Disease table of MACULAR DYSTROPHY, CONCENTRIC ANNULAR OMIM ID: 153870

Gene-disease associations table

GeneAssociated with MACULAR DYSTROPHY, CONCENTRIC ANNULAR inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
CRXClinVarHGNC link19q13.334PS204000, PS268000, 120970, 153870
MMACHCClinVarHGNC link1p34.12153870, 277400

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
CRXYES5RS1, RHO, NR2E3, RBP3, BEST10
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
CRXYES1TFAP2A0
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
organic cyclic compound binding (GO:0097159) 1.052CRX, MMACHC
binding (GO:0005488) 0.182CRX, MMACHC
protein binding (GO:0005515) 0.462CRX, MMACHC
heterocyclic compound binding (GO:1901363) 1.062CRX, MMACHC
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
organic substance biosynthetic process (GO:1901576) 1.342CRX, MMACHC
cellular nitrogen compound biosynthetic process (GO:0044271) 1.592CRX, MMACHC
organic substance metabolic process (GO:0071704) 0.632CRX, MMACHC
cellular process (GO:0009987) 0.262CRX, MMACHC
cellular aromatic compound metabolic process (GO:0006725) 1.32CRX, MMACHC
biosynthetic process (GO:0009058) 1.322CRX, MMACHC
cellular metabolic process (GO:0044237) 0.692CRX, MMACHC
cellular biosynthetic process (GO:0044249) 1.372CRX, MMACHC
cellular nitrogen compound metabolic process (GO:0034641) 1.222CRX, MMACHC
nitrogen compound metabolic process (GO:0006807) 1.132CRX, MMACHC
single-organism cellular process (GO:0044763) 0.652CRX, MMACHC
single-organism process (GO:0044699) 0.482CRX, MMACHC
metabolic process (GO:0008152) 0.582CRX, MMACHC
aromatic compound biosynthetic process (GO:0019438) 1.72CRX, MMACHC
heterocycle metabolic process (GO:0046483) 1.312CRX, MMACHC
organic cyclic compound biosynthetic process (GO:1901362) 1.662CRX, MMACHC
organic cyclic compound metabolic process (GO:1901360) 1.262CRX, MMACHC
heterocycle biosynthetic process (GO:0018130) 1.72CRX, MMACHC
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) 0.62CRX, MMACHC
cell part (GO:0044464) 0.112CRX, MMACHC
intracellular organelle (GO:0043229) 0.512CRX, MMACHC
intracellular part (GO:0044424) 0.282CRX, MMACHC
membrane-bounded organelle (GO:0043227) 0.472CRX, MMACHC
organelle (GO:0043226) 0.42CRX, MMACHC