Mental Retardation, Autosomal Dominant 40 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Mental Retardation, Autosomal Dominant 40

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 40:

Name: Mental Retardation, Autosomal Dominant 40 ⁵⁶ ⁷³ ²⁹ ⁶

Mrd40 ⁵⁶ ¹² ⁷³

Autosomal Dominant Non-Syndromic Intellectual Disability 40 ¹² ¹⁵

Autosomal Dominant Mental Retardation 40 ¹²

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset at birth

HPO:

³¹

mental retardation, autosomal dominant 40:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Mental diseases Neuronal diseases Eye diseases Cardiovascular diseases Bone diseases Skin diseases Gastrointestinal diseases Ear diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0070070

OMIM ⁵⁶ 616579

OMIM Phenotypic Series ⁵⁶ PS156200

MeSH ⁴³ D008607

MedGen ⁴¹ C4225275 CN233017

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Summaries for Mental Retardation, Autosomal Dominant 40

UniProtKB/Swiss-Prot : ⁷³ Mental retardation, autosomal dominant 40: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

MalaCards based summary : Mental Retardation, Autosomal Dominant 40, also known as mrd40, is related to phenytoin or carbamazepine toxicity and frontal fibrosing alopecia. An important gene associated with Mental Retardation, Autosomal Dominant 40 is CHAMP1 (Chromosome Alignment Maintaining Phosphoprotein 1), and among its related pathways/superpathways are Measles and Herpes simplex virus 1 infection. Affiliated tissues include eye, bone and lung, and related phenotypes are microcephaly and low-set ears

Disease Ontology : ¹² An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant de novo heterozygous mutation in the CHAMP1 gene (616327) on chromosome 13q34.

More information from OMIM: 616579 PS156200

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Related Diseases for Mental Retardation, Autosomal Dominant 40

Diseases in the Mental Retardation, Autosomal Dominant 20 family:

Mental Retardation, Autosomal Recessive 2	Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 22	Mental Retardation, Autosomal Recessive 14
Mental Retardation, Autosomal Dominant 7	Mental Retardation, Autosomal Recessive 15
Mental Retardation, Autosomal Recessive 16	Mental Retardation, Autosomal Recessive 18
Mental Retardation, Autosomal Dominant 10	Mental Retardation, Autosomal Dominant 11
Mental Retardation, Autosomal Recessive 31	Mental Retardation, Autosomal Recessive 29
Mental Retardation, Autosomal Recessive 27	Mental Retardation, Autosomal Recessive 33
Mental Retardation, Autosomal Recessive 30	Mental Retardation, Autosomal Recessive 19
Mental Retardation, Autosomal Recessive 23	Mental Retardation, Autosomal Recessive 24
Mental Retardation, Autosomal Recessive 25	Mental Retardation, Autosomal Recessive 28
Mental Retardation, Autosomal Dominant 13	Mental Retardation, Autosomal Dominant 18
Mental Retardation, Autosomal Recessive 35	Mental Retardation, Autosomal Recessive 36
Mental Retardation, Autosomal Recessive 37	Mental Retardation, Autosomal Dominant 21
Mental Retardation, Autosomal Recessive 38	Mental Retardation, Autosomal Recessive 39
Mental Retardation, Autosomal Recessive 40	Mental Retardation, Autosomal Recessive 41
Mental Retardation, Autosomal Dominant 23	Mental Retardation, Autosomal Recessive 42
Mental Retardation, Autosomal Recessive 43	Mental Retardation, Autosomal Dominant 24
Mental Retardation, Autosomal Dominant 26	Mental Retardation, Autosomal Recessive 44
Mental Retardation, Autosomal Recessive 45	Mental Retardation, Autosomal Dominant 29
Mental Retardation, Autosomal Dominant 30	Mental Retardation, Autosomal Recessive 46
Mental Retardation, Autosomal Dominant 31	Mental Retardation, Autosomal Recessive 47
Mental Retardation, Autosomal Dominant 32	Mental Retardation, Autosomal Recessive 48
Mental Retardation, Autosomal Recessive 49	Mental Retardation, Autosomal Dominant 33
Mental Retardation, Autosomal Dominant 34	Mental Retardation, Autosomal Dominant 35
Mental Retardation, Autosomal Dominant 36	Mental Retardation, Autosomal Dominant 38
Mental Retardation, Autosomal Recessive 50	Mental Retardation, Autosomal Dominant 39
Mental Retardation, Autosomal Dominant 40	Mental Retardation, Autosomal Recessive 51
Mental Retardation, Autosomal Recessive 52	Mental Retardation, Autosomal Recessive 53
Mental Retardation, Autosomal Dominant 41	Mental Retardation, Autosomal Dominant 42
Mental Retardation, Autosomal Dominant 43	Mental Retardation, Autosomal Recessive 54
Mental Retardation, Autosomal Recessive 55	Mental Retardation, Autosomal Dominant 44
Mental Retardation, Autosomal Recessive 56	Mental Retardation, Autosomal Recessive 57
Mental Retardation, Autosomal Recessive 58	Mental Retardation, Autosomal Recessive 59
Mental Retardation, Autosomal Recessive 60	Mental Retardation, Autosomal Dominant 45
Mental Retardation, Autosomal Dominant 46	Mental Retardation, Autosomal Dominant 47
Mental Retardation, Autosomal Dominant 48	Mental Retardation, Autosomal Dominant 49
Mental Retardation, Autosomal Recessive 61	Mental Retardation, Autosomal Dominant 50
Mental Retardation, Autosomal Dominant 51	Mental Retardation, Autosomal Dominant 52
Mental Retardation, Autosomal Dominant 53	Mental Retardation, Autosomal Dominant 54
Mental Retardation, Autosomal Dominant 56	Mental Retardation, Autosomal Dominant 57
Mental Retardation, Autosomal Recessive 63	Mental Retardation, Autosomal Recessive 64
Mental Retardation, Autosomal Dominant 58	Mental Retardation, Autosomal Recessive 65
Mental Retardation, Autosomal Recessive 66	Autosomal Dominant Mental Retardation 55

Diseases related to Mental Retardation, Autosomal Dominant 40 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)

#	Related Disease	Score	Top Affiliating Genes
1	phenytoin or carbamazepine toxicity	10.2	HLA-B HLA-A
2	frontal fibrosing alopecia	10.2	HLA-B HLA-A
3	malignant essential hypertension	10.2	HLA-A CABIN1
4	hemorrhagic cystitis	10.2	HLA-A CABIN1
5	colorectal cancer, hereditary nonpolyposis, type 8	10.2	HLA-B HLA-A
6	cystic echinococcosis	10.0	HLA-DRB1 HLA-B
7	coronavirus infection	10.0	HLA-B DPP4
8	pyelitis	10.0	CABIN1 B2M
9	waldenstroem's macroglobulinemia	10.0	CXCR4 B2M
10	primary autosomal recessive microcephaly	10.0	CHAMP1 CETN1 CEP192 CEP152
11	intermediate uveitis	10.0	HLA-DRB1 HLA-B
12	acute disseminated encephalomyelitis	9.9	HLA-DRB1 HLA-B
13	postherpetic neuralgia	9.9	HLA-DRB1 HLA-B HLA-A
14	moyamoya angiopathy	9.9	HLA-DRB1 HLA-B HLA-A
15	nontuberculous mycobacterial lung disease	9.9	HLA-DRB1 HLA-B HLA-A
16	idiopathic bronchiectasis	9.9	HLA-DRB1 HLA-B HLA-A
17	red cell aplasia	9.9	HLA-DRB1 HLA-B HLA-A
18	pityriasis rosea	9.9	HLA-DRB1 HLA-B HLA-A
19	pars planitis	9.9	HLA-DRB1 HLA-B HLA-A
20	paraneoplastic pemphigus	9.9	HLA-DRB1 HLA-B HLA-A
21	alveolar echinococcosis	9.9	HLA-DRB1 HLA-B HLA-A
22	pure red-cell aplasia	9.9	HLA-DRB1 HLA-B HLA-A
23	autoimmune gastritis	9.9	HLA-DRB1 HLA-B HLA-A
24	histoplasmosis	9.9	HLA-DRB1 HLA-B HLA-A
25	herpes zoster	9.9	HLA-DRB1 HLA-B HLA-A
26	vogt-koyanagi-harada disease	9.9	HLA-DRB1 HLA-B HLA-A
27	graft-versus-host disease	9.9	HLA-DRB1 HLA-B HLA-A
28	dengue hemorrhagic fever	9.9	HLA-DRB1 HLA-B HLA-A
29	severe cutaneous adverse reaction	9.8	HLA-DRB1 HLA-B HLA-A
30	takayasu arteritis	9.8	HLA-DRB1 HLA-B HLA-A
31	stevens-johnson syndrome/toxic epidermal necrolysis	9.8	HLA-B HLA-A CXCR4
32	rubella	9.8	HLA-DRB1 HLA-B HLA-A
33	chronic pyelonephritis	9.8	HLA-B HLA-A B2M
34	alopecia areata	9.8	HLA-DRB1 HLA-B HLA-A
35	cytomegalovirus infection	9.8	HLA-B HLA-A B2M
36	spastic paraparesis	9.8	HLA-B HLA-A
37	psoriatic arthritis	9.8	HLA-DRB1 HLA-B HLA-A
38	graves' disease	9.8	HLA-DRB1 HLA-B HLA-A
39	behcet syndrome	9.7	HLA-DRB1 HLA-B HLA-A
40	intraocular lymphoma	9.7	CXCR4 CXCL12
41	spherocytosis, type 5	9.7	CXCR4 CXCL12
42	melanoma, uveal	9.7	HLA-B HLA-A CXCR4
43	sympathetic ophthalmia	9.7	HLA-DRB1 CXCL12
44	panuveitis	9.6	HLA-DRB1 HLA-B
45	whim syndrome	9.5	CXCR4 CXCL12
46	polyradiculoneuropathy	9.4	HLA-DRB1 CXCR4 CXCL12
47	aids dementia complex	9.4	CXCR4 CXCL12 B2M
48	viral infectious disease	9.4	HLA-B HLA-A CXCR4 B2M
49	celiac disease 1	9.4	HLA-DRB1 HLA-B HLA-A DPP4
50	primary biliary cirrhosis	9.4	HLA-DRB1 HLA-B HLA-A DPP4

Graphical network of the top 20 diseases related to Mental Retardation, Autosomal Dominant 40:

Sources

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 40

Human phenotypes related to Mental Retardation, Autosomal Dominant 40:

³¹ (show all 25)

#	Description	HPO Frequency	HPO Source Accession
1	microcephaly ³¹	occasional (7.5%)	HP:0000252
2	low-set ears ³¹		HP:0000369
3	intellectual disability ³¹		HP:0001249
4	high palate ³¹		HP:0000218
5	global developmental delay ³¹		HP:0001263
6	recurrent respiratory infections ³¹		HP:0002205
7	feeding difficulties ³¹		HP:0011968
8	gastroesophageal reflux ³¹		HP:0002020
9	stereotypy ³¹		HP:0000733
10	open mouth ³¹		HP:0000194
11	short philtrum ³¹		HP:0000322
12	generalized hypotonia ³¹		HP:0001290
13	tented upper lip vermilion ³¹		HP:0010804
14	strabismus ³¹		HP:0000486
15	epicanthus ³¹		HP:0000286
16	everted lower lip vermilion ³¹		HP:0000232
17	absent speech ³¹		HP:0001344
18	gait ataxia ³¹		HP:0002066
19	upslanted palpebral fissure ³¹		HP:0000582
20	joint hypermobility ³¹		HP:0001382
21	impaired pain sensation ³¹		HP:0007328
22	long face ³¹		HP:0000276
23	pointed chin ³¹		HP:0000307
24	hypermetropia ³¹		HP:0000540
25	facial hypotonia ³¹		HP:0000297

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Ears:
low-set ears

Abdomen Gastrointestinal:
feeding difficulties
gastroesophageal reflux

Head And Neck Face:
short philtrum
long face
pointed chin
hypotonic facies
variable dysmorphic features

Skeletal:
joint hypermobility

Neurologic Central Nervous System:
ataxic gait
delayed psychomotor development
poor or absent speech
decreased pain sensation
intellectual disability, moderate to severe

Head And Neck Head:
microcephaly (-2 to -3 sd) (in some patients)

Respiratory:
recurrent respiratory infections

Head And Neck Mouth:
open mouth
high-arched palate
everted lower lip
tented upper lip

Head And Neck Eyes:
strabismus
epicanthal folds
hyperopia
upslanting palpebral fissures

Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
friendly personality
autistic features (in some patients)
stereotypic behavior

Clinical features from OMIM:

616579

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Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 40

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 40

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Genetic Tests for Mental Retardation, Autosomal Dominant 40

Genetic tests related to Mental Retardation, Autosomal Dominant 40:

#	Genetic test	Affiliating Genes
1	Mental Retardation, Autosomal Dominant 40 ²⁹	CHAMP1

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Anatomical Context for Mental Retardation, Autosomal Dominant 40

MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 40:

⁴⁰

Eye, Bone, Lung, Skin

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Publications for Mental Retardation, Autosomal Dominant 40

Articles related to Mental Retardation, Autosomal Dominant 40:

#	Title	Authors	PMID	Year
1	De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment. ⁵⁶ ⁶	Hempel M...Lessel D	26340335	2015
2	Large-scale discovery of novel genetic causes of developmental disorders. ⁵⁶ ⁶	Deciphering Developmental Disorders Study	25533962	2015
3	Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. ⁵⁶ ⁶	Rauch A...Strom TM	23020937	2012

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Genes for Mental Retardation, Autosomal Dominant 40

Genes related to Mental Retardation, Autosomal Dominant 40 (1 elite genes):

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CHAMP1	Chromosome Alignment Maintaining Phosphoprotein 1	Protein Coding	1026.38	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	25533962 26340335 23020937
2	CEP192	Centrosomal Protein 192	Protein Coding	6.08	DISEASES inferred ¹⁵
3	CETN1	Centrin 1	Protein Coding	5.84	DISEASES inferred ¹⁵
4	CEP152	Centrosomal Protein 152	Protein Coding	5.5	DISEASES inferred ¹⁵
5	CABIN1	Calcineurin Binding Protein 1	Protein Coding	5.33	DISEASES inferred ¹⁵
6	GATD3A	Glutamine Amidotransferase Like Class 1 Domain Containing 3A	Protein Coding	5.09	DISEASES inferred ¹⁵
7	HLA-B	Major Histocompatibility Complex, Class I, B	Protein Coding	4.16	DISEASES inferred ¹⁵
8	HLA-A	Major Histocompatibility Complex, Class I, A	Protein Coding	3.93	DISEASES inferred ¹⁵
9	HLA-DRB1	Major Histocompatibility Complex, Class II, DR Beta 1	Protein Coding	3.92	DISEASES inferred ¹⁵
10	B2M	Beta-2-Microglobulin	Protein Coding	3.52	DISEASES inferred ¹⁵
11	DPP4	Dipeptidyl Peptidase 4	Protein Coding	3.5	DISEASES inferred ¹⁵
12	CXCL12	C-X-C Motif Chemokine Ligand 12	Protein Coding	3.4	DISEASES inferred ¹⁵
13	CXCR4	C-X-C Motif Chemokine Receptor 4	Protein Coding	3.36	DISEASES inferred ¹⁵

Sources

Variations for Mental Retardation, Autosomal Dominant 40

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 40:

⁶ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	CHAMP1	NM_032436.4(CHAMP1):c.635del (p.Pro212fs)	deletion	Pathogenic	208414	rs797044961	13:115089949-115089949	13:114324474-114324474
2	CHAMP1	NM_032436.4(CHAMP1):c.1192C>T (p.Arg398Ter)	SNV	Pathogenic	208415	rs797044962	13:115090509-115090509	13:114325034-114325034
3	CHAMP1	NM_032436.4(CHAMP1):c.1768C>T (p.Gln590Ter)	SNV	Pathogenic	208416	rs200070245	13:115091085-115091085	13:114325610-114325610
4	CHAMP1	NM_032436.4(CHAMP1):c.1866_1867del (p.Asp622fs)	deletion	Pathogenic	208417	rs797044963	13:115091182-115091183	13:114325707-114325708
5	CHAMP1	NM_032436.4(CHAMP1):c.1002G>A (p.Trp334Ter)	SNV	Pathogenic	210049	rs879255261	13:115090319-115090319	13:114324844-114324844
6	CHAMP1	NM_032436.4(CHAMP1):c.1489C>T (p.Arg497Ter)	SNV	Pathogenic	210050	rs782397980	13:115090806-115090806	13:114325331-114325331
7	CHAMP1	NM_032436.4(CHAMP1):c.1150C>T (p.Pro384Ser)	SNV	Uncertain significance	592137	rs1430511251	13:115090467-115090467	13:114324992-114324992

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Expression for Mental Retardation, Autosomal Dominant 40

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 40.

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Pathways for Mental Retardation, Autosomal Dominant 40

Pathways related to Mental Retardation, Autosomal Dominant 40 according to GeneCards Suite gene sharing:

(show all 16)

#	Super pathways	Score	Top Affiliating Genes
1	Measles ³⁶ Show member pathways Epstein-Barr virus infection ³⁶ Influenza A ³⁶	12.54	HLA-DRB1 HLA-B HLA-A B2M
2	Herpes simplex virus 1 infection ³⁶	12.52	HLA-DRB1 HLA-B HLA-A B2M
3	Human cytomegalovirus infection ³⁶ Show member pathways Human immunodeficiency virus 1 infection ³⁶ Kaposi sarcoma-associated herpesvirus infection ³⁶	12.51	HLA-B HLA-A CXCR4 CXCL12 B2M
4	NF-kappaB Signaling ⁴	12.22	CXCR4 CXCL12 CABIN1 B2M
5	Interferon gamma signaling ⁶⁵ Show member pathways Interferon Signaling ⁶⁵ Regulation of IFNG signaling ⁶⁵	12.16	HLA-DRB1 HLA-B HLA-A B2M
6	Phagosome ³⁶	11.87	HLA-DRB1 HLA-B HLA-A
7	Cell adhesion molecules (CAMs) ³⁶	11.84	HLA-DRB1 HLA-B HLA-A
8	Allograft rejection ¹ ³⁶ Show member pathways Antigen processing and presentation ³⁶ Asthma ³⁶ Autoimmune thyroid disease ³⁶ CTL Mediated Apoptosis ⁶³ Graft-versus-host disease ³⁶ Intestinal immune network for IgA production ³⁶ THC Differentiation Pathway ⁶³ Type I diabetes mellitus ³⁶ Viral myocarditis ³⁶	11.84	HLA-DRB1 HLA-B HLA-A CXCR4 CXCL12 B2M
9	Human T-cell leukemia virus 1 infection ³⁶	11.8	HLA-DRB1 HLA-B HLA-A B2M
10	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell ⁶⁵	11.78	HLA-B HLA-A B2M
11	IL12-mediated signaling events ¹ Show member pathways Immune response IL-12-induced IFN-gamma production ²²	11.69	HLA-DRB1 HLA-A B2M
12	TCR signaling in naive CD4+ T cells ¹ Show member pathways TCR signaling in naive CD8+ T cells ¹	11.64	HLA-DRB1 HLA-A B2M
13	CXCR4-mediated signaling events ¹	11.31	HLA-DRB1 CXCR4 CXCL12
14	Syndecan-4-mediated signaling events ¹	11.05	CXCR4 CXCL12
15	Gastric Cancer Network 1 ¹	11.02	GATD3A CEP192
16	Antigen Presentation- Folding, assembly and peptide loading of class I MHC ⁶⁵	10.53	HLA-B HLA-A B2M

Sources

GO Terms for Mental Retardation, Autosomal Dominant 40

Cellular components related to Mental Retardation, Autosomal Dominant 40 according to GeneCards Suite gene sharing:

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular exosome	GO:0070062	9.98	HLA-DRB1 HLA-B HLA-A DPP4 CXCR4 CXCL12
2	external side of plasma membrane	GO:0009897	9.71	HLA-DRB1 HLA-B CXCR4 CXCL12
3	early endosome membrane	GO:0031901	9.67	HLA-B HLA-A B2M
4	centriole	GO:0005814	9.63	CETN1 CEP192 CEP152
5	cell surface	GO:0009986	9.63	HLA-DRB1 HLA-B HLA-A DPP4 CXCR4 B2M
6	recycling endosome membrane	GO:0055038	9.54	HLA-B HLA-A B2M
7	phagocytic vesicle membrane	GO:0030670	9.5	HLA-B HLA-A B2M
8	pericentriolar material	GO:0000242	9.48	CEP192 CEP152
9	integral component of lumenal side of endoplasmic reticulum membrane	GO:0071556	9.43	HLA-DRB1 HLA-B HLA-A
10	ER to Golgi transport vesicle membrane	GO:0012507	9.26	HLA-DRB1 HLA-B HLA-A B2M
11	MHC class I protein complex	GO:0042612	8.8	HLA-B HLA-A B2M

Biological processes related to Mental Retardation, Autosomal Dominant 40 according to GeneCards Suite gene sharing:

(show all 16)

#	Name	GO ID	Score	Top Affiliating Genes
1	viral process	GO:0016032	9.84	HLA-DRB1 HLA-B CXCR4 CXCL12
2	response to hypoxia	GO:0001666	9.72	DPP4 CXCR4 CXCL12
3	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	GO:0002479	9.63	HLA-B HLA-A B2M
4	immune response	GO:0006955	9.63	HLA-DRB1 HLA-B HLA-A CXCR4 CXCL12 B2M
5	regulation of calcium ion transport	GO:0051924	9.56	CXCR4 CXCL12
6	antigen processing and presentation	GO:0019882	9.54	HLA-DRB1 HLA-B HLA-A
7	centriole replication	GO:0007099	9.52	CETN1 CEP152
8	centrosome duplication	GO:0051298	9.51	CEP192 CEP152
9	detection of temperature stimulus involved in sensory perception of pain	GO:0050965	9.49	CXCR4 CXCL12
10	detection of mechanical stimulus involved in sensory perception of pain	GO:0050966	9.48	CXCR4 CXCL12
11	protection from natural killer cell mediated cytotoxicity	GO:0042270	9.43	HLA-B HLA-A
12	antigen processing and presentation of peptide antigen via MHC class I	GO:0002474	9.43	HLA-B HLA-A B2M
13	telencephalon cell migration	GO:0022029	9.4	CXCR4 CXCL12
14	response to ultrasound	GO:1990478	9.32	CXCR4 CXCL12
15	interferon-gamma-mediated signaling pathway	GO:0060333	9.26	HLA-DRB1 HLA-B HLA-A B2M
16	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent	GO:0002480	8.8	HLA-B HLA-A B2M

Molecular functions related to Mental Retardation, Autosomal Dominant 40 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	virus receptor activity	GO:0001618	9.13	HLA-DRB1 DPP4 CXCR4
2	peptide antigen binding	GO:0042605	8.8	HLA-DRB1 HLA-B HLA-A

Sources

Sources for Mental Retardation, Autosomal Dominant 40

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

Mental Retardation, Autosomal Dominant 40 (MRD40)

Aliases & Classifications for Mental Retardation, Autosomal Dominant 40

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 40:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Mental Retardation, Autosomal Dominant 40

Related Diseases for Mental Retardation, Autosomal Dominant 40

Diseases in the Mental Retardation, Autosomal Dominant 20 family:

Diseases related to Mental Retardation, Autosomal Dominant 40 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Mental Retardation, Autosomal Dominant 40:

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 40

Human phenotypes related to Mental Retardation, Autosomal Dominant 40:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 40

Genetic Tests for Mental Retardation, Autosomal Dominant 40

Genetic tests related to Mental Retardation, Autosomal Dominant 40:

Anatomical Context for Mental Retardation, Autosomal Dominant 40

MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 40:

Publications for Mental Retardation, Autosomal Dominant 40

Articles related to Mental Retardation, Autosomal Dominant 40:

Genes for Mental Retardation, Autosomal Dominant 40

Genes related to Mental Retardation, Autosomal Dominant 40 (1 elite genes):

Variations for Mental Retardation, Autosomal Dominant 40

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 40:

Expression for Mental Retardation, Autosomal Dominant 40

Pathways for Mental Retardation, Autosomal Dominant 40

Pathways related to Mental Retardation, Autosomal Dominant 40 according to GeneCards Suite gene sharing:

GO Terms for Mental Retardation, Autosomal Dominant 40

Cellular components related to Mental Retardation, Autosomal Dominant 40 according to GeneCards Suite gene sharing:

Biological processes related to Mental Retardation, Autosomal Dominant 40 according to GeneCards Suite gene sharing:

Molecular functions related to Mental Retardation, Autosomal Dominant 40 according to GeneCards Suite gene sharing:

Sources for Mental Retardation, Autosomal Dominant 40