Neutropenia, Severe Congenital, 2, Autosomal Dominant disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Neutropenia, Severe Congenital, 2, Autosomal Dominant

MalaCards integrated aliases for Neutropenia, Severe Congenital, 2, Autosomal Dominant:

Name: Neutropenia, Severe Congenital, 2, Autosomal Dominant ⁵⁷ ²⁸ ⁵

Neutropenia, Severe Congenital 2, Autosomal Dominant ⁵⁷ ⁷³

Neutropenia, Severe Congenital, Autosomal Dominant 2 ¹² ⁷¹

Scn2 ⁵⁷ ⁷³

Neutropenia, Congenital, Severe, Type 2, Autosomal Dominant ³⁸

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
variable phenotype
some patients may have cyclic neutropenia
one family and 1 unrelated patient with sporadic disease have been reported (last curated february 2020)

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases Infectious diseases
Anatomical: Blood diseases Neuronal diseases Respiratory diseases Bone diseases Immune diseases Endocrine diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 613107

OMIM Phenotypic Series ⁵⁷ PS202700

MeSH ⁴³ D009503

MedGen ⁴⁰ C2751288

SNOMED-CT via HPO ⁶⁹ 165517008 19636003

UMLS ⁷¹ C2751288

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Summaries for Neutropenia, Severe Congenital, 2, Autosomal Dominant

UniProtKB/Swiss-Prot: ⁷³ A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections.

MalaCards based summary: Neutropenia, Severe Congenital, 2, Autosomal Dominant, also known as neutropenia, severe congenital 2, autosomal dominant, is related to severe congenital neutropenia 2. An important gene associated with Neutropenia, Severe Congenital, 2, Autosomal Dominant is GFI1 (Growth Factor Independent 1 Transcriptional Repressor). Affiliated tissues include neutrophil, t cells and monocytes, and related phenotypes are neutropenia and b lymphocytopenia

More information from OMIM: 613107 PS202700

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Related Diseases for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Diseases in the Neutropenia family:

Neutropenia, Chronic Familial	Neutropenia, Severe Congenital, 1, Autosomal Dominant
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia, Severe Congenital, 9, Autosomal Dominant
Severe Congenital Neutropenia	Severe Congenital Neutropenia 1
Severe Congenital Neutropenia 7	Autosomal Dominant Severe Congenital Neutropenia
Severe Congenital Neutropenia 2	Severe Congenital Neutropenia 5
Severe Congenital Neutropenia 3	Severe Congenital Neutropenia 6
Severe Congenital Neutropenia 8	Severe Congenital Neutropenia 4
Elane-Related Neutropenia	Acquired Neutropenia
Autosomal Recessive Severe Congenital Neutropenia

Diseases related to Neutropenia, Severe Congenital, 2, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	severe congenital neutropenia 2	11.0

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Symptoms & Phenotypes for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Human phenotypes related to Neutropenia, Severe Congenital, 2, Autosomal Dominant:

³⁰

#	Description	HPO Source Accession
1	neutropenia ³⁰	HP:0001875
2	b lymphocytopenia ³⁰	HP:0010976
3	monocytosis ³⁰	HP:0012311

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Immunology:
elevated monocytes
low neutrophil number
immature neutrophils
immature monocytes
reduced absolute cell number of cd4 t lymphocytes (in some patients)
more

Clinical features from OMIM®:

613107 (Updated 08-Dec-2022)

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Drugs & Therapeutics for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Search Clinical Trials, NIH Clinical Center for Neutropenia, Severe Congenital, 2, Autosomal Dominant

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Genetic Tests for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Genetic tests related to Neutropenia, Severe Congenital, 2, Autosomal Dominant:

#	Genetic test	Affiliating Genes
1	Neutropenia, Severe Congenital, 2, Autosomal Dominant ²⁸	GFI1

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Anatomical Context for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Organs/tissues related to Neutropenia, Severe Congenital, 2, Autosomal Dominant:

MalaCards : Neutrophil, T Cells, Monocytes, Bone Marrow, Bone, Brain

ODiseA: Blood And Bone Marrow

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Publications for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Articles related to Neutropenia, Severe Congenital, 2, Autosomal Dominant:

(show all 15)

#	Title	Authors	PMID	Year
1	Cyclic neutropenia associated with T cell immunity to granulocyte proteases and a double de novo mutation in GFI1, a transcriptional regulator of ELANE. ⁵⁷ ⁵	Armistead PM...Molldrem J	20560965	2010
2	Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2. ⁵⁷ ⁵	Person RE...Horwitz M	12778173	2003
3	Inflammatory reactions and severe neutropenia in mice lacking the transcriptional repressor Gfi1. ⁵⁷	Karsunky H...Moroy T	11810106	2002
4	Chromosomal localization of a gene, GF1, encoding a novel zinc finger protein reveals a new syntenic region between man and rodents. ⁵⁷	Bell DW...Testa JR	7789186	1995
5	Differential excitatory vs inhibitory SCN expression at single cell level regulates brain sodium channel function in neurodevelopmental disorders. ⁶²	Du J...Lal D	31928904	2020
6	Reliability of breeding values for feed intake and feed efficiency traits in dairy cattle: When dry matter intake recordings are sparse under different scenarios. ⁶²	Negussie E...Lidauer MH	31155258	2019
7	Interaction of the early 3d transition metals Sc, Ti, V, and Cr with N2: an ab initio study. ⁶²	Kardahakis S...Mavridis A	16542078	2006
8	Suppression by an h current of spontaneous Na+ action potentials in human cone and rod photoreceptors. ⁶²	Kawai F...Miyachi E	15623800	2005
9	Structure-activity relationships in platinum-acridinylthiourea conjugates: effect of the thiourea nonleaving group on drug stability, nucleobase affinity, and in vitro cytotoxicity. ⁶²	Ackley MC...Bierbach U	15067524	2004
10	Suppression of a mitotic mutant by tRNA-Ala anticodon mutations that produce a dominant defect in late mitosis. ⁶²	Kimata Y...Yanagida M	15126629	2004
11	Li3[ScN2]: the first nitridoscandate(III)-tetrahedral Sc coordination and unusual MX2 framework. ⁶²	Niewa R...Leoni S	12953211	2003
12	Vesicle-associated membrane protein of Arabidopsis suppresses Bax-induced apoptosis in yeast downstream of oxidative burst. ⁶²	Levine A...Granot D	11551960	2001
13	Bypassing anaphase by fission yeast cut9 mutation: requirement of cut9+ to initiate anaphase. ⁶²	Samejima I...Yanagida M	7798319	1994
14	Use of recombinant inbred strains for studying genetic determinants of responses to alcohol. ⁶²	Crabbe JC...Metten P	8974318	1994
15	Cytoprotective effect of NMDA receptor antagonists on prion protein (PrionSc)-induced toxicity in rat cortical cell cultures. ⁶²	Muller WE...Heffner-Lauc M	7901042	1993

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Genes for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Genes related to Neutropenia, Severe Congenital, 2, Autosomal Dominant (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	GFI1	Growth Factor Independent 1 Transcriptional Repressor	Protein Coding	1307.93	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ GeneCards inferred via : Disorders (show sections)	12778173 20560965

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Variations for Neutropenia, Severe Congenital, 2, Autosomal Dominant

ClinVar genetic disease variations for Neutropenia, Severe Congenital, 2, Autosomal Dominant:

⁵ (show top 50) (show all 162)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	GFI1	NM_005263.5(GFI1):c.1145A>G (p.Asn382Ser)	SNV	Pathogenic	8739	rs28936381	GRCh37: 1:92941710-92941710 GRCh38: 1:92476153-92476153
2	GFI1	NM_005263.5(GFI1):c.1250C>T (p.Thr417Met)	SNV	Conflicting Interpretations Of Pathogenicity	801501	rs777241871	GRCh37: 1:92941605-92941605 GRCh38: 1:92476048-92476048
3	GFI1	NM_005263.5(GFI1):c.191C>A (p.Ala64Asp)	SNV	Uncertain Significance	834993	rs1658344685	GRCh37: 1:92948528-92948528 GRCh38: 1:92482971-92482971
4	GFI1	NM_005263.5(GFI1):c.49C>G (p.Gln17Glu)	SNV	Uncertain Significance	1040579	rs750251158	GRCh37: 1:92948996-92948996 GRCh38: 1:92483439-92483439
5	GFI1	NM_005263.5(GFI1):c.736A>G (p.Thr246Ala)	SNV	Uncertain Significance	1042613	rs764922701	GRCh37: 1:92946208-92946208 GRCh38: 1:92480651-92480651
6	GFI1	NM_005263.5(GFI1):c.494C>A (p.Ala165Asp)	SNV	Uncertain Significance	949284	rs773178468	GRCh37: 1:92946450-92946450 GRCh38: 1:92480893-92480893
7	GFI1	NM_005263.5(GFI1):c.52C>T (p.Pro18Ser)	SNV	Uncertain Significance	1030898	rs1658381767	GRCh37: 1:92948993-92948993 GRCh38: 1:92483436-92483436
8	GFI1	NC_000001.10:g.(?_92941566)_(92949064_?)del	DEL	Uncertain Significance	1042060		GRCh37: 1:92941566-92949064 GRCh38:
9	GFI1	NM_005263.5(GFI1):c.757G>A (p.Gly253Ser)	SNV	Uncertain Significance	1461345		GRCh37: 1:92946187-92946187 GRCh38: 1:92480630-92480630
10	GFI1	NM_005263.5(GFI1):c.208G>T (p.Ala70Ser)	SNV	Uncertain Significance	1487323		GRCh37: 1:92948511-92948511 GRCh38: 1:92482954-92482954
11	GFI1	NM_005263.5(GFI1):c.713A>G (p.Lys238Arg)	SNV	Uncertain Significance	1508738		GRCh37: 1:92946231-92946231 GRCh38: 1:92480674-92480674
12	GFI1	NM_005263.5(GFI1):c.233G>C (p.Ser78Thr)	SNV	Uncertain Significance	1517491		GRCh37: 1:92948486-92948486 GRCh38: 1:92482929-92482929
13	GFI1	NM_005263.5(GFI1):c.868G>C (p.Gly290Arg)	SNV	Uncertain Significance	1497955		GRCh37: 1:92945961-92945961 GRCh38: 1:92480404-92480404
14	GFI1	NM_005263.5(GFI1):c.532G>A (p.Gly178Arg)	SNV	Uncertain Significance	1348482		GRCh37: 1:92946412-92946412 GRCh38: 1:92480855-92480855
15	GFI1	NM_005263.5(GFI1):c.541G>A (p.Ala181Thr)	SNV	Uncertain Significance	1163738		GRCh37: 1:92946403-92946403 GRCh38: 1:92480846-92480846
16	GFI1	NM_005263.5(GFI1):c.461dup (p.Cys155fs)	DUP	Uncertain Significance	1045987	rs1658216855	GRCh37: 1:92946482-92946483 GRCh38: 1:92480925-92480926
17	GFI1	NM_005263.5(GFI1):c.938A>G (p.Asp313Gly)	SNV	Uncertain Significance	566000	rs376042061	GRCh37: 1:92944297-92944297 GRCh38: 1:92478740-92478740
18	GFI1	NM_005263.5(GFI1):c.682G>C (p.Gly228Arg)	SNV	Uncertain Significance	643828	rs779127899	GRCh37: 1:92946262-92946262 GRCh38: 1:92480705-92480705
19	GFI1	NM_005263.5(GFI1):c.796A>G (p.Thr266Ala)	SNV	Uncertain Significance	947502	rs1658175649	GRCh37: 1:92946033-92946033 GRCh38: 1:92480476-92480476
20	GFI1	NM_005263.5(GFI1):c.477G>A (p.Pro159=)	SNV	Uncertain Significance	581490	rs1249429892	GRCh37: 1:92946467-92946467 GRCh38: 1:92480910-92480910
21	GFI1	NM_005263.5(GFI1):c.603C>T (p.Gly201=)	SNV	Uncertain Significance	643429	rs1230474672	GRCh37: 1:92946341-92946341 GRCh38: 1:92480784-92480784
22	GFI1	NM_005263.5(GFI1):c.440G>T (p.Arg147Leu)	SNV	Uncertain Significance	644864	rs1367385969	GRCh37: 1:92946504-92946504 GRCh38: 1:92480947-92480947
23	GFI1	NM_005263.5(GFI1):c.854C>T (p.Ala285Val)	SNV	Uncertain Significance	644949	rs767464450	GRCh37: 1:92945975-92945975 GRCh38: 1:92480418-92480418
24	GFI1	NM_005263.5(GFI1):c.431C>G (p.Ala144Gly)	SNV	Uncertain Significance	435318	rs533176227	GRCh37: 1:92946513-92946513 GRCh38: 1:92480956-92480956
25	GFI1	NM_005263.5(GFI1):c.577G>T (p.Ala193Ser)	SNV	Uncertain Significance	1030899	rs765205557	GRCh37: 1:92946367-92946367 GRCh38: 1:92480810-92480810
26	GFI1	NM_005263.5(GFI1):c.210_221del (p.Ser71_Ser74del)	DEL	Uncertain Significance	1362512		GRCh37: 1:92948498-92948509 GRCh38: 1:92482941-92482952
27	GFI1	NM_005263.5(GFI1):c.617C>T (p.Ala206Val)	SNV	Uncertain Significance	1419937		GRCh37: 1:92946327-92946327 GRCh38: 1:92480770-92480770
28	GFI1	NM_005263.5(GFI1):c.528C>T (p.Gly176=)	SNV	Uncertain Significance	1413742		GRCh37: 1:92946416-92946416 GRCh38: 1:92480859-92480859
29	GFI1	NM_005263.5(GFI1):c.109C>G (p.Arg37Gly)	SNV	Uncertain Significance	1405692		GRCh37: 1:92948936-92948936 GRCh38: 1:92483379-92483379
30	GFI1	NM_005263.5(GFI1):c.1172C>T (p.Thr391Ile)	SNV	Uncertain Significance	1417552		GRCh37: 1:92941683-92941683 GRCh38: 1:92476126-92476126
31	GFI1	NM_005263.5(GFI1):c.837C>G (p.Ser279Arg)	SNV	Uncertain Significance	1365380		GRCh37: 1:92945992-92945992 GRCh38: 1:92480435-92480435
32	GFI1	NM_005263.5(GFI1):c.46C>T (p.His16Tyr)	SNV	Uncertain Significance	1422577		GRCh37: 1:92948999-92948999 GRCh38: 1:92483442-92483442
33	GFI1	NM_005263.5(GFI1):c.714G>T (p.Lys238Asn)	SNV	Uncertain Significance	1430464		GRCh37: 1:92946230-92946230 GRCh38: 1:92480673-92480673
34	GFI1	NM_005263.5(GFI1):c.484G>A (p.Gly162Ser)	SNV	Uncertain Significance	1462641		GRCh37: 1:92946460-92946460 GRCh38: 1:92480903-92480903
35	GFI1	NM_005263.5(GFI1):c.219C>G (p.Asp73Glu)	SNV	Uncertain Significance	1463313		GRCh37: 1:92948500-92948500 GRCh38: 1:92482943-92482943
36	GFI1	NM_005263.5(GFI1):c.347C>G (p.Pro116Arg)	SNV	Uncertain Significance	1463641		GRCh37: 1:92946597-92946597 GRCh38: 1:92481040-92481040
37	GFI1	NM_005263.5(GFI1):c.322T>C (p.Ser108Pro)	SNV	Uncertain Significance	1465189		GRCh37: 1:92946622-92946622 GRCh38: 1:92481065-92481065
38	GFI1	NM_005263.5(GFI1):c.835A>G (p.Ser279Gly)	SNV	Uncertain Significance	1473861		GRCh37: 1:92945994-92945994 GRCh38: 1:92480437-92480437
39	GFI1	NM_005263.5(GFI1):c.943A>G (p.Lys315Glu)	SNV	Uncertain Significance	1484041		GRCh37: 1:92944292-92944292 GRCh38: 1:92478735-92478735
40	GFI1	NM_005263.5(GFI1):c.1082T>C (p.Ile361Thr)	SNV	Uncertain Significance	1495351		GRCh37: 1:92944153-92944153 GRCh38: 1:92478596-92478596
41	GFI1	NM_005263.5(GFI1):c.533G>C (p.Gly178Ala)	SNV	Uncertain Significance	1501248		GRCh37: 1:92946411-92946411 GRCh38: 1:92480854-92480854
42	GFI1	NM_005263.5(GFI1):c.181C>G (p.Leu61Val)	SNV	Uncertain Significance	1515128		GRCh37: 1:92948538-92948538 GRCh38: 1:92482981-92482981
43	GFI1	NM_005263.5(GFI1):c.187G>A (p.Glu63Lys)	SNV	Uncertain Significance	1516040		GRCh37: 1:92948532-92948532 GRCh38: 1:92482975-92482975
44	GFI1	NM_005263.5(GFI1):c.201_221dup (p.Arg67_Asp73dup)	DUP	Uncertain Significance	1350265		GRCh37: 1:92948497-92948498 GRCh38: 1:92482940-92482941
45	GFI1	NM_005263.5(GFI1):c.534G>T (p.Gly178=)	SNV	Uncertain Significance	840261	rs1658207859	GRCh37: 1:92946410-92946410 GRCh38: 1:92480853-92480853
46	GFI1	NM_005263.5(GFI1):c.571G>A (p.Ala191Thr)	SNV	Uncertain Significance	840484	rs1426616222	GRCh37: 1:92946373-92946373 GRCh38: 1:92480816-92480816
47	GFI1	NM_005263.5(GFI1):c.74A>G (p.Tyr25Cys)	SNV	Uncertain Significance	864714	rs375422035	GRCh37: 1:92948971-92948971 GRCh38: 1:92483414-92483414
48	GFI1	NM_005263.5(GFI1):c.569G>C (p.Gly190Ala)	SNV	Uncertain Significance	943387	rs528437159	GRCh37: 1:92946375-92946375 GRCh38: 1:92480818-92480818
49	GFI1	NM_005263.5(GFI1):c.1076C>T (p.Thr359Ile)	SNV	Uncertain Significance	946598	rs1234266152	GRCh37: 1:92944159-92944159 GRCh38: 1:92478602-92478602
50	GFI1	NM_005263.5(GFI1):c.797C>T (p.Thr266Met)	SNV	Uncertain Significance	949003	rs1658175470	GRCh37: 1:92946032-92946032 GRCh38: 1:92480475-92480475

UniProtKB/Swiss-Prot genetic disease variations for Neutropenia, Severe Congenital, 2, Autosomal Dominant:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	GFI1	p.Asn382Ser	VAR_016212	rs28936381

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Expression for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Search GEO for disease gene expression data for Neutropenia, Severe Congenital, 2, Autosomal Dominant.

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Pathways for Neutropenia, Severe Congenital, 2, Autosomal Dominant

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GO Terms for Neutropenia, Severe Congenital, 2, Autosomal Dominant

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Sources for Neutropenia, Severe Congenital, 2, Autosomal Dominant

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

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¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

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⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

SCN2 MCID: NTR051 MIFTS: 29	Neutropenia, Severe Congenital, 2, Autosomal Dominant (SCN2) Categories: Blood diseases, Bone diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Immune diseases, Infectious diseases, Neuronal diseases, Rare diseases, Respiratory diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Neutropenia, Severe Congenital, 2, Autosomal Dominant (SCN2)

Aliases & Classifications for Neutropenia, Severe Congenital, 2, Autosomal Dominant

MalaCards integrated aliases for Neutropenia, Severe Congenital, 2, Autosomal Dominant:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Related Diseases for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Diseases in the Neutropenia family:

Diseases related to Neutropenia, Severe Congenital, 2, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Human phenotypes related to Neutropenia, Severe Congenital, 2, Autosomal Dominant:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Genetic Tests for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Genetic tests related to Neutropenia, Severe Congenital, 2, Autosomal Dominant:

Anatomical Context for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Organs/tissues related to Neutropenia, Severe Congenital, 2, Autosomal Dominant:

Publications for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Articles related to Neutropenia, Severe Congenital, 2, Autosomal Dominant:

Genes for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Genes related to Neutropenia, Severe Congenital, 2, Autosomal Dominant (1 elite genes):

Variations for Neutropenia, Severe Congenital, 2, Autosomal Dominant

ClinVar genetic disease variations for Neutropenia, Severe Congenital, 2, Autosomal Dominant:

UniProtKB/Swiss-Prot genetic disease variations for Neutropenia, Severe Congenital, 2, Autosomal Dominant:

Expression for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Pathways for Neutropenia, Severe Congenital, 2, Autosomal Dominant

GO Terms for Neutropenia, Severe Congenital, 2, Autosomal Dominant

Sources for Neutropenia, Severe Congenital, 2, Autosomal Dominant