Disease table of PULMONARY FIBROSIS, IDIOPATHIC OMIM ID: 178500

Gene-disease associations table

GeneAssociated with PULMONARY FIBROSIS, IDIOPATHIC inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
TERTClinVarHGNC link5p15.335PS127550, 601626, 178500, PS155600, PS614742
TERCClinVarHGNC link3q26.23PS614742, 178500, PS127550
SFTPA2ClinVar, OMIM, HUMSAVARHGNC link10q22.31178500
SFTPA1OMIMHGNC link10q22.31178500
MUC5BClinVar, OMIMHGNC link11p15.51178500
RTEL1ClinVarHGNC link20q13.333PS614742, 178500, PS127550

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Relations among genes:

Tandem repeat annotations from DGD
Common tandem groupNumber of genes in this tandem group associated to this diseaseGenes in this tandem group associated to this disease
Group 4692SFTPA1, SFTPA2
Cytogenetic band analysis
By sub-band
Shared sub_bandNumber of genes associated with the diseaseGenes associated with the disease
10q22.32SFTPA1, SFTPA2
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
10q222SFTPA1, SFTPA2
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
10q22SFTPA1, SFTPA2
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
10q2SFTPA1, SFTPA2
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
102SFTPA1, SFTPA2
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
NFKB1NO306NRF1, VWF, FTH1, PGLYRP2, CDK4, RGS4, IFNG, MMP2, DCST1, AGT, THBD, EGFR, GDNF, CCL4, NCAM1, VEGFA, CR2, CFI, TP53, FOXO3, CYP19A1, BGN, LPL, CXCL12, ELF3, PTHLH, HOXA9, IRF7, TNC, AGER, EDN1, HBEGF, SFTPA1, SAA1, TSLP, GSK3A, IFNB1, GKN2, TRAF2, PLA2G2A, F3, IL10, LIPE, FAF1, IL17A, CEACAM1, AKT1, KLK3, IL1RN, GSTP1, E2F1, CCR5, TAPBP, ADORA2A, CXCL1, PTPN6, MMP3, PIGR, ERAP1, YY1, OLFM4, DEFB4A, CCL2, CD28, SQSTM1, TERT, IL4, NAMPT, BACE1, JUNB, SLC9A2, FASLG, ALOX5, BCL2L1, CD83, TLR3, CCL22, PLIN1, CDKN1A, BIRC3, CSF2, CFLAR, TFPI2, MYB, IL18, SERPINB1, MUC17, TNFRSF10A, PTGFR, TFF3, PTAFR, PTGS2, COX1, SERPINA3, ITGAX, CCND2, MCL1, TLR7, POU2F2, REPS2, CD3G, TFF1, B2M, PLAU, TNF, FOXP3, HDAC7, MUC5B, CCR2, FIGF, HSD11B2, CCL13, IFNA1, NOX5, MAT2A, COL7A1, HMOX1, ADORA1, TNFSF10, AR, COL2A1, TAP1, IL1B, CD74, CD38, MUC5AC, MUC2, TIMP1, CCL19, FGF8, PDK4, CCL20, STK39, CYP3A7, MMP9, GATA3, IRF4, CD58, HES1, PLAUR, SP4, NFKB1, MMP1, NOX4, BDKRB1, CASP3, CYP1A1, PSMB9, PTEN, HPSE, CCNB1, CD40, NOS3, PTGDS, UPP1, HIF1A, TNFRSF9, CD80, TNFSF13B, IL23A, TNFAIP3, TNFSF14, IL12A, TRPC1, CYP2E1, OPRM1, HLA-F, AMH, XIAP, MADCAM1, HYAL1, A2M, CCL11, TBX21, ICAM1, BCL2L11, CHUK, TAP2, IL2RA, CTCF, ABCB1, GSK3B, CCND1, KLF5, CCR7, CCK, DCST2, MMP14, IL17C, FBP1, OPTN, IL1A, LTC4S, COL1A2, NOS1, WT1, BIRC5, PPIG, PTGES, CREB3, CXCL2, CRP, KDM2A, BCL2A1, BRCA2, IKBKB, GFAP, PSMB10, PROX1, COL1A1, TNIP3, NFKBIZ, TLR2, S100A6, DRD2, CXCL8, CD86, TRAF1, PTPN13, CSNK2A1, CARD8, CXCL10, IL6, CFTR, CASP9, ABCG2, BMP2, CRMP1, IL2, IRF1, SOD2, IER3, NFKBIA, FN1, SERPINE1, MICA, TBP, CXCR2, BHMT, NCOR1, SNAI1, BAX, NPPB, CTSB, F8, IL12B, IGF2BP1, LCN2, NOLC1, CD40LG, SELE, NOD2, CCL5, FAS, ALOX5AP, OLR1, CXCR4, SDC1, FLT4, NCOR2, AKT2, CDH1, TGFB1, CCL3, IGF2BP2, HDAC1, SP1, PDE7A, ADORA3, CRHR1, BCL3, MIF, CXCL5, TNFRSF10B, HAX1, CYP27B1, NLRP2, FGF7, PTGER4, TNFRSF13C, CARM1, EBI3, VCAM1, ERAP2, MYC, CSF1, EPCAM, SLC25A27, NOS2, RIPK2, EGR1, BTG2, BCL2, ABCA1, CD69, BIRC2, CCR3, IL21, GCLC, MMP13, GRIN1, SP3, RRM2B, STAT4, TF, MUC63SFTPA1, MUC5B, TERT
RELANO302NRF1, OXTR, FTH1, CDK4, UPP1, IFNG, MMP2, DCST1, AGT, FLT4, EGFR, CCL4, NCAM1, VEGFA, CR2, CFI, TP53, FOXO3, CYP19A1, BGN, LPL, CXCL12, ELF3, PTHLH, IRF7, TNC, AGER, EDN1, SFTPA1, IGF2BP2, PPARA, SAA1, TSLP, GSK3A, IFNB1, GKN2, PLA2G2A, F3, IL10, KLK3, MMP12, IL17A, NR4A1, CEACAM1, AKT1, EPAS1, IL1RN, BAX, TRIB3, E2F1, PCK2, CXCL1, PTPN6, MMP3, CDK6, PIGR, ERAP1, YY1, OLFM4, IL18, LIPE, CD28, MMP9, TERT, IL4, NAMPT, BACE1, JUNB, CCR2, FASLG, ALOX5, BCL2L1, CCL11, PGR, GTF2B, CCL22, PLIN1, AKT2, BIRC3, HBEGF, CCL2, SERPINB1, MUC17, BAD, FGF7, PTGFR, TFF3, PTAFR, PTGS2, COX1, SERPINA3, ITGAX, CCND2, MCL1, TLR7, POU2F2, REPS2, TF, TFF1, SLC9A2, PLAU, TNF, FOXP3, HDAC7, MUC5B, NCOR1, FIGF, CYP3A4, SP1, CCL13, IFNA1, NOX5, MAT2A, COL7A1, HMOX1, ADORA1, TNFSF10, AR, CCR5, COL2A1, TAP1, IL1B, CD74, CD38, MUC5AC, GSTP1, MUC2, TIMP1, CCL19, CXCR4, FGF8, PDK4, CCL20, STK39, CYP3A7, GATA3, IRF4, CD58, HES1, PLAUR, SP4, NFKB1, MMP1, NOX4, BDKRB1, CASP3, CYP1A1, PTEN, HPSE, CCNB1, CD40, NOS3, ABCA1, PPARD, HIF1A, TNFRSF9, CD80, KDM2A, IL23A, TNFAIP3, TNFSF14, IL12A, TRPC1, CYP2E1, RGS4, ADORA2A, AMH, XIAP, MADCAM1, HYAL1, CFLAR, TBX21, ICAM1, BCL2L11, CHUK, TAP2, IL2RA, TLR3, ABCB1, IL17C, CCND1, KLF5, CCR7, CCK, DCST2, MMP14, FBP1, OPTN, IL1A, LTC4S, COL1A2, NOS1, WT1, BIRC5, PPIG, PTGES, THBD, CREB3, VWF, CXCL2, CRP, HLA-A, BCL2A1, BRCA2, IKBKB, GFAP, TWIST1, PSMB10, PROX1, COL1A1, TNIP3, NFKBIZ, TLR2, TNFRSF10A, S100A6, DRD2, CXCL8, BTG2, TRAF1, PTPN13, CD83, CSNK2A1, CARD8, CXCL10, CDKN1A, IL6, CFTR, CASP9, SIRT1, BMP2, IL2, IRF1, SOD2, IER3, NFKBIA, FN1, SERPINE1, MICA, TBP, CXCR2, BHMT, ABCG2, SNAI1, NOS2, PSMB9, CTSB, HSD11B2, F8, IL12B, IGF2BP1, LCN2, NOLC1, CD40LG, SELE, CCL5, FAS, ALOX5AP, OLR1, VCAM1, SDC1, SAA2, NCOR2, DEFB4A, CDH1, TRAF2, CCL3, GNRH2, HDAC1, TAPBP, CSF2, ADORA3, CRHR1, BCL3, MIF, CXCL5, TNFRSF10B, CYP27B1, NLRP2, FAF1, PTGER4, TNFRSF13C, CARM1, EBI3, ERAP2, CSF1, EPCAM, SLC25A27, RIPK2, EGR1, CD86, BCL2, CD69, BIRC2, CCR3, NPPB, GCLC, MMP13, GRIN1, SP3, MYC, STAT4, MUC63SFTPA1, MUC5B, TERT
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
SFTPA1YES3NFKB1, NKX2-1, RELA0
MUC5BYES2NFKB1, RELA0
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
TERTTERCYes3RUVBL1, RUVBL2, DKC1
TERTRTEL1No1XRCC5

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
TERTSFTPA2No-1EGFR
TERTSFTPA1No-1EGFR
TERTMUC5BNo-1EGFR
SFTPA2SFTPA1Yesreaction2EGFR, FOXA1
SFTPA2MUC5BNo-1EGFR
SFTPA1MUC5BNo-1EGFR

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
Pertussishsa051336.462SFTPA2, SFTPA1
Phagosomehsa041455.272SFTPA2, SFTPA1

NET-GE enrichment

Term New enriched termICP valueGenes
Pertussis (hsa05133) -6.460.035SFTPA2, SFTPA1
Phagosome (hsa04145) -5.270.047SFTPA2, SFTPA1
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Toll-Like Receptors CascadesR-HSA-1688985.912SFTPA2, SFTPA1
Toll Like Receptor TLR1:TLR2 CascadeR-HSA-1681796.512SFTPA2, SFTPA1
Immune SystemR-HSA-1682562.372SFTPA2, SFTPA1
Toll Like Receptor 2 (TLR2) CascadeR-HSA-1814386.512SFTPA2, SFTPA1
Toll Like Receptor 4 (TLR4) CascadeR-HSA-1660166.112SFTPA2, SFTPA1
Cell-Cell communicationR-HSA-15009315.872SFTPA2, SFTPA1
Innate Immune SystemR-HSA-1682493.172SFTPA2, SFTPA1
Signal regulatory protein (SIRP) family interactionsR-HSA-3911608.982SFTPA2, SFTPA1

NET-GE enrichment

Term New enriched termICP valueGenes
Signal regulatory protein (SIRP) family interactions (R-HSA-391160) -8.980.001SFTPA2, SFTPA1
Toll Like Receptor 2 (TLR2) Cascade (R-HSA-181438) -6.510.029SFTPA2, SFTPA1
Toll Like Receptor TLR1:TLR2 Cascade (R-HSA-168179) -6.510.029SFTPA2, SFTPA1
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.185RTEL1, SFTPA2, MUC5B, SFTPA1, TERT
protein binding (GO:0005515) 0.464RTEL1, SFTPA1, MUC5B, TERT
cation binding (GO:0043169) 1.42RTEL1, TERT
organic cyclic compound binding (GO:0097159) 1.052RTEL1, TERT
carbohydrate binding (GO:0030246) 4.172SFTPA2, SFTPA1
ion binding (GO:0043167) 1.362RTEL1, TERT
catalytic activity (GO:0003824) 1.052RTEL1, TERT
nucleic acid binding (GO:0003676) 1.442RTEL1, TERT
DNA binding (GO:0003677) 1.922RTEL1, TERT
metal ion binding (GO:0046872) 1.412RTEL1, TERT
heterocyclic compound binding (GO:1901363) 1.062RTEL1, TERT
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
primary metabolic process (GO:0044238) 0.695RTEL1, SFTPA2, MUC5B, SFTPA1, TERT
cellular macromolecule metabolic process (GO:0044260) 0.935RTEL1, SFTPA2, MUC5B, SFTPA1, TERT
cellular process (GO:0009987) 0.265RTEL1, SFTPA2, MUC5B, SFTPA1, TERT
cellular metabolic process (GO:0044237) 0.695RTEL1, SFTPA2, MUC5B, SFTPA1, TERT
macromolecule metabolic process (GO:0043170) 0.835RTEL1, SFTPA2, MUC5B, SFTPA1, TERT
organic substance metabolic process (GO:0071704) 0.635RTEL1, SFTPA2, MUC5B, SFTPA1, TERT
metabolic process (GO:0008152) 0.585RTEL1, SFTPA2, MUC5B, SFTPA1, TERT
single-organism process (GO:0044699) 0.485RTEL1, SFTPA2, MUC5B, SFTPA1, TERT
cellular protein metabolic process (GO:0044267) 1.633SFTPA2, MUC5B, SFTPA1
protein metabolic process (GO:0019538) 1.453SFTPA2, MUC5B, SFTPA1
response to stimulus (GO:0050896) 1.223RTEL1, MUC5B, TERT
regulation of cellular process (GO:0050794) 0.53RTEL1, MUC5B, TERT
response to stress (GO:0006950) 1.83RTEL1, MUC5B, TERT
biological regulation (GO:0065007) 0.393RTEL1, MUC5B, TERT
single-organism cellular process (GO:0044763) 0.653RTEL1, MUC5B, TERT
regulation of biological process (GO:0050789) 0.453RTEL1, MUC5B, TERT
negative regulation of metabolic process (GO:0009892) 1.932RTEL1, TERT
positive regulation of metabolic process (GO:0009893) 1.742RTEL1, TERT
regulation of metabolic process (GO:0019222) 1.022RTEL1, 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
nucleic acid metabolic process (GO:0090304) 1.462RTEL1, TERT
cellular biosynthetic process (GO:0044249) 1.372RTEL1, TERT
cellular nitrogen compound metabolic process (GO:0034641) 1.222RTEL1, TERT
nitrogen compound metabolic process (GO:0006807) 1.132RTEL1, TERT
cellular macromolecule biosynthetic process (GO:0034645) 1.662RTEL1, TERT
organic cyclic compound metabolic process (GO:1901360) 1.262RTEL1, 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
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.432RTEL1, TERT
cellular component organization or biogenesis (GO:0071840) 1.222RTEL1, TERT
positive regulation of biological process (GO:0048518) 1.22RTEL1, TERT
negative regulation of biological process (GO:0048519) 1.332RTEL1, TERT
regulation of biological quality (GO:0065008) 1.682RTEL1, TERT
positive regulation of cellular metabolic process (GO:0031325) 1.812RTEL1, TERT
multicellular organismal process (GO:0032501) 1.452SFTPA2, SFTPA1
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
nucleobase-containing compound metabolic process (GO:0006139) 1.352RTEL1, TERT
regulation of macromolecule metabolic process (GO:0060255) 1.082RTEL1, TERT
regulation of cellular metabolic process (GO:0031323) 1.072RTEL1, TERT
respiratory gaseous exchange (GO:0007585) 5.862SFTPA2, SFTPA1
cellular aromatic compound metabolic process (GO:0006725) 1.32RTEL1, TERT
single-organism metabolic process (GO:0044710) 1.632RTEL1, MUC5B
biosynthetic process (GO:0009058) 1.322RTEL1, TERT
macromolecule biosynthetic process (GO:0009059) 1.612RTEL1, 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
establishment of localization (GO:0051234) 1.482SFTPA1, TERT
localization (GO:0051179) 1.42SFTPA1, TERT
heterocycle metabolic process (GO:0046483) 1.312RTEL1, TERT
organelle organization (GO:0006996) 2.022RTEL1, TERT
homeostatic process (GO:0042592) 2.612RTEL1, TERT
chromosome organization (GO:0051276) 3.792RTEL1, TERT
single-multicellular organism process (GO:0044707) 1.782SFTPA2, SFTPA1
regulation of response to stress (GO:0080134) 2.532RTEL1, TERT
regulation of cellular response to stress (GO:0080135) 3.42RTEL1, TERT
telomere organization (GO:0032200) 5.332RTEL1, TERT
cellular response to stress (GO:0033554) 2.512RTEL1, TERT
DNA metabolic process (GO:0006259) 3.092RTEL1, 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) -5.370.025RTEL1, TERT
respiratory gaseous exchange (GO:0007585) -5.860.013SFTPA2, SFTPA1
telomere organization (GO:0032200) -5.330.026RTEL1, TERT
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
intracellular membrane-bounded organelle (GO:0043231) 0.65RTEL1, SFTPA2, MUC5B, SFTPA1, TERT
cell part (GO:0044464) 0.115RTEL1, SFTPA2, MUC5B, SFTPA1, TERT
intracellular organelle part (GO:0044446) 0.815RTEL1, SFTPA2, MUC5B, SFTPA1, TERT
intracellular organelle (GO:0043229) 0.515RTEL1, SFTPA2, MUC5B, SFTPA1, TERT
intracellular part (GO:0044424) 0.285RTEL1, SFTPA2, MUC5B, SFTPA1, TERT
membrane-bounded organelle (GO:0043227) 0.475RTEL1, SFTPA2, MUC5B, SFTPA1, TERT
organelle (GO:0043226) 0.45RTEL1, SFTPA2, MUC5B, SFTPA1, TERT
organelle part (GO:0044422) 0.795RTEL1, SFTPA2, MUC5B, SFTPA1, TERT
cytoplasmic part (GO:0044444) 0.824SFTPA2, MUC5B, SFTPA1, TERT
protein complex (GO:0043234) 1.513SFTPA2, SFTPA1, TERT
macromolecular complex (GO:0032991) 1.353SFTPA2, SFTPA1, TERT
vesicle (GO:0031982) 1.643SFTPA2, MUC5B, SFTPA1
membrane-bounded vesicle (GO:0031988) 1.713SFTPA2, MUC5B, SFTPA1
extracellular region (GO:0005576) 2.183SFTPA2, MUC5B, SFTPA1
extracellular region part (GO:0044421) 1.573SFTPA2, MUC5B, SFTPA1
extracellular space (GO:0005615) 2.633SFTPA2, MUC5B, SFTPA1
nucleoplasm (GO:0005654) 1.892RTEL1, TERT
collagen trimer (GO:0005581) 5.212SFTPA2, SFTPA1
secretory vesicle (GO:0099503) 4.02SFTPA2, SFTPA1
cytoplasmic, membrane-bounded vesicle (GO:0016023) 3.122SFTPA2, SFTPA1
cytoplasmic vesicle (GO:0031410) 2.872SFTPA2, SFTPA1
nucleus (GO:0005634) 1.072RTEL1, TERT
membrane (GO:0016020) 0.682SFTPA2, SFTPA1
extracellular matrix (GO:0031012) 3.812SFTPA2, SFTPA1
endocytic vesicle (GO:0030139) 5.042SFTPA2, SFTPA1
endoplasmic reticulum part (GO:0044432) 2.732SFTPA2, SFTPA1
clathrin-coated endocytic vesicle (GO:0045334) 6.972SFTPA2, SFTPA1
endoplasmic reticulum membrane (GO:0005789) 2.952SFTPA2, SFTPA1
intracellular vesicle (GO:0097708) 2.862SFTPA2, SFTPA1
membrane part (GO:0044425) 0.952SFTPA2, SFTPA1
secretory granule (GO:0030141) 4.342SFTPA2, SFTPA1
nuclear part (GO:0044428) 1.552RTEL1, TERT
lamellar body (GO:0042599) 6.862SFTPA2, SFTPA1
coated vesicle (GO:0030135) 4.942SFTPA2, SFTPA1
proteinaceous extracellular matrix (GO:0005578) 4.012SFTPA2, SFTPA1
clathrin-coated vesicle (GO:0030136) 5.262SFTPA2, SFTPA1

NET-GE enrichment

Term New enriched termICP valueGenes
collagen trimer (GO:0005581) -5.210.01SFTPA2, SFTPA1