Disease table of MYELODYSPLASTIC SYNDROME OMIM ID: 614286

Gene-disease associations table

GeneAssociated with MYELODYSPLASTIC SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
ASXL1OMIMHGNC link20q11.212614286, 605039
SF3B1OMIMHGNC link2q33.11614286
TET2OMIMHGNC link4q241614286
GATA2ClinVar, OMIM, HUMSAVARHGNC link3q21.34601626, 614286, 614038, 614172
SETBP1HUMSAVARHGNC link18q12.36601626, 614286, 608232, 269150, PS156200, 607785

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
ASXL1YES1FABP40
GATA2YES16WT1, PECAM1, CEBPA, DPYSL2, SPI1, PRG2, NOS3, CYBB, EPO, TSHB, GATA1, IL1RL1, ANGPT2, ERVW-1, PPARG, ADH1A0
SETBP1YES3PTGS2, PTGER2, PPP2R40
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
ASXL1YES1SOX20
GATA2YES1NANOG0
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
ASXL1SF3B1No3EED, EZH2, FOXK2
ASXL1TET2No1OGT
ASXL1GATA2No1AKT1
ASXL1SETBP1No1APP
SF3B1GATA2No3HDAC3, HDAC5, CUL1

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
ASXL1SF3B1No-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 (no NET-GE enrichment)

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Gene ExpressionR-HSA-741602.722TET2, SF3B1
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.185GATA2, ASXL1, SETBP1, SF3B1, TET2
organic cyclic compound binding (GO:0097159) 1.055GATA2, ASXL1, SETBP1, SF3B1, TET2
heterocyclic compound binding (GO:1901363) 1.065GATA2, ASXL1, SETBP1, SF3B1, TET2
nucleic acid binding (GO:0003676) 1.445GATA2, ASXL1, SETBP1, SF3B1, TET2
protein binding (GO:0005515) 0.465GATA2, ASXL1, SETBP1, SF3B1, TET2
DNA binding (GO:0003677) 1.924SETBP1, ASXL1, TET2, GATA2
cation binding (GO:0043169) 1.43ASXL1, TET2, GATA2
metal ion binding (GO:0046872) 1.413ASXL1, TET2, GATA2
ion binding (GO:0043167) 1.363ASXL1, TET2, GATA2
transcription factor binding (GO:0008134) 3.462ASXL1, GATA2
zinc ion binding (GO:0008270) 2.662TET2, GATA2
transition metal ion binding (GO:0046914) 2.482TET2, GATA2

NET-GE enrichment

Term New enriched termICP valueGenes
nucleic acid binding (GO:0003676) -1.440.039SETBP1, ASXL1, SF3B1, GATA2, TET2
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
positive regulation of metabolic process (GO:0009893) 1.744ASXL1, SF3B1, GATA2, TET2
regulation of metabolic process (GO:0019222) 1.024GATA2, ASXL1, SF3B1, TET2
nucleic acid metabolic process (GO:0090304) 1.464GATA2, ASXL1, SF3B1, TET2
cellular nitrogen compound metabolic process (GO:0034641) 1.224GATA2, ASXL1, SF3B1, TET2
nitrogen compound metabolic process (GO:0006807) 1.134ASXL1, SF3B1, GATA2, TET2
regulation of biological process (GO:0050789) 0.454ASXL1, SF3B1, GATA2, TET2
organic cyclic compound metabolic process (GO:1901360) 1.264GATA2, ASXL1, SF3B1, TET2
nucleobase-containing compound metabolic process (GO:0006139) 1.354ASXL1, SF3B1, GATA2, TET2
positive regulation of macromolecule metabolic process (GO:0010604) 1.814GATA2, ASXL1, SF3B1, TET2
cellular macromolecule metabolic process (GO:0044260) 0.934GATA2, ASXL1, SF3B1, TET2
organic substance metabolic process (GO:0071704) 0.634ASXL1, SF3B1, GATA2, TET2
biological regulation (GO:0065007) 0.394GATA2, ASXL1, SF3B1, TET2
positive regulation of biological process (GO:0048518) 1.24ASXL1, SF3B1, GATA2, TET2
regulation of gene expression (GO:0010468) 1.374ASXL1, SF3B1, GATA2, TET2
regulation of macromolecule metabolic process (GO:0060255) 1.084GATA2, ASXL1, SF3B1, TET2
cellular process (GO:0009987) 0.264ASXL1, SF3B1, GATA2, TET2
cellular aromatic compound metabolic process (GO:0006725) 1.34GATA2, ASXL1, SF3B1, TET2
metabolic process (GO:0008152) 0.584GATA2, ASXL1, SF3B1, TET2
heterocycle metabolic process (GO:0046483) 1.314ASXL1, SF3B1, GATA2, TET2
primary metabolic process (GO:0044238) 0.694GATA2, ASXL1, SF3B1, TET2
cellular metabolic process (GO:0044237) 0.694GATA2, ASXL1, SF3B1, TET2
macromolecule metabolic process (GO:0043170) 0.834ASXL1, SF3B1, GATA2, TET2
positive regulation of gene expression (GO:0010628) 2.354ASXL1, SF3B1, GATA2, TET2
positive regulation of nucleic acid-templated transcription (GO:1903508) 2.563ASXL1, TET2, GATA2
regulation of RNA metabolic process (GO:0051252) 1.523ASXL1, TET2, GATA2
regulation of primary metabolic process (GO:0080090) 1.083ASXL1, TET2, GATA2
positive regulation of biosynthetic process (GO:0009891) 2.293ASXL1, TET2, GATA2
macromolecular complex subunit organization (GO:0043933) 2.143ASXL1, TET2, SF3B1
regulation of cellular biosynthetic process (GO:0031326) 1.383ASXL1, TET2, GATA2
positive regulation of cellular metabolic process (GO:0031325) 1.813ASXL1, TET2, GATA2
positive regulation of nitrogen compound metabolic process (GO:0051173) 2.293ASXL1, TET2, GATA2
regulation of cellular metabolic process (GO:0031323) 1.073ASXL1, TET2, GATA2
anatomical structure morphogenesis (GO:0009653) 2.533ASXL1, TET2, GATA2
single-organism process (GO:0044699) 0.483ASXL1, TET2, GATA2
regulation of transcription from RNA polymerase II promoter (GO:0006357) 2.243ASXL1, TET2, GATA2
regulation of nitrogen compound metabolic process (GO:0051171) 1.363ASXL1, TET2, GATA2
positive regulation of cellular biosynthetic process (GO:0031328) 2.33ASXL1, TET2, GATA2
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.463ASXL1, TET2, GATA2
cellular component organization (GO:0016043) 1.243ASXL1, TET2, SF3B1
animal organ development (GO:0048513) 2.533ASXL1, TET2, GATA2
cellular component organization or biogenesis (GO:0071840) 1.223ASXL1, TET2, SF3B1
developmental process (GO:0032502) 1.363ASXL1, TET2, GATA2
organ morphogenesis (GO:0009887) 3.553ASXL1, TET2, GATA2
positive regulation of nucleobase-containing compound metabolic process (GO:0045935) 2.353ASXL1, TET2, GATA2
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.433ASXL1, TET2, GATA2
regulation of biosynthetic process (GO:0009889) 1.373ASXL1, TET2, GATA2
regulation of nucleic acid-templated transcription (GO:1903506) 1.553ASXL1, TET2, GATA2
regulation of cellular process (GO:0050794) 0.53ASXL1, TET2, GATA2
single-organism developmental process (GO:0044767) 1.493ASXL1, TET2, GATA2
positive regulation of transcription, DNA-templated (GO:0045893) 2.563ASXL1, TET2, GATA2
regulation of RNA biosynthetic process (GO:2001141) 1.553ASXL1, TET2, GATA2
response to chemical (GO:0042221) 1.983ASXL1, TET2, GATA2
response to organic substance (GO:0010033) 2.23ASXL1, TET2, GATA2
RNA metabolic process (GO:0016070) 1.593ASXL1, GATA2, SF3B1
response to stimulus (GO:0050896) 1.223ASXL1, TET2, GATA2
anatomical structure development (GO:0048856) 1.583ASXL1, TET2, GATA2
positive regulation of RNA metabolic process (GO:0051254) 2.513ASXL1, TET2, GATA2
positive regulation of RNA biosynthetic process (GO:1902680) 2.543ASXL1, TET2, GATA2
regulation of transcription, DNA-templated (GO:0006355) 1.563ASXL1, TET2, GATA2
positive regulation of macromolecule biosynthetic process (GO:0010557) 2.393ASXL1, TET2, GATA2
regulation of macromolecule biosynthetic process (GO:0010556) 1.433ASXL1, TET2, GATA2
positive regulation of transcription from RNA polymerase II promoter (GO:0045944) 2.813ASXL1, TET2, GATA2
positive regulation of cellular process (GO:0048522) 1.33ASXL1, TET2, GATA2
negative regulation of metabolic process (GO:0009892) 1.932ASXL1, GATA2
RNA biosynthetic process (GO:0032774) 1.842ASXL1, GATA2
negative regulation of biosynthetic process (GO:0009890) 2.472ASXL1, GATA2
negative regulation of cellular biosynthetic process (GO:0031327) 2.492ASXL1, GATA2
negative regulation of response to stimulus (GO:0048585) 2.522ASXL1, GATA2
cell differentiation (GO:0030154) 2.142TET2, GATA2
regulation of response to stimulus (GO:0048583) 1.542ASXL1, GATA2
homeostatic process (GO:0042592) 2.612TET2, GATA2
cellular biosynthetic process (GO:0044249) 1.372ASXL1, GATA2
negative regulation of gene expression (GO:0010629) 2.482ASXL1, GATA2
negative regulation of cell communication (GO:0010648) 2.662ASXL1, GATA2
cellular macromolecule biosynthetic process (GO:0034645) 1.662ASXL1, GATA2
regulation of signaling (GO:0023051) 1.722ASXL1, GATA2
regulation of cell differentiation (GO:0045595) 2.422ASXL1, GATA2
regulation of cell communication (GO:0010646) 1.732ASXL1, GATA2
organic cyclic compound biosynthetic process (GO:1901362) 1.662ASXL1, GATA2
nucleic acid-templated transcription (GO:0097659) 1.912ASXL1, GATA2
cellular protein metabolic process (GO:0044267) 1.632ASXL1, TET2
negative regulation of macromolecule metabolic process (GO:0010605) 2.012ASXL1, GATA2
negative regulation of signal transduction (GO:0009968) 2.752ASXL1, GATA2
negative regulation of transcription from RNA polymerase II promoter (GO:0000122) 3.122ASXL1, GATA2
chromatin organization (GO:0006325) 3.282ASXL1, TET2
response to lipid (GO:0033993) 3.112ASXL1, GATA2
negative regulation of cellular macromolecule biosynthetic process (GO:2000113) 2.62ASXL1, GATA2
histone modification (GO:0016570) 3.912ASXL1, TET2
negative regulation of biological process (GO:0048519) 1.332ASXL1, GATA2
negative regulation of cellular metabolic process (GO:0031324) 2.012ASXL1, GATA2
regulation of biological quality (GO:0065008) 1.682TET2, GATA2
heterocycle biosynthetic process (GO:0018130) 1.72ASXL1, GATA2
multicellular organismal process (GO:0032501) 1.452TET2, GATA2
negative regulation of nucleobase-containing compound metabolic process (GO:0045934) 2.552ASXL1, GATA2
organic substance biosynthetic process (GO:1901576) 1.342ASXL1, GATA2
cellular protein modification process (GO:0006464) 1.792ASXL1, TET2
negative regulation of nucleic acid-templated transcription (GO:1903507) 2.712ASXL1, GATA2
negative regulation of RNA biosynthetic process (GO:1902679) 2.72ASXL1, GATA2
negative regulation of cell differentiation (GO:0045596) 3.332ASXL1, GATA2
macromolecule modification (GO:0043412) 1.732ASXL1, TET2
macromolecule biosynthetic process (GO:0009059) 1.612ASXL1, GATA2
single-organism cellular process (GO:0044763) 0.652TET2, GATA2
negative regulation of nitrogen compound metabolic process (GO:0051172) 2.472ASXL1, GATA2
hemopoiesis (GO:0030097) 5.072TET2, GATA2
nucleobase-containing compound biosynthetic process (GO:0034654) 1.722ASXL1, GATA2
hematopoietic or lymphoid organ development (GO:0048534) 4.492TET2, GATA2
negative regulation of fat cell differentiation (GO:0045599) 5.992ASXL1, GATA2
regulation of fat cell differentiation (GO:0045598) 5.042ASXL1, GATA2
transcription, DNA-templated (GO:0006351) 1.912ASXL1, GATA2
cellular nitrogen compound biosynthetic process (GO:0044271) 1.592ASXL1, GATA2
homeostasis of number of cells (GO:0048872) 4.982TET2, GATA2
single-multicellular organism process (GO:0044707) 1.782TET2, GATA2
negative regulation of signaling (GO:0023057) 2.652ASXL1, GATA2
protein metabolic process (GO:0019538) 1.452ASXL1, TET2
negative regulation of RNA metabolic process (GO:0051253) 2.662ASXL1, GATA2
biosynthetic process (GO:0009058) 1.322ASXL1, GATA2
regulation of signal transduction (GO:0009966) 1.842ASXL1, GATA2
protein modification process (GO:0036211) 1.792ASXL1, TET2
negative regulation of cellular process (GO:0048523) 1.412ASXL1, GATA2
cellular developmental process (GO:0048869) 1.822TET2, GATA2
aromatic compound biosynthetic process (GO:0019438) 1.72ASXL1, GATA2
negative regulation of transcription, DNA-templated (GO:0045892) 2.752ASXL1, GATA2
negative regulation of macromolecule biosynthetic process (GO:0010558) 2.532ASXL1, GATA2
chromatin modification (GO:0016568) 4.062ASXL1, TET2
covalent chromatin modification (GO:0016569) 3.892ASXL1, TET2

NET-GE enrichment

Term New enriched termICP valueGenes
negative regulation of fat cell differentiation (GO:0045599) -5.990.008ASXL1, GATA2
regulation of fat cell differentiation (GO:0045598) -5.040.038ASXL1, GATA2
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) 0.64SETBP1, ASXL1, SF3B1, GATA2
nucleus (GO:0005634) 1.074SETBP1, ASXL1, GATA2, SF3B1
cell part (GO:0044464) 0.114SETBP1, ASXL1, GATA2, SF3B1
intracellular organelle (GO:0043229) 0.514SETBP1, ASXL1, GATA2, SF3B1
intracellular part (GO:0044424) 0.284SETBP1, ASXL1, SF3B1, GATA2
membrane-bounded organelle (GO:0043227) 0.474SETBP1, ASXL1, GATA2, SF3B1
organelle (GO:0043226) 0.44SETBP1, ASXL1, GATA2, SF3B1
intracellular organelle part (GO:0044446) 0.813ASXL1, GATA2, SF3B1
nuclear part (GO:0044428) 1.553ASXL1, SF3B1, GATA2
macromolecular complex (GO:0032991) 1.353ASXL1, SF3B1, GATA2
organelle part (GO:0044422) 0.793ASXL1, SF3B1, GATA2
nucleoplasm (GO:0005654) 1.892SF3B1, GATA2
protein complex (GO:0043234) 1.512ASXL1, GATA2