Gene table of OSTM1 : osteopetrosis associated transmembrane protein 1

Gene-disease associations table

Disease IDDisease nameSource of annotation with OSTM1OMIM linkNumber of associated genesgenes
PS259700OSTEOPETROSIS, AUTOSOMAL RECESSIVEClinVar, OMIM link to OMIM 8TNFRSF11A, TNFSF11, SNX10, PLEKHM1, CA2, CLCN7, OSTM1, TCIRG1

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Annotation of the gene OSTM1

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 pathwayREACTOME IDREACTOME IC
Ion channel transportR-HSA-9837125.34
Transmembrane transport of small moleculesR-HSA-3825513.79
Stimuli-sensing channelsR-HSA-26723516.28
Associated GO terms for Molecular function