Neutrophilia, Hereditary disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Neutrophilia, Hereditary

MalaCards integrated aliases for Neutrophilia, Hereditary:

Name: Neutrophilia, Hereditary ⁵⁷ ¹³ ⁴⁴ ⁴⁰ ⁷³

Hereditary Neutrophilia ¹² ⁵⁹ ⁷⁵ ²⁹ ⁶ ¹⁵

Neutrophilia ⁷⁵ ⁷³

Leukocytosis ⁴⁴ ⁷³

Characteristics:

Orphanet epidemiological data:

⁵⁹

hereditary neutrophilia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
most patients clinically asymptomatic
myelodysplastic syndrome developed in 1 of 12 mutation-positive patients

HPO:

³²

neutrophilia, hereditary:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Other diseases of blood and blood-forming organs

Other disorders of white blood cells

Other specified disorders of white blood cells

Orphanet: ⁵⁹

Rare immunological diseases

External Ids:

OMIM ⁵⁷ 162830

Disease Ontology ¹² DOID:0090120

MeSH ⁴⁴ C563010 D007964

Orphanet ⁵⁹ ORPHA279943

UMLS via Orphanet ⁷⁴ C0543669

ICD10 via Orphanet ³⁴ D72.8

MedGen ⁴² C0543669

SNOMED-CT via HPO ⁶⁹ 263681008 36760000 109995007 more

UMLS ⁷³ C0543669 C3665444 C0023518

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Summaries for Neutrophilia, Hereditary

Disease Ontology : ¹² A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has material basis in heterozygous mutation in the CSF3R gene on chromosome 1p34.

MalaCards based summary : Neutrophilia, Hereditary, also known as hereditary neutrophilia, is related to atypical chronic myeloid leukemia and paraneoplastic syndromes, and has symptoms including muscle weakness and polydipsia. An important gene associated with Neutrophilia, Hereditary is CSF3R (Colony Stimulating Factor 3 Receptor), and among its related pathways/superpathways are Akt Signaling and Cytokine Signaling in Immune system. Affiliated tissues include neutrophil, lung and brain, and related phenotypes are thickened calvaria and myelodysplasia

UniProtKB/Swiss-Prot : ⁷⁵ Hereditary neutrophilia: A form of lifelong, persistent neutrophilia, a condition characterized by an increase in the number of neutrophils in the blood.

Description from OMIM: 162830

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Related Diseases for Neutrophilia, Hereditary

Diseases related to Neutrophilia, Hereditary via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 286)

#	Related Disease	Score	Top Affiliating Genes
1	atypical chronic myeloid leukemia	31.7	CSF3R JAK2
2	paraneoplastic syndromes	30.1	PTHLH IL6
3	myelofibrosis	30.0	FLT3 JAK2 MIR223
4	acute promyelocytic leukemia	30.0	CSF3R FLT3 MIR223
5	splenomegaly	29.8	BPGM JAK2
6	appendicitis	29.7	CRP IL6
7	myeloid leukemia	29.7	JAK2 FLT3 CSF3R CSF2
8	thrombocytosis	29.6	JAK2 IL6 CSF2 CRP
9	leptospirosis	29.6	CRP IL6
10	relapsing polychondritis	29.6	CRP IL6
11	pericardial effusion	29.5	CRP IL6
12	leukemia	29.5	JAK2 FLT3 CSF3R CSF2
13	preterm premature rupture of the membranes	29.5	CRP IL6
14	leukemia, chronic myeloid	29.4	MIR223 JAK2 FLT3 CSF3R CSF2
15	bacterial infectious disease	29.4	IL6 CSF2 CRP
16	ileitis	29.3	CSF2 IL6
17	renal cell carcinoma, nonpapillary	29.3	CSF2 FLT3 PTHLH
18	leukemia, acute myeloid	29.1	MIR223 JAK2 FLT3 CSF3R CSF2
19	myeloma, multiple	29.1	JAK2 IL6 CSF2 CRP
20	chronic myelomonocytic leukemia	29.1	JAK2 FLT3 CSF3R CSF2
21	myelodysplastic syndrome	29.1	JAK2 FLT3 CSF3R CSF2
22	chronic neutrophilic leukemia	11.4
23	ivic syndrome	11.1
24	histiocytosis-lymphadenopathy plus syndrome	11.1
25	leukocyte adhesion deficiency, type iii	11.1
26	neutrophil immunodeficiency syndrome	11.1
27	autoinflammation, panniculitis, and dermatosis syndrome	11.1
28	myeloproliferative syndrome, transient	10.9
29	persistent polyclonal b-cell lymphocytosis	10.9
30	psoriasis 14, pustular	10.9
31	psoriasis 15, pustular	10.9
32	pulmonary alveolar proteinosis with hypogammaglobulinemia	10.9
33	lemierre's syndrome	10.9
34	acute chest syndrome	10.9
35	acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)	10.9
36	bronchiolitis	10.2
37	pneumonia	10.2
38	lymphopenia	10.2
39	essential thrombocythemia	10.2
40	bronchiolitis obliterans	10.2
41	squamous cell carcinoma	10.2
42	chronic leukemia	10.2	CSF3R JAK2
43	subacute myeloid leukemia	10.2	JAK2 FLT3
44	lymphoid leukemia	10.2	FLT3 JAK2
45	asthma	10.2
46	core binding factor acute myeloid leukemia	10.1	FLT3 JAK2
47	fatal familial insomnia	10.1	CSF3R IL6
48	cold agglutinin disease	10.1	IL6 CRP
49	cryopyrin-associated periodic syndrome	10.1	IL6 CRP
50	acute cholangitis	10.1	CRP IL6

Graphical network of the top 20 diseases related to Neutrophilia, Hereditary:

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Symptoms & Phenotypes for Neutrophilia, Hereditary

Symptoms via clinical synopsis from OMIM:

⁵⁷

Hematology:
neutrophilia
segmented neutrophils or band cells greater than 70%

Clinical features from OMIM:

162830

Human phenotypes related to Neutrophilia, Hereditary:

³²

#	Description	HPO Source Accession
1	thickened calvaria ³²	HP:0002684
2	myelodysplasia ³²	HP:0002863
3	hepatosplenomegaly ³²	HP:0001433
4	neutrophilia ³²	HP:0011897
5	elevated leukocyte alkaline phosphatase ³²	HP:0008318

UMLS symptoms related to Neutrophilia, Hereditary:

muscle weakness, polydipsia

GenomeRNAi Phenotypes related to Neutrophilia, Hereditary according to GeneCards Suite gene sharing:

²⁶ (show all 22)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-102	9.7	FLT3
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-105	9.7	BPGM
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-107	9.7	CSF3R
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-115	9.7	FLT3
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-120	9.7	FLT3
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-121	9.7	FLT3
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-122	9.7	FLT3
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-123	9.7	BPGM CSF3R FLT3
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-136	9.7	CSF3R
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-146	9.7	CSF3R
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-152	9.7	BPGM
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-163	9.7	FLT3
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-164	9.7	CSF3R
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-168	9.7	CSF3R
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-197	9.7	CSF3R
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-25	9.7	FLT3
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-31	9.7	BPGM
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-63	9.7	BPGM
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-67	9.7	BPGM
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-7	9.7	CSF3R
21	Increased shRNA abundance (Z-score > 2)	GR00366-A-70	9.7	FLT3
22	Increased shRNA abundance (Z-score > 2)	GR00366-A-82	9.7	BPGM

MGI Mouse Phenotypes related to Neutrophilia, Hereditary:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	endocrine/exocrine gland	MP:0005379	9.63	CSF2 CSF3R FLT3 IL6 JAK2 PTHLH
2	immune system	MP:0005387	9.5	CRP CSF2 CSF3R FLT3 IL6 JAK2
3	neoplasm	MP:0002006	9.02	CSF2 FLT3 IL6 JAK2 PTHLH

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Drugs & Therapeutics for Neutrophilia, Hereditary

Search Clinical Trials , NIH Clinical Center for Neutrophilia, Hereditary

Inferred drug relations via UMLS ⁷³ / NDF-RT ⁵¹ :

hydroxyurea

Cochrane evidence based reviews: leukocytosis

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Genetic Tests for Neutrophilia, Hereditary

Genetic tests related to Neutrophilia, Hereditary:

#	Genetic test	Affiliating Genes
1	Hereditary Neutrophilia ²⁹

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Anatomical Context for Neutrophilia, Hereditary

MalaCards organs/tissues related to Neutrophilia, Hereditary:

⁴¹

Neutrophil, Lung, Brain, Bone, Thyroid, B Cells, Myeloid

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Publications for Neutrophilia, Hereditary

Articles related to Neutrophilia, Hereditary:

#	Title	Authors	Year
1	Hereditary neutrophilia. ( 4825608 )	Herring WB...Herion JC	1974

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Genes for Neutrophilia, Hereditary

Genes related to Neutrophilia, Hereditary (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CSF3R	Colony Stimulating Factor 3 Receptor	Protein Coding	1066.27	Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ DISEASES inferred ¹⁵	12203110 19620628
2	MIR223	MicroRNA 223	RNA Gene	350	Causal ⁴⁷	18278031
3	JAK2	Janus Kinase 2	Protein Coding	20.05	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	17249502 18094555 17110452
4	CRP	C-Reactive Protein	Protein Coding	19.01	Novoseek inferred ⁵⁵	19377227 10909488 15035085 (more) 18507099 10876758 9311048 12711291 8639195 8351442 7477720 10600313 10921288 17589925 18354354 10863331 12061218 7690726 19841948 19687601 19262050 19261100 17888212 18156720 15909883 15472480 9239802 7474592 7916222 8351441 19579736 17409596 15227732 11974947 11186911 10783659 14518202 9651603 9431000 1405101 1659935 20386477 19618128 18053517 10952407 10416955 10659417 8808300 8008917 1712592 20170016 19362015 17496863 19856878 19576941 18408388 16910472 14688403 10897676 10432943 10089706 8720268 1767347 1755428 19857759 15034607 16377869 12649797 11979429 11985972 17329916 16696775 16286856 15500154 15307561 12873544 12827405 10979290 17273861 15543470 14727549 12380905 11484399 10565228 9765629 9311018 10407980 2074373 19764522 15379285 14648435 12621815 8869786 7525083 11260876 19755969 9141266 9244660 9388356 9599897
5	FLT3	Fms Related Tyrosine Kinase 3	Protein Coding	17.83	Novoseek inferred ⁵⁵	15059064 11971190 18780575 (more) 10216104 11290608 15167911 12515727 9305596 12842996 12145695
6	BPGM	Bisphosphoglycerate Mutase	Protein Coding	17.08	DISEASES inferred ¹⁵
7	IL6	Interleukin 6	Protein Coding	17	Novoseek inferred ⁵⁵	18277029 15309018 19967491 (more) 9322101 9716876 11087252 12061218 12633573 2019273 9822461 10444630 11149437 16098308 19303962 10919754 12353422 18172961 1895748 19576941 11432624 8797110 7642268 10454346 2212010 2341859 12630342 1924429 20386477 10602303 17617470
8	CSF2	Colony Stimulating Factor 2	Protein Coding	16.69	Novoseek inferred ⁵⁵	1421718 1540871 1707685 (more) 1723718 9793030 18241214 11467601
9	PTHLH	Parathyroid Hormone Like Hormone	Protein Coding	16.63	Novoseek inferred ⁵⁵	8641981 7535368 11506305 (more) 18277029 8609700 16850133 11019567

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Variations for Neutrophilia, Hereditary

UniProtKB/Swiss-Prot genetic disease variations for Neutrophilia, Hereditary:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	CSF3R	p.Thr640Asn	VAR_063065	rs121918426

ClinVar genetic disease variations for Neutrophilia, Hereditary:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	CSF3R	NM_156039.3(CSF3R): c.1919C> A (p.Thr640Asn)	single nucleotide variant	Pathogenic	rs121918426	GRCh37	Chromosome 1, 36933198: 36933198
2	CSF3R	NM_156039.3(CSF3R): c.1919C> A (p.Thr640Asn)	single nucleotide variant	Pathogenic	rs121918426	GRCh38	Chromosome 1, 36467597: 36467597

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Expression for Neutrophilia, Hereditary

Search GEO for disease gene expression data for Neutrophilia, Hereditary.

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Pathways for Neutrophilia, Hereditary

Pathways related to Neutrophilia, Hereditary according to GeneCards Suite gene sharing:

(show all 20)

#	Super pathways	Score	Top Affiliating Genes
1	Akt Signaling ⁶⁴ Show member pathways p38 Signaling ⁶⁴ Tec Kinases Signaling ⁶⁴	13.09	CSF2 CSF3R FLT3 IL6 JAK2
2	Cytokine Signaling in Immune system ⁶⁶ Show member pathways Signaling by Interleukins ⁶⁶	13	CSF2 CSF3R FLT3 IL6 JAK2
3	PI3K-Akt signaling pathway ³⁷ Show member pathways Human papillomavirus infection ³⁷	12.7	CSF3R FLT3 IL6 JAK2
4	Pathways in cancer ³⁷	12.48	CSF3R FLT3 IL6 JAK2
5	IL-17 Family Signaling Pathways ⁶⁵ Show member pathways IL17 signaling pathway ¹ IL-17 signaling pathway ³⁷ Interleukin-17 signaling ⁶⁶ Mucin expression in CF via IL-6, IL-17 signaling pathways ²²	12.03	CSF2 IL6 JAK2
6	Transcriptional misregulation in cancer ³⁷	11.92	CSF2 FLT3 IL6
7	JAK-STAT signaling pathway (KEGG) ³⁷ Show member pathways Interleukin-19, 20, 22, 24 ⁶⁶ Jak/STAT Signaling Pathway ⁶⁵	11.92	CSF2 CSF3R IL6 JAK2
8	Jak-Stat Signaling Pathway (sino) ⁶⁷	11.52	CSF3R IL6 JAK2
9	Cytokine production by Th17 cells in CF (Mouse model) ²² Show member pathways Cytokine production by Th17 cells in CF ²²	11.51	CSF2 IL6 JAK2
10	IL6-mediated signaling events ¹ Show member pathways IL-6 signaling pathway ¹	11.43	CRP IL6 JAK2
11	Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers ⁶⁵	11.32	CSF2 CSF3R FLT3 IL6
12	Interleukin-10 signaling ⁶⁶	11.28	CSF2 IL6
13	Hematopoietic Stem Cell Differentiation ¹	11.27	CSF2 IL6
14	Thymic Stromal LymphoPoietin (TSLP) Signaling Pathway ¹	11.25	IL6 JAK2
15	Dendritic Cells Developmental Lineage Pathway ⁶⁵	11.2	CSF2 FLT3 IL6
16	RAF-independent MAPK1/3 activation ⁶⁶ Show member pathways MAPK1 (ERK2) activation ⁶⁶ MAPK3 (ERK1) activation ⁶⁶	11.19	IL6 JAK2
17	Development_Leptin signaling via JAK/STAT and MAPK cascades ²² Show member pathways phospho-PLA2 pathway ⁶⁶	11.01	CRP JAK2
18	Cytokines and Inflammatory Response ¹	10.97	CSF2 IL6
19	Hematopoietic cell lineage ³⁷	10.91	CSF2 CSF3R FLT3 IL6
20	Overview of nanoparticle effects ¹	10.71	CRP IL6

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GO Terms for Neutrophilia, Hereditary

Biological processes related to Neutrophilia, Hereditary according to GeneCards Suite gene sharing:

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of gene expression	GO:0010628	9.71	CRP CSF2 IL6 MIR223
2	MAPK cascade	GO:0000165	9.65	CSF2 FLT3 JAK2
3	peptidyl-tyrosine phosphorylation	GO:0018108	9.63	CSF2 FLT3 JAK2
4	positive regulation of cell proliferation	GO:0008284	9.55	CSF2 FLT3 IL6 JAK2 PTHLH
5	acute-phase response	GO:0006953	9.49	CRP IL6
6	interleukin-6-mediated signaling pathway	GO:0070102	9.43	IL6 JAK2
7	dendritic cell differentiation	GO:0097028	9.37	CSF2 FLT3
8	cytokine-mediated signaling pathway	GO:0019221	9.35	CSF2 CSF3R FLT3 IL6 JAK2
9	regulation of myeloid cell differentiation	GO:0045637	9.32	CSF2 CSF3R
10	negative regulation of lipid storage	GO:0010888	9.26	CRP IL6
11	positive regulation of tyrosine phosphorylation of STAT protein	GO:0042531	8.92	CSF2 FLT3 IL6 JAK2

Molecular functions related to Neutrophilia, Hereditary according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein tyrosine kinase activity	GO:0004713	9.33	CSF2 FLT3 JAK2
2	cytokine receptor activity	GO:0004896	9.26	CSF3R FLT3
3	Ras guanyl-nucleotide exchange factor activity	GO:0005088	9.13	CSF2 FLT3 JAK2
4	peptide hormone receptor binding	GO:0051428	8.62	JAK2 PTHLH

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Sources for Neutrophilia, Hereditary

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

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¹⁶ DrugBank

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¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Neutrophilia, Hereditary (NEUTROPHILIA)

Aliases & Classifications for Neutrophilia, Hereditary

MalaCards integrated aliases for Neutrophilia, Hereditary:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Neutrophilia, Hereditary

Related Diseases for Neutrophilia, Hereditary

Diseases related to Neutrophilia, Hereditary via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Neutrophilia, Hereditary:

Symptoms & Phenotypes for Neutrophilia, Hereditary

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Neutrophilia, Hereditary:

UMLS symptoms related to Neutrophilia, Hereditary:

GenomeRNAi Phenotypes related to Neutrophilia, Hereditary according to GeneCards Suite gene sharing:

MGI Mouse Phenotypes related to Neutrophilia, Hereditary:

Drugs & Therapeutics for Neutrophilia, Hereditary

Inferred drug relations via UMLS 73 / NDF-RT 51 :

Cochrane evidence based reviews: leukocytosis

Genetic Tests for Neutrophilia, Hereditary

Genetic tests related to Neutrophilia, Hereditary:

Anatomical Context for Neutrophilia, Hereditary

MalaCards organs/tissues related to Neutrophilia, Hereditary:

Publications for Neutrophilia, Hereditary

Articles related to Neutrophilia, Hereditary:

Genes for Neutrophilia, Hereditary

Genes related to Neutrophilia, Hereditary (2 elite genes):

Variations for Neutrophilia, Hereditary

UniProtKB/Swiss-Prot genetic disease variations for Neutrophilia, Hereditary:

ClinVar genetic disease variations for Neutrophilia, Hereditary:

Expression for Neutrophilia, Hereditary

Pathways for Neutrophilia, Hereditary

Pathways related to Neutrophilia, Hereditary according to GeneCards Suite gene sharing:

GO Terms for Neutrophilia, Hereditary

Biological processes related to Neutrophilia, Hereditary according to GeneCards Suite gene sharing:

Molecular functions related to Neutrophilia, Hereditary according to GeneCards Suite gene sharing:

Sources for Neutrophilia, Hereditary

Inferred drug relations via UMLS ⁷³ / NDF-RT ⁵¹ :