Disease table of CYSTIC FIBROSIS OMIM ID: 219700

Gene-disease associations table

GeneAssociated with CYSTIC FIBROSIS inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
TGFB1ClinVar, OMIMHGNC link19q13.22131300, 219700
CFTRClinVar, OMIM, HUMSAVARHGNC link7q31.24277180, PS211400, 219700, 167800
FCGR2AOMIMHGNC link1q23.33611162, 152700, 219700

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
USF2NO42PF4, FCER1A, CTSB, IGF2R, NR5A1, CEACAM1, MYH9, TRAP, ASPH, CEACAM5, TOP3A, PTGS2, PDX1, CYP19A1, HOXB4, THBS1, CFTR, TCN2, TGFB1, PKLR, FMR1, SLC19A1, APC, CD2, TGFB2, PIGR, CTSD, ASCL2, PTPN6, CXCR4, BRCA1, FBP1, BRCA2, CXCR2, ATP5A1, APOA2, APOA5, B2M, HMOX1, TERT, ABCA1, LIPC2TGFB1, CFTR
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, MUC62TGFB1, CFTR
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
TGFB1YES12SP1, FOSB, NFKB1, SMAD7, STAT3, SMAD4, SMAD3, USF2, ASH1L, FOSL2, JUND, USF10
CFTRYES12SRF, RELA, YY1, ATF1, CUX1, CREB1, NFE2L2, TFAP2A, CDX2, NFKB1, STAT1, USF20
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
CFTRFCGR2ANo3LGALS3, CBL, EEA1

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
TGFB1CFTRNo-5UBC, ANXA2, FOXA2, MUC4, EDN1
TGFB1FCGR2ANo-1UBC
CFTRFCGR2ANo-3UBC, SYK, TLR4

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
Leishmaniasishsa051406.322TGFB1, FCGR2A
Tuberculosishsa051525.172TGFB1, FCGR2A
Osteoclast differentiationhsa043805.642TGFB1, FCGR2A

NET-GE enrichment

Term New enriched termICP valueGenes
Platelet activation (hsa04611) NEW5.660.005TGFB1, CFTR, FCGR2A
Infectious diseases: BacterialNEW3.760.024TGFB1, CFTR, FCGR2A
Leishmaniasis (hsa05140) -6.320.028TGFB1, FCGR2A
Rap1 signaling pathway (hsa04015) NEW4.970.027TGFB1, CFTR, FCGR2A
Phagosome (hsa04145) NEW5.270.01TGFB1, CFTR, FCGR2A
Tuberculosis (hsa05152) -5.170.018TGFB1, CFTR, FCGR2A
REACTOME pathways annotation: shared terms (no NET-GE enrichment)

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Signal TransductionR-HSA-1625821.782TGFB1, CFTR
DiseaseR-HSA-16436853.332TGFB1, CFTR
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.183TGFB1, CFTR, FCGR2A
protein binding (GO:0005515) 0.463TGFB1, CFTR, FCGR2A
carbohydrate derivative binding (GO:0097367) 2.032TGFB1, CFTR
molecular function regulator (GO:0098772) 2.512TGFB1, CFTR
enzyme binding (GO:0019899) 2.272TGFB1, CFTR

NET-GE enrichment

Term New enriched termICP valueGenes
immunoglobulin binding (GO:0019865) NEW6.60.009TGFB1, FCGR2A
intracellular ligand-gated ion channel activity (GO:0005217) NEW6.410.005TGFB1, CFTR
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
positive regulation of response to stimulus (GO:0048584) 2.183TGFB1, CFTR, FCGR2A
regulation of response to stimulus (GO:0048583) 1.543TGFB1, CFTR, FCGR2A
regulation of cellular process (GO:0050794) 0.53TGFB1, CFTR, FCGR2A
biological regulation (GO:0065007) 0.393TGFB1, CFTR, FCGR2A
positive regulation of biological process (GO:0048518) 1.23TGFB1, CFTR, FCGR2A
regulation of biological process (GO:0050789) 0.453TGFB1, CFTR, FCGR2A
regulation of secretion (GO:0051046) 3.22TGFB1, CFTR
positive regulation of secretion (GO:0051047) 3.852TGFB1, CFTR
regulation of transport (GO:0051049) 2.242TGFB1, CFTR
positive regulation of homeostatic process (GO:0032846) 4.382TGFB1, CFTR
regulation of homeostatic process (GO:0032844) 3.652TGFB1, CFTR
signal transduction (GO:0007165) 1.282TGFB1, FCGR2A
cell surface receptor signaling pathway (GO:0007166) 2.092TGFB1, FCGR2A
inorganic ion homeostasis (GO:0098771) 3.432TGFB1, CFTR
regulation of ion transmembrane transport (GO:0034765) 3.772TGFB1, CFTR
organic cyclic compound biosynthetic process (GO:1901362) 1.662TGFB1, CFTR
organic cyclic compound metabolic process (GO:1901360) 1.262TGFB1, CFTR
cellular response to stimulus (GO:0051716) 1.972TGFB1, CFTR
single-organism biosynthetic process (GO:0044711) 2.82TGFB1, CFTR
regulation of signal transduction (GO:0009966) 1.842TGFB1, CFTR
cellular developmental process (GO:0048869) 1.822TGFB1, CFTR
positive regulation of molecular function (GO:0044093) 2.232TGFB1, CFTR
cellular homeostasis (GO:0019725) 3.232TGFB1, CFTR
positive regulation of transport (GO:0051050) 2.92TGFB1, CFTR
developmental process involved in reproduction (GO:0003006) 3.362TGFB1, CFTR
response to organic substance (GO:0010033) 2.22TGFB1, CFTR
single organism reproductive process (GO:0044702) 2.732TGFB1, CFTR
single-multicellular organism process (GO:0044707) 1.782TGFB1, CFTR
chemical homeostasis (GO:0048878) 2.972TGFB1, CFTR
immune system process (GO:0002376) 2.292TGFB1, FCGR2A
small molecule metabolic process (GO:0044281) 2.382TGFB1, CFTR
positive regulation of secretion by cell (GO:1903532) 3.932TGFB1, CFTR
positive regulation of protein transport (GO:0051222) 3.612TGFB1, CFTR
regulation of protein transport (GO:0051223) 3.122TGFB1, CFTR
organic substance biosynthetic process (GO:1901576) 1.342TGFB1, CFTR
positive regulation of establishment of protein localization (GO:1904951) 3.492TGFB1, CFTR
regulation of protein secretion (GO:0050708) 3.772TGFB1, CFTR
positive regulation of immune system process (GO:0002684) 2.962TGFB1, FCGR2A
regulation of immune system process (GO:0002682) 2.52TGFB1, FCGR2A
single-organism process (GO:0044699) 0.482TGFB1, CFTR
regulation of molecular function (GO:0065009) 1.782TGFB1, CFTR
regulation of biological quality (GO:0065008) 1.682TGFB1, CFTR
regulation of establishment of protein localization (GO:0070201) 3.022TGFB1, CFTR
transport (GO:0006810) 1.512TGFB1, CFTR
single-organism metabolic process (GO:0044710) 1.632TGFB1, CFTR
metabolic process (GO:0008152) 0.582TGFB1, CFTR
establishment of localization (GO:0051234) 1.482TGFB1, CFTR
positive regulation of protein secretion (GO:0050714) 4.392TGFB1, CFTR
response to stimulus (GO:0050896) 1.222TGFB1, CFTR
biosynthetic process (GO:0009058) 1.322TGFB1, CFTR
ion homeostasis (GO:0050801) 3.422TGFB1, CFTR
positive regulation of signaling (GO:0023056) 2.412TGFB1, CFTR
regulation of secretion by cell (GO:1903530) 3.282TGFB1, CFTR
cellular response to chemical stimulus (GO:0070887) 2.572TGFB1, CFTR
regulation of signaling (GO:0023051) 1.722TGFB1, CFTR
positive regulation of cell communication (GO:0010647) 2.412TGFB1, CFTR
regulation of cell communication (GO:0010646) 1.732TGFB1, CFTR
response to organic cyclic compound (GO:0014070) 3.072TGFB1, CFTR
regulation of protein localization (GO:0032880) 2.882TGFB1, CFTR
response to endogenous stimulus (GO:0009719) 2.792TGFB1, CFTR
cellular response to endogenous stimulus (GO:0071495) 3.332TGFB1, CFTR
multicellular organismal process (GO:0032501) 1.452TGFB1, CFTR
cellular response to oxygen-containing compound (GO:1901701) 3.222TGFB1, CFTR
cellular process (GO:0009987) 0.262TGFB1, CFTR
cellular ion homeostasis (GO:0006873) 3.572TGFB1, CFTR
regulation of vesicle-mediated transport (GO:0060627) 3.632TGFB1, CFTR
cellular cation homeostasis (GO:0030003) 3.62TGFB1, CFTR
cation homeostasis (GO:0055080) 3.462TGFB1, CFTR
cellular chemical homeostasis (GO:0055082) 3.42TGFB1, CFTR
regulation of localization (GO:0032879) 1.942TGFB1, CFTR
regulation of immune response (GO:0050776) 2.982TGFB1, FCGR2A
cellular response to organic cyclic compound (GO:0071407) 3.932TGFB1, CFTR
positive regulation of immune response (GO:0050778) 3.42TGFB1, FCGR2A
regulation of transmembrane transport (GO:0034762) 3.742TGFB1, CFTR
developmental process (GO:0032502) 1.362TGFB1, CFTR
regulation of cellular localization (GO:0060341) 3.032TGFB1, CFTR
homeostatic process (GO:0042592) 2.612TGFB1, CFTR
regulation of ion transport (GO:0043269) 3.42TGFB1, CFTR
organic substance metabolic process (GO:0071704) 0.632TGFB1, CFTR
cellular response to organic substance (GO:0071310) 2.782TGFB1, CFTR
organic substance transport (GO:0071702) 2.152TGFB1, CFTR
single-organism developmental process (GO:0044767) 1.492TGFB1, CFTR
reproductive process (GO:0022414) 2.552TGFB1, CFTR
single-organism transport (GO:0044765) 2.182TGFB1, CFTR
single-organism cellular process (GO:0044763) 0.652TGFB1, CFTR
cellular process involved in reproduction in multicellular organism (GO:0022412) 4.32TGFB1, CFTR
response to chemical (GO:0042221) 1.982TGFB1, CFTR
localization (GO:0051179) 1.42TGFB1, CFTR
single-organism localization (GO:1902578) 2.092TGFB1, CFTR
response to oxygen-containing compound (GO:1901700) 2.572TGFB1, CFTR
primary metabolic process (GO:0044238) 0.692TGFB1, CFTR
positive regulation of cellular process (GO:0048522) 1.32TGFB1, CFTR
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
vesicle (GO:0031982) 1.643TGFB1, CFTR, FCGR2A
extracellular region part (GO:0044421) 1.573TGFB1, CFTR, FCGR2A
membrane (GO:0016020) 0.683TGFB1, CFTR, FCGR2A
cell part (GO:0044464) 0.113TGFB1, CFTR, FCGR2A
membrane-bounded vesicle (GO:0031988) 1.713TGFB1, CFTR, FCGR2A
plasma membrane (GO:0005886) 1.393TGFB1, CFTR, FCGR2A
membrane-bounded organelle (GO:0043227) 0.473TGFB1, CFTR, FCGR2A
organelle (GO:0043226) 0.43TGFB1, CFTR, FCGR2A
cytoplasm (GO:0005737) 1.012TGFB1, CFTR
intracellular organelle part (GO:0044446) 0.812TGFB1, CFTR
extracellular organelle (GO:0043230) 1.892CFTR, FCGR2A
extracellular exosome (GO:0070062) 1.892CFTR, FCGR2A
cytoplasmic part (GO:0044444) 0.822TGFB1, CFTR
integral component of membrane (GO:0016021) 1.142CFTR, FCGR2A
Golgi apparatus part (GO:0044431) 3.02TGFB1, CFTR
cytoplasmic vesicle part (GO:0044433) 3.412TGFB1, CFTR
intracellular organelle (GO:0043229) 0.512TGFB1, CFTR
organelle part (GO:0044422) 0.792TGFB1, CFTR
intracellular part (GO:0044424) 0.282TGFB1, CFTR
membrane part (GO:0044425) 0.952CFTR, FCGR2A
extracellular vesicle (GO:1903561) 1.892CFTR, FCGR2A
cell surface (GO:0009986) 3.442TGFB1, CFTR
intrinsic component of membrane (GO:0031224) 1.132CFTR, FCGR2A
intracellular membrane-bounded organelle (GO:0043231) 0.62TGFB1, CFTR

NET-GE enrichment

Term New enriched termICP valueGenes
microvillus (GO:0005902) NEW5.690.045TGFB1, CFTR