Disease table of AUDITORY NEUROPATHY OMIM ID: PS609129
Gene-disease associations table
Gene | Associated with AUDITORY NEUROPATHY in | Link to HGNC | Cytogenetic band | Number of associated diseases | Associated diseases |
AIFM1 | ClinVar, OMIM | HGNC link | Xq26.1 | 4 | PS609060, PS304500, PS609129, PS118220 |
OTOF | ClinVar, OMIM, HUMSAVAR | HGNC link | 2p23.3 | 2 | PS609129, PS220290 |
DIAPH3 | ClinVar, OMIM | HGNC link | 13q21.2 | 1 | PS609129 |
Download the disease annotation in CSV format
Relations among genes:
Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Gene1 | Gene2 | Direct Interaction | Number of shared interactors | Shared genes in interaction |
AIFM1 | DIAPH3 | No | 1 | NXF1 |
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
Interactions from BIOGRID - genetic
Interactions from STRING
Gene1 | Gene2 | Direct Interaction | Interaction mode | Number of shared interactors | Shared genes in interaction |
AIFM1 | DIAPH3 | No | - | 1 | UBC |
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
KEGG pathways annotation: shared terms / NET-GE enrichment (no shared terms)
REACTOME pathways annotation: shared terms / NET-GE enrichment (no shared terms)
GO - molecular function annotation: shared terms (no NET-GE enrichment)
Shared terms
GO - biological process annotation: shared terms (no NET-GE enrichment)
Shared terms
GO | IC | Number of genes with the same GO | Genes |
single-organism process (GO:0044699) | 0.48 | 3 | DIAPH3, AIFM1, OTOF |
cellular process (GO:0009987) | 0.26 | 3 | DIAPH3, AIFM1, OTOF |
single-organism cellular process (GO:0044763) | 0.65 | 3 | DIAPH3, AIFM1, OTOF |
cellular component organization (GO:0016043) | 1.24 | 3 | DIAPH3, AIFM1, OTOF |
cellular component organization or biogenesis (GO:0071840) | 1.22 | 3 | DIAPH3, AIFM1, OTOF |
organelle organization (GO:0006996) | 2.02 | 2 | DIAPH3, AIFM1 |
GO - cellular component annotation: shared terms (no NET-GE enrichment)
Shared terms
GO | IC | Number of genes with the same GO | Genes |
cytoplasm (GO:0005737) | 1.01 | 3 | DIAPH3, AIFM1, OTOF |
intracellular membrane-bounded organelle (GO:0043231) | 0.6 | 3 | DIAPH3, AIFM1, OTOF |
cytosol (GO:0005829) | 1.68 | 3 | DIAPH3, AIFM1, OTOF |
cell part (GO:0044464) | 0.11 | 3 | DIAPH3, AIFM1, OTOF |
cytoplasmic part (GO:0044444) | 0.82 | 3 | DIAPH3, AIFM1, OTOF |
intracellular organelle (GO:0043229) | 0.51 | 3 | DIAPH3, AIFM1, OTOF |
intracellular part (GO:0044424) | 0.28 | 3 | DIAPH3, AIFM1, OTOF |
membrane-bounded organelle (GO:0043227) | 0.47 | 3 | DIAPH3, AIFM1, OTOF |
organelle (GO:0043226) | 0.4 | 3 | DIAPH3, AIFM1, OTOF |
organelle membrane (GO:0031090) | 1.97 | 2 | AIFM1, OTOF |
integral component of membrane (GO:0016021) | 1.14 | 2 | AIFM1, OTOF |
membrane (GO:0016020) | 0.68 | 2 | AIFM1, OTOF |
intracellular organelle part (GO:0044446) | 0.81 | 2 | AIFM1, OTOF |
organelle part (GO:0044422) | 0.79 | 2 | AIFM1, OTOF |
membrane part (GO:0044425) | 0.95 | 2 | AIFM1, OTOF |
nucleus (GO:0005634) | 1.07 | 2 | DIAPH3, AIFM1 |
intrinsic component of membrane (GO:0031224) | 1.13 | 2 | AIFM1, OTOF |