Non-Syndromic X-Linked Intellectual Disability 41 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Non-Syndromic X-Linked Intellectual Disability 41

MalaCards integrated aliases for Non-Syndromic X-Linked Intellectual Disability 41:

Name: Non-Syndromic X-Linked Intellectual Disability 41 ¹²

Mental Retardation, X-Linked 48 ⁶

X-Linked Mental Retardation 48 ¹²

Mrx41 ¹²

Mrx48 ¹²

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0112058

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Summaries for Non-Syndromic X-Linked Intellectual Disability 41

Disease Ontology : ¹² A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has material basis in heterozygous mutation in GDI1 on chromosome Xq28.

MalaCards based summary : Non-Syndromic X-Linked Intellectual Disability 41, also known as mental retardation, x-linked 48, is related to non-syndromic x-linked intellectual disability. An important gene associated with Non-Syndromic X-Linked Intellectual Disability 41 is GDI1 (GDP Dissociation Inhibitor 1).

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Related Diseases for Non-Syndromic X-Linked Intellectual Disability 41

Diseases in the Non-Syndromic X-Linked Intellectual Disability family:

Non-Syndromic X-Linked Intellectual Disability 2	Non-Syndromic X-Linked Intellectual Disability 19
Non-Syndromic X-Linked Intellectual Disability 20	Non-Syndromic X-Linked Intellectual Disability 58
Non-Syndromic X-Linked Intellectual Disability 14	Non-Syndromic X-Linked Intellectual Disability 45
Non-Syndromic X-Linked Intellectual Disability 84	Non-Syndromic X-Linked Intellectual Disability 89
Non-Syndromic X-Linked Intellectual Disability 81	Non-Syndromic X-Linked Intellectual Disability 9
Non-Syndromic X-Linked Intellectual Disability 1	Non-Syndromic X-Linked Intellectual Disability 77
Non-Syndromic X-Linked Intellectual Disability 90	Non-Syndromic X-Linked Intellectual Disability 91
Non-Syndromic X-Linked Intellectual Disability 93	Non-Syndromic X-Linked Intellectual Disability 63
Non-Syndromic X-Linked Intellectual Disability 30	Non-Syndromic X-Linked Intellectual Disability 82
Non-Syndromic X-Linked Intellectual Disability 88	Non-Syndromic X-Linked Intellectual Disability 46
Non-Syndromic X-Linked Intellectual Disability 41	Non-Syndromic X-Linked Intellectual Disability 72

Diseases related to Non-Syndromic X-Linked Intellectual Disability 41 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	non-syndromic x-linked intellectual disability	10.0

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Symptoms & Phenotypes for Non-Syndromic X-Linked Intellectual Disability 41

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Drugs & Therapeutics for Non-Syndromic X-Linked Intellectual Disability 41

Search Clinical Trials , NIH Clinical Center for Non-Syndromic X-Linked Intellectual Disability 41

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Genetic Tests for Non-Syndromic X-Linked Intellectual Disability 41

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Anatomical Context for Non-Syndromic X-Linked Intellectual Disability 41

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Publications for Non-Syndromic X-Linked Intellectual Disability 41

Articles related to Non-Syndromic X-Linked Intellectual Disability 41:

#	Title	Authors	PMID	Year
1	Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor. ⁶¹ ⁶	Bienvenu T...Chelly J	9668174	1998
2	A gene for dominant nonspecific X-linked mental retardation is located in Xq28. ⁶¹ ⁶	des Portes V...Chelly J	9106537	1997
3	Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability. ⁶	Strobl-Wildemann G...Tzschach A	22002931	2011
4	Mutations in GDI1 are responsible for X-linked non-specific mental retardation. ⁶	D'Adamo P...Toniolo D	9620768	1998
5	A gene for nonspecific X-linked mental retardation (MRX41) is located in the distal segment of Xq28. ⁶	Hamel BC...Mariman EC	8826463	1996
6	X-linked nonspecific mental retardation (MRX16) mapping to distal Xq28: linkage study and neuropsychological data in a large family. ⁶¹	Gendrot C...Moraine C	10232754	1999

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Genes for Non-Syndromic X-Linked Intellectual Disability 41

Genes related to Non-Syndromic X-Linked Intellectual Disability 41 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	GDI1	GDP Dissociation Inhibitor 1	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶	22002931 9668174 9106537 (more) 9620768 8826463

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Variations for Non-Syndromic X-Linked Intellectual Disability 41

ClinVar genetic disease variations for Non-Syndromic X-Linked Intellectual Disability 41:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	GDI1	NM_001493.3(GDI1):c.275T>C (p.Leu92Pro)	SNV	Pathogenic	11626	rs121434607	X:153667373-153667373	X:154439027-154439027
2	GDI1	NM_001493.3(GDI1):c.208C>T (p.Arg70Ter)	SNV	Pathogenic	11627	rs121434608	X:153667165-153667165	X:154438819-154438819
3	GDI1	NM_001493.3(GDI1):c.1268G>C (p.Arg423Pro)	SNV	Pathogenic	11628	rs121434609	X:153670943-153670943	X:154442596-154442596
4	GDI1	NM_001493.3(GDI1):c.1184_1185AG[1] (p.Ser396fs)	Microsatellite	Pathogenic	29933	rs398122814	X:153670767-153670768	X:154442420-154442421
5	GDI1	NM_001493.3(GDI1):c.1060_1064del (p.Ser354fs)	Deletion	Pathogenic	975399		X:153670525-153670529	X:154442178-154442182
6	GDI1	NM_001493.3(GDI1):c.1173_1174insACATGAT (p.Asp392delinsThrTer)	Insertion	Pathogenic	976430		X:153670753-153670754	X:154442406-154442407
7	GDI1	NM_001493.3(GDI1):c.788del (p.Gly263fs)	Deletion	Likely pathogenic	976035		X:153669510-153669510	X:154441163-154441163
8	GDI1	NM_001493.3(GDI1):c.1283C>T (p.Ala428Val)	SNV	Uncertain significance	423705	rs1064796588	X:153670958-153670958	X:154442611-154442611

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Expression for Non-Syndromic X-Linked Intellectual Disability 41

Search GEO for disease gene expression data for Non-Syndromic X-Linked Intellectual Disability 41.

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Pathways for Non-Syndromic X-Linked Intellectual Disability 41

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GO Terms for Non-Syndromic X-Linked Intellectual Disability 41

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Sources for Non-Syndromic X-Linked Intellectual Disability 41

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⁷⁴ Wikipedia

Non-Syndromic X-Linked Intellectual Disability 41 (MRX41)

Aliases & Classifications for Non-Syndromic X-Linked Intellectual Disability 41

MalaCards integrated aliases for Non-Syndromic X-Linked Intellectual Disability 41:

Classifications:

External Ids:

Summaries for Non-Syndromic X-Linked Intellectual Disability 41

Related Diseases for Non-Syndromic X-Linked Intellectual Disability 41

Diseases in the Non-Syndromic X-Linked Intellectual Disability family:

Diseases related to Non-Syndromic X-Linked Intellectual Disability 41 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Non-Syndromic X-Linked Intellectual Disability 41

Drugs & Therapeutics for Non-Syndromic X-Linked Intellectual Disability 41

Genetic Tests for Non-Syndromic X-Linked Intellectual Disability 41

Anatomical Context for Non-Syndromic X-Linked Intellectual Disability 41

Publications for Non-Syndromic X-Linked Intellectual Disability 41

Articles related to Non-Syndromic X-Linked Intellectual Disability 41:

Genes for Non-Syndromic X-Linked Intellectual Disability 41

Genes related to Non-Syndromic X-Linked Intellectual Disability 41 (1 elite genes):

Variations for Non-Syndromic X-Linked Intellectual Disability 41

ClinVar genetic disease variations for Non-Syndromic X-Linked Intellectual Disability 41:

Expression for Non-Syndromic X-Linked Intellectual Disability 41

Pathways for Non-Syndromic X-Linked Intellectual Disability 41

GO Terms for Non-Syndromic X-Linked Intellectual Disability 41

Sources for Non-Syndromic X-Linked Intellectual Disability 41