Disease table of FAMAILIAL ADENOMATOUS POLYPOSIS OMIM ID: PS175100

Gene-disease associations table

GeneAssociated with FAMAILIAL ADENOMATOUS POLYPOSIS inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
MUTYHClinVar, OMIM, HUMSAVARHGNC link1p34.13132600, 613659, PS175100
APCClinVar, OMIM, HUMSAVARHGNC link5q22.26114550, PS175100, 155255, 135290, 114500, 613659
NTHL1ClinVar, OMIMHGNC link16p13.31PS175100

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
APCYES11PTGS2, NOS2, KLF4, BIRC5, SPP1, DNMT1, AKT1, MYC, AMHR2, ODC1, SGK10
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
APCYES6YY1, USF2, CEBPZ, EZH2, CDX2, USF10
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
MUTYHAPCNo1PCNA
MUTYHNTHL1No2MMS19, RPA1
APCNTHL1No1RPA2

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

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

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Base excision repairhsa034107.62MUTYH, NTHL1

NET-GE enrichment

Term New enriched termICP valueGenes
Base excision repair (hsa03410) -7.60.002MUTYH, NTHL1
Replication and repairNEW5.410.037MUTYH, NTHL1
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
DNA RepairR-HSA-738945.82MUTYH, NTHL1
Base Excision RepairR-HSA-738847.852MUTYH, NTHL1
Resolution of Abasic Sites (AP sites)R-HSA-739337.852MUTYH, NTHL1
Base-Excision Repair, AP Site FormationR-HSA-739299.662MUTYH, NTHL1
Displacement of DNA glycosylase by APEX1R-HSA-1103579.812MUTYH, NTHL1

NET-GE enrichment

Term New enriched termICP valueGenes
Displacement of DNA glycosylase by APEX1 (R-HSA-110357) -9.810.0MUTYH, NTHL1
Resolution of Abasic Sites (AP sites) (R-HSA-73933) -7.850.003MUTYH, NTHL1
DNA Repair (R-HSA-73894) -5.80.037MUTYH, NTHL1
Base Excision Repair (R-HSA-73884) -7.850.003MUTYH, NTHL1
Base-Excision Repair, AP Site Formation (R-HSA-73929) -9.660.0MUTYH, NTHL1
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.183APC, MUTYH, NTHL1
protein binding (GO:0005515) 0.463APC, MUTYH, NTHL1
cation binding (GO:0043169) 1.42MUTYH, NTHL1
metal cluster binding (GO:0051540) 5.552MUTYH, NTHL1
hydrolase activity (GO:0016787) 1.92MUTYH, NTHL1
organic cyclic compound binding (GO:0097159) 1.052MUTYH, NTHL1
DNA N-glycosylase activity (GO:0019104) 7.032MUTYH, NTHL1
hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799) 6.62MUTYH, NTHL1
hydrolase activity, acting on glycosyl bonds (GO:0016798) 4.912MUTYH, NTHL1
ion binding (GO:0043167) 1.362MUTYH, NTHL1
catalytic activity (GO:0003824) 1.052MUTYH, NTHL1
macromolecular complex binding (GO:0044877) 2.612APC, MUTYH
nucleic acid binding (GO:0003676) 1.442MUTYH, NTHL1
DNA binding (GO:0003677) 1.922MUTYH, NTHL1
protein complex binding (GO:0032403) 3.092APC, MUTYH
iron-sulfur cluster binding (GO:0051536) 5.552MUTYH, NTHL1
metal ion binding (GO:0046872) 1.412MUTYH, NTHL1
heterocyclic compound binding (GO:1901363) 1.062MUTYH, NTHL1
4 iron, 4 sulfur cluster binding (GO:0051539) 6.02MUTYH, NTHL1

NET-GE enrichment

Term New enriched termICP valueGenes
4 iron, 4 sulfur cluster binding (GO:0051539) -6.00.001MUTYH, NTHL1
metal cluster binding (GO:0051540) -5.550.002MUTYH, NTHL1
iron-sulfur cluster binding (GO:0051536) -5.550.002MUTYH, NTHL1
hydrolase activity, acting on glycosyl bonds (GO:0016798) -4.910.008MUTYH, NTHL1
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
primary metabolic process (GO:0044238) 0.693APC, MUTYH, NTHL1
cellular response to stimulus (GO:0051716) 1.973APC, MUTYH, NTHL1
cellular response to stress (GO:0033554) 2.513APC, MUTYH, NTHL1
cellular macromolecule metabolic process (GO:0044260) 0.933APC, MUTYH, NTHL1
response to stimulus (GO:0050896) 1.223APC, MUTYH, NTHL1
cellular process (GO:0009987) 0.263APC, MUTYH, NTHL1
cellular metabolic process (GO:0044237) 0.693APC, MUTYH, NTHL1
macromolecule metabolic process (GO:0043170) 0.833APC, MUTYH, NTHL1
cellular response to DNA damage stimulus (GO:0006974) 3.173APC, MUTYH, NTHL1
organic substance metabolic process (GO:0071704) 0.633APC, MUTYH, NTHL1
response to stress (GO:0006950) 1.83APC, MUTYH, NTHL1
metabolic process (GO:0008152) 0.583APC, MUTYH, NTHL1
regulation of response to stimulus (GO:0048583) 1.542APC, NTHL1
nucleic acid metabolic process (GO:0090304) 1.462MUTYH, NTHL1
cellular nitrogen compound metabolic process (GO:0034641) 1.222MUTYH, NTHL1
nitrogen compound metabolic process (GO:0006807) 1.132MUTYH, NTHL1
regulation of biological process (GO:0050789) 0.452APC, NTHL1
organic cyclic compound metabolic process (GO:1901360) 1.262MUTYH, NTHL1
nucleobase-containing compound metabolic process (GO:0006139) 1.352MUTYH, NTHL1
organic substance catabolic process (GO:1901575) 2.452APC, NTHL1
DNA modification (GO:0006304) 5.362MUTYH, NTHL1
cellular component organization or biogenesis (GO:0071840) 1.222APC, NTHL1
cellular component organization (GO:0016043) 1.242APC, NTHL1
biological regulation (GO:0065007) 0.392APC, NTHL1
single-organism process (GO:0044699) 0.482APC, NTHL1
base-excision repair (GO:0006284) 6.122MUTYH, NTHL1
base-excision repair, AP site formation (GO:0006285) 7.432MUTYH, NTHL1
DNA repair (GO:0006281) 3.592MUTYH, NTHL1
cellular aromatic compound metabolic process (GO:0006725) 1.32MUTYH, NTHL1
regulation of cellular process (GO:0050794) 0.52APC, NTHL1
macromolecule modification (GO:0043412) 1.732MUTYH, NTHL1
cellular component disassembly (GO:0022411) 3.522APC, NTHL1
catabolic process (GO:0009056) 2.382APC, NTHL1
heterocycle metabolic process (GO:0046483) 1.312MUTYH, NTHL1
cellular catabolic process (GO:0044248) 2.622APC, NTHL1
DNA metabolic process (GO:0006259) 3.092MUTYH, NTHL1
single-organism cellular process (GO:0044763) 0.652APC, NTHL1

NET-GE enrichment

Term New enriched termICP valueGenes
2-deoxyribonucleotide metabolic process (GO:0009394) NEW6.330.003MUTYH, NTHL1
base-excision repair (GO:0006284) -6.120.006MUTYH, NTHL1
DNA modification (GO:0006304) -5.360.015MUTYH, NTHL1
base-excision repair, AP site formation (GO:0006285) -7.430.0MUTYH, NTHL1
deoxyribose phosphate catabolic process (GO:0046386) NEW6.780.002MUTYH, NTHL1
deoxyribose phosphate metabolic process (GO:0019692) NEW6.260.004MUTYH, NTHL1
cellular response to DNA damage stimulus (GO:0006974) -3.170.017APC, MUTYH, NTHL1
deoxyribonucleotide metabolic process (GO:0009262) NEW6.20.012MUTYH, NTHL1
deoxyribonucleotide catabolic process (GO:0009264) NEW6.840.002MUTYH, NTHL1
DNA catabolic process (GO:0006308) NEW6.360.035MUTYH, NTHL1
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
intracellular organelle part (GO:0044446) 0.813APC, MUTYH, NTHL1
intracellular membrane-bounded organelle (GO:0043231) 0.63APC, MUTYH, NTHL1
nucleus (GO:0005634) 1.073APC, MUTYH, NTHL1
cell part (GO:0044464) 0.113APC, MUTYH, NTHL1
cytoplasmic part (GO:0044444) 0.823APC, MUTYH, NTHL1
nucleoplasm (GO:0005654) 1.893APC, MUTYH, NTHL1
intracellular organelle (GO:0043229) 0.513APC, MUTYH, NTHL1
nuclear part (GO:0044428) 1.553APC, MUTYH, NTHL1
intracellular part (GO:0044424) 0.283APC, MUTYH, NTHL1
membrane-bounded organelle (GO:0043227) 0.473APC, MUTYH, NTHL1
organelle (GO:0043226) 0.43APC, MUTYH, NTHL1
organelle part (GO:0044422) 0.793APC, MUTYH, NTHL1
mitochondrion (GO:0005739) 2.422MUTYH, NTHL1