Disease table of SUFACTANT METABOLISM DYSFUNCTION, PULMONARY OMIM ID: PS265120

Gene-disease associations table

GeneAssociated with SUFACTANT METABOLISM DYSFUNCTION, PULMONARY inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
CSF2RBClinVar, OMIMHGNC link22q12.31PS265120
CSF2RAOMIM, HUMSAVARHGNC linkXp22.331PS265120
SFTPBClinVar, OMIM, HUMSAVARHGNC link2p11.21PS265120
SFTPCClinVar, OMIM, HUMSAVARHGNC link8p21.31PS265120
CSF2RAYClinVarHGNC linkY-1PS265120
ABCA3ClinVar, OMIM, HUMSAVARHGNC link16p13.31PS265120

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
CSF2RAYES2SPI1, CEBPA0
SFTPBYES6FOXM1, RARA, NF1, NKX2-1, MYBBP1A, FOXA10
SFTPCYES1PLAGL20
ABCA3YES1SALL40
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
CSF2RBCSF2RANo1IKBKB

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
CSF2RBCSF2RAYesbinding86IFNA13, IFNG, PIK3CA, IL20, SOCS2, IL29, IFNA7, IFNA17, STAT5A, IL11, PRKACB, IFNB1, CSH2, IL9, CBLB, IL2, CSH1, IL23A, PIK3R1, GRB2, CBL, TYK2, OSM, IFNE, IL28A, JAK2, EPO, PRKACA, IFNA14, GH1, CSF3, SOCS3, IFNA10, IFNA2, INPP5D, IL26, CTF1, STAT5B, IFNA8, IL15, IL22, IFNA5, PRL, IL12A, SOCS5, SYK, CLCF1, GH2, TPO, SOCS4, SOCS1, LEP, IFNA21, IL21, HRAS, GAB2, IKBKB, CNTF, IFNA4, IFNW1, IL24, SOCS7, IL5, IL28B, PTPN11, LYN, JAK1, IL7, IL4, IL6, SOS1, IFNA6, SHC1, YWHAZ, CSF2, IFNA1, PRKACG, IL10, IL13, IFNA16, STAT3, IL3, IFNK, CBLC, TSLP, IL19
CSF2RBSFTPBNo-1STAT3
CSF2RBABCA3No-2IL6, STAT3
CSF2RASFTPBNo-1STAT3
CSF2RAABCA3No-2IL6, STAT3
SFTPBSFTPCNo-1NKX2-1
SFTPBABCA3No-2STAT3, NKX2-1
SFTPCABCA3No-1NKX2-1

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

Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Gene1Gene2InteractionNumber of common interactorsCommon genes in interaction
CSF2RBCSF2RAYes3CSF2RAY, CSF2RA, CSF2RB
CSF2RBCSF2RAYYes3CSF2RAY, CSF2RA, CSF2RB
CSF2RACSF2RAYYes3CSF2RAY, CSF2RA, CSF2RB

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

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
Cytokine-cytokine receptor interactionhsa040604.673CSF2RAY, CSF2RA, CSF2RB
Jak-STAT signaling pathwayhsa046305.443CSF2RAY, CSF2RA, CSF2RB
Pathways in cancerhsa052003.982CSF2RAY, CSF2RA
Hematopoietic cell lineagehsa046406.182CSF2RAY, CSF2RA

NET-GE enrichment

Term New enriched termICP valueGenes
Jak-STAT signaling pathway (hsa04630) -5.440.027CSF2RA, CSF2RB
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)R-HSA-24041924.853CSF2RAY, CSF2RA, CSF2RB
Immune SystemR-HSA-1682562.373CSF2RAY, CSF2RA, CSF2RB
Gastrin-CREB signalling pathway via PKC and MAPKR-HSA-8819074.263CSF2RAY, CSF2RA, CSF2RB
FRS-mediated FGFR4 signalingR-HSA-56547125.143CSF2RAY, CSF2RA, CSF2RB
Signaling by InterleukinsR-HSA-4491474.713CSF2RAY, CSF2RA, CSF2RB
Signaling by PDGFR-HSA-1867974.533CSF2RAY, CSF2RA, CSF2RB
GPVI-mediated activation cascadeR-HSA-1146047.183CSF2RAY, CSF2RA, CSF2RB
Signaling by LeptinR-HSA-25865525.13CSF2RAY, CSF2RA, CSF2RB
Frs2-mediated activationR-HSA-1709685.123CSF2RAY, CSF2RA, CSF2RB
Cytokine Signaling in Immune systemR-HSA-12802153.743CSF2RAY, CSF2RA, CSF2RB
IGF1R signaling cascadeR-HSA-24289244.853CSF2RAY, CSF2RA, CSF2RB
Downstream signal transductionR-HSA-1867634.653CSF2RAY, CSF2RA, CSF2RB
IRS-related events triggered by IGF1RR-HSA-24289284.853CSF2RAY, CSF2RA, CSF2RB
Signaling by ERBB4R-HSA-12363944.73CSF2RAY, CSF2RA, CSF2RB
MAPK1/MAPK3 signalingR-HSA-56849965.113CSF2RAY, CSF2RA, CSF2RB
Developmental BiologyR-HSA-12667383.483CSF2RAY, CSF2RA, CSF2RB
RAF/MAP kinase cascadeR-HSA-56730015.153CSF2RAY, CSF2RA, CSF2RB
Downstream signaling of activated FGFR1R-HSA-56546874.713CSF2RAY, CSF2RA, CSF2RB
MAPK family signaling cascadesR-HSA-56830574.893CSF2RAY, CSF2RA, CSF2RB
Signalling by NGFR-HSA-1665204.233CSF2RAY, CSF2RA, CSF2RB
Signaling by VEGFR-HSA-1941384.663CSF2RAY, CSF2RA, CSF2RB
Signalling to p38 via RIT and RINR-HSA-1877065.123CSF2RAY, CSF2RA, CSF2RB
Platelet activation, signaling and aggregationR-HSA-760025.153CSF2RAY, CSF2RA, CSF2RB
FCERI mediated MAPK activationR-HSA-28717964.323CSF2RAY, CSF2RA, CSF2RB
IRS-mediated signallingR-HSA-1123994.873CSF2RAY, CSF2RA, CSF2RB
FRS-mediated FGFR2 signalingR-HSA-56547005.143CSF2RAY, CSF2RA, CSF2RB
DAP12 interactionsR-HSA-21721274.563CSF2RAY, CSF2RA, CSF2RB
FRS-mediated FGFR3 signalingR-HSA-56547065.143CSF2RAY, CSF2RA, CSF2RB
Signaling by Insulin receptorR-HSA-747524.733CSF2RAY, CSF2RA, CSF2RB
Downstream signaling of activated FGFR3R-HSA-56547084.713CSF2RAY, CSF2RA, CSF2RB
Insulin receptor signalling cascadeR-HSA-747514.853CSF2RAY, CSF2RA, CSF2RB
Signaling by FGFR4R-HSA-56547434.693CSF2RAY, CSF2RA, CSF2RB
Signaling by FGFR3R-HSA-56547414.693CSF2RAY, CSF2RA, CSF2RB
G-protein beta:gamma signallingR-HSA-3977957.313CSF2RAY, CSF2RA, CSF2RB
VEGFA-VEGFR2 PathwayR-HSA-44200974.73CSF2RAY, CSF2RA, CSF2RB
GRB2 events in ERBB2 signalingR-HSA-19636405.153CSF2RAY, CSF2RA, CSF2RB
Signaling by FGFRR-HSA-1902364.673CSF2RAY, CSF2RA, CSF2RB
Fc epsilon receptor (FCERI) signalingR-HSA-24542024.033CSF2RAY, CSF2RA, CSF2RB
GPCR downstream signalingR-HSA-3883963.073CSF2RAY, CSF2RA, CSF2RB
Interleukin receptor SHC signalingR-HSA-9125265.093CSF2RAY, CSF2RA, CSF2RB
Innate Immune SystemR-HSA-1682493.173CSF2RAY, CSF2RA, CSF2RB
Signaling by SCF-KITR-HSA-14335574.733CSF2RAY, CSF2RA, CSF2RB
Interleukin-2 signalingR-HSA-4519275.053CSF2RAY, CSF2RA, CSF2RB
NCAM signaling for neurite out-growthR-HSA-3751654.93CSF2RAY, CSF2RA, CSF2RB
Signalling to RASR-HSA-1670445.083CSF2RAY, CSF2RA, CSF2RB
DAP12 signalingR-HSA-24244914.643CSF2RAY, CSF2RA, CSF2RB
Interleukin-3, 5 and GM-CSF signalingR-HSA-5129884.993CSF2RAY, CSF2RA, CSF2RB
Downstream signaling of activated FGFR2R-HSA-56546964.713CSF2RAY, CSF2RA, CSF2RB
SHC1 events in ERBB4 signalingR-HSA-12503475.153CSF2RAY, CSF2RA, CSF2RB
SHC1 events in EGFR signalingR-HSA-1803365.153CSF2RAY, CSF2RA, CSF2RB
NGF signalling via TRKA from the plasma membraneR-HSA-1870374.513CSF2RAY, CSF2RA, CSF2RB
FRS-mediated FGFR1 signalingR-HSA-56546935.143CSF2RAY, CSF2RA, CSF2RB
Prolonged ERK activation eventsR-HSA-1698935.113CSF2RAY, CSF2RA, CSF2RB
Signalling to ERKsR-HSA-1876875.043CSF2RAY, CSF2RA, CSF2RB
Signaling by GPCRR-HSA-3727902.683CSF2RAY, CSF2RA, CSF2RB
Signaling by FGFR2R-HSA-56547384.683CSF2RAY, CSF2RA, CSF2RB
GRB2 events in EGFR signalingR-HSA-1798125.153CSF2RAY, CSF2RA, CSF2RB
SHC1 events in ERBB2 signalingR-HSA-12501965.153CSF2RAY, CSF2RA, CSF2RB
G beta:gamma signalling through PI3KgammaR-HSA-3924517.43CSF2RAY, CSF2RA, CSF2RB
Signaling by EGFRR-HSA-1779294.593CSF2RAY, CSF2RA, CSF2RB
ARMS-mediated activationR-HSA-1709845.123CSF2RAY, CSF2RA, CSF2RB
SOS-mediated signallingR-HSA-1124125.153CSF2RAY, CSF2RA, CSF2RB
Signaling by FGFR1R-HSA-56547364.693CSF2RAY, CSF2RA, CSF2RB
Signaling by ERBB2R-HSA-12279864.663CSF2RAY, CSF2RA, CSF2RB
Axon guidanceR-HSA-4224753.933CSF2RAY, CSF2RA, CSF2RB
VEGFR2 mediated cell proliferationR-HSA-52189215.073CSF2RAY, CSF2RA, CSF2RB
Downstream signaling of activated FGFR4R-HSA-56547164.713CSF2RAY, CSF2RA, CSF2RB
HemostasisR-HSA-1095823.983CSF2RAY, CSF2RA, CSF2RB
Signal TransductionR-HSA-1625821.783CSF2RAY, CSF2RA, CSF2RB

NET-GE enrichment

Term New enriched termICP valueGenes
Signaling by ERBB4 (R-HSA-1236394) -4.70.023SFTPC, CSF2RA, CSF2RB
GPVI-mediated activation cascade (R-HSA-114604) -7.180.012CSF2RA, CSF2RB
G beta:gamma signalling through PI3Kgamma (R-HSA-392451) -7.40.002CSF2RA, CSF2RB
G-protein beta:gamma signalling (R-HSA-397795) -7.310.011CSF2RA, CSF2RB
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.185ABCA3, SFTPB, SFTPC, CSF2RA, CSF2RB
protein binding (GO:0005515) 0.464SFTPB, SFTPC, CSF2RA, CSF2RB
catalytic activity (GO:0003824) 1.053ABCA3, CSF2RA, CSF2RB
molecular function regulator (GO:0098772) 2.513SFTPB, CSF2RA, CSF2RB
Ras guanyl-nucleotide exchange factor activity (GO:0005088) 4.312CSF2RA, CSF2RB
signaling receptor activity (GO:0038023) 2.492CSF2RA, CSF2RB
phosphotransferase activity, alcohol group as acceptor (GO:0016773) 3.082CSF2RA, CSF2RB
transferase activity, transferring phosphorus-containing groups (GO:0016772) 2.772CSF2RA, CSF2RB
kinase activity (GO:0016301) 2.932CSF2RA, CSF2RB
guanyl-nucleotide exchange factor activity (GO:0005085) 4.022CSF2RA, CSF2RB
transmembrane signaling receptor activity (GO:0004888) 2.572CSF2RA, CSF2RB
molecular transducer activity (GO:0060089) 2.322CSF2RA, CSF2RB
transferase activity (GO:0016740) 1.952CSF2RA, CSF2RB
protein tyrosine kinase activity (GO:0004713) 4.542CSF2RA, CSF2RB
signal transducer activity (GO:0004871) 2.282CSF2RA, CSF2RB
protein kinase activity (GO:0004672) 3.272CSF2RA, CSF2RB
receptor activity (GO:0004872) 2.322CSF2RA, CSF2RB
transmembrane receptor activity (GO:0099600) 2.532CSF2RA, CSF2RB
cytokine receptor activity (GO:0004896) 5.242CSF2RA, CSF2RB

NET-GE enrichment

Term New enriched termICP valueGenes
cytokine receptor activity (GO:0004896) -5.240.006CSF2RA, CSF2RB
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cellular protein metabolic process (GO:0044267) 1.635ABCA3, SFTPB, SFTPC, CSF2RA, CSF2RB
cellular macromolecule metabolic process (GO:0044260) 0.935ABCA3, SFTPB, SFTPC, CSF2RA, CSF2RB
primary metabolic process (GO:0044238) 0.695ABCA3, SFTPB, SFTPC, CSF2RA, CSF2RB
protein metabolic process (GO:0019538) 1.455ABCA3, SFTPB, SFTPC, CSF2RA, CSF2RB
cellular process (GO:0009987) 0.265ABCA3, SFTPB, SFTPC, CSF2RA, CSF2RB
cellular metabolic process (GO:0044237) 0.695ABCA3, SFTPB, SFTPC, CSF2RA, CSF2RB
macromolecule metabolic process (GO:0043170) 0.835ABCA3, SFTPB, SFTPC, CSF2RA, CSF2RB
organic substance metabolic process (GO:0071704) 0.635ABCA3, SFTPB, SFTPC, CSF2RA, CSF2RB
metabolic process (GO:0008152) 0.585ABCA3, SFTPB, SFTPC, CSF2RA, CSF2RB
single-organism process (GO:0044699) 0.485ABCA3, SFTPB, SFTPC, CSF2RA, CSF2RB
single-organism metabolic process (GO:0044710) 1.633SFTPB, CSF2RA, CSF2RB
multicellular organismal process (GO:0032501) 1.453SFTPB, SFTPC, CSF2RB
respiratory gaseous exchange (GO:0007585) 5.863SFTPB, SFTPC, CSF2RB
single-multicellular organism process (GO:0044707) 1.783SFTPB, SFTPC, CSF2RB
response to stimulus (GO:0050896) 1.223ABCA3, CSF2RA, CSF2RB
regulation of catalytic activity (GO:0050790) 1.973SFTPB, CSF2RA, CSF2RB
biological regulation (GO:0065007) 0.393SFTPB, CSF2RA, CSF2RB
positive regulation of molecular function (GO:0044093) 2.233SFTPB, CSF2RA, CSF2RB
response to chemical (GO:0042221) 1.983ABCA3, CSF2RA, CSF2RB
single-organism cellular process (GO:0044763) 0.653SFTPB, CSF2RA, CSF2RB
regulation of molecular function (GO:0065009) 1.783SFTPB, CSF2RA, CSF2RB
response to organic substance (GO:0010033) 2.23ABCA3, CSF2RA, CSF2RB
positive regulation of catalytic activity (GO:0043085) 2.43SFTPB, CSF2RA, CSF2RB
cytokine-mediated signaling pathway (GO:0019221) 3.62CSF2RA, CSF2RB
MAPK cascade (GO:0000165) 3.912CSF2RA, CSF2RB
peptidyl-tyrosine phosphorylation (GO:0018108) 4.482CSF2RA, CSF2RB
signal transduction (GO:0007165) 1.282CSF2RA, CSF2RB
cell surface receptor signaling pathway (GO:0007166) 2.092CSF2RA, CSF2RB
intracellular signal transduction (GO:0035556) 2.392CSF2RA, CSF2RB
cellular response to chemical stimulus (GO:0070887) 2.572CSF2RA, CSF2RB
regulation of GTPase activity (GO:0043087) 3.212CSF2RA, CSF2RB
regulation of biological process (GO:0050789) 0.452CSF2RA, CSF2RB
signal transduction by protein phosphorylation (GO:0023014) 3.792CSF2RA, CSF2RB
cellular response to stimulus (GO:0051716) 1.972CSF2RA, CSF2RB
positive regulation of GTPase activity (GO:0043547) 3.282CSF2RA, CSF2RB
positive regulation of hydrolase activity (GO:0051345) 2.912CSF2RA, CSF2RB
peptidyl-tyrosine modification (GO:0018212) 4.472CSF2RA, CSF2RB
peptidyl-amino acid modification (GO:0018193) 2.982CSF2RA, CSF2RB
cellular response to organic substance (GO:0071310) 2.782CSF2RA, CSF2RB
phosphorylation (GO:0016310) 2.632CSF2RA, CSF2RB
protein phosphorylation (GO:0006468) 2.892CSF2RA, CSF2RB
response to cytokine (GO:0034097) 3.842CSF2RA, CSF2RB
cellular protein modification process (GO:0006464) 1.792CSF2RA, CSF2RB
regulation of cellular process (GO:0050794) 0.52CSF2RA, CSF2RB
macromolecule modification (GO:0043412) 1.732CSF2RA, CSF2RB
protein modification process (GO:0036211) 1.792CSF2RA, CSF2RB
regulation of hydrolase activity (GO:0051336) 2.532CSF2RA, CSF2RB
cellular response to cytokine stimulus (GO:0071345) 4.332CSF2RA, CSF2RB
phosphate-containing compound metabolic process (GO:0006796) 2.162CSF2RA, CSF2RB
phosphorus metabolic process (GO:0006793) 2.152CSF2RA, CSF2RB

NET-GE enrichment

Term New enriched termICP valueGenes
respiratory gaseous exchange (GO:0007585) -5.860.001SFTPB, SFTPC, CSF2RB
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
membrane part (GO:0044425) 0.955ABCA3, SFTPB, SFTPC, CSF2RA, CSF2RB
membrane (GO:0016020) 0.685ABCA3, SFTPB, SFTPC, CSF2RA, CSF2RB
cell part (GO:0044464) 0.115ABCA3, SFTPB, SFTPC, CSF2RA, CSF2RB
integral component of membrane (GO:0016021) 1.144ABCA3, SFTPC, CSF2RA, CSF2RB
intrinsic component of membrane (GO:0031224) 1.134ABCA3, SFTPC, CSF2RA, CSF2RB
intracellular membrane-bounded organelle (GO:0043231) 0.63ABCA3, SFTPB, SFTPC
extracellular space (GO:0005615) 2.633ABCA3, SFTPB, SFTPC
secretory vesicle (GO:0099503) 4.03ABCA3, SFTPB, SFTPC
cytoplasmic, membrane-bounded vesicle (GO:0016023) 3.123ABCA3, SFTPB, SFTPC
cytoplasmic vesicle (GO:0031410) 2.873ABCA3, SFTPB, SFTPC
plasma membrane (GO:0005886) 1.393ABCA3, CSF2RA, CSF2RB
cytoplasmic part (GO:0044444) 0.823ABCA3, SFTPB, SFTPC
membrane-bounded vesicle (GO:0031988) 1.713ABCA3, SFTPB, SFTPC
intracellular organelle part (GO:0044446) 0.813ABCA3, SFTPB, SFTPC
extracellular region part (GO:0044421) 1.573ABCA3, SFTPB, SFTPC
intracellular organelle (GO:0043229) 0.513ABCA3, SFTPB, SFTPC
extracellular region (GO:0005576) 2.183SFTPB, SFTPC, CSF2RA
intracellular vesicle (GO:0097708) 2.863ABCA3, SFTPB, SFTPC
secretory granule (GO:0030141) 4.343ABCA3, SFTPB, SFTPC
intracellular part (GO:0044424) 0.283ABCA3, SFTPB, SFTPC
lamellar body (GO:0042599) 6.863ABCA3, SFTPB, SFTPC
membrane-bounded organelle (GO:0043227) 0.473ABCA3, SFTPB, SFTPC
organelle (GO:0043226) 0.43ABCA3, SFTPB, SFTPC
organelle part (GO:0044422) 0.793ABCA3, SFTPB, SFTPC
vesicle (GO:0031982) 1.643ABCA3, SFTPB, SFTPC
intracellular (GO:0005622) 2.372CSF2RA, CSF2RB
endosomal part (GO:0044440) 3.732SFTPB, SFTPC
endoplasmic reticulum part (GO:0044432) 2.732SFTPB, SFTPC
alveolar lamellar body (GO:0097208) 7.862ABCA3, SFTPB
coated vesicle (GO:0030135) 4.942SFTPB, SFTPC
organelle lumen (GO:0043233) 3.052SFTPB, SFTPC
membrane-enclosed lumen (GO:0031974) 3.052SFTPB, SFTPC
endoplasmic reticulum membrane (GO:0005789) 2.952SFTPB, SFTPC
endocytic vesicle (GO:0030139) 5.042SFTPB, SFTPC
intracellular organelle lumen (GO:0070013) 3.052SFTPB, SFTPC
clathrin-coated endocytic vesicle (GO:0045334) 6.972SFTPB, SFTPC
vacuolar part (GO:0044437) 3.262SFTPB, SFTPC
vacuolar lumen (GO:0005775) 5.062SFTPB, SFTPC
integral component of plasma membrane (GO:0005887) 2.572CSF2RA, CSF2RB
multivesicular body lumen (GO:0097486) 7.862SFTPB, SFTPC
late endosome lumen (GO:0031906) 7.862SFTPB, SFTPC
plasma membrane part (GO:0044459) 1.952CSF2RA, CSF2RB
endosome lumen (GO:0031904) 6.542SFTPB, SFTPC
intrinsic component of plasma membrane (GO:0031226) 2.532CSF2RA, CSF2RB
clathrin-coated vesicle (GO:0030136) 5.262SFTPB, SFTPC

NET-GE enrichment

Term New enriched termICP valueGenes
alveolar lamellar body (GO:0097208) -7.860.0ABCA3, SFTPC
secretory granule (GO:0030141) -4.340.041ABCA3, SFTPC
lamellar body (GO:0042599) -6.860.001ABCA3, SFTPC