MCID: SHX002

Shox-Related Short Stature malady

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

Aliases & Classifications for Shox-Related Short Stature

About this section
Sources:
20GeneTests, 48Orphanet, 26ICD10 via Orphanet
See all sources

Summaries for Shox-Related Short Stature

About this section
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

About this section

Symptoms for Shox-Related Short Stature

About this section

Drugs & Therapeutics for Shox-Related Short Stature

About this section

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

About this section

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

About this section

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

31
Bone

Animal Models for Shox-Related Short Stature or affiliated genes

About this section

Publications for Shox-Related Short Stature

About this section

Variations for Shox-Related Short Stature

About this section

Clinvar genetic disease variations for Shox-Related Short Stature:

5
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

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

Pathways for genes affiliated with Shox-Related Short Stature

About this section

Compounds for genes affiliated with Shox-Related Short Stature

About this section

GO Terms for genes affiliated with Shox-Related Short Stature

About this section

Sources for Shox-Related Short Stature

About this section
2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet