Disease table of ATELOSTEOGENESIS OMIM ID: PS108720

Gene-disease associations table

GeneAssociated with ATELOSTEOGENESIS inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
FLNBClinVar, OMIM, HUMSAVARHGNC link3p14.34272460, PS108720, 150250, 112310
SLC26A2ClinVar, OMIM, HUMSAVARHGNC link5q324PS132400, 222600, PS200600, PS108720

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
Interactions from BIOGRID - genetic
Interactions from STRING
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 / NET-GE enrichment (no shared terms)
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
multicellular organismal process (GO:0032501) 1.452SLC26A2, FLNB
single-multicellular organism process (GO:0044707) 1.782SLC26A2, FLNB
cellular process (GO:0009987) 0.262FLNB, SLC26A2
biological regulation (GO:0065007) 0.392SLC26A2, FLNB
single-organism localization (GO:1902578) 2.092FLNB, SLC26A2
single-organism cellular process (GO:0044763) 0.652SLC26A2, FLNB
regulation of biological quality (GO:0065008) 1.682SLC26A2, FLNB
localization (GO:0051179) 1.42FLNB, SLC26A2
single-organism process (GO:0044699) 0.482SLC26A2, FLNB
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
extracellular organelle (GO:0043230) 1.892FLNB, SLC26A2
extracellular exosome (GO:0070062) 1.892SLC26A2, FLNB
extracellular region part (GO:0044421) 1.572SLC26A2, FLNB
integral component of membrane (GO:0016021) 1.142FLNB, SLC26A2
membrane (GO:0016020) 0.682SLC26A2, FLNB
cell part (GO:0044464) 0.112SLC26A2, FLNB
membrane-bounded vesicle (GO:0031988) 1.712FLNB, SLC26A2
plasma membrane (GO:0005886) 1.392FLNB, SLC26A2
membrane part (GO:0044425) 0.952SLC26A2, FLNB
extracellular vesicle (GO:1903561) 1.892SLC26A2, FLNB
membrane-bounded organelle (GO:0043227) 0.472SLC26A2, FLNB
organelle (GO:0043226) 0.42SLC26A2, FLNB
intrinsic component of membrane (GO:0031224) 1.132SLC26A2, FLNB
vesicle (GO:0031982) 1.642SLC26A2, FLNB