Disease table of DEAFNESS, AUTOSOMAL RECESSIVE OMIM ID: PS220290
Gene-disease associations table
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Gene Associated with DEAFNESS, AUTOSOMAL RECESSIVE in Link to HGNC Cytogenetic band Number of associated diseases Associated diseases ADCY1 ClinVar, OMIM HGNC link 7p12.3 1 PS220290 ATP2B2 OMIM HGNC link 3p25.3 1 PS220290 CABP2 ClinVar, OMIM HGNC link 11q13.2 1 PS220290 CDH23 ClinVar, OMIM, HUMSAVAR HGNC link 10q22.1 2 PS220290 , PS276900 CIB2 ClinVar, OMIM, HUMSAVAR HGNC link 15q25.1 2 PS220290 , PS276900 CLDN14 ClinVar, OMIM, HUMSAVAR HGNC link 21q22.13 1 PS220290 CLIC5 ClinVar, OMIM HGNC link 6p21.1 1 PS220290 COL11A2 ClinVar, OMIM, HUMSAVAR HGNC link 6p21.32 6 PS108300 , PS220290 , 215150 , 277610 , PS124900 , PS228520 DCDC2 ClinVar, OMIM, HUMSAVAR HGNC link 6p22.3 2 PS220290 , PS256100 DFNB59 ClinVar, OMIM, HUMSAVAR HGNC link 2q31.2 1 PS220290
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Relations among genes:
Tandem repeat annotations from DGD
Cytogenetic band analysis
By sub-band
By band
By region
By arm
By chromosome
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
Interactions from BIOGRID - genetic
Interactions from STRING
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
Interactions from CORUM
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
Interactions from CENSUS
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
Interactions from PDB
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
Interactions from manually curated literature
KEGG pathways annotation: shared terms / NET-GE enrichment
Shared terms
NET-GE enrichment
REACTOME pathways annotation: shared terms / NET-GE enrichment
Shared terms
NET-GE enrichment
GO - molecular function annotation: shared terms / NET-GE enrichment
Shared terms
NET-GE enrichment
GO - biological process annotation: shared terms / NET-GE enrichment
Shared terms
NET-GE enrichment
GO - cellular component annotation: shared terms / NET-GE enrichment
Shared terms
NET-GE enrichment