimerization activity	GO:042803	9.6	NR0B1, NLGN4X, NFKB1, NDP, ABCG2, TSC2
3	protein binding	GO:005515	INF	DAG1, SMC3, CRBN, CREBBP, NOS1, NLGN3