Disease table of ATAXIA-TELANGIECTASIA-LIKE DISORDER OMIM ID: PS604391

Gene-disease associations table

GeneAssociated with ATAXIA-TELANGIECTASIA-LIKE DISORDER inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
PCNAClinVar, OMIM, HUMSAVARHGNC link20p12.31PS604391
MRE11AClinVar, OMIM, HUMSAVARHGNC link11q211PS604391

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
PCNAYES15MYC, HOXA1, PRDM1, HDAC1, EZH2, CDX1, RB1, TFDP1, AHR, RFX1, PURA, E2F1, EP300, YY1, ING10
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
PCNAMRE11ANo29MDM2, XRCC6, RPA1, USP4, RECQL5, KAT5, RPA3, RNF8, HIST1H3E, CCNE1, FEN1, MSH2, RFC1, DHX9, RBBP8, RPA2, BRCA1, OBSL1, PRKDC, ATF2, MSH6, EP300, LIG1, HUWE1, RFC4, NTRK1, SLX4, MLH1, CUL7

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

Interactions from BIOGRID - genetic
Interactions from STRING
Interactions from CORUM
Gene1Gene2Direct InteractionComplexesNumber of shared interactorsShared genes in interaction
PCNAMRE11ANo-8MSH2, XRCC6, RFC1, RFC4, MSH6, RFC2, XRCC5, MLH1

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

Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
KEGG pathways annotation: NET-GE enrichment (no shared terms)

NET-GE enrichment

Term New enriched termICP valueGenes
Nucleotide excision repair (hsa03420) NEW7.150.003MRE11A, PCNA
Non-homologous end-joining (hsa03450) NEW8.960.0MRE11A, PCNA
Replication and repairNEW5.410.009MRE11A, PCNA
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Cell CycleR-HSA-16401703.892MRE11A, PCNA
DNA RepairR-HSA-738945.82MRE11A, PCNA

NET-GE enrichment

Term New enriched termICP valueGenes
DNA Repair (R-HSA-73894) -5.80.021MRE11A, PCNA
G2/M Checkpoints (R-HSA-69481) NEW6.460.023MRE11A, PCNA
IRF3-mediated induction of type I IFN (R-HSA-3270619) NEW9.280.001MRE11A, PCNA
Cytosolic sensors of pathogen-associated DNA (R-HSA-1834949) NEW6.940.024MRE11A, PCNA
STING mediated induction of host immune responses (R-HSA-1834941) NEW8.980.001MRE11A, PCNA
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
hydrolase activity (GO:0016787) 1.92MRE11A, PCNA
protein binding (GO:0005515) 0.462MRE11A, PCNA
organic cyclic compound binding (GO:0097159) 1.052MRE11A, PCNA
catalytic activity (GO:0003824) 1.052MRE11A, PCNA
binding (GO:0005488) 0.182MRE11A, PCNA
nucleic acid binding (GO:0003676) 1.442MRE11A, PCNA
DNA binding (GO:0003677) 1.922MRE11A, PCNA
double-stranded DNA binding (GO:0003690) 3.092MRE11A, PCNA
heterocyclic compound binding (GO:1901363) 1.062MRE11A, PCNA

NET-GE enrichment

Term New enriched termICP valueGenes
ATP-dependent helicase activity (GO:0008026) NEW5.120.019MRE11A, PCNA
DNA polymerase activity (GO:0034061) NEW5.930.004MRE11A, PCNA
DNA helicase activity (GO:0003678) NEW5.730.004MRE11A, PCNA
exonuclease activity (GO:0004527) NEW5.330.015MRE11A, PCNA
endodeoxyribonuclease activity (GO:0004520) NEW5.810.004MRE11A, PCNA
DNA-directed DNA polymerase activity (GO:0003887) NEW6.410.002MRE11A, PCNA
single-stranded DNA-dependent ATPase activity (GO:0043142) NEW7.170.0MRE11A, PCNA
3'-5' exonuclease activity (GO:0008408) NEW5.830.005MRE11A, PCNA
DNA-dependent ATPase activity (GO:0008094) NEW5.310.009MRE11A, PCNA
ATP-dependent DNA helicase activity (GO:0004003) NEW6.130.002MRE11A, PCNA
structure-specific DNA binding (GO:0043566) NEW4.980.007MRE11A, PCNA
double-stranded DNA binding (GO:0003690) -3.090.002MRE11A, PCNA
deoxyribonuclease activity (GO:0004536) NEW5.480.01MRE11A, PCNA
endonuclease activity (GO:0004519) NEW4.780.046MRE11A, PCNA
purine NTP-dependent helicase activity (GO:0070035) NEW5.120.019MRE11A, PCNA
damaged DNA binding (GO:0003684) NEW5.580.003MRE11A, PCNA
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
primary metabolic process (GO:0044238) 0.692MRE11A, PCNA
regulation of primary metabolic process (GO:0080090) 1.082MRE11A, PCNA
regulation of metabolic process (GO:0019222) 1.022MRE11A, PCNA
anatomical structure homeostasis (GO:0060249) 4.252MRE11A, PCNA
regulation of response to stimulus (GO:0048583) 1.542MRE11A, PCNA
organic cyclic compound biosynthetic process (GO:1901362) 1.662MRE11A, PCNA
cellular component organization or biogenesis (GO:0071840) 1.222MRE11A, PCNA
cellular response to stimulus (GO:0051716) 1.972MRE11A, PCNA
negative regulation of cell cycle (GO:0045786) 3.672MRE11A, PCNA
positive regulation of macromolecule metabolic process (GO:0010604) 1.812MRE11A, PCNA
animal organ development (GO:0048513) 2.532MRE11A, PCNA
DNA replication (GO:0006260) 4.512MRE11A, PCNA
positive regulation of molecular function (GO:0044093) 2.232MRE11A, PCNA
positive regulation of biological process (GO:0048518) 1.22MRE11A, PCNA
negative regulation of biological process (GO:0048519) 1.332MRE11A, PCNA
positive regulation of DNA metabolic process (GO:0051054) 4.492MRE11A, PCNA
regulation of DNA metabolic process (GO:0051052) 3.872MRE11A, PCNA
DNA repair (GO:0006281) 3.592MRE11A, PCNA
regulation of macromolecule metabolic process (GO:0060255) 1.082MRE11A, PCNA
heterocycle metabolic process (GO:0046483) 1.312MRE11A, PCNA
regulation of DNA replication (GO:0006275) 5.022MRE11A, PCNA
cellular response to stress (GO:0033554) 2.512MRE11A, PCNA
aromatic compound biosynthetic process (GO:0019438) 1.72MRE11A, PCNA
positive regulation of metabolic process (GO:0009893) 1.742MRE11A, PCNA
nitrogen compound metabolic process (GO:0006807) 1.132MRE11A, PCNA
regulation of biological process (GO:0050789) 0.452MRE11A, PCNA
organic substance biosynthetic process (GO:1901576) 1.342MRE11A, PCNA
regulation of mitotic cell cycle (GO:0007346) 3.712MRE11A, PCNA
cellular macromolecule metabolic process (GO:0044260) 0.932MRE11A, PCNA
cellular component organization (GO:0016043) 1.242MRE11A, PCNA
biological regulation (GO:0065007) 0.392MRE11A, PCNA
organic cyclic compound metabolic process (GO:1901360) 1.262MRE11A, PCNA
regulation of molecular function (GO:0065009) 1.782MRE11A, PCNA
regulation of biological quality (GO:0065008) 1.682MRE11A, PCNA
heterocycle biosynthetic process (GO:0018130) 1.72MRE11A, PCNA
regulation of catalytic activity (GO:0050790) 1.972MRE11A, PCNA
regulation of biosynthetic process (GO:0009889) 1.372MRE11A, PCNA
regulation of cellular process (GO:0050794) 0.52MRE11A, PCNA
regulation of cell cycle phase transition (GO:1901987) 4.152MRE11A, PCNA
response to stress (GO:0006950) 1.82MRE11A, PCNA
metabolic process (GO:0008152) 0.582MRE11A, PCNA
nucleobase-containing compound biosynthetic process (GO:0034654) 1.722MRE11A, PCNA
negative regulation of cell cycle phase transition (GO:1901988) 4.742MRE11A, PCNA
cellular nitrogen compound biosynthetic process (GO:0044271) 1.592MRE11A, PCNA
response to stimulus (GO:0050896) 1.222MRE11A, PCNA
DNA synthesis involved in DNA repair (GO:0000731) 5.422MRE11A, PCNA
regulation of macromolecule biosynthetic process (GO:0010556) 1.432MRE11A, PCNA
cellular biosynthetic process (GO:0044249) 1.372MRE11A, PCNA
cellular nitrogen compound metabolic process (GO:0034641) 1.222MRE11A, PCNA
negative regulation of mitotic cell cycle phase transition (GO:1901991) 4.822MRE11A, PCNA
regulation of mitotic cell cycle phase transition (GO:1901990) 4.232MRE11A, PCNA
cellular macromolecule biosynthetic process (GO:0034645) 1.662MRE11A, PCNA
positive regulation of catalytic activity (GO:0043085) 2.42MRE11A, PCNA
telomere maintenance (GO:0000723) 5.372MRE11A, PCNA
nucleobase-containing compound metabolic process (GO:0006139) 1.352MRE11A, PCNA
regulation of cell cycle process (GO:0010564) 3.52MRE11A, PCNA
DNA strand elongation (GO:0022616) 6.512MRE11A, PCNA
developmental process (GO:0032502) 1.362MRE11A, PCNA
DNA recombination (GO:0006310) 4.392MRE11A, PCNA
cell proliferation (GO:0008283) 3.232MRE11A, PCNA
cellular process (GO:0009987) 0.262MRE11A, PCNA
cellular aromatic compound metabolic process (GO:0006725) 1.32MRE11A, PCNA
cellular response to DNA damage stimulus (GO:0006974) 3.172MRE11A, PCNA
nucleic acid metabolic process (GO:0090304) 1.462MRE11A, PCNA
single-organism process (GO:0044699) 0.482MRE11A, PCNA
macromolecule metabolic process (GO:0043170) 0.832MRE11A, PCNA
DNA biosynthetic process (GO:0071897) 4.892MRE11A, PCNA
regulation of cellular biosynthetic process (GO:0031326) 1.382MRE11A, PCNA
positive regulation of cellular metabolic process (GO:0031325) 1.812MRE11A, PCNA
regulation of cellular metabolic process (GO:0031323) 1.072MRE11A, PCNA
mitotic cell cycle process (GO:1903047) 3.122MRE11A, PCNA
homeostatic process (GO:0042592) 2.612MRE11A, PCNA
nucleic acid phosphodiester bond hydrolysis (GO:0090305) 4.122MRE11A, PCNA
negative regulation of cell cycle process (GO:0010948) 4.372MRE11A, PCNA
cell cycle process (GO:0022402) 2.752MRE11A, PCNA
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.462MRE11A, PCNA
organic substance metabolic process (GO:0071704) 0.632MRE11A, PCNA
negative regulation of mitotic cell cycle (GO:0045930) 4.452MRE11A, PCNA
positive regulation of nucleobase-containing compound metabolic process (GO:0045935) 2.352MRE11A, PCNA
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.432MRE11A, PCNA
single-organism developmental process (GO:0044767) 1.492MRE11A, PCNA
biosynthetic process (GO:0009058) 1.322MRE11A, PCNA
macromolecule biosynthetic process (GO:0009059) 1.612MRE11A, PCNA
single-organism cellular process (GO:0044763) 0.652MRE11A, PCNA
regulation of nitrogen compound metabolic process (GO:0051171) 1.362MRE11A, PCNA
positive regulation of nitrogen compound metabolic process (GO:0051173) 2.292MRE11A, PCNA
organelle organization (GO:0006996) 2.022MRE11A, PCNA
heart development (GO:0007507) 4.242MRE11A, PCNA
chromosome organization (GO:0051276) 3.792MRE11A, PCNA
regulation of cell cycle (GO:0051726) 2.932MRE11A, PCNA
anatomical structure development (GO:0048856) 1.582MRE11A, PCNA
telomere organization (GO:0032200) 5.332MRE11A, PCNA
cellular metabolic process (GO:0044237) 0.692MRE11A, PCNA
DNA metabolic process (GO:0006259) 3.092MRE11A, PCNA
negative regulation of cellular process (GO:0048523) 1.412MRE11A, PCNA
positive regulation of cellular process (GO:0048522) 1.32MRE11A, PCNA

NET-GE enrichment

Term New enriched termICP valueGenes
telomere maintenance (GO:0000723) -5.370.003MRE11A, PCNA
DNA geometric change (GO:0032392) NEW5.310.046MRE11A, PCNA
base-excision repair (GO:0006284) NEW6.120.001MRE11A, PCNA
regulation of DNA metabolic process (GO:0051052) -3.870.045MRE11A, PCNA
anatomical structure homeostasis (GO:0060249) -4.250.029MRE11A, PCNA
DNA duplex unwinding (GO:0032508) NEW5.370.032MRE11A, PCNA
response to gamma radiation (GO:0010332) NEW5.780.03MRE11A, PCNA
DNA recombination (GO:0006310) -4.390.027MRE11A, PCNA
telomere organization (GO:0032200) -5.330.039MRE11A, PCNA
regulation of DNA replication (GO:0006275) -5.020.009MRE11A, PCNA
DNA strand elongation (GO:0022616) -6.510.006MRE11A, PCNA
chromosome organization (GO:0051276) -3.790.029MRE11A, PCNA
DNA-dependent DNA replication (GO:0006261) NEW6.290.021MRE11A, PCNA
negative regulation of DNA replication (GO:0008156) NEW6.170.022MRE11A, PCNA
nucleotide-excision repair (GO:0006289) NEW5.050.043MRE11A, PCNA
spindle assembly (GO:0051225) NEW5.570.024MRE11A, PCNA
telomere maintenance via telomere lengthening (GO:0010833) NEW6.640.001MRE11A, PCNA
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
protein complex (GO:0043234) 1.512MRE11A, PCNA
nucleoplasm (GO:0005654) 1.892MRE11A, PCNA
macromolecular complex (GO:0032991) 1.352MRE11A, PCNA
intracellular membrane-bounded organelle (GO:0043231) 0.62MRE11A, PCNA
intracellular non-membrane-bounded organelle (GO:0043232) 1.762MRE11A, PCNA
nucleus (GO:0005634) 1.072MRE11A, PCNA
cell part (GO:0044464) 0.112MRE11A, PCNA
intracellular organelle part (GO:0044446) 0.812MRE11A, PCNA
chromosome, telomeric region (GO:0000781) 4.92MRE11A, PCNA
nuclear chromosome part (GO:0044454) 3.672MRE11A, PCNA
intracellular organelle (GO:0043229) 0.512MRE11A, PCNA
non-membrane-bounded organelle (GO:0043228) 1.762MRE11A, PCNA
nuclear part (GO:0044428) 1.552MRE11A, PCNA
nuclear chromosome, telomeric region (GO:0000784) 5.162MRE11A, PCNA
intracellular part (GO:0044424) 0.282MRE11A, PCNA
chromosomal part (GO:0044427) 3.182MRE11A, PCNA
membrane-bounded organelle (GO:0043227) 0.472MRE11A, PCNA
organelle (GO:0043226) 0.42MRE11A, PCNA
chromosomal region (GO:0098687) 4.192MRE11A, PCNA
organelle part (GO:0044422) 0.792MRE11A, PCNA

NET-GE enrichment

Term New enriched termICP valueGenes
chromosome, telomeric region (GO:0000781) -4.90.002MRE11A, PCNA
DNA repair complex (GO:1990391) NEW6.140.0MRE11A, PCNA
chromosomal part (GO:0044427) -3.180.043MRE11A, PCNA
chromosomal region (GO:0098687) -4.190.002MRE11A, PCNA