Gene table of SMAD9 : SMAD family member 9

Gene-disease associations table

Disease IDDisease nameSource of annotation with SMAD9OMIM linkNumber of associated genesgenes
209920BARE LYMPHOCYTE SYNDROME, TYPE IIClinVar link to OMIM 5CIITA, SMAD9, RFXAP, RFX5, RFXANK
PS178600PULMONARY HYPERTENSION, PRIMARYClinVar, OMIM, HUMSAVAR link to OMIM 5SMAD9, KCNK3, KCNA5, CAV1, BMPR2

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Annotation of the gene SMAD9

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
KEGG pathwayKEGG IDKEGG IC
TGF-beta signaling pathwayhsa043506.41
Signaling pathways regulating pluripotency of stem cellshsa045505.6
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Signaling by BMPR-HSA-2014518.46
Signal TransductionR-HSA-1625821.78
Associated GO terms for Molecular function
GO termGO IDGO IC
cation bindingGO:00431691.4
transforming growth factor beta receptor, cytoplasmic mediator activityGO:00050727.44
transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activityGO:00306188.13
signal transducer activityGO:00048712.28
protein bindingGO:00055150.46
transcription factor activity, sequence-specific DNA bindingGO:00037002.65
receptor signaling protein activityGO:00050574.76
organic cyclic compound bindingGO:00971591.05
ion bindingGO:00431671.36
nucleic acid binding transcription factor activityGO:00010712.65
nucleic acid bindingGO:00036761.44
DNA bindingGO:00036771.92
metal ion bindingGO:00468721.41
heterocyclic compound bindingGO:19013631.06
bindingGO:00054880.18