Disease table of MACULAR DYSTROPHY, PATTERNED OMIM ID: PS169150

Gene-disease associations table

GeneAssociated with MACULAR DYSTROPHY, PATTERNED inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
PRPH2ClinVar, OMIM, HUMSAVARHGNC link6p21.16PS204000, PS268000, PS169150, PS215500, 136880, PS153840
CTNNA1ClinVar, OMIMHGNC link5q31.21PS169150

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
developmental process (GO:0032502) 1.362PRPH2, CTNNA1
anatomical structure development (GO:0048856) 1.582PRPH2, CTNNA1
regulation of cellular process (GO:0050794) 0.52PRPH2, CTNNA1
biological regulation (GO:0065007) 0.392PRPH2, CTNNA1
cell adhesion (GO:0007155) 2.822PRPH2, CTNNA1
biological adhesion (GO:0022610) 2.812PRPH2, CTNNA1
regulation of biological process (GO:0050789) 0.452PRPH2, CTNNA1
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
membrane (GO:0016020) 0.682PRPH2, CTNNA1
cell part (GO:0044464) 0.112PRPH2, CTNNA1
membrane part (GO:0044425) 0.952PRPH2, CTNNA1
cell projection (GO:0042995) 2.472PRPH2, CTNNA1
plasma membrane part (GO:0044459) 1.952PRPH2, CTNNA1
organelle (GO:0043226) 0.42PRPH2, CTNNA1