Gene table of SHOX : short stature homeobox

Gene-disease associations table

Disease ID	Disease name	Source of annotation with SHOX	OMIM link	Number of associated genes	genes
300582	SHORT STATURE, IDIOPATHIC, X-LINKED	ClinVar, OMIM	link to OMIM	2	SHOX, SHOXY
127300	LERI-WEILL DYSCHONDROSTEOSIS	ClinVar, OMIM, HUMSAVAR	link to OMIM	2	SHOX, SHOXY
249700	LANGER MESOMELIC DYSPLASIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	2	SHOX, SHOXY

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
sequence-specific DNA binding	GO:0043565	2.79
nucleic acid binding	GO:0003676	1.44
transcription factor activity, sequence-specific DNA binding	GO:0003700	2.65
organic cyclic compound binding	GO:0097159	1.05
nucleic acid binding transcription factor activity	GO:0001071	2.65
protein binding	GO:0005515	0.46
DNA binding	GO:0003677	1.92
heterocyclic compound binding	GO:1901363	1.06
binding	GO:0005488	0.18