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

Sources

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 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

Sources

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 frontal fibrosing alopecia and caplan's syndrome. An important gene associated with Mental Retardation, Autosomal Dominant 40 is CHAMP1 (Chromosome Alignment Maintaining Phosphoprotein 1), and among its related pathways/superpathways are Cytokine Signaling in Immune system and PI3K-Akt signaling pathway. Related phenotypes are microcephaly and intellectual disability

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

Sources

Related Diseases for Mental Retardation, Autosomal Dominant 40

Diseases in the Mental Retardation, Autosomal Dominant 7 family:

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

(show top 50) (show all 77)

#	Related Disease	Score	Top Affiliating Genes
1	frontal fibrosing alopecia	10.3	HLA-B HLA-A
2	caplan's syndrome	10.2	HLA-DRB1 HLA-A
3	selective igg deficiency disease	10.2	HLA-B HLA-A
4	colorectal cancer, hereditary nonpolyposis, type 8	10.2	HLA-B HLA-A
5	intermediate uveitis	10.1	HLA-DRB1 HLA-B
6	cystic echinococcosis	10.1	HLA-DRB1 HLA-B
7	pyelitis	10.1	CABIN1 B2M
8	postherpetic neuralgia	10.1	HLA-DRB1 HLA-B HLA-A
9	moyamoya angiopathy	10.1	HLA-DRB1 HLA-B HLA-A
10	nontuberculous mycobacterial lung disease	10.1	HLA-DRB1 HLA-B HLA-A
11	idiopathic bronchiectasis	10.1	HLA-DRB1 HLA-B HLA-A
12	pityriasis rosea	10.1	HLA-DRB1 HLA-B HLA-A
13	red cell aplasia	10.1	HLA-DRB1 HLA-B HLA-A
14	pars planitis	10.1	HLA-DRB1 HLA-B HLA-A
15	paraneoplastic pemphigus	10.0	HLA-DRB1 HLA-B HLA-A
16	alveolar echinococcosis	10.0	HLA-DRB1 HLA-B HLA-A
17	pure red-cell aplasia	10.0	HLA-DRB1 HLA-B HLA-A
18	histoplasmosis	10.0	HLA-DRB1 HLA-B HLA-A
19	acute kidney tubular necrosis	10.0	CABIN1 B2M
20	sympathetic ophthalmia	10.0	HLA-DRB1 CXCL12
21	graft-versus-host disease	10.0	HLA-DRB1 HLA-B HLA-A
22	vogt-koyanagi-harada disease	10.0	HLA-DRB1 HLA-B HLA-A
23	herpes zoster	10.0	HLA-DRB1 HLA-B HLA-A
24	severe cutaneous adverse reaction	10.0	HLA-DRB1 HLA-B HLA-A
25	takayasu arteritis	10.0	HLA-DRB1 HLA-B HLA-A
26	rubella	10.0	HLA-DRB1 HLA-B HLA-A
27	alopecia areata	10.0	HLA-DRB1 HLA-B HLA-A
28	chronic pyelonephritis	10.0	HLA-B HLA-A B2M
29	cytomegalovirus infection	9.9	HLA-B HLA-A B2M
30	graves' disease	9.9	HLA-DRB1 HLA-B HLA-A
31	behcet syndrome	9.9	HLA-DRB1 HLA-B HLA-A
32	panuveitis	9.9	HLA-DRB1 HLA-B
33	waldenstroem's macroglobulinemia	9.9	CXCR4 B2M
34	mucormycosis	9.9	CSF3 CABIN1
35	intraocular lymphoma	9.9	CXCR4 CXCL12
36	stevens-johnson syndrome/toxic epidermal necrolysis	9.8	HLA-B HLA-A CXCR4
37	spherocytosis, type 5	9.8	CXCR4 CXCL12
38	pneumocystosis	9.8	CSF3 CABIN1
39	macroglossia	9.8	CSF3 B2M
40	plasma protein metabolism disease	9.7	CXCR4 B2M
41	celiac disease 1	9.7	HLA-DRB1 HLA-B HLA-A DPP4
42	hemorrhagic cystitis	9.7	HLA-A CSF3 CABIN1
43	acute disseminated encephalomyelitis	9.7	HLA-DRB1 HLA-B CSF3
44	melanoma, uveal	9.7	HLA-B HLA-A CXCR4
45	polyradiculoneuropathy	9.7	HLA-DRB1 CXCR4 CXCL12
46	primary biliary cirrhosis	9.7	HLA-DRB1 HLA-B HLA-A DPP4
47	cytomegalovirus retinitis	9.7	HLA-DRB1 HLA-B HLA-A CXCL12
48	autoimmune disease	9.6	HLA-DRB1 HLA-B HLA-A DPP4
49	aids dementia complex	9.6	CXCR4 CXCL12 B2M
50	meningitis	9.5	HLA-B CXCL12 CSF3

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

Symptoms via clinical synopsis from OMIM:

⁵⁶

Respiratory:
recurrent respiratory infections

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

Skeletal:
joint hypermobility

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

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)

Abdomen Gastrointestinal:
gastroesophageal reflux
feeding difficulties

Head And Neck Ears:
low-set ears

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

Muscle Soft Tissue:
hypotonia

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

Clinical features from OMIM:

616579

MGI Mouse Phenotypes related to Mental Retardation, Autosomal Dominant 40:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hematopoietic system	MP:0005397	9.56	B2M CABIN1 CSF3 CXCL12 CXCR4 DPP4
2	immune system	MP:0005387	9.23	B2M CABIN1 CSF3 CXCL12 CXCR4 DPP4

Sources

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 40

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

Sources

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

Sources

Anatomical Context for Mental Retardation, Autosomal Dominant 40

Sources

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. ⁶ ⁵⁶	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. ⁶ ⁵⁶	Rauch A...Strom TM	23020937	2012

Sources

Genes for Mental Retardation, Autosomal Dominant 40

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

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CHAMP1	Chromosome Alignment Maintaining Phosphoprotein 1	Protein Coding	1018.18	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	23020937 26340335 25533962
2	CABIN1	Calcineurin Binding Protein 1	Protein Coding	5.57	DISEASES inferred ¹⁵
3	HLA-B	Major Histocompatibility Complex, Class I, B	Protein Coding	4.4	DISEASES inferred ¹⁵
4	HLA-DRB1	Major Histocompatibility Complex, Class II, DR Beta 1	Protein Coding	4.17	DISEASES inferred ¹⁵
5	HLA-A	Major Histocompatibility Complex, Class I, A	Protein Coding	4.17	DISEASES inferred ¹⁵
6	DPP4	Dipeptidyl Peptidase 4	Protein Coding	3.71	DISEASES inferred ¹⁵
7	B2M	Beta-2-Microglobulin	Protein Coding	3.64	DISEASES inferred ¹⁵
8	CXCL12	C-X-C Motif Chemokine Ligand 12	Protein Coding	3.63	DISEASES inferred ¹⁵
9	CXCR4	C-X-C Motif Chemokine Receptor 4	Protein Coding	3.58	DISEASES inferred ¹⁵
10	CSF3	Colony Stimulating Factor 3	Protein Coding	3.48	DISEASES inferred ¹⁵
11	NOTCH1	Notch Receptor 1	Protein Coding	3.4	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.661dup (p.Thr221fs)	duplication	Likely pathogenic	827777		13:115089977-115089978	13:114324502-114324503
8	CHAMP1	NM_032436.4(CHAMP1):c.1150C>T (p.Pro384Ser)	SNV	Uncertain significance	592137	rs1430511251	13:115090467-115090467	13:114324992-114324992

Sources

Expression for Mental Retardation, Autosomal Dominant 40

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

Sources

Pathways for Mental Retardation, Autosomal Dominant 40

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

(show all 21)

#	Super pathways	Score	Top Affiliating Genes
1	Cytokine Signaling in Immune system ⁶⁵ Show member pathways Signaling by Interleukins ⁶⁵	13.09	HLA-DRB1 HLA-B HLA-A CSF3 B2M
2	PI3K-Akt signaling pathway ³⁶ Show member pathways Human papillomavirus infection ³⁶	12.73	NOTCH1 HLA-B HLA-A CSF3
3	Measles ³⁶ Show member pathways Epstein-Barr virus infection ³⁶ Influenza A ³⁶	12.57	HLA-DRB1 HLA-B HLA-A B2M
4	Herpes simplex virus 1 infection ³⁶	12.54	HLA-DRB1 HLA-B HLA-A B2M
5	Human cytomegalovirus infection ³⁶ Show member pathways Human immunodeficiency virus 1 infection ³⁶ Kaposi sarcoma-associated herpesvirus infection ³⁶	12.52	HLA-B HLA-A CXCR4 CXCL12 B2M
6	NF-kappaB Signaling ⁴	12.25	CXCR4 CXCL12 CABIN1 B2M
7	Interferon gamma signaling ⁶⁵ Show member pathways Interferon Signaling ⁶⁵ Regulation of IFNG signaling ⁶⁵	12.2	HLA-DRB1 HLA-B HLA-A B2M
8	Endocytosis ³⁶	12.17	HLA-B HLA-A CXCR4
9	Human T-cell leukemia virus 1 infection ³⁶	11.9	HLA-DRB1 HLA-B HLA-A B2M
10	Phagosome ³⁶	11.89	HLA-DRB1 HLA-B HLA-A
11	Cell adhesion molecules (CAMs) ³⁶	11.87	HLA-DRB1 HLA-B HLA-A
12	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
13	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell ⁶⁵	11.8	HLA-B HLA-A B2M
14	IL12-mediated signaling events ¹ Show member pathways Immune response IL-12-induced IFN-gamma production ²²	11.71	HLA-DRB1 HLA-A B2M
15	TCR signaling in naive CD4+ T cells ¹ Show member pathways TCR signaling in naive CD8+ T cells ¹	11.67	HLA-DRB1 HLA-A B2M
16	CXCR4-mediated signaling events ¹	11.43	HLA-DRB1 CXCR4 CXCL12
17	Syndecan-4-mediated signaling events ¹	11.07	CXCR4 CXCL12
18	Cytokines and Inflammatory Response ¹	11.03	HLA-DRB1 CSF3
19	Hematopoietic Stem Cell Differentiation ¹	11.01	NOTCH1 CXCR4 CSF3
20	Amplification and Expansion of Oncogenic Pathways as Metastatic Traits ¹	10.74	NOTCH1 CXCR4
21	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 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular exosome	GO:0070062	9.98	HLA-DRB1 HLA-B HLA-A DPP4 CXCR4 CXCL12
2	Golgi apparatus	GO:0005794	9.91	NOTCH1 HLA-DRB1 HLA-B HLA-A B2M
3	external side of plasma membrane	GO:0009897	9.78	HLA-DRB1 CXCR4 CXCL12 B2M
4	Golgi membrane	GO:0000139	9.77	NOTCH1 HLA-DRB1 HLA-B HLA-A B2M
5	early endosome membrane	GO:0031901	9.67	HLA-B HLA-A B2M
6	recycling endosome membrane	GO:0055038	9.58	HLA-B HLA-A B2M
7	phagocytic vesicle membrane	GO:0030670	9.5	HLA-B HLA-A B2M
8	MHC class I peptide loading complex	GO:0042824	9.46	HLA-A B2M
9	ER to Golgi transport vesicle membrane	GO:0012507	9.46	HLA-DRB1 HLA-B HLA-A B2M
10	integral component of lumenal side of endoplasmic reticulum membrane	GO:0071556	9.43	HLA-DRB1 HLA-B HLA-A
11	cell surface	GO:0009986	9.17	NOTCH1 HLA-DRB1 HLA-B HLA-A DPP4 CXCR4
12	MHC class I protein complex	GO:0042612	9.13	HLA-B HLA-A B2M

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

(show all 24)

#	Name	GO ID	Score	Top Affiliating Genes
1	viral process	GO:0016032	9.9	HLA-B HLA-A CXCR4 CXCL12
2	positive regulation of cell proliferation	GO:0008284	9.88	NOTCH1 DPP4 CXCL12 CSF3
3	axon guidance	GO:0007411	9.79	NOTCH1 CXCR4 CXCL12
4	regulation of immune response	GO:0050776	9.79	HLA-B HLA-A B2M
5	response to hypoxia	GO:0001666	9.74	DPP4 CXCR4 CXCL12
6	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	GO:0002479	9.67	HLA-B HLA-A B2M
7	regulation of calcium ion transport	GO:0051924	9.61	CXCR4 CXCL12
8	antigen processing and presentation	GO:0019882	9.61	HLA-DRB1 HLA-B HLA-A
9	negative regulation of neurogenesis	GO:0050768	9.59	NOTCH1 B2M
10	inflammatory response to antigenic stimulus	GO:0002437	9.58	NOTCH1 HLA-DRB1
11	detection of temperature stimulus involved in sensory perception of pain	GO:0050965	9.56	CXCR4 CXCL12
12	interferon-gamma-mediated signaling pathway	GO:0060333	9.56	HLA-DRB1 HLA-B HLA-A B2M
13	detection of mechanical stimulus involved in sensory perception of pain	GO:0050966	9.55	CXCR4 CXCL12
14	antigen processing and presentation of endogenous peptide antigen via MHC class I	GO:0019885	9.54	HLA-A B2M
15	antigen processing and presentation of peptide antigen via MHC class I	GO:0002474	9.54	HLA-B HLA-A B2M
16	positive regulation of T cell cytokine production	GO:0002726	9.52	HLA-A B2M
17	antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent	GO:0002486	9.51	HLA-B HLA-A
18	positive regulation of T cell mediated cytotoxicity	GO:0001916	9.5	HLA-B HLA-A B2M
19	protection from natural killer cell mediated cytotoxicity	GO:0042270	9.48	HLA-B HLA-A
20	telencephalon cell migration	GO:0022029	9.46	CXCR4 CXCL12
21	response to ultrasound	GO:1990478	9.4	CXCR4 CXCL12
22	detection of bacterium	GO:0016045	9.33	HLA-DRB1 HLA-B HLA-A
23	immune response	GO:0006955	9.23	NOTCH1 HLA-DRB1 HLA-B HLA-A CXCR4 CXCL12
24	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent	GO:0002480	9.13	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	signaling receptor binding	GO:0005102	9.46	HLA-B HLA-A DPP4 CXCL12
2	TAP binding	GO:0046977	8.96	HLA-B HLA-A
3	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 7 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:

MGI Mouse Phenotypes related to Mental Retardation, Autosomal Dominant 40:

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

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