MCID: SHX002

Shox-Related Short Stature malady

Genetic diseases, Bone diseases, Fetal diseases, Rare diseases, Endocrine diseases categories

Aliases & Classifications for Shox-Related Short Stature

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Sources:
22GeneTests, 51Orphanet, 28ICD10 via Orphanet
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Summaries for Shox-Related Short Stature

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MalaCards based summary: Shox-Related Short Stature An important gene associated with Shox-Related Short Stature is SHOX (Short Stature Homeobox). Affiliated tissues include bone.

Related Diseases for Shox-Related Short Stature

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Symptoms for Shox-Related Short Stature

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Drugs & Therapeutics for Shox-Related Short Stature

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Shox-Related Short Stature

Genetic Tests for Shox-Related Short Stature

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Genetic tests related to Shox-Related Short Stature:

id Genetic test Affiliating Genes
1 Shox-Related Short Stature22 SHOX

Anatomical Context for Shox-Related Short Stature

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MalaCards organs/tissues related to Shox-Related Short Stature:

33
Bone

Animal Models for Shox-Related Short Stature or affiliated genes

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Publications for Shox-Related Short Stature

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Variations for Shox-Related Short Stature

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Clinvar genetic disease variations for Shox-Related Short Stature:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SHOXNM_000451.3(SHOX): c.-507G> Csingle nucleotide variantPathogenicrs111549748GRCh37Chr X, 585263: 585263
2SHOXNM_000451.3(SHOX): c.-512C> Asingle nucleotide variantPathogenicrs113313554GRCh37Chr X, 585258: 585258
3SHOXNM_000451.3(SHOX): c.-646_-645insTGTinsertionPathogenicrs199946685GRCh37Chr X, 585124: 585125
4SHOXNM_000451.3(SHOX): c.347A> G (p.Lys116Arg)single nucleotide variantLikely pathogenicrs193922466GRCh37Chr X, 595422: 595422
5SHOXSHOX, 47.5-KB DEL, DOWNSTREAM ENHANCERdeletionPathogenic
6SHOXNM_000451.3(SHOX): c.583C> T (p.Arg195Ter)single nucleotide variantPathogenicrs137852552GRCh37Chr X, 601772: 601772

Expression for genes affiliated with Shox-Related Short Stature

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Search GEO for disease gene expression data for Shox-Related Short Stature.

Pathways for genes affiliated with Shox-Related Short Stature

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GO Terms for genes affiliated with Shox-Related Short Stature

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Sources for Shox-Related Short Stature

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet