Disease table of APLASTIC ANEMIA OMIM ID: 609135

Gene-disease associations table

GeneAssociated with APLASTIC ANEMIA inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
IFNGOMIMHGNC link12q155609135, PS191100, 609532, 607948, 609423
SBDSOMIMHGNC link7q11.212260400, 609135
NBNOMIMHGNC link8q21.34609135, 613065, 114480, 251260
PRF1OMIMHGNC link10q22.13609135, 605027, 603553

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
STAT4NO12MYC, S100A4, IL2RA, NOX1, IRF1, IFNG, NOX4, SOCS3, PIM1, TBX21, STAT1, PRF12PRF1, IFNG
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
IFNGYES29BCL6, TFAP4, NFATC2, TBX21, EGR1, NFKB1, CREB1, STAT5A, NFATC1, JUN, GATA1, ATF2, RELA, PARP1, GATA3, EP300, STAT1, STAT3, PROX1, RFX5, EOMES, YY1, NFIL3, STAT5B, MSC, MYCN, STAT4, IRF1, USF10
NBNYES2MYC, SIRT10
PRF1YES1STAT40
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
SBDSNBNNo2TERF2IP, TERF1

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

Interactions from BIOGRID - genetic
Interactions from STRING
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
Natural killer cell mediated cytotoxicityhsa046505.532PRF1, IFNG
Graft-versus-host diseasehsa053326.842PRF1, IFNG
Allograft rejectionhsa053306.912PRF1, IFNG
Type I diabetes mellitushsa049406.792PRF1, IFNG

NET-GE enrichment

Term New enriched termICP valueGenes
Type I diabetes mellitus (hsa04940) -6.790.025PRF1, IFNG
Allograft rejection (hsa05330) -6.910.039PRF1, IFNG
Graft-versus-host disease (hsa05332) -6.840.023PRF1, IFNG
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
binding (GO:0005488) 0.184NBN, PRF1, IFNG, SBDS
protein binding (GO:0005515) 0.464NBN, PRF1, IFNG, SBDS
organic cyclic compound binding (GO:0097159) 1.052NBN, SBDS
heterocyclic compound binding (GO:1901363) 1.062NBN, SBDS
nucleic acid binding (GO:0003676) 1.442NBN, SBDS
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
immune system process (GO:0002376) 2.294NBN, PRF1, SBDS, IFNG
cellular process (GO:0009987) 0.264NBN, PRF1, SBDS, IFNG
single-organism cellular process (GO:0044763) 0.654NBN, PRF1, IFNG, SBDS
single-organism process (GO:0044699) 0.484NBN, PRF1, SBDS, IFNG
response to stimulus (GO:0050896) 1.223NBN, PRF1, IFNG
cellular component organization (GO:0016043) 1.243NBN, PRF1, SBDS
response to stress (GO:0006950) 1.83NBN, PRF1, IFNG
cell cycle process (GO:0022402) 2.753NBN, SBDS, IFNG
immune effector process (GO:0002252) 3.583NBN, PRF1, IFNG
cellular component organization or biogenesis (GO:0071840) 1.223NBN, PRF1, SBDS
regulation of phosphate metabolic process (GO:0019220) 2.352NBN, IFNG
regulation of primary metabolic process (GO:0080090) 1.082NBN, IFNG
regulation of metabolic process (GO:0019222) 1.022NBN, IFNG
regulation of response to stimulus (GO:0048583) 1.542NBN, IFNG
signal transduction (GO:0007165) 1.282NBN, IFNG
cell chemotaxis (GO:0060326) 4.632IFNG, SBDS
organic cyclic compound metabolic process (GO:1901360) 1.262NBN, SBDS
cellular response to stimulus (GO:0051716) 1.972NBN, IFNG
negative regulation of cell cycle (GO:0045786) 3.672NBN, IFNG
positive regulation of macromolecule metabolic process (GO:0010604) 1.812NBN, IFNG
response to external biotic stimulus (GO:0043207) 3.132PRF1, IFNG
regulation of signal transduction (GO:0009966) 1.842NBN, IFNG
response to virus (GO:0009615) 4.212PRF1, IFNG
regulation of cellular metabolic process (GO:0031323) 1.072NBN, IFNG
cell activation involved in immune response (GO:0002263) 4.862NBN, IFNG
interspecies interaction between organisms (GO:0044419) 3.082PRF1, IFNG
positive regulation of molecular function (GO:0044093) 2.232NBN, IFNG
positive regulation of biological process (GO:0048518) 1.22NBN, IFNG
negative regulation of biological process (GO:0048519) 1.332NBN, IFNG
system process (GO:0003008) 2.32NBN, IFNG
leukocyte chemotaxis (GO:0030595) 4.962IFNG, SBDS
positive regulation of DNA metabolic process (GO:0051054) 4.492NBN, IFNG
chemotaxis (GO:0006935) 4.042SBDS, IFNG
regulation of macromolecule metabolic process (GO:0060255) 1.082NBN, IFNG
lymphocyte activation (GO:0046649) 3.962NBN, IFNG
response to other organism (GO:0051707) 3.482PRF1, IFNG
multi-organism process (GO:0051704) 2.652PRF1, IFNG
regulation of phosphorylation (GO:0042325) 2.52NBN, IFNG
positive regulation of phosphorylation (GO:0042327) 2.92NBN, IFNG
regulation of biological quality (GO:0065008) 1.682NBN, IFNG
response to biotic stimulus (GO:0009607) 3.092PRF1, IFNG
response to external stimulus (GO:0009605) 2.552PRF1, IFNG
cell motility (GO:0048870) 3.022IFNG, SBDS
cellular response to stress (GO:0033554) 2.512NBN, IFNG
cellular component assembly (GO:0022607) 2.142PRF1, SBDS
negative regulation of metabolic process (GO:0009892) 1.932NBN, IFNG
positive regulation of metabolic process (GO:0009893) 1.742NBN, IFNG
movement of cell or subcellular component (GO:0006928) 2.612SBDS, IFNG
leukocyte activation (GO:0045321) 3.762NBN, IFNG
nitrogen compound metabolic process (GO:0006807) 1.132NBN, SBDS
regulation of biological process (GO:0050789) 0.452NBN, IFNG
cellular macromolecule metabolic process (GO:0044260) 0.932NBN, SBDS
lymphocyte activation involved in immune response (GO:0002285) 5.222NBN, IFNG
heterocycle metabolic process (GO:0046483) 1.312NBN, SBDS
macromolecular complex assembly (GO:0065003) 2.552PRF1, SBDS
leukocyte activation involved in immune response (GO:0002366) 4.882NBN, IFNG
biological regulation (GO:0065007) 0.392NBN, IFNG
regulation of molecular function (GO:0065009) 1.782NBN, IFNG
cell migration (GO:0016477) 3.122IFNG, SBDS
positive regulation of cellular component organization (GO:0051130) 2.682NBN, IFNG
regulation of catalytic activity (GO:0050790) 1.972NBN, IFNG
transport (GO:0006810) 1.512PRF1, IFNG
regulation of biosynthetic process (GO:0009889) 1.372NBN, IFNG
regulation of cellular process (GO:0050794) 0.52NBN, IFNG
defense response (GO:0006952) 2.782PRF1, IFNG
programmed cell death (GO:0012501) 3.12PRF1, IFNG
cell activation (GO:0001775) 3.472NBN, IFNG
metabolic process (GO:0008152) 0.582NBN, SBDS
immune response (GO:0006955) 2.862PRF1, IFNG
negative regulation of macromolecule metabolic process (GO:0010605) 2.012NBN, IFNG
regulation of intracellular signal transduction (GO:1902531) 2.312NBN, IFNG
cell cycle arrest (GO:0007050) 4.692NBN, IFNG
defense response to virus (GO:0051607) 4.632PRF1, IFNG
positive regulation of protein modification process (GO:0031401) 2.72NBN, IFNG
regulation of macromolecule biosynthetic process (GO:0010556) 1.432NBN, IFNG
single-organism developmental process (GO:0044767) 1.492NBN, SBDS
regulation of cellular component organization (GO:0051128) 2.012NBN, IFNG
cellular nitrogen compound metabolic process (GO:0034641) 1.222NBN, SBDS
regulation of signaling (GO:0023051) 1.722NBN, IFNG
regulation of cell communication (GO:0010646) 1.732NBN, IFNG
positive regulation of catalytic activity (GO:0043085) 2.42NBN, IFNG
nucleobase-containing compound metabolic process (GO:0006139) 1.352NBN, SBDS
establishment of localization (GO:0051234) 1.482PRF1, IFNG
positive regulation of phosphorus metabolic process (GO:0010562) 2.782NBN, IFNG
regulation of protein metabolic process (GO:0051246) 1.932NBN, IFNG
positive regulation of protein metabolic process (GO:0051247) 2.432NBN, IFNG
positive regulation of cellular protein metabolic process (GO:0032270) 2.492NBN, IFNG
regulation of protein modification process (GO:0031399) 2.322NBN, IFNG
developmental process (GO:0032502) 1.362NBN, SBDS
organelle organization (GO:0006996) 2.022NBN, SBDS
multicellular organismal process (GO:0032501) 1.452NBN, IFNG
cell proliferation (GO:0008283) 3.232NBN, SBDS
neurological system process (GO:0050877) 2.642NBN, IFNG
cellular aromatic compound metabolic process (GO:0006725) 1.32NBN, SBDS
defense response to other organism (GO:0098542) 3.752PRF1, IFNG
regulation of cellular protein metabolic process (GO:0032268) 1.992NBN, IFNG
macromolecule metabolic process (GO:0043170) 0.832NBN, SBDS
anatomical structure development (GO:0048856) 1.582NBN, SBDS
macromolecular complex subunit organization (GO:0043933) 2.142PRF1, SBDS
regulation of cellular biosynthetic process (GO:0031326) 1.382NBN, IFNG
positive regulation of cellular metabolic process (GO:0031325) 1.812NBN, IFNG
negative regulation of cellular metabolic process (GO:0031324) 2.012NBN, IFNG
apoptotic signaling pathway (GO:0097190) 4.122NBN, IFNG
mitotic cell cycle process (GO:1903047) 3.122NBN, SBDS
nucleic acid metabolic process (GO:0090304) 1.462NBN, SBDS
leukocyte migration (GO:0050900) 4.192IFNG, SBDS
cell death (GO:0008219) 3.052PRF1, IFNG
regulation of DNA metabolic process (GO:0051052) 3.872NBN, IFNG
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.462NBN, IFNG
organic substance metabolic process (GO:0071704) 0.632NBN, SBDS
positive regulation of nucleobase-containing compound metabolic process (GO:0045935) 2.352NBN, IFNG
negative regulation of nucleobase-containing compound metabolic process (GO:0045934) 2.552NBN, IFNG
positive regulation of phosphate metabolic process (GO:0045937) 2.782NBN, IFNG
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.432NBN, IFNG
apoptotic process (GO:0006915) 3.142PRF1, IFNG
regulation of phosphorus metabolic process (GO:0051174) 2.352NBN, IFNG
multi-organism cellular process (GO:0044764) 3.142PRF1, IFNG
regulation of nitrogen compound metabolic process (GO:0051171) 1.362NBN, IFNG
negative regulation of nitrogen compound metabolic process (GO:0051172) 2.472NBN, IFNG
positive regulation of nitrogen compound metabolic process (GO:0051173) 2.292NBN, IFNG
localization (GO:0051179) 1.42PRF1, IFNG
locomotion (GO:0040011) 2.912SBDS, IFNG
primary metabolic process (GO:0044238) 0.692NBN, SBDS
regulation of cell cycle (GO:0051726) 2.932NBN, IFNG
taxis (GO:0042330) 4.032SBDS, IFNG
cellular metabolic process (GO:0044237) 0.692NBN, SBDS
viral process (GO:0016032) 3.152PRF1, IFNG
symbiosis, encompassing mutualism through parasitism (GO:0044403) 3.152PRF1, IFNG
regulation of protein phosphorylation (GO:0001932) 2.572NBN, IFNG
positive regulation of protein phosphorylation (GO:0001934) 2.952NBN, IFNG
negative regulation of cellular process (GO:0048523) 1.412NBN, IFNG
positive regulation of cellular process (GO:0048522) 1.32NBN, IFNG

NET-GE enrichment

Term New enriched termICP valueGenes
cell activation involved in immune response (GO:0002263) -4.860.027NBN, PRF1, IFNG
positive regulation of DNA recombination (GO:0045911) NEW6.840.038NBN, IFNG
leukocyte activation involved in immune response (GO:0002366) -4.880.027NBN, PRF1, IFNG
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cell part (GO:0044464) 0.114NBN, PRF1, SBDS, IFNG
intracellular membrane-bounded organelle (GO:0043231) 0.63NBN, PRF1, SBDS
intracellular organelle part (GO:0044446) 0.813NBN, PRF1, SBDS
intracellular organelle (GO:0043229) 0.513NBN, PRF1, SBDS
intracellular part (GO:0044424) 0.283NBN, PRF1, SBDS
membrane-bounded organelle (GO:0043227) 0.473NBN, PRF1, SBDS
organelle (GO:0043226) 0.43NBN, PRF1, SBDS
organelle part (GO:0044422) 0.793NBN, PRF1, SBDS
intracellular non-membrane-bounded organelle (GO:0043232) 1.762NBN, SBDS
nucleolus (GO:0005730) 3.062NBN, SBDS
nucleus (GO:0005634) 1.072NBN, SBDS
nucleoplasm (GO:0005654) 1.892NBN, SBDS
cytoplasmic part (GO:0044444) 0.822NBN, PRF1
non-membrane-bounded organelle (GO:0043228) 1.762NBN, SBDS
nuclear part (GO:0044428) 1.552NBN, SBDS
membrane part (GO:0044425) 0.952PRF1, IFNG
extracellular region (GO:0005576) 2.182PRF1, IFNG

NET-GE enrichment

Term New enriched termICP valueGenes
endosome lumen (GO:0031904) NEW6.540.001PRF1, IFNG