Disease table of STARGARDT DISEASE 1 OMIM ID: 248200

Gene-disease associations table

GeneAssociated with STARGARDT DISEASE 1 inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
ABCA4ClinVar, OMIM, HUMSAVARHGNC link1p22.14248200, PS268000, 604116, PS603075
CNGB3ClinVar, OMIM, HUMSAVARHGNC link8q21.32262300, 248200

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

Shared terms

GOICNumber of genes with the same GOGenes
substrate-specific transporter activity (GO:0022892) 2.722ABCA4, CNGB3
carbohydrate derivative binding (GO:0097367) 2.032ABCA4, CNGB3
transporter activity (GO:0005215) 2.572ABCA4, CNGB3
nucleotide binding (GO:0000166) 1.962ABCA4, CNGB3
small molecule binding (GO:0036094) 1.892ABCA4, CNGB3
ribonucleotide binding (GO:0032553) 2.192ABCA4, CNGB3
transmembrane transporter activity (GO:0022857) 2.822ABCA4, CNGB3
binding (GO:0005488) 0.182ABCA4, CNGB3
organic cyclic compound binding (GO:0097159) 1.052ABCA4, CNGB3
purine ribonucleotide binding (GO:0032555) 2.22ABCA4, CNGB3
purine nucleotide binding (GO:0017076) 2.192ABCA4, CNGB3
heterocyclic compound binding (GO:1901363) 1.062ABCA4, CNGB3
nucleoside phosphate binding (GO:1901265) 1.962ABCA4, CNGB3

NET-GE enrichment

Term New enriched termICP valueGenes
potassium channel activity (GO:0005267) NEW4.940.012ABCA4, CNGB3
potassium ion transmembrane transporter activity (GO:0015079) NEW4.770.016ABCA4, CNGB3
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
multicellular organismal process (GO:0032501) 1.452ABCA4, CNGB3
establishment of localization (GO:0051234) 1.482ABCA4, CNGB3
regulation of cellular process (GO:0050794) 0.52ABCA4, CNGB3
cellular process (GO:0009987) 0.262ABCA4, CNGB3
neurological system process (GO:0050877) 2.642ABCA4, CNGB3
response to stimulus (GO:0050896) 1.222ABCA4, CNGB3
transport (GO:0006810) 1.512ABCA4, CNGB3
visual perception (GO:0007601) 4.412ABCA4, CNGB3
sensory perception (GO:0007600) 2.932ABCA4, CNGB3
sensory perception of light stimulus (GO:0050953) 4.42ABCA4, CNGB3
regulation of biological process (GO:0050789) 0.452ABCA4, CNGB3
single-organism transport (GO:0044765) 2.182ABCA4, CNGB3
biological regulation (GO:0065007) 0.392ABCA4, CNGB3
signal transduction (GO:0007165) 1.282ABCA4, CNGB3
single-organism localization (GO:1902578) 2.092ABCA4, CNGB3
single-organism cellular process (GO:0044763) 0.652ABCA4, CNGB3
transmembrane transport (GO:0055085) 2.722ABCA4, CNGB3
regulation of biological quality (GO:0065008) 1.682ABCA4, CNGB3
localization (GO:0051179) 1.42ABCA4, CNGB3
single-organism process (GO:0044699) 0.482ABCA4, CNGB3
system process (GO:0003008) 2.32ABCA4, CNGB3

NET-GE enrichment

Term New enriched termICP valueGenes
detection of external stimulus (GO:0009581) NEW4.980.012ABCA4, CNGB3
detection of abiotic stimulus (GO:0009582) NEW4.960.012ABCA4, CNGB3
detection of light stimulus (GO:0009583) NEW5.670.006ABCA4, CNGB3
detection of visible light (GO:0009584) NEW6.230.049ABCA4, CNGB3
cellular potassium ion transport (GO:0071804) NEW4.790.026ABCA4, CNGB3
potassium ion transmembrane transport (GO:0071805) NEW4.790.026ABCA4, CNGB3
potassium ion transport (GO:0006813) NEW4.680.035ABCA4, CNGB3
visual perception (GO:0007601) -4.410.015ABCA4, CNGB3
sensory perception of light stimulus (GO:0050953) -4.40.015ABCA4, CNGB3
phototransduction (GO:0007602) NEW5.990.005ABCA4, CNGB3
response to light stimulus (GO:0009416) NEW4.080.042ABCA4, CNGB3
phototransduction, visible light (GO:0007603) NEW7.530.003ABCA4, CNGB3
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
primary cilium (GO:0072372) 4.642ABCA4, CNGB3
plasma membrane part (GO:0044459) 1.952ABCA4, CNGB3
integral component of membrane (GO:0016021) 1.142ABCA4, CNGB3
membrane (GO:0016020) 0.682ABCA4, CNGB3
cell part (GO:0044464) 0.112ABCA4, CNGB3
photoreceptor outer segment (GO:0001750) 5.782ABCA4, CNGB3
nonmotile primary cilium (GO:0031513) 5.142ABCA4, CNGB3
neuron part (GO:0097458) 2.642ABCA4, CNGB3
integral component of plasma membrane (GO:0005887) 2.572ABCA4, CNGB3
cilium (GO:0005929) 3.892ABCA4, CNGB3
membrane part (GO:0044425) 0.952ABCA4, CNGB3
cell projection (GO:0042995) 2.472ABCA4, CNGB3
intrinsic component of plasma membrane (GO:0031226) 2.532ABCA4, CNGB3
organelle (GO:0043226) 0.42ABCA4, CNGB3
intrinsic component of membrane (GO:0031224) 1.132ABCA4, CNGB3

NET-GE enrichment

Term New enriched termICP valueGenes
transmembrane transporter complex (GO:1902495) NEW4.060.032ABCA4, CNGB3
transporter complex (GO:1990351) NEW4.040.033ABCA4, CNGB3