AutismKB 2.0

Annotation Detail for SHOX


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Basic Information Top
Gene Symbol:SHOX ( GCFX,PHOG,SHOXY,SS )
Gene Full Name: short stature homeobox
Band: Xp22.33 and Yp11.32
Quick LinksEntrez ID:6473; OMIM: 312865,400020; Uniprot ID:SHOX_HUMAN; ENSEMBL ID: ENSG00000185960; HGNC ID: 10853
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
2109Turner's syndrome
2115Muscular dystrophies
No data
No data
Desease Name
Leri-Weill dyschondrosteosis
Langer mesomelic dysplasia
Short stature, idiopathic familial
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D002330 Carmustine Carmustine results in decreased expression of SHOX mRNAdecreases expression 15980968
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D001932 Brain Neoplasms Carmustine 4.9616187019
MESH:D005909 Glioblastoma Carmustine 4.2516187019
MESH:C537267 Langer mesomelic dysplasia marker/mechanism
OMIM:127300 LERI-WEILL DYSCHONDROSTEOSIS marker/mechanism
MESH:D008545 Melanoma Carmustine 2.9212393984
OMIM:604271 SHORT STATURE, IDIOPATHIC, AUTOSOMAL marker/mechanism
OMIM:300582 SHORT STATURE, IDIOPATHIC, X-LINKED marker/mechanism
No data
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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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