Disease table of MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH FRAGILE SITE FRAXE OMIM ID: 309548

Gene-disease associations table

GeneAssociated with MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH FRAGILE SITE FRAXE inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
SERPINA1ClinVarHGNC link14q32.133309548, 613490, 606963
AFF2ClinVar, OMIMHGNC linkXq281309548

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 (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.182AFF2, SERPINA1
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
multicellular organismal process (GO:0032501) 1.452AFF2, SERPINA1
regulation of primary metabolic process (GO:0080090) 1.082AFF2, SERPINA1
single-multicellular organism process (GO:0044707) 1.782AFF2, SERPINA1
regulation of macromolecule metabolic process (GO:0060255) 1.082AFF2, SERPINA1
cellular process (GO:0009987) 0.262AFF2, SERPINA1
regulation of cellular metabolic process (GO:0031323) 1.072AFF2, SERPINA1
regulation of cellular process (GO:0050794) 0.52AFF2, SERPINA1
biological regulation (GO:0065007) 0.392AFF2, SERPINA1
regulation of metabolic process (GO:0019222) 1.022AFF2, SERPINA1
regulation of biological process (GO:0050789) 0.452AFF2, SERPINA1
single-organism process (GO:0044699) 0.482AFF2, SERPINA1
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
intracellular membrane-bounded organelle (GO:0043231) 0.62AFF2, SERPINA1
cell part (GO:0044464) 0.112AFF2, SERPINA1
intracellular organelle part (GO:0044446) 0.812AFF2, SERPINA1
intracellular organelle (GO:0043229) 0.512AFF2, SERPINA1
intracellular part (GO:0044424) 0.282AFF2, SERPINA1
membrane-bounded organelle (GO:0043227) 0.472AFF2, SERPINA1
organelle (GO:0043226) 0.42AFF2, SERPINA1
organelle part (GO:0044422) 0.792AFF2, SERPINA1