Disease table of LEBER CONGENITAL AMAUROSIS OMIM ID: PS204000

Gene-disease associations table

GeneAssociated with LEBER CONGENITAL AMAUROSIS inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
KCNJ13ClinVar, OMIM, HUMSAVARHGNC link2q37.12PS204000, 193230
NMNAT1ClinVar, OMIM, HUMSAVARHGNC link1p36.221PS204000
GUCY2DClinVar, OMIM, HUMSAVARHGNC link17p13.12601777, PS204000
RD3ClinVar, OMIMHGNC link1q32.31PS204000
AIPL1ClinVar, OMIM, HUMSAVARHGNC link17p13.21PS204000
ROM1OMIMHGNC link11q12.32PS204000, PS268000
PRPH2ClinVar, OMIM, HUMSAVARHGNC link6p21.16PS204000, PS268000, PS169150, PS215500, 136880, PS153840
CRXClinVar, OMIM, HUMSAVARHGNC link19q13.334PS204000, PS268000, 120970, 153870
TULP1ClinVar, OMIM, HUMSAVARHGNC link6p21.312PS204000, PS268000
CRB1ClinVar, OMIM, HUMSAVARHGNC link1q31.33PS204000, PS268000, 172870
IMPDH1ClinVar, OMIM, HUMSAVARHGNC link7q32.12PS204000, PS268000
LCA5ClinVar, OMIMHGNC link6q14.11PS204000
GDF6ClinVar, OMIM, HUMSAVARHGNC link8q22.14PS300345, PS118100, PS204000, PS251600
RDH12ClinVar, OMIM, HUMSAVARHGNC link14q24.12PS204000, PS268000
RPE65ClinVar, OMIM, HUMSAVARHGNC link1p31.32PS204000, PS268000
RPGRIP1ClinVar, OMIM, HUMSAVARHGNC link14q11.22PS204000, 608194
LRATOMIM, HUMSAVARHGNC link4q32.12PS204000, PS268000
CEP290ClinVar, OMIMHGNC link12q21.325PS249000, PS213300, PS204000, 610189, PS209900
SPATA7ClinVar, OMIMHGNC link14q31.31PS204000

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
17p132AIPL1, GUCY2D
6p212PRPH2, TULP1
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
17p12AIPL1, GUCY2D
6p22PRPH2, TULP1
1q32CRB1, RD3
1p32NMNAT1, RPE65
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
1q2CRB1, RD3
1p2NMNAT1, RPE65
14q3SPATA7, RPGRIP1, RDH12
6p2PRPH2, TULP1
17p2AIPL1, GUCY2D
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
143SPATA7, RPGRIP1, RDH12
172AIPL1, GUCY2D
14NMNAT1, CRB1, RPE65, RD3
63LCA5, PRPH2, TULP1
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
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
NMNAT1RD3No1APP
NMNAT1CRXNo1CCNC
NMNAT1SPATA7No1APP
RD3SPATA7No1APP
CRB1RPE65No1PSMD13
IMPDH1LCA5No1CTPS1
LCA5RPGRIP1No17CSPP1, WDR83, MKL1, HAUS6, SDCCAG3, HAUS8, IFT74, NAP1L4, IPO8, OFD1, GPATCH1, KIF14, NAP1L1, IPO7, CEP131, IPO5, PCM1
LCA5CEP290No29SSBP1, WDR83, SSX2IP, CSPP1, GPATCH1, HAUS3, TCHP, CEP72, YWHAH, HAUS7, MAPRE1, OFD1, SUPT5H, HAUS8, NEDD1, CEP170, CCDC138, LUZP1, FKBP4, PCM1, TBC1D31, KIF14, HAUS6, MED4, PIBF1, WRAP73, KIAA0753, CEP131, CEP162
RDH12LRATNo1NME2P1
RPGRIP1CEP290No9CSPP1, WDR83, HAUS6, HAUS8, KIF14, GPATCH1, OFD1, CEP131, PCM1
RPGRIP1SPATA7No1PTF1A

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
GUCY2DRD3Yesbinding0
GUCY2DCEP290No-1PRKACA
AIPL1CEP290No-1HSP90AA1
IMPDH1RDH12No-1UBC
IMPDH1CEP290No-1UBC
LCA5CEP290No-1NINL
RDH12CEP290No-1UBC

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Retinol metabolismhsa008306.793RPE65, RDH12, LRAT
Metabolic pathwayshsa011002.493RDH12, IMPDH1, NMNAT1
Hippo signaling pathwayhsa043905.372GDF6, CRB1
Purine metabolismhsa002305.282GUCY2D, IMPDH1

NET-GE enrichment

Term New enriched termICP valueGenes
Retinol metabolism (hsa00830) -6.790.001RPE65, LRAT, RDH12
Metabolism of cofactors and vitaminsNEW5.160.001RDH12, RPE65, NMNAT1, LRAT
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Visual phototransductionR-HSA-21873386.444GUCY2D, RPE65, LRAT, RDH12
Signal TransductionR-HSA-1625821.784GUCY2D, RPE65, RDH12, LRAT
The canonical retinoid cycle in rods (twilight vision)R-HSA-24539028.523RPE65, LRAT, RDH12
Retinoid cycle disease eventsR-HSA-24538649.282RDH12, LRAT
MetabolismR-HSA-14307282.342IMPDH1, NMNAT1
Diseases associated with visual transductionR-HSA-24747959.282RDH12, LRAT
DiseaseR-HSA-16436853.332RDH12, LRAT
Diseases of signal transductionR-HSA-56632024.892RDH12, LRAT

NET-GE enrichment

Term New enriched termICP valueGenes
Retinoid cycle disease events (R-HSA-2453864) -9.280.02RDH12, LRAT
Diseases associated with visual transduction (R-HSA-2474795) -9.280.001RDH12, LRAT
Visual phototransduction (R-HSA-2187338) -6.440.0GUCY2D, RPE65, RDH12, LRAT
The canonical retinoid cycle in rods (twilight vision) (R-HSA-2453902) -8.520.0RPE65, LRAT, RDH12
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.1816CRX, GDF6, AIPL1, NMNAT1, TULP1, CEP290, CRB1, RPGRIP1, GUCY2D, RPE65, LCA5, RD3, SPATA7, RDH12, LRAT, IMPDH1
protein binding (GO:0005515) 0.4613CRX, LCA5, GDF6, AIPL1, TULP1, CEP290, CRB1, RPGRIP1, GUCY2D, SPATA7, RD3, RDH12, NMNAT1
catalytic activity (GO:0003824) 1.056RDH12, GUCY2D, RPE65, IMPDH1, LRAT, NMNAT1
small molecule binding (GO:0036094) 1.894GUCY2D, IMPDH1, NMNAT1, LRAT
organic cyclic compound binding (GO:0097159) 1.054CRX, IMPDH1, GUCY2D, NMNAT1
heterocyclic compound binding (GO:1901363) 1.064CRX, IMPDH1, GUCY2D, NMNAT1
ion binding (GO:0043167) 1.364RPE65, IMPDH1, CRB1, LRAT
cation binding (GO:0043169) 1.43RPE65, IMPDH1, CRB1
lipid binding (GO:0008289) 3.263TULP1, RPE65, LRAT
nucleotide binding (GO:0000166) 1.963GUCY2D, IMPDH1, NMNAT1
transferase activity (GO:0016740) 1.953GUCY2D, NMNAT1, LRAT
metal ion binding (GO:0046872) 1.413RPE65, IMPDH1, CRB1
nucleoside phosphate binding (GO:1901265) 1.963GUCY2D, IMPDH1, NMNAT1
oxidoreductase activity (GO:0016491) 3.123RPE65, RDH12, IMPDH1
purine ribonucleoside triphosphate binding (GO:0035639) 2.222GUCY2D, NMNAT1
molecular transducer activity (GO:0060089) 2.322KCNJ13, GUCY2D
macromolecular complex binding (GO:0044877) 2.612TULP1, LCA5
receptor activity (GO:0004872) 2.322KCNJ13, GUCY2D
nucleic acid binding (GO:0003676) 1.442CRX, IMPDH1
DNA binding (GO:0003677) 1.922CRX, IMPDH1
purine nucleoside binding (GO:0001883) 2.222GUCY2D, NMNAT1
nucleoside binding (GO:0001882) 2.212GUCY2D, NMNAT1
phospholipid binding (GO:0005543) 3.912TULP1, RPE65
ribonucleoside binding (GO:0032549) 2.222GUCY2D, NMNAT1
protein complex binding (GO:0032403) 3.092TULP1, LCA5
purine nucleotide binding (GO:0017076) 2.192GUCY2D, NMNAT1
ATP binding (GO:0005524) 2.432GUCY2D, NMNAT1
oxidoreductase activity, acting on CH-OH group of donors (GO:0016614) 4.832RDH12, IMPDH1
oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616) 5.02RDH12, IMPDH1
adenyl nucleotide binding (GO:0030554) 2.42GUCY2D, NMNAT1
carbohydrate derivative binding (GO:0097367) 2.032GUCY2D, NMNAT1
transferase activity, transferring phosphorus-containing groups (GO:0016772) 2.772GUCY2D, NMNAT1
cytoskeletal protein binding (GO:0008092) 3.022CEP290, TULP1
adenyl ribonucleotide binding (GO:0032559) 2.412GUCY2D, NMNAT1
purine ribonucleotide binding (GO:0032555) 2.22GUCY2D, NMNAT1
receptor binding (GO:0005102) 2.432CRX, GDF6
purine ribonucleoside binding (GO:0032550) 2.222GUCY2D, NMNAT1
ribonucleotide binding (GO:0032553) 2.192GUCY2D, NMNAT1
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cellular process (GO:0009987) 0.2615CEP290, CRX, RDH12, AIPL1, GDF6, TULP1, KCNJ13, CRB1, RPGRIP1, GUCY2D, RPE65, NMNAT1, ROM1, LRAT, IMPDH1
single-organism process (GO:0044699) 0.4815CEP290, CRX, GDF6, RDH12, SPATA7, TULP1, KCNJ13, CRB1, RPGRIP1, GUCY2D, RPE65, NMNAT1, ROM1, LRAT, IMPDH1
single-organism cellular process (GO:0044763) 0.6514CEP290, CRX, GDF6, RDH12, TULP1, KCNJ13, CRB1, RPGRIP1, GUCY2D, RPE65, NMNAT1, ROM1, LRAT, IMPDH1
multicellular organismal process (GO:0032501) 1.4513CRX, ROM1, AIPL1, TULP1, LRAT, RDH12, RPGRIP1, GUCY2D, RPE65, SPATA7, RD3, PRPH2, GDF6
neurological system process (GO:0050877) 2.6412CRX, ROM1, AIPL1, TULP1, RDH12, RPGRIP1, GUCY2D, RPE65, SPATA7, RD3, PRPH2, LRAT
response to stimulus (GO:0050896) 1.2212CRX, RDH12, AIPL1, TULP1, SPATA7, RPGRIP1, GUCY2D, RPE65, NMNAT1, RD3, LRAT, IMPDH1
visual perception (GO:0007601) 4.4112CRX, ROM1, AIPL1, TULP1, RDH12, RPGRIP1, GUCY2D, RPE65, SPATA7, RD3, PRPH2, LRAT
sensory perception (GO:0007600) 2.9312CRX, ROM1, AIPL1, TULP1, RDH12, RPGRIP1, GUCY2D, RPE65, SPATA7, RD3, PRPH2, LRAT
sensory perception of light stimulus (GO:0050953) 4.412CRX, ROM1, AIPL1, TULP1, RDH12, RPGRIP1, GUCY2D, RPE65, SPATA7, RD3, PRPH2, LRAT
biological regulation (GO:0065007) 0.3912CEP290, CRX, GDF6, AIPL1, TULP1, KCNJ13, RDH12, GUCY2D, RPE65, ROM1, PRPH2, LRAT
system process (GO:0003008) 2.312CRX, ROM1, AIPL1, TULP1, RDH12, RPGRIP1, GUCY2D, RPE65, SPATA7, RD3, PRPH2, LRAT
developmental process (GO:0032502) 1.3611CRX, RD3, RPGRIP1, TULP1, CEP290, CRB1, RPE65, ROM1, PRPH2, GDF6, IMPDH1
anatomical structure development (GO:0048856) 1.5811CRX, RD3, RPGRIP1, TULP1, CEP290, CRB1, RPE65, ROM1, PRPH2, GDF6, IMPDH1
regulation of biological process (GO:0050789) 0.4511CEP290, CRX, GDF6, AIPL1, TULP1, KCNJ13, GUCY2D, RPE65, ROM1, PRPH2, LRAT
organic substance metabolic process (GO:0071704) 0.639CRX, RDH12, AIPL1, GUCY2D, RPE65, NMNAT1, GDF6, LRAT, IMPDH1
metabolic process (GO:0008152) 0.589CRX, RDH12, AIPL1, GUCY2D, RPE65, NMNAT1, GDF6, LRAT, IMPDH1
cellular metabolic process (GO:0044237) 0.699CRX, RDH12, AIPL1, GUCY2D, RPE65, NMNAT1, GDF6, LRAT, IMPDH1
primary metabolic process (GO:0044238) 0.699CRX, RDH12, AIPL1, GUCY2D, RPE65, NMNAT1, GDF6, LRAT, IMPDH1
single-organism developmental process (GO:0044767) 1.498CRX, GDF6, RPGRIP1, TULP1, CEP290, CRB1, RPE65, ROM1
regulation of cellular process (GO:0050794) 0.58CRX, AIPL1, TULP1, CEP290, GUCY2D, RPE65, GDF6, PRPH2
cellular developmental process (GO:0048869) 1.827CEP290, GDF6, RPGRIP1, TULP1, CRX, CRB1, ROM1
single-organism metabolic process (GO:0044710) 1.636RDH12, GUCY2D, RPE65, IMPDH1, LRAT, NMNAT1
small molecule metabolic process (GO:0044281) 2.386RDH12, GUCY2D, RPE65, IMPDH1, LRAT, NMNAT1
regulation of metabolic process (GO:0019222) 1.026CEP290, GDF6, AIPL1, CRX, RPE65, ROM1
retina development in camera-type eye (GO:0060041) 5.516RPGRIP1, TULP1, RPE65, RD3, PRPH2, IMPDH1
single-multicellular organism process (GO:0044707) 1.785CRX, TULP1, GDF6, SPATA7, RDH12
regulation of macromolecule metabolic process (GO:0060255) 1.085CEP290, CRX, RPE65, GDF6, ROM1
cell development (GO:0048468) 3.285CEP290, GDF6, TULP1, CRB1, RPGRIP1
regulation of gene expression (GO:0010468) 1.375CRX, RPE65, CEP290, GDF6, ROM1
signal transduction (GO:0007165) 1.285RPE65, GUCY2D, PRPH2, AIPL1, GDF6
positive regulation of biological process (GO:0048518) 1.25CEP290, CRX, TULP1, GDF6, LRAT
regulation of biological quality (GO:0065008) 1.685TULP1, LRAT, RPE65, RDH12, AIPL1
localization (GO:0051179) 1.45CEP290, KCNJ13, TULP1, LCA5, SPATA7
protein localization (GO:0008104) 2.364CEP290, TULP1, LCA5, SPATA7
regulation of primary metabolic process (GO:0080090) 1.084CEP290, CRX, AIPL1, GDF6
regulation of transport (GO:0051049) 2.244KCNJ13, TULP1, CEP290, LRAT
regulation of cellular metabolic process (GO:0031323) 1.074CEP290, CRX, AIPL1, GDF6
cellular biosynthetic process (GO:0044249) 1.374CRX, IMPDH1, GUCY2D, NMNAT1
cellular nitrogen compound metabolic process (GO:0034641) 1.224CRX, IMPDH1, GUCY2D, NMNAT1
nitrogen compound metabolic process (GO:0006807) 1.134CRX, IMPDH1, GUCY2D, NMNAT1
cell surface receptor signaling pathway (GO:0007166) 2.094PRPH2, GUCY2D, RPE65, GDF6
anatomical structure morphogenesis (GO:0009653) 2.534CRX, RPE65, CEP290, ROM1
organic cyclic compound biosynthetic process (GO:1901362) 1.664CRX, IMPDH1, GUCY2D, NMNAT1
organic cyclic compound metabolic process (GO:1901360) 1.264CRX, IMPDH1, GUCY2D, NMNAT1
eye photoreceptor cell development (GO:0042462) 6.234CEP290, TULP1, CRB1, RPGRIP1
nucleobase-containing compound metabolic process (GO:0006139) 1.354CRX, IMPDH1, GUCY2D, NMNAT1
regulation of localization (GO:0032879) 1.944KCNJ13, TULP1, CEP290, LRAT
cellular macromolecule metabolic process (GO:0044260) 0.934CRX, AIPL1, GUCY2D, GDF6
macromolecule localization (GO:0033036) 2.344CEP290, TULP1, LCA5, SPATA7
heterocycle biosynthetic process (GO:0018130) 1.74CRX, IMPDH1, GUCY2D, NMNAT1
neuron development (GO:0048666) 4.84CEP290, TULP1, CRB1, RPGRIP1
organic substance biosynthetic process (GO:1901576) 1.344CRX, IMPDH1, GUCY2D, NMNAT1
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.434CEP290, CRX, AIPL1, GDF6
transport (GO:0006810) 1.514KCNJ13, TULP1, CEP290, LCA5
cellular aromatic compound metabolic process (GO:0006725) 1.34CRX, IMPDH1, GUCY2D, NMNAT1
biosynthetic process (GO:0009058) 1.324CRX, IMPDH1, GUCY2D, NMNAT1
photoreceptor cell development (GO:0042461) 6.174CEP290, TULP1, CRB1, RPGRIP1
regulation of nitrogen compound metabolic process (GO:0051171) 1.364CEP290, CRX, AIPL1, GDF6
nucleobase-containing compound biosynthetic process (GO:0034654) 1.724CRX, IMPDH1, GUCY2D, NMNAT1
establishment of localization (GO:0051234) 1.484KCNJ13, TULP1, CEP290, LCA5
heterocycle metabolic process (GO:0046483) 1.314CRX, IMPDH1, GUCY2D, NMNAT1
response to abiotic stimulus (GO:0009628) 2.84TULP1, RPE65, AIPL1, IMPDH1
cellular nitrogen compound biosynthetic process (GO:0044271) 1.594CRX, IMPDH1, GUCY2D, NMNAT1
macromolecule metabolic process (GO:0043170) 0.834CRX, AIPL1, GUCY2D, GDF6
phosphate-containing compound metabolic process (GO:0006796) 2.164GUCY2D, IMPDH1, NMNAT1, GDF6
phosphorus metabolic process (GO:0006793) 2.154GUCY2D, IMPDH1, NMNAT1, GDF6
aromatic compound biosynthetic process (GO:0019438) 1.74CRX, IMPDH1, GUCY2D, NMNAT1
positive regulation of cellular process (GO:0048522) 1.34CRX, TULP1, CEP290, GDF6
detection of external stimulus (GO:0009581) 4.983TULP1, RPE65, AIPL1
positive regulation of metabolic process (GO:0009893) 1.743CRX, CEP290, GDF6
positive regulation of biosynthetic process (GO:0009891) 2.293CRX, CEP290, GDF6
response to radiation (GO:0009314) 3.693TULP1, RPE65, AIPL1
positive regulation of cellular metabolic process (GO:0031325) 1.813CRX, CEP290, GDF6
cell differentiation (GO:0030154) 2.143CRX, ROM1, GDF6
tissue homeostasis (GO:0001894) 4.783TULP1, RPE65, AIPL1
positive regulation of nitrogen compound metabolic process (GO:0051173) 2.293CRX, CEP290, GDF6
homeostatic process (GO:0042592) 2.613TULP1, RPE65, AIPL1
nucleotide biosynthetic process (GO:0009165) 4.493GUCY2D, IMPDH1, NMNAT1
response to light stimulus (GO:0009416) 4.083TULP1, RPE65, AIPL1
enzyme linked receptor protein signaling pathway (GO:0007167) 3.243GUCY2D, RPE65, GDF6
detection of visible light (GO:0009584) 6.233TULP1, RPE65, AIPL1
retinol metabolic process (GO:0042572) 6.293RPE65, RDH12, LRAT
retinoid metabolic process (GO:0001523) 5.253RPE65, RDH12, LRAT
cellular component organization or biogenesis (GO:0071840) 1.223CEP290, TULP1, CRB1
positive regulation of gene expression (GO:0010628) 2.353CRX, CEP290, GDF6
hormone metabolic process (GO:0042445) 4.643RPE65, RDH12, LRAT
single-organism biosynthetic process (GO:0044711) 2.83GUCY2D, IMPDH1, NMNAT1
positive regulation of macromolecule metabolic process (GO:0010604) 1.813CRX, CEP290, GDF6
organophosphate biosynthetic process (GO:0090407) 3.673GUCY2D, IMPDH1, NMNAT1
anatomical structure homeostasis (GO:0060249) 4.253TULP1, RPE65, AIPL1
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.463CRX, CEP290, GDF6
cellular component organization (GO:0016043) 1.243CEP290, TULP1, CRB1
nucleobase-containing small molecule metabolic process (GO:0055086) 3.593GUCY2D, IMPDH1, NMNAT1
positive regulation of transcription, DNA-templated (GO:0045893) 2.563CRX, CEP290, GDF6
regulation of cellular biosynthetic process (GO:0031326) 1.383CRX, CEP290, GDF6
primary alcohol metabolic process (GO:0034308) 5.93RPE65, LRAT, RDH12
diterpenoid metabolic process (GO:0016101) 5.173RPE65, RDH12, LRAT
positive regulation of nucleic acid-templated transcription (GO:1903508) 2.563CRX, CEP290, GDF6
positive regulation of RNA biosynthetic process (GO:1902680) 2.543CRX, CEP290, GDF6
detection of abiotic stimulus (GO:0009582) 4.963TULP1, RPE65, AIPL1
detection of light stimulus (GO:0009583) 5.673TULP1, RPE65, AIPL1
positive regulation of nucleobase-containing compound metabolic process (GO:0045935) 2.353CRX, CEP290, GDF6
lipid metabolic process (GO:0006629) 2.683RPE65, LRAT, RDH12
positive regulation of transport (GO:0051050) 2.93CEP290, TULP1, LRAT
terpenoid metabolic process (GO:0006721) 5.073RPE65, RDH12, LRAT
isoprenoid metabolic process (GO:0006720) 4.893RPE65, LRAT, RDH12
regulation of biosynthetic process (GO:0009889) 1.373CRX, CEP290, GDF6
cellular protein modification process (GO:0006464) 1.793GUCY2D, AIPL1, GDF6
regulation of hormone levels (GO:0010817) 3.563RPE65, LRAT, RDH12
macromolecule modification (GO:0043412) 1.733GUCY2D, AIPL1, GDF6
protein modification process (GO:0036211) 1.793GUCY2D, AIPL1, GDF6
nucleotide metabolic process (GO:0009117) 3.733GUCY2D, IMPDH1, NMNAT1
regulation of nucleic acid-templated transcription (GO:1903506) 1.553CRX, CEP290, GDF6
regulation of RNA biosynthetic process (GO:2001141) 1.553CRX, CEP290, GDF6
detection of stimulus (GO:0051606) 3.223TULP1, RPE65, AIPL1
cellular lipid metabolic process (GO:0044255) 2.923RPE65, LRAT, RDH12
retina homeostasis (GO:0001895) 6.073TULP1, RPE65, AIPL1
cellular protein metabolic process (GO:0044267) 1.633GUCY2D, AIPL1, GDF6
cellular hormone metabolic process (GO:0034754) 5.093RPE65, LRAT, RDH12
oxidation-reduction process (GO:0055114) 2.913RPE65, RDH12, IMPDH1
positive regulation of cellular biosynthetic process (GO:0031328) 2.33CRX, CEP290, GDF6
organonitrogen compound metabolic process (GO:1901564) 2.323GUCY2D, IMPDH1, NMNAT1
organonitrogen compound biosynthetic process (GO:1901566) 2.853GUCY2D, IMPDH1, NMNAT1
response to external stimulus (GO:0009605) 2.553TULP1, RPE65, AIPL1
protein metabolic process (GO:0019538) 1.453GUCY2D, AIPL1, GDF6
regulation of RNA metabolic process (GO:0051252) 1.523CRX, CEP290, GDF6
positive regulation of RNA metabolic process (GO:0051254) 2.513CRX, CEP290, GDF6
alcohol metabolic process (GO:0006066) 4.23RPE65, LRAT, RDH12
regulation of transcription, DNA-templated (GO:0006355) 1.563CRX, CEP290, GDF6
positive regulation of macromolecule biosynthetic process (GO:0010557) 2.393CRX, CEP290, GDF6
regulation of macromolecule biosynthetic process (GO:0010556) 1.433CRX, CEP290, GDF6
nucleoside phosphate biosynthetic process (GO:1901293) 4.473GUCY2D, IMPDH1, NMNAT1
organophosphate metabolic process (GO:0019637) 3.043GUCY2D, IMPDH1, NMNAT1
nucleoside phosphate metabolic process (GO:0006753) 3.713GUCY2D, IMPDH1, NMNAT1
photoreceptor cell maintenance (GO:0045494) 6.173TULP1, RDH12, SPATA7
organic hydroxy compound metabolic process (GO:1901615) 3.843RPE65, LRAT, RDH12
vitamin A metabolic process (GO:0006776) 7.652RPE65, LRAT
detection of light stimulus involved in sensory perception (GO:0050962) 6.842TULP1, RPE65
fat-soluble vitamin metabolic process (GO:0006775) 6.262RPE65, LRAT
regulation of phosphate metabolic process (GO:0019220) 2.352AIPL1, GDF6
cell projection organization (GO:0030030) 3.142CEP290, TULP1
phosphorylation (GO:0016310) 2.632GUCY2D, GDF6
regulation of response to stimulus (GO:0048583) 1.542GUCY2D, GDF6
carboxylic acid metabolic process (GO:0019752) 3.122NMNAT1, LRAT
membrane organization (GO:0061024) 3.042TULP1, CRB1
protein localization to cilium (GO:0061512) 6.432TULP1, SPATA7
protein localization to nonmotile primary cilium (GO:0097499) 7.432TULP1, SPATA7
protein transport (GO:0015031) 2.622CEP290, LCA5
retina morphogenesis in camera-type eye (GO:0060042) 7.432RPE65, ROM1
regulation of signaling (GO:0023051) 1.722GUCY2D, GDF6
regulation of cell differentiation (GO:0045595) 2.422CRX, GDF6
purine-containing compound metabolic process (GO:0072521) 4.02GUCY2D, IMPDH1
detection of light stimulus involved in visual perception (GO:0050908) 6.842TULP1, RPE65
positive regulation of neurogenesis (GO:0050769) 3.772CRX, GDF6
regulation of apoptotic process (GO:0042981) 2.52AIPL1, GDF6
multicellular organism development (GO:0007275) 2.542CRX, GDF6
regulation of neurogenesis (GO:0050767) 3.212CRX, GDF6
regulation of cell communication (GO:0010646) 1.732GUCY2D, GDF6
rhythmic process (GO:0048511) 4.022CRX, RPE65
regulation of signal transduction (GO:0009966) 1.842GUCY2D, GDF6
positive regulation of multicellular organismal process (GO:0051240) 2.492CRX, GDF6
cell adhesion (GO:0007155) 2.822PRPH2, ROM1
regulation of cell development (GO:0060284) 3.012CRX, GDF6
ribonucleotide metabolic process (GO:0009259) 4.112GUCY2D, IMPDH1
regulation of neuron differentiation (GO:0045664) 3.392CRX, GDF6
regulation of programmed cell death (GO:0043067) 2.492AIPL1, GDF6
positive regulation of neuron differentiation (GO:0045666) 3.982CRX, GDF6
positive regulation of cell development (GO:0010720) 3.572CRX, GDF6
organic substance transport (GO:0071702) 2.152CEP290, LCA5
regulation of phosphorus metabolic process (GO:0051174) 2.352AIPL1, GDF6
biological adhesion (GO:0022610) 2.812PRPH2, ROM1
protein phosphorylation (GO:0006468) 2.892GUCY2D, GDF6
vitamin metabolic process (GO:0006766) 4.972RPE65, LRAT
circadian rhythm (GO:0007623) 4.792CRX, RPE65
cell proliferation (GO:0008283) 3.232IMPDH1, RPGRIP1
regulation of developmental process (GO:0050793) 2.12CRX, GDF6
cellular protein localization (GO:0034613) 3.112TULP1, SPATA7
purine ribonucleotide biosynthetic process (GO:0009152) 4.922GUCY2D, IMPDH1
purine ribonucleotide metabolic process (GO:0009150) 4.162GUCY2D, IMPDH1
establishment of protein localization (GO:0045184) 2.532CEP290, LCA5
ribonucleotide biosynthetic process (GO:0009260) 4.822GUCY2D, IMPDH1
single-organism transport (GO:0044765) 2.182KCNJ13, TULP1
single-organism membrane organization (GO:0044802) 3.192TULP1, CRB1
regulation of transcription from RNA polymerase II promoter (GO:0006357) 2.242CRX, GDF6
regulation of multicellular organismal process (GO:0051239) 1.872CRX, GDF6
system development (GO:0048731) 2.922CRX, ROM1
oxoacid metabolic process (GO:0043436) 3.122NMNAT1, LRAT
protein localization to photoreceptor outer segment (GO:1903546) 7.942TULP1, SPATA7
single-organism localization (GO:1902578) 2.092KCNJ13, TULP1
cellular localization (GO:0051641) 2.322TULP1, SPATA7
positive regulation of cell differentiation (GO:0045597) 3.012CRX, GDF6
animal organ development (GO:0048513) 2.532CEP290, RPE65
purine-containing compound biosynthetic process (GO:0072522) 4.792GUCY2D, IMPDH1
organic acid metabolic process (GO:0006082) 3.012NMNAT1, LRAT
positive regulation of developmental process (GO:0051094) 2.772CRX, GDF6
carbohydrate derivative biosynthetic process (GO:1901137) 3.732GUCY2D, IMPDH1
carbohydrate derivative metabolic process (GO:1901135) 3.072GUCY2D, IMPDH1
cellular macromolecule localization (GO:0070727) 3.12TULP1, SPATA7
ribose phosphate biosynthetic process (GO:0046390) 4.792GUCY2D, IMPDH1
response to stress (GO:0006950) 1.82IMPDH1, NMNAT1
ribose phosphate metabolic process (GO:0019693) 4.062GUCY2D, IMPDH1
purine nucleotide metabolic process (GO:0006163) 4.092GUCY2D, IMPDH1
positive regulation of nervous system development (GO:0051962) 3.642CRX, GDF6
regulation of nervous system development (GO:0051960) 3.12CRX, GDF6
regulation of multicellular organismal development (GO:2000026) 2.312CRX, GDF6
purine nucleotide biosynthetic process (GO:0006164) 4.872GUCY2D, IMPDH1
protein localization to organelle (GO:0033365) 3.572TULP1, SPATA7
detection of stimulus involved in sensory perception (GO:0050906) 3.462TULP1, RPE65
regulation of cell death (GO:0010941) 2.432AIPL1, GDF6

NET-GE enrichment

Term New enriched termICP valueGenes
vitamin A metabolic process (GO:0006776) -7.650.012RPE65, LRAT
response to radiation (GO:0009314) -3.690.002AIPL1, RDH12, TULP1, GUCY2D, RPE65, LRAT
multicellular organismal process (GO:0032501) -1.450.0CRX, ROM1, AIPL1, TULP1, LCA5, RPGRIP1, GUCY2D, RPE65, SPATA7, RD3, RDH12, PRPH2, LRAT
response to light stimulus (GO:0009416) -4.080.033CRX, RDH12, AIPL1, TULP1, GUCY2D, RPE65, LRAT
retina development in camera-type eye (GO:0060041) -5.510.0CRX, RPGRIP1, TULP1, CEP290, RD3, PRPH2
retinol metabolic process (GO:0042572) -6.290.01RPE65, LRAT, RDH12
retinoid metabolic process (GO:0001523) -5.250.03RPE65, LRAT, RDH12
eye photoreceptor cell development (GO:0042462) -6.230.0CEP290, CRX, TULP1, CRB1, RPGRIP1
photoreceptor cell development (GO:0042461) -6.170.0CEP290, CRX, TULP1, CRB1, RPGRIP1
retina homeostasis (GO:0001895) -6.070.038TULP1, RPE65, AIPL1
diterpenoid metabolic process (GO:0016101) -5.170.037RPE65, LRAT, RDH12
neuron development (GO:0048666) -4.80.003CEP290, TULP1, CRB1, RPGRIP1
detection of external stimulus (GO:0009581) -4.980.0CRX, RDH12, AIPL1, TULP1, GUCY2D, RPE65, LRAT
detection of abiotic stimulus (GO:0009582) -4.960.001CRX, RDH12, AIPL1, TULP1, GUCY2D, RPE65, LRAT
detection of light stimulus (GO:0009583) -5.670.0CRX, RDH12, AIPL1, TULP1, GUCY2D, RPE65, LRAT
detection of visible light (GO:0009584) -6.230.001AIPL1, RDH12, TULP1, GUCY2D, RPE65, LRAT
neurological system process (GO:0050877) -2.640.0CRX, ROM1, AIPL1, TULP1, CEP290, RDH12, RPGRIP1, GUCY2D, RPE65, SPATA7, RD3, PRPH2, LRAT
visual perception (GO:0007601) -4.410.0CRX, ROM1, AIPL1, TULP1, RDH12, RPGRIP1, GUCY2D, RPE65, SPATA7, RD3, PRPH2, LRAT
sensory perception (GO:0007600) -2.930.0CRX, ROM1, AIPL1, TULP1, CEP290, RDH12, RPGRIP1, GUCY2D, RPE65, SPATA7, RD3, PRPH2, LRAT
sensory perception of light stimulus (GO:0050953) -4.40.0CRX, ROM1, AIPL1, TULP1, RDH12, RPGRIP1, GUCY2D, RPE65, SPATA7, RD3, PRPH2, LRAT
tissue development (GO:0009888) NEW3.270.012CRX, RPGRIP1, TULP1, CEP290, RD3, PRPH2
phototransduction, visible light (GO:0007603) NEW7.530.003GUCY2D, RPE65, AIPL1, LRAT, RDH12
primary alcohol metabolic process (GO:0034308) -5.90.004RPE65, LRAT, RDH12
phototransduction (GO:0007602) NEW5.990.0CRX, RDH12, AIPL1, TULP1, GUCY2D, RPE65, LRAT
cellular hormone metabolic process (GO:0034754) -5.090.046RPE65, RDH12, LRAT
system process (GO:0003008) -2.30.0CRX, ROM1, AIPL1, TULP1, RDH12, RPGRIP1, GUCY2D, RPE65, SPATA7, RD3, PRPH2, LRAT
detection of stimulus (GO:0051606) -3.220.019AIPL1, RDH12, TULP1, GUCY2D, RPE65, LRAT
single-multicellular organism process (GO:0044707) -1.780.0CRX, ROM1, AIPL1, TULP1, LCA5, RPGRIP1, GUCY2D, RPE65, SPATA7, RD3, RDH12, PRPH2, LRAT
photoreceptor cell maintenance (GO:0045494) -6.170.002TULP1, RDH12, LCA5
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cell part (GO:0044464) 0.1117CEP290, KCNJ13, IMPDH1, RDH12, AIPL1, SPATA7, TULP1, CRX, CRB1, RPGRIP1, GUCY2D, RPE65, LCA5, ROM1, PRPH2, LRAT, NMNAT1
organelle (GO:0043226) 0.413CRX, RPGRIP1, AIPL1, SPATA7, TULP1, CEP290, LCA5, RPE65, NMNAT1, ROM1, PRPH2, LRAT, IMPDH1
intracellular part (GO:0044424) 0.2812CRX, RPGRIP1, AIPL1, SPATA7, TULP1, CEP290, LCA5, GUCY2D, RPE65, NMNAT1, LRAT, IMPDH1
membrane (GO:0016020) 0.6810KCNJ13, LRAT, RDH12, TULP1, CEP290, CRB1, GUCY2D, RPE65, ROM1, PRPH2
organelle part (GO:0044422) 0.7910CEP290, LRAT, RPGRIP1, SPATA7, LCA5, GUCY2D, RPE65, NMNAT1, ROM1, IMPDH1
intracellular organelle (GO:0043229) 0.519CEP290, AIPL1, SPATA7, CRX, LCA5, RPE65, NMNAT1, LRAT, IMPDH1
intracellular organelle part (GO:0044446) 0.818CEP290, RPGRIP1, SPATA7, LCA5, GUCY2D, NMNAT1, LRAT, IMPDH1
cytoplasm (GO:0005737) 1.018CEP290, AIPL1, TULP1, LCA5, RPE65, SPATA7, LRAT, IMPDH1
cell projection (GO:0042995) 2.478CEP290, RPGRIP1, SPATA7, TULP1, CRB1, LCA5, ROM1, PRPH2
membrane part (GO:0044425) 0.957KCNJ13, LRAT, RDH12, CRB1, GUCY2D, ROM1, PRPH2
membrane-bounded organelle (GO:0043227) 0.477CEP290, AIPL1, CRX, RPE65, NMNAT1, LRAT, IMPDH1
intracellular membrane-bounded organelle (GO:0043231) 0.67CEP290, AIPL1, CRX, RPE65, NMNAT1, LRAT, IMPDH1
cilium (GO:0005929) 3.897CEP290, RPGRIP1, TULP1, LCA5, SPATA7, ROM1, PRPH2
primary cilium (GO:0072372) 4.646CEP290, RPGRIP1, TULP1, SPATA7, ROM1, PRPH2
integral component of membrane (GO:0016021) 1.146KCNJ13, ROM1, CRB1, GUCY2D, LRAT, PRPH2
cell projection part (GO:0044463) 2.976CEP290, RPGRIP1, TULP1, SPATA7, GUCY2D, ROM1
nonmotile primary cilium (GO:0031513) 5.146CEP290, RPGRIP1, TULP1, SPATA7, ROM1, PRPH2
neuron part (GO:0097458) 2.646RDH12, AIPL1, TULP1, GUCY2D, ROM1, PRPH2
cytoplasmic part (GO:0044444) 0.826CEP290, TULP1, GUCY2D, RPE65, LRAT, IMPDH1
plasma membrane part (GO:0044459) 1.956KCNJ13, RDH12, CRB1, GUCY2D, ROM1, PRPH2
intrinsic component of membrane (GO:0031224) 1.136KCNJ13, ROM1, CRB1, GUCY2D, LRAT, PRPH2
nucleus (GO:0005634) 1.075CEP290, CRX, AIPL1, IMPDH1, NMNAT1
ciliary part (GO:0044441) 4.055ROM1, CEP290, SPATA7, RPGRIP1, GUCY2D
plasma membrane region (GO:0098590) 2.974GUCY2D, RDH12, CRB1, ROM1
cytoskeletal part (GO:0044430) 2.494CEP290, LCA5, SPATA7, RPGRIP1
intrinsic component of plasma membrane (GO:0031226) 2.534KCNJ13, PRPH2, GUCY2D, ROM1
integral component of plasma membrane (GO:0005887) 2.574KCNJ13, PRPH2, GUCY2D, ROM1
cytoskeleton (GO:0005856) 2.553CEP290, LCA5, SPATA7
photoreceptor connecting cilium (GO:0032391) 6.283CEP290, SPATA7, RPGRIP1
organelle membrane (GO:0031090) 1.973GUCY2D, RPE65, ROM1
intracellular non-membrane-bounded organelle (GO:0043232) 1.763CEP290, LCA5, SPATA7
cytosol (GO:0005829) 1.683CEP290, TULP1, IMPDH1
microtubule organizing center (GO:0005815) 3.423CEP290, LCA5, SPATA7
non-membrane-bounded organelle (GO:0043228) 1.763CEP290, LCA5, SPATA7
nuclear part (GO:0044428) 1.553GUCY2D, IMPDH1, NMNAT1
plasma membrane (GO:0005886) 1.393TULP1, RPE65, CRB1
photoreceptor outer segment (GO:0001750) 5.783TULP1, PRPH2, ROM1
extracellular region (GO:0005576) 2.183TULP1, GDF6, CRB1
protein complex (GO:0043234) 1.512GUCY2D, CEP290
macromolecular complex (GO:0032991) 1.352GUCY2D, CEP290
endoplasmic reticulum (GO:0005783) 2.562RPE65, LRAT
ciliary membrane (GO:0060170) 5.432GUCY2D, ROM1
bounding membrane of organelle (GO:0098588) 2.392GUCY2D, ROM1
cell projection membrane (GO:0031253) 4.112GUCY2D, ROM1
nucleoplasm (GO:0005654) 1.892IMPDH1, NMNAT1
photoreceptor inner segment (GO:0001917) 6.252TULP1, AIPL1
axoneme (GO:0005930) 5.532SPATA7, RPGRIP1
cell junction (GO:0030054) 2.752TULP1, IMPDH1

NET-GE enrichment

Term New enriched termICP valueGenes
primary cilium (GO:0072372) -4.640.007GUCY2D, TULP1, CEP290, RPGRIP1
ciliary membrane (GO:0060170) -5.430.019CEP290, GUCY2D, ROM1
ciliary part (GO:0044441) -4.050.004CEP290, GUCY2D, ROM1, RPGRIP1
nonmotile primary cilium (GO:0031513) -5.140.002GUCY2D, TULP1, CEP290, RPGRIP1
neuron part (GO:0097458) -2.640.008CRX, RDH12, AIPL1, TULP1, CEP290, CRB1, GUCY2D, ROM1, NMNAT1
photoreceptor inner segment (GO:0001917) -6.250.02TULP1, AIPL1
cilium (GO:0005929) -3.890.004CEP290, GUCY2D, TULP1, LCA5, RPGRIP1