Disease table of MACULAR DYSTROPHY, VITELLIFORM OMIM ID: PS153840

Gene-disease associations table

GeneAssociated with MACULAR DYSTROPHY, VITELLIFORM inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
PRPH2ClinVar, OMIM, HUMSAVARHGNC link6p21.16PS204000, PS268000, PS169150, PS215500, 136880, PS153840
BEST1ClinVar, OMIM, HUMSAVARHGNC link11q12.34PS268000, PS153840, 611809, 193220
IMPG2ClinVar, OMIM, HUMSAVARHGNC link3q12.32PS153840, PS268000
IMPG1ClinVar, OMIM, HUMSAVARHGNC link6q14.11PS153840

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
62PRPH2, IMPG1
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
BEST1YES5CRX, OTX2, SOX9, MITF, OTX10
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

Shared terms

GOICNumber of genes with the same GOGenes
extracellular matrix structural constituent (GO:0005201) 5.372IMPG1, IMPG2
structural molecule activity (GO:0005198) 3.12IMPG1, IMPG2

NET-GE enrichment

Term New enriched termICP valueGenes
extracellular matrix structural constituent (GO:0005201) -5.370.006IMPG1, IMPG2
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
multicellular organismal process (GO:0032501) 1.454IMPG1, PRPH2, IMPG2, BEST1
neurological system process (GO:0050877) 2.644IMPG1, PRPH2, IMPG2, BEST1
visual perception (GO:0007601) 4.414IMPG1, PRPH2, IMPG2, BEST1
sensory perception (GO:0007600) 2.934IMPG1, PRPH2, IMPG2, BEST1
sensory perception of light stimulus (GO:0050953) 4.44IMPG1, PRPH2, IMPG2, BEST1
system process (GO:0003008) 2.34IMPG1, PRPH2, IMPG2, BEST1
biological regulation (GO:0065007) 0.392PRPH2, BEST1
regulation of biological process (GO:0050789) 0.452PRPH2, BEST1

NET-GE enrichment

Term New enriched termICP valueGenes
multicellular organismal process (GO:0032501) -1.450.044IMPG1, PRPH2, IMPG2, BEST1
single-multicellular organism process (GO:0044707) NEW1.780.041IMPG1, PRPH2, IMPG2, BEST1
neurological system process (GO:0050877) -2.640.013IMPG1, PRPH2, IMPG2, BEST1
visual perception (GO:0007601) -4.410.0IMPG1, PRPH2, IMPG2, BEST1
sensory perception (GO:0007600) -2.930.0IMPG1, PRPH2, IMPG2, BEST1
sensory perception of light stimulus (GO:0050953) -4.40.0IMPG1, PRPH2, IMPG2, BEST1
system process (GO:0003008) -2.30.001IMPG1, PRPH2, IMPG2, BEST1
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
membrane part (GO:0044425) 0.953PRPH2, IMPG2, BEST1
integral component of membrane (GO:0016021) 1.143PRPH2, IMPG2, BEST1
membrane (GO:0016020) 0.683PRPH2, IMPG2, BEST1
intrinsic component of membrane (GO:0031224) 1.133PRPH2, IMPG2, BEST1
protein complex (GO:0043234) 1.512IMPG2, BEST1
macromolecular complex (GO:0032991) 1.352IMPG2, BEST1
extracellular region part (GO:0044421) 1.572IMPG1, IMPG2
intrinsic component of plasma membrane (GO:0031226) 2.532PRPH2, BEST1
cell part (GO:0044464) 0.112PRPH2, BEST1
extracellular matrix (GO:0031012) 3.812IMPG1, IMPG2
integral component of plasma membrane (GO:0005887) 2.572PRPH2, BEST1
plasma membrane part (GO:0044459) 1.952PRPH2, BEST1
proteinaceous extracellular matrix (GO:0005578) 4.012IMPG1, IMPG2

NET-GE enrichment

Term New enriched termICP valueGenes
proteinaceous extracellular matrix (GO:0005578) -4.010.022IMPG1, IMPG2
extracellular matrix (GO:0031012) -3.810.036IMPG1, IMPG2