MCID: SHX002

Shox-Related Short Stature malady

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

Aliases & Classifications for Shox-Related Short Stature

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Sources:
20GeneTests, 47Orphanet, 26ICD10 via Orphanet
See all sources

Shox-Related Short Stature, Aliases & Descriptions:

Name: Shox-Related Short Stature 20 47


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Fetal diseases, Rare diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

47
shox-related short stature:
Age of onset: Infancy,Neonatal


External Ids:

Orphanet47 314795
ICD10 via Orphanet26 Q87.1

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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Drug clinical trials:

Search ClinicalTrials for Shox-Related Short Stature

Search 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 Stature20 SHOX

Anatomical Context for Shox-Related Short Stature

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

31
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:

6
id Gene Variation Type Significance SNP ID Assembly Location
1SHOXNM_000451.3(SHOX): c.347A> G (p.Lys116Arg)single nucleotide variantLikely pathogenicrs193922466GRCh37Chr X, 595422: 595422
2SHOXSHOX, 47.5-KB DEL, DOWNSTREAM ENHANCERdeletionPathogenic
3SHOXNM_000451.3(SHOX): c.583C> T (p.Arg195Ter)single nucleotide variantPathogenicrs137852552GRCh38Chr X, 641037: 641037

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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Compounds 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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Products for genes affiliated with Shox-Related Short Stature

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Shox-Related Short Stature

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet