Disease table of NEUTROPENIA, SEVERE CONGENITAL OMIM ID: PS202700

Gene-disease associations table

GeneAssociated with NEUTROPENIA, SEVERE CONGENITAL inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
VPS45ClinVar, OMIM, HUMSAVARHGNC link1q21.21PS202700
ELANEClinVar, OMIM, HUMSAVARHGNC link19p13.32162800, PS202700
GFI1ClinVar, OMIM, HUMSAVARHGNC link1p22.12PS202700, 607847
HAX1ClinVar, OMIM, HUMSAVARHGNC link1q21.31PS202700
G6PC3ClinVar, OMIM, HUMSAVARHGNC link17q21.311PS202700
JAGN1ClinVar, OMIM, HUMSAVARHGNC link3p25.31PS202700
WASClinVar, OMIM, HUMSAVARHGNC linkXp11.233313900, 301000, PS202700

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
1q212HAX1, VPS45
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
1q22HAX1, VPS45
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
1q2HAX1, VPS45
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
13GFI1, HAX1, VPS45
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
GFI1YES5CYP27B1, CDKN1A, BAX, ELANE, NF11ELANE
HAX1YES1ATP2A20
SPI1NO59ALOX15, PARG, TEC, MS4A1, FCER1A, ITGA2B, FCGR1A, SCARB1, CD22, MSR1, IL12B, CD40, NSFL1C, CLEC4G, IL5, BCL6, CCL5, IGJ, BPI, ELANE, TNF, ITGAM, PTGIR, FLI1, IL1B, MACROD1, MNDA, P2RY10, NCF2, CSF2RA, ZNF300, TNFRSF11A, ACP5, WAS, CTSS, CD163, ITGB2, CYBB, SCARB2, CXCR1, CD68, ERAP2, CSF1, RNASE2, ITGAX, PRG2, MAPK1, IL18, CSF3R, PEBP1, FES, CTSK, TLR4, IFIT3, BTK, GATA1, MME, CTSG, PRTN32ELANE, WAS
MYBNO33COL1A2, MYB, COL1A1, IL7, CEBPA, CTSG, GSTM1, IL15, SIM2, ERBB2, RAG2, TK1, WAS, CLEC4G, CDO1, LCK, DHRS2, CD34, GATA1, ICAM1, ANPEP, GATA3, BCL2, NR3C1, CD4, CCNA1, CSF3R, ELANE, SP3, NMU, MYC, MAT2A, PRTN32ELANE, WAS
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
ELANEYES7RUNX2, LEF1, SPI1, GFI1, MYB, CEBPA, RUNX11GFI1
HAX1YES1NFKB10
WASYES4SP1, MYB, ETS1, SPI10
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
VPS45HAX1No2NTRK1, RAB5A
GFI1WASNo1RELA

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 (no shared terms)
REACTOME pathways annotation: NET-GE enrichment (no shared terms)

NET-GE enrichment

Term New enriched termICP valueGenes
Synthesis of Leukotrienes (LT) and Eoxins (EX) (R-HSA-2142691) NEW8.590.021ELANE, HAX1
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.186GFI1, JAGN1, HAX1, ELANE, VPS45, WAS
protein binding (GO:0005515) 0.466GFI1, JAGN1, HAX1, ELANE, VPS45, WAS
hydrolase activity (GO:0016787) 1.92ELANE, G6PC3
cytokine binding (GO:0019955) 5.212ELANE, HAX1
enzyme binding (GO:0019899) 2.272ELANE, WAS
catalytic activity (GO:0003824) 1.052ELANE, G6PC3

NET-GE enrichment

Term New enriched termICP valueGenes
actin binding (GO:0003779) NEW3.740.049WAS, VPS45, GFI1, HAX1
cytokine binding (GO:0019955) -5.210.017ELANE, HAX1
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cellular process (GO:0009987) 0.267G6PC3, GFI1, JAGN1, HAX1, ELANE, VPS45, WAS
single-organism process (GO:0044699) 0.487G6PC3, GFI1, JAGN1, HAX1, ELANE, VPS45, WAS
biological regulation (GO:0065007) 0.396GFI1, JAGN1, HAX1, ELANE, VPS45, WAS
single-organism cellular process (GO:0044763) 0.656GFI1, JAGN1, HAX1, ELANE, VPS45, WAS
response to stimulus (GO:0050896) 1.225WAS, GFI1, JAGN1, HAX1, ELANE
transport (GO:0006810) 1.515JAGN1, ELANE, VPS45, WAS, G6PC3
regulation of biological process (GO:0050789) 0.455WAS, JAGN1, ELANE, HAX1, GFI1
establishment of localization (GO:0051234) 1.485JAGN1, ELANE, VPS45, WAS, G6PC3
localization (GO:0051179) 1.45JAGN1, ELANE, VPS45, WAS, G6PC3
regulation of cellular process (GO:0050794) 0.55WAS, JAGN1, ELANE, HAX1, GFI1
positive regulation of response to stimulus (GO:0048584) 2.184ELANE, WAS, HAX1, GFI1
regulation of response to stimulus (GO:0048583) 1.544WAS, ELANE, HAX1, GFI1
cellular component organization (GO:0016043) 1.244WAS, JAGN1, ELANE, HAX1
regulation of immune system process (GO:0002682) 2.54ELANE, WAS, HAX1, GFI1
cellular component organization or biogenesis (GO:0071840) 1.224ELANE, JAGN1, WAS, HAX1
positive regulation of biological process (GO:0048518) 1.24ELANE, WAS, HAX1, GFI1
negative regulation of biological process (GO:0048519) 1.334ELANE, WAS, HAX1, GFI1
regulation of biological quality (GO:0065008) 1.684WAS, VPS45, ELANE, HAX1
negative regulation of cellular process (GO:0048523) 1.414ELANE, WAS, HAX1, GFI1
positive regulation of cellular process (GO:0048522) 1.34WAS, ELANE, HAX1, GFI1
regulation of primary metabolic process (GO:0080090) 1.083ELANE, GFI1, HAX1
regulation of metabolic process (GO:0019222) 1.023ELANE, GFI1, HAX1
regulation of organelle organization (GO:0033043) 2.723WAS, GFI1, HAX1
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.463ELANE, GFI1, HAX1
regulation of cellular metabolic process (GO:0031323) 1.073ELANE, GFI1, HAX1
regulation of cellular biosynthetic process (GO:0031326) 1.383ELANE, GFI1, HAX1
regulation of cellular component organization (GO:0051128) 2.013WAS, GFI1, HAX1
metabolic process (GO:0008152) 0.583ELANE, G6PC3, GFI1
regulation of signaling (GO:0023051) 1.723ELANE, GFI1, HAX1
positive regulation of cell communication (GO:0010647) 2.413ELANE, GFI1, HAX1
regulation of cell communication (GO:0010646) 1.733ELANE, GFI1, HAX1
response to external biotic stimulus (GO:0043207) 3.133ELANE, JAGN1, GFI1
regulation of signal transduction (GO:0009966) 1.843ELANE, GFI1, HAX1
positive regulation of signal transduction (GO:0009967) 2.53ELANE, GFI1, HAX1
regulation of protein metabolic process (GO:0051246) 1.933ELANE, GFI1, HAX1
organic substance metabolic process (GO:0071704) 0.633ELANE, G6PC3, GFI1
positive regulation of immune system process (GO:0002684) 2.963ELANE, WAS, HAX1
regulation of transcription from RNA polymerase II promoter (GO:0006357) 2.243ELANE, GFI1, HAX1
regulation of protein modification process (GO:0031399) 2.323ELANE, GFI1, HAX1
regulation of molecular function (GO:0065009) 1.783ELANE, WAS, GFI1
regulation of gene expression (GO:0010468) 1.373ELANE, GFI1, HAX1
positive regulation of signaling (GO:0023056) 2.413ELANE, GFI1, HAX1
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.433ELANE, GFI1, HAX1
regulation of catalytic activity (GO:0050790) 1.973ELANE, WAS, GFI1
regulation of biosynthetic process (GO:0009889) 1.373ELANE, GFI1, HAX1
regulation of nucleic acid-templated transcription (GO:1903506) 1.553ELANE, GFI1, HAX1
defense response (GO:0006952) 2.783WAS, JAGN1, ELANE
single-organism transport (GO:0044765) 2.183ELANE, JAGN1, G6PC3
regulation of cellular protein metabolic process (GO:0032268) 1.993ELANE, GFI1, HAX1
organic substance transport (GO:0071702) 2.153JAGN1, VPS45, G6PC3
regulation of multicellular organismal process (GO:0051239) 1.873ELANE, GFI1, HAX1
regulation of RNA biosynthetic process (GO:2001141) 1.553ELANE, GFI1, HAX1
response to chemical (GO:0042221) 1.983ELANE, GFI1, HAX1
movement of cell or subcellular component (GO:0006928) 2.613WAS, JAGN1, ELANE
response to organic substance (GO:0010033) 2.23ELANE, GFI1, HAX1
single-organism localization (GO:1902578) 2.093ELANE, JAGN1, G6PC3
multi-organism process (GO:0051704) 2.653ELANE, JAGN1, GFI1
primary metabolic process (GO:0044238) 0.693ELANE, G6PC3, GFI1
regulation of immune response (GO:0050776) 2.983ELANE, WAS, GFI1
response to biotic stimulus (GO:0009607) 3.093ELANE, JAGN1, GFI1
vesicle-mediated transport (GO:0016192) 2.723ELANE, VPS45, JAGN1
response to external stimulus (GO:0009605) 2.553ELANE, JAGN1, GFI1
regulation of macromolecule metabolic process (GO:0060255) 1.083ELANE, GFI1, HAX1
regulation of RNA metabolic process (GO:0051252) 1.523ELANE, GFI1, HAX1
response to stress (GO:0006950) 1.83WAS, JAGN1, ELANE
immune system process (GO:0002376) 2.293WAS, ELANE, JAGN1
regulation of transcription, DNA-templated (GO:0006355) 1.563ELANE, GFI1, HAX1
regulation of macromolecule biosynthetic process (GO:0010556) 1.433ELANE, GFI1, HAX1
immune effector process (GO:0002252) 3.583WAS, JAGN1, ELANE
regulation of nitrogen compound metabolic process (GO:0051171) 1.363ELANE, GFI1, HAX1
protein localization (GO:0008104) 2.362JAGN1, VPS45
hemostasis (GO:0007599) 4.52WAS, VPS45
blood coagulation (GO:0007596) 4.522WAS, VPS45
regulation of actin polymerization or depolymerization (GO:0008064) 4.652WAS, HAX1
signal transduction (GO:0007165) 1.282WAS, JAGN1
cell surface receptor signaling pathway (GO:0007166) 2.092JAGN1, WAS
regulation of phosphate metabolic process (GO:0019220) 2.352ELANE, HAX1
regulation of defense response (GO:0031347) 3.112ELANE, GFI1
cellular response to stimulus (GO:0051716) 1.972GFI1, HAX1
negative regulation of macromolecule metabolic process (GO:0010605) 2.012ELANE, GFI1
positive regulation of macromolecule metabolic process (GO:0010604) 1.812ELANE, HAX1
cellular developmental process (GO:0048869) 1.822JAGN1, GFI1
positive regulation of cytoskeleton organization (GO:0051495) 4.582WAS, HAX1
regulation of cytoskeleton organization (GO:0051493) 3.722WAS, HAX1
interspecies interaction between organisms (GO:0044419) 3.082ELANE, GFI1
macromolecule localization (GO:0033036) 2.342JAGN1, VPS45
defense response to fungus (GO:0050832) 6.092ELANE, JAGN1
response to other organism (GO:0051707) 3.482ELANE, JAGN1
regulation of phosphorylation (GO:0042325) 2.52ELANE, HAX1
positive regulation of phosphorylation (GO:0042327) 2.92ELANE, HAX1
single-multicellular organism process (GO:0044707) 1.782WAS, VPS45
cell motility (GO:0048870) 3.022ELANE, JAGN1
positive regulation of organelle organization (GO:0010638) 3.382WAS, HAX1
regulation of cellular component size (GO:0032535) 4.212WAS, HAX1
negative regulation of metabolic process (GO:0009892) 1.932ELANE, GFI1
positive regulation of metabolic process (GO:0009893) 1.742ELANE, HAX1
negative regulation of biosynthetic process (GO:0009890) 2.472ELANE, GFI1
positive regulation of biosynthetic process (GO:0009891) 2.292ELANE, HAX1
negative regulation of gene expression (GO:0010629) 2.482ELANE, GFI1
response to lipopolysaccharide (GO:0032496) 4.032ELANE, GFI1
organic substance biosynthetic process (GO:1901576) 1.342G6PC3, GFI1
regulation of anatomical structure size (GO:0090066) 3.782WAS, HAX1
cell migration (GO:0016477) 3.122ELANE, JAGN1
positive regulation of cellular component organization (GO:0051130) 2.682WAS, HAX1
regulation of developmental process (GO:0050793) 2.12GFI1, HAX1
coagulation (GO:0050817) 4.512WAS, VPS45
immune response (GO:0006955) 2.862ELANE, WAS
positive regulation of intracellular signal transduction (GO:1902533) 2.952ELANE, HAX1
regulation of protein complex assembly (GO:0043254) 3.832WAS, HAX1
regulation of intracellular signal transduction (GO:1902531) 2.312ELANE, HAX1
regulation of phosphorus metabolic process (GO:0051174) 2.352ELANE, HAX1
regulation of response to stress (GO:0080134) 2.532ELANE, GFI1
positive regulation of protein modification process (GO:0031401) 2.72ELANE, HAX1
positive regulation of macromolecule biosynthetic process (GO:0010557) 2.392ELANE, HAX1
positive regulation of multicellular organismal process (GO:0051240) 2.492ELANE, HAX1
regulation of actin cytoskeleton organization (GO:0032956) 4.092WAS, HAX1
cell differentiation (GO:0030154) 2.142JAGN1, GFI1
cellular response to chemical stimulus (GO:0070887) 2.572GFI1, HAX1
negative regulation of transcription from RNA polymerase II promoter (GO:0000122) 3.122ELANE, GFI1
positive regulation of phosphorus metabolic process (GO:0010562) 2.782ELANE, HAX1
negative regulation of multicellular organismal process (GO:0051241) 2.842ELANE, GFI1
positive regulation of protein metabolic process (GO:0051247) 2.432ELANE, HAX1
positive regulation of cellular protein metabolic process (GO:0032270) 2.492ELANE, HAX1
regulation of protein polymerization (GO:0032271) 4.572WAS, HAX1
developmental process (GO:0032502) 1.362WAS, GFI1
response to oxygen-containing compound (GO:1901700) 2.572ELANE, GFI1
multicellular organismal process (GO:0032501) 1.452WAS, VPS45
regulation of body fluid levels (GO:0050878) 3.762WAS, VPS45
regulation of actin filament-based process (GO:0032970) 3.972WAS, HAX1
negative regulation of nucleic acid-templated transcription (GO:1903507) 2.712ELANE, GFI1
regulation of cell differentiation (GO:0045595) 2.422GFI1, HAX1
defense response to other organism (GO:0098542) 3.752ELANE, JAGN1
regulation of localization (GO:0032879) 1.942WAS, HAX1
negative regulation of RNA metabolic process (GO:0051253) 2.662ELANE, GFI1
positive regulation of immune response (GO:0050778) 3.42ELANE, WAS
macromolecule metabolic process (GO:0043170) 0.832ELANE, GFI1
response to molecule of bacterial origin (GO:0002237) 3.992ELANE, GFI1
myeloid cell differentiation (GO:0030099) 4.632JAGN1, GFI1
positive regulation of cellular biosynthetic process (GO:0031328) 2.32ELANE, HAX1
negative regulation of cellular biosynthetic process (GO:0031327) 2.492ELANE, GFI1
positive regulation of cellular metabolic process (GO:0031325) 1.812ELANE, HAX1
negative regulation of cellular metabolic process (GO:0031324) 2.012ELANE, GFI1
leukocyte migration (GO:0050900) 4.192ELANE, JAGN1
regulation of actin filament length (GO:0030832) 4.652WAS, HAX1
regulation of actin filament polymerization (GO:0030833) 4.762WAS, HAX1
response to lipid (GO:0033993) 3.112ELANE, GFI1
negative regulation of cellular macromolecule biosynthetic process (GO:2000113) 2.62ELANE, GFI1
cellular response to organic substance (GO:0071310) 2.782GFI1, HAX1
negative regulation of nucleobase-containing compound metabolic process (GO:0045934) 2.552ELANE, GFI1
positive regulation of phosphate metabolic process (GO:0045937) 2.782ELANE, HAX1
negative regulation of RNA biosynthetic process (GO:1902679) 2.72ELANE, GFI1
biosynthetic process (GO:0009058) 1.322G6PC3, GFI1
negative regulation of nitrogen compound metabolic process (GO:0051172) 2.472ELANE, GFI1
leukocyte mediated immunity (GO:0002443) 5.312ELANE, JAGN1
myeloid leukocyte mediated immunity (GO:0002444) 6.842ELANE, JAGN1
neutrophil mediated immunity (GO:0002446) 7.022ELANE, JAGN1
locomotion (GO:0040011) 2.912ELANE, JAGN1
establishment of protein localization (GO:0045184) 2.532JAGN1, VPS45
negative regulation of locomotion (GO:0040013) 4.222ELANE, WAS
regulation of locomotion (GO:0040012) 3.122ELANE, WAS
organelle organization (GO:0006996) 2.022JAGN1, HAX1
response to fungus (GO:0009620) 5.842ELANE, JAGN1
anatomical structure development (GO:0048856) 1.582WAS, GFI1
cellular metabolic process (GO:0044237) 0.692G6PC3, GFI1
negative regulation of macromolecule biosynthetic process (GO:0010558) 2.532ELANE, GFI1
regulation of cellular component biogenesis (GO:0044087) 3.082WAS, HAX1
regulation of multicellular organismal development (GO:2000026) 2.312GFI1, HAX1
protein transport (GO:0015031) 2.622JAGN1, VPS45
negative regulation of transcription, DNA-templated (GO:0045892) 2.752ELANE, GFI1
regulation of protein phosphorylation (GO:0001932) 2.572ELANE, HAX1
positive regulation of protein phosphorylation (GO:0001934) 2.952ELANE, HAX1

NET-GE enrichment

Term New enriched termICP valueGenes
regulation of protein secretion (GO:0050708) NEW3.770.038WAS, JAGN1, HAX1, ELANE
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
intracellular part (GO:0044424) 0.287G6PC3, GFI1, JAGN1, HAX1, ELANE, VPS45, WAS
cell part (GO:0044464) 0.117G6PC3, GFI1, JAGN1, HAX1, ELANE, VPS45, WAS
intracellular organelle (GO:0043229) 0.517G6PC3, GFI1, JAGN1, HAX1, ELANE, VPS45, WAS
membrane-bounded organelle (GO:0043227) 0.477G6PC3, GFI1, JAGN1, HAX1, ELANE, VPS45, WAS
organelle (GO:0043226) 0.47G6PC3, GFI1, JAGN1, HAX1, ELANE, VPS45, WAS
cytoplasmic part (GO:0044444) 0.826G6PC3, JAGN1, HAX1, ELANE, VPS45, WAS
intracellular membrane-bounded organelle (GO:0043231) 0.66G6PC3, GFI1, JAGN1, HAX1, ELANE, VPS45
organelle part (GO:0044422) 0.796G6PC3, GFI1, WAS, HAX1, VPS45, JAGN1
intracellular organelle part (GO:0044446) 0.815JAGN1, VPS45, GFI1, HAX1, G6PC3
membrane (GO:0016020) 0.685JAGN1, WAS, VPS45, G6PC3, HAX1
cytoplasm (GO:0005737) 1.013WAS, ELANE, HAX1
protein complex (GO:0043234) 1.513ELANE, GFI1, HAX1
macromolecular complex (GO:0032991) 1.353ELANE, GFI1, HAX1
vesicle (GO:0031982) 1.643ELANE, WAS, HAX1
integral component of membrane (GO:0016021) 1.143JAGN1, VPS45, G6PC3
membrane-bounded vesicle (GO:0031988) 1.713ELANE, WAS, HAX1
organelle membrane (GO:0031090) 1.973WAS, VPS45, HAX1
membrane part (GO:0044425) 0.953JAGN1, VPS45, G6PC3
intrinsic component of membrane (GO:0031224) 1.133JAGN1, VPS45, G6PC3
endoplasmic reticulum (GO:0005783) 2.563JAGN1, G6PC3, HAX1
cytoskeleton (GO:0005856) 2.552WAS, HAX1
extracellular vesicle (GO:1903561) 1.892ELANE, WAS
extracellular organelle (GO:0043230) 1.892ELANE, WAS
actin cytoskeleton (GO:0015629) 4.392WAS, HAX1
transcriptional repressor complex (GO:0017053) 5.372ELANE, GFI1
cytoplasmic, membrane-bounded vesicle (GO:0016023) 3.122ELANE, HAX1
cytoplasmic vesicle (GO:0031410) 2.872ELANE, HAX1
whole membrane (GO:0098805) 2.852VPS45, HAX1
intracellular non-membrane-bounded organelle (GO:0043232) 1.762WAS, HAX1
extracellular region part (GO:0044421) 1.572ELANE, WAS
endoplasmic reticulum membrane (GO:0005789) 2.952JAGN1, G6PC3
endoplasmic reticulum part (GO:0044432) 2.732JAGN1, G6PC3
non-membrane-bounded organelle (GO:0043228) 1.762WAS, HAX1
nuclear part (GO:0044428) 1.552GFI1, HAX1
intracellular vesicle (GO:0097708) 2.862ELANE, HAX1
nucleus (GO:0005634) 1.072GFI1, HAX1
bounding membrane of organelle (GO:0098588) 2.392VPS45, HAX1
extracellular exosome (GO:0070062) 1.892ELANE, WAS

NET-GE enrichment

Term New enriched termICP valueGenes
membrane region (GO:0098589) NEW3.950.04G6PC3, JAGN1, HAX1, ELANE, VPS45, WAS
organelle membrane (GO:0031090) -1.970.049JAGN1, VPS45, WAS, HAX1, G6PC3
transcriptional repressor complex (GO:0017053) -5.370.017ELANE, GFI1