Gene-disease associations table

GeneAssociated with BRITTLE CORNEA SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
PRDM5ClinVar, OMIM, HUMSAVARHGNC link4q272PS229200, 180500
ZNF469ClinVar, OMIMHGNC link16q24.22PS229200, PS148300

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
cation binding (GO:0043169) 1.42PRDM5, ZNF469
organic cyclic compound binding (GO:0097159) 1.052PRDM5, ZNF469
ion binding (GO:0043167) 1.362PRDM5, ZNF469
binding (GO:0005488) 0.182PRDM5, ZNF469
nucleic acid binding (GO:0003676) 1.442PRDM5, ZNF469
DNA binding (GO:0003677) 1.922PRDM5, ZNF469
metal ion binding (GO:0046872) 1.412PRDM5, ZNF469
heterocyclic compound binding (GO:1901363) 1.062PRDM5, ZNF469
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.432PRDM5, ZNF469
regulation of primary metabolic process (GO:0080090) 1.082PRDM5, ZNF469
regulation of metabolic process (GO:0019222) 1.022PRDM5, ZNF469
regulation of cellular biosynthetic process (GO:0031326) 1.382PRDM5, ZNF469
regulation of cellular metabolic process (GO:0031323) 1.072PRDM5, ZNF469
nucleic acid metabolic process (GO:0090304) 1.462PRDM5, ZNF469
cellular biosynthetic process (GO:0044249) 1.372PRDM5, ZNF469
cellular nitrogen compound metabolic process (GO:0034641) 1.222PRDM5, ZNF469
nitrogen compound metabolic process (GO:0006807) 1.132PRDM5, ZNF469
cellular macromolecule biosynthetic process (GO:0034645) 1.662PRDM5, ZNF469
organic cyclic compound biosynthetic process (GO:1901362) 1.662PRDM5, ZNF469
regulation of biological process (GO:0050789) 0.452PRDM5, ZNF469
nucleic acid-templated transcription (GO:0097659) 1.912PRDM5, ZNF469
RNA biosynthetic process (GO:0032774) 1.842PRDM5, ZNF469
organic substance biosynthetic process (GO:1901576) 1.342PRDM5, ZNF469
cellular macromolecule metabolic process (GO:0044260) 0.932PRDM5, ZNF469
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.462PRDM5, ZNF469
organic substance metabolic process (GO:0071704) 0.632PRDM5, ZNF469
biological regulation (GO:0065007) 0.392PRDM5, ZNF469
organic cyclic compound metabolic process (GO:1901360) 1.262PRDM5, ZNF469
regulation of gene expression (GO:0010468) 1.372PRDM5, ZNF469
heterocycle biosynthetic process (GO:0018130) 1.72PRDM5, ZNF469
nucleobase-containing compound metabolic process (GO:0006139) 1.352PRDM5, ZNF469
regulation of macromolecule metabolic process (GO:0060255) 1.082PRDM5, ZNF469
cellular aromatic compound metabolic process (GO:0006725) 1.32PRDM5, ZNF469
cellular process (GO:0009987) 0.262PRDM5, ZNF469
regulation of biosynthetic process (GO:0009889) 1.372PRDM5, ZNF469
regulation of nucleic acid-templated transcription (GO:1903506) 1.552PRDM5, ZNF469
regulation of cellular process (GO:0050794) 0.52PRDM5, ZNF469
biosynthetic process (GO:0009058) 1.322PRDM5, ZNF469
macromolecule biosynthetic process (GO:0009059) 1.612PRDM5, ZNF469
regulation of nitrogen compound metabolic process (GO:0051171) 1.362PRDM5, ZNF469
metabolic process (GO:0008152) 0.582PRDM5, ZNF469
regulation of RNA biosynthetic process (GO:2001141) 1.552PRDM5, ZNF469
nucleobase-containing compound biosynthetic process (GO:0034654) 1.722PRDM5, ZNF469
heterocycle metabolic process (GO:0046483) 1.312PRDM5, ZNF469
RNA metabolic process (GO:0016070) 1.592PRDM5, ZNF469
primary metabolic process (GO:0044238) 0.692PRDM5, ZNF469
cellular nitrogen compound biosynthetic process (GO:0044271) 1.592PRDM5, ZNF469
regulation of RNA metabolic process (GO:0051252) 1.522PRDM5, ZNF469
cellular metabolic process (GO:0044237) 0.692PRDM5, ZNF469
macromolecule metabolic process (GO:0043170) 0.832PRDM5, ZNF469
regulation of transcription, DNA-templated (GO:0006355) 1.562PRDM5, ZNF469
regulation of macromolecule biosynthetic process (GO:0010556) 1.432PRDM5, ZNF469
transcription, DNA-templated (GO:0006351) 1.912PRDM5, ZNF469
aromatic compound biosynthetic process (GO:0019438) 1.72PRDM5, ZNF469
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) 0.62PRDM5, ZNF469
nucleus (GO:0005634) 1.072PRDM5, ZNF469
cell part (GO:0044464) 0.112PRDM5, ZNF469
intracellular organelle (GO:0043229) 0.512PRDM5, ZNF469
intracellular part (GO:0044424) 0.282PRDM5, ZNF469
membrane-bounded organelle (GO:0043227) 0.472PRDM5, ZNF469
organelle (GO:0043226) 0.42PRDM5, ZNF469