Gene table of OSTM1 : osteopetrosis associated transmembrane protein 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with OSTM1	OMIM link	Number of associated genes	genes
PS259700	OSTEOPETROSIS, AUTOSOMAL RECESSIVE	ClinVar, OMIM	link to OMIM	8	TNFRSF11A, TNFSF11, SNX10, PLEKHM1, CA2, CLCN7, OSTM1, TCIRG1

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

REACTOME pathway	REACTOME ID	REACTOME IC
Ion channel transport	R-HSA-983712	5.34
Transmembrane transport of small molecules	R-HSA-382551	3.79
Stimuli-sensing channels	R-HSA-2672351	6.28

Associated GO terms for Molecular function