Disease table of FOVEAL HYPOPLASIA OMIM ID: PS136520

Gene-disease associations table

GeneAssociated with FOVEAL HYPOPLASIA inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
PAX6ClinVar, OMIM, HUMSAVARHGNC link11p138148190, 120200, 106210, 206700, 604229, 120430, PS136520, 165550
SLC38A8ClinVar, OMIM, HUMSAVARHGNC link16q23.31PS136520

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
PAX6YES12FABP7, PROX1, GCK, ITGB1, SIX3, MET, PCSK1, PDHX, ITGA5, MMP2, KRT12, GCG0
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
PAX6YES7SP1, CTCF, OTX2, SOX2, TFCP2, FOXA2, SIRT10
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
single-organism localization (GO:1902578) 2.092SLC38A8, PAX6
establishment of localization (GO:0051234) 1.482SLC38A8, PAX6
localization (GO:0051179) 1.42SLC38A8, PAX6
single-organism process (GO:0044699) 0.482SLC38A8, PAX6
GO - cellular component annotation: shared terms / NET-GE enrichment (no shared terms)