Disease table of PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED OMIM ID: PS614742

Gene-disease associations table

GeneAssociated with PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
PARNClinVar, OMIM, HUMSAVARHGNC link16p13.122PS614742, PS127550
RTEL1ClinVar, OMIM, HUMSAVARHGNC link20q13.333PS614742, 178500, PS127550
TERCClinVar, OMIMHGNC link3q26.23PS614742, 178500, PS127550
TERTClinVar, OMIM, HUMSAVARHGNC link5p15.335PS127550, 601626, 178500, PS155600, PS614742

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
TERTYES30CTCF, MZF1, ETS2, MXD1, USF2, SP1, ID2, TAL1, SMAD3, DNMT1, E2F1, WT1, ESR2, HDAC1, JUN, TP53, RELA, NFKB1, TP73, ETS1, HIF1A, STAT3, MEN1, NFATC2, FLI1, USF1, ESR1, MYC, PITX1, MYCN0
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
RTEL1TERTNo1XRCC5
TERCTERTYes3RUVBL1, RUVBL2, DKC1

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
PARNTERTNo-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 (no shared terms)
REACTOME pathways annotation: shared terms / NET-GE enrichment (no shared terms)
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cation binding (GO:0043169) 1.43RTEL1, TERT, PARN
protein binding (GO:0005515) 0.463RTEL1, TERT, PARN
organic cyclic compound binding (GO:0097159) 1.053RTEL1, TERT, PARN
ion binding (GO:0043167) 1.363RTEL1, TERT, PARN
catalytic activity (GO:0003824) 1.053RTEL1, TERT, PARN
binding (GO:0005488) 0.183RTEL1, TERT, PARN
nucleic acid binding (GO:0003676) 1.443RTEL1, TERT, PARN
metal ion binding (GO:0046872) 1.413RTEL1, TERT, PARN
heterocyclic compound binding (GO:1901363) 1.063RTEL1, TERT, PARN
hydrolase activity (GO:0016787) 1.92RTEL1, PARN
nucleotide binding (GO:0000166) 1.962RTEL1, PARN
small molecule binding (GO:0036094) 1.892RTEL1, PARN
RNA binding (GO:0003723) 2.362TERT, PARN
DNA binding (GO:0003677) 1.922RTEL1, TERT
nucleoside phosphate binding (GO:1901265) 1.962RTEL1, PARN
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
nucleobase-containing compound metabolic process (GO:0006139) 1.353RTEL1, TERT, PARN
cellular macromolecule metabolic process (GO:0044260) 0.933RTEL1, TERT, PARN
regulation of metabolic process (GO:0019222) 1.023RTEL1, TERT, PARN
primary metabolic process (GO:0044238) 0.693RTEL1, TERT, PARN
regulation of macromolecule metabolic process (GO:0060255) 1.083RTEL1, TERT, PARN
cellular process (GO:0009987) 0.263RTEL1, TERT, PARN
cellular aromatic compound metabolic process (GO:0006725) 1.33RTEL1, TERT, PARN
cellular metabolic process (GO:0044237) 0.693RTEL1, TERT, PARN
macromolecule metabolic process (GO:0043170) 0.833RTEL1, TERT, PARN
nucleic acid metabolic process (GO:0090304) 1.463RTEL1, TERT, PARN
organic substance metabolic process (GO:0071704) 0.633RTEL1, TERT, PARN
cellular nitrogen compound metabolic process (GO:0034641) 1.223RTEL1, TERT, PARN
nitrogen compound metabolic process (GO:0006807) 1.133RTEL1, TERT, PARN
biological regulation (GO:0065007) 0.393RTEL1, TERT, PARN
single-organism process (GO:0044699) 0.483RTEL1, TERT, PARN
metabolic process (GO:0008152) 0.583RTEL1, TERT, PARN
regulation of biological quality (GO:0065008) 1.683RTEL1, TERT, PARN
regulation of biological process (GO:0050789) 0.453RTEL1, TERT, PARN
organic cyclic compound metabolic process (GO:1901360) 1.263RTEL1, TERT, PARN
heterocycle metabolic process (GO:0046483) 1.313RTEL1, TERT, PARN
negative regulation of metabolic process (GO:0009892) 1.932RTEL1, TERT
positive regulation of metabolic process (GO:0009893) 1.742RTEL1, TERT
anatomical structure homeostasis (GO:0060249) 4.252RTEL1, TERT
negative regulation of response to stimulus (GO:0048585) 2.522RTEL1, TERT
negative regulation of cellular metabolic process (GO:0031324) 2.012RTEL1, TERT
regulation of response to stimulus (GO:0048583) 1.542RTEL1, TERT
telomere organization (GO:0032200) 5.332RTEL1, TERT
homeostatic process (GO:0042592) 2.612RTEL1, TERT
cellular biosynthetic process (GO:0044249) 1.372RTEL1, TERT
cellular macromolecule biosynthetic process (GO:0034645) 1.662RTEL1, TERT
cellular component organization or biogenesis (GO:0071840) 1.222RTEL1, TERT
regulation of primary metabolic process (GO:0080090) 1.082RTEL1, TERT
telomere maintenance (GO:0000723) 5.372RTEL1, TERT
organic substance biosynthetic process (GO:1901576) 1.342RTEL1, TERT
cellular response to stimulus (GO:0051716) 1.972RTEL1, TERT
negative regulation of macromolecule metabolic process (GO:0010605) 2.012RTEL1, TERT
positive regulation of macromolecule metabolic process (GO:0010604) 1.812RTEL1, TERT
cellular component organization (GO:0016043) 1.242RTEL1, TERT
positive regulation of biological process (GO:0048518) 1.22RTEL1, TERT
negative regulation of biological process (GO:0048519) 1.332RTEL1, TERT
positive regulation of cellular metabolic process (GO:0031325) 1.812RTEL1, TERT
organelle organization (GO:0006996) 2.022RTEL1, TERT
positive regulation of nucleobase-containing compound metabolic process (GO:0045935) 2.352RTEL1, TERT
negative regulation of nucleobase-containing compound metabolic process (GO:0045934) 2.552RTEL1, TERT
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.432RTEL1, TERT
regulation of cellular metabolic process (GO:0031323) 1.072RTEL1, TERT
regulation of cellular process (GO:0050794) 0.52RTEL1, TERT
response to stress (GO:0006950) 1.82RTEL1, TERT
macromolecule biosynthetic process (GO:0009059) 1.612RTEL1, TERT
single-organism cellular process (GO:0044763) 0.652RTEL1, TERT
regulation of nitrogen compound metabolic process (GO:0051171) 1.362RTEL1, TERT
negative regulation of nitrogen compound metabolic process (GO:0051172) 2.472RTEL1, TERT
positive regulation of nitrogen compound metabolic process (GO:0051173) 2.292RTEL1, TERT
RNA metabolic process (GO:0016070) 1.592TERT, PARN
chromosome organization (GO:0051276) 3.792RTEL1, TERT
response to stimulus (GO:0050896) 1.222RTEL1, TERT
regulation of cellular response to stress (GO:0080135) 3.42RTEL1, TERT
biosynthetic process (GO:0009058) 1.322RTEL1, TERT
regulation of gene expression (GO:0010468) 1.372TERT, PARN
cellular response to stress (GO:0033554) 2.512RTEL1, TERT
DNA metabolic process (GO:0006259) 3.092RTEL1, TERT
regulation of response to stress (GO:0080134) 2.532RTEL1, TERT
negative regulation of cellular process (GO:0048523) 1.412RTEL1, TERT
positive regulation of cellular process (GO:0048522) 1.32RTEL1, TERT

NET-GE enrichment

Term New enriched termICP valueGenes
telomere maintenance (GO:0000723) -5.370.021RTEL1, TERT
telomere organization (GO:0032200) -5.330.006RTEL1, TERT
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
intracellular membrane-bounded organelle (GO:0043231) 0.63RTEL1, TERT, PARN
nucleus (GO:0005634) 1.073RTEL1, TERT, PARN
cell part (GO:0044464) 0.113RTEL1, TERT, PARN
intracellular organelle part (GO:0044446) 0.813RTEL1, TERT, PARN
intracellular organelle (GO:0043229) 0.513RTEL1, TERT, PARN
nuclear part (GO:0044428) 1.553RTEL1, TERT, PARN
intracellular part (GO:0044424) 0.283RTEL1, TERT, PARN
membrane-bounded organelle (GO:0043227) 0.473RTEL1, TERT, PARN
organelle (GO:0043226) 0.43RTEL1, TERT, PARN
organelle part (GO:0044422) 0.793RTEL1, TERT, PARN
cytoplasm (GO:0005737) 1.012TERT, PARN
intracellular non-membrane-bounded organelle (GO:0043232) 1.762TERT, PARN
nucleolus (GO:0005730) 3.062TERT, PARN
nucleoplasm (GO:0005654) 1.892RTEL1, TERT
cytoplasmic part (GO:0044444) 0.822TERT, PARN
non-membrane-bounded organelle (GO:0043228) 1.762TERT, PARN