Xp11.22 Deletion disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Xp11.22 Deletion

MalaCards integrated aliases for Xp11.22 Deletion:

Name: Xp11.22 Deletion ⁷⁶

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Summaries for Xp11.22 Deletion

MalaCards based summary : Xp11.22 Deletion is related to dent disease 1 and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Xp11.22 Deletion is FAM120C (Family With Sequence Similarity 120C).

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Related Diseases for Xp11.22 Deletion

Diseases related to Xp11.22 Deletion via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	dent disease 1	9.9
2	alacrima, achalasia, and mental retardation syndrome	9.9
3	syndromic x-linked intellectual disability	9.9
4	autism	9.9

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Symptoms & Phenotypes for Xp11.22 Deletion

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Drugs & Therapeutics for Xp11.22 Deletion

Search Clinical Trials , NIH Clinical Center for Xp11.22 Deletion

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Genetic Tests for Xp11.22 Deletion

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Anatomical Context for Xp11.22 Deletion

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Publications for Xp11.22 Deletion

Articles related to Xp11.22 Deletion:

#	Title	Authors	Year
1	Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability. ( 28414775 )	Grau C....Scott D.A.	2017
2	Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease. ( 25670966 )	Armanet N....Tosca L.	2015
3	A complex Xp11.22 deletion in a patient with syndromic autism: exploration of FAM120C as a positional candidate gene for autism. ( 25258334 )	De Wolf V....Devriendt K.	2014

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Genes for Xp11.22 Deletion

Genes related to Xp11.22 Deletion (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	FAM120C	Family With Sequence Similarity 120C	Protein Coding	16.91	GeneCards inferred via : Publications (show sections)

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Variations for Xp11.22 Deletion

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Expression for Xp11.22 Deletion

Search GEO for disease gene expression data for Xp11.22 Deletion.

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Pathways for Xp11.22 Deletion

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GO Terms for Xp11.22 Deletion

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Sources for Xp11.22 Deletion

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

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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 HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

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⁴⁴ MeSH

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⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

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⁵⁷ OMIM

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⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

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⁶⁶ Reactome

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⁶⁸ SNOMED-CT

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⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

MCID: XP1003 MIFTS: 6	Xp11.22 Deletion
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