Neutropenia, Severe Congenital, 5, Autosomal Recessive disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Neutropenia, Severe Congenital, 5, Autosomal Recessive

MalaCards integrated aliases for Neutropenia, Severe Congenital, 5, Autosomal Recessive:

Name: Neutropenia, Severe Congenital, 5, Autosomal Recessive ⁵⁷ ⁷¹

Scn5 ⁵⁷ ⁷³

Neutropenia, Congenital, Severe, Type 5, Autosomal Recessive ³⁸

Neutropenia, Severe Congenital 5, Autosomal Recessive ⁷³

Severe Congenital Neutropenia 5, Autosomal Recessive ⁵

Characteristics:

Inheritance:

Autosomal recessive ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
onset in infancy
early death from infection may occur

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:

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Summaries for Neutropenia, Severe Congenital, 5, Autosomal Recessive

OMIM®: ⁵⁷ Severe congenital neutropenia-5 is an autosomal recessive primary immunodeficiency disorder characterized primarily by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis (summary by Vilboux et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (202700). (615285) (Updated 08-Dec-2022)

MalaCards based summary: Neutropenia, Severe Congenital, 5, Autosomal Recessive, also known as scn5, is related to severe congenital neutropenia 5. An important gene associated with Neutropenia, Severe Congenital, 5, Autosomal Recessive is VPS45 (Vacuolar Protein Sorting 45 Homolog). Affiliated tissues include bone marrow, neutrophil and bone, and related phenotypes are global developmental delay and failure to thrive

UniProtKB/Swiss-Prot: ⁷³ An autosomal recessive primary immunodeficiency disorder characterized primarily by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis.

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Related Diseases for Neutropenia, Severe Congenital, 5, Autosomal Recessive

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, 5, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	severe congenital neutropenia 5	11.0

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Symptoms & Phenotypes for Neutropenia, Severe Congenital, 5, Autosomal Recessive

Human phenotypes related to Neutropenia, Severe Congenital, 5, Autosomal Recessive:

³⁰ (show all 11)

#	Description	HPO Frequency	HPO Source Accession
1	global developmental delay ³⁰	Occasional (7.5%)	HP:0001263
2	failure to thrive ³⁰		HP:0001508
3	splenomegaly ³⁰		HP:0001744
4	hepatomegaly ³⁰		HP:0002240
5	anemia ³⁰		HP:0001903
6	thrombocytopenia ³⁰		HP:0001873
7	neutropenia ³⁰		HP:0001875
8	recurrent infections ³⁰		HP:0002719
9	leukopenia ³⁰		HP:0001882
10	extramedullary hematopoiesis ³⁰		HP:0001978
11	increased circulating antibody level ³⁰		HP:0010702

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Abdomen Spleen:
splenomegaly

Hematology:
anemia
thrombocytopenia
extramedullary hematopoiesis
nucleated red cells in peripheral blood
bone marrow fibrosis
more

Growth Weight:
poor weight gain

Neurologic Central Nervous System:
delayed psychomotor development (in 1 family)

Abdomen Liver:
hepatomegaly

Immunology:
neutropenia
leukopenia
hypergammaglobulinemia
recurrent infections, bacterial and fungal
neutrophil dysfunction

Genitourinary Kidneys:
enlarged kidneys due to extramedullary hematopoiesis

Clinical features from OMIM®:

615285 (Updated 08-Dec-2022)

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Drugs & Therapeutics for Neutropenia, Severe Congenital, 5, Autosomal Recessive

Search Clinical Trials, NIH Clinical Center for Neutropenia, Severe Congenital, 5, Autosomal Recessive

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Genetic Tests for Neutropenia, Severe Congenital, 5, Autosomal Recessive

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Anatomical Context for Neutropenia, Severe Congenital, 5, Autosomal Recessive

Organs/tissues related to Neutropenia, Severe Congenital, 5, Autosomal Recessive:

MalaCards : Bone Marrow, Neutrophil, Bone, Cardiac Myocytes, Cortex

ODiseA: Blood And Bone Marrow

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Publications for Neutropenia, Severe Congenital, 5, Autosomal Recessive

Articles related to Neutropenia, Severe Congenital, 5, Autosomal Recessive:

(show all 13)

#	Title	Authors	PMID	Year
1	A congenital neutrophil defect syndrome associated with mutations in VPS45. ⁵⁷ ⁵	Vilboux T...Somech R	23738510	2013
2	The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy. ⁵⁷ ⁵	Stepensky P...Mevorach D	23599270	2013
3	A rare form of congenital neutropenia: VPS45 deficiency. ⁵	Karaatmaca B...Tezcan I	32037586	2020
4	Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype-phenotype correlation. ⁵	Meerschaut I...Callewaert B	26358756	2015
5	Gene variant effects across sodium channelopathies predict function and guide precision therapy. ⁶²	Brunklaus A...Schorge S	35037686	2022
6	Full-Length Transcriptional Analysis of the Same Soybean Genotype With Compatible and Incompatible Reactions to Heterodera glycines Reveals Nematode Infection Activating Plant Defense Response. ⁶²	Huang M...Wang C	35665156	2022
7	[Discovery and study on potential effect of herbal pair of Uncariae Ramulus cum Uncis-Eucommiae Cortex on pregnancy hypertension based on network pharmacology and molecular docking]. ⁶²	Na Z...Zhi-Yong LI	33350198	2020
8	Periodontal Disease in Two Siblings with VPS45-associated Severe Congenital Neutropenia Type V: A Case Report. ⁶²	Alotaibi FA...Albarkheel AI	33623350	2020
9	Preparation and characterization of chemically TEMPO-oxidized and mechanically disintegrated sacchachitin nanofibers (SCNF) for enhanced diabetic wound healing. ⁶²	Chao FC...Sheu MT	31826505	2020
10	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
11	[Adverse reactions analysis of Aconiti Lateralis Radix Praeparata and mechanism prediction of cardiac toxicity by network pharmacology]. ⁶²	He J...Gao R	30989863	2019
12	Effects of seasonal acclimatization on thermal tolerance of inward currents in roach (Rutilus rutilus) cardiac myocytes. ⁶²	Badr A...Vornanen M	28942482	2018
13	Direct activation of the Mauthner cell by electric field pulses drives ultrarapid escape responses. ⁶²	Tabor KM...Burgess HA	24848468	2014

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Genes for Neutropenia, Severe Congenital, 5, Autosomal Recessive

Genes related to Neutropenia, Severe Congenital, 5, Autosomal Recessive (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	VPS45	Vacuolar Protein Sorting 45 Homolog	Protein Coding	1232.94	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Likely pathogenic ⁵ GeneCards inferred via : Disorders (show sections)	23738510 23599270 26358756 (more) 32037586

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Variations for Neutropenia, Severe Congenital, 5, Autosomal Recessive

ClinVar genetic disease variations for Neutropenia, Severe Congenital, 5, Autosomal Recessive:

⁵ (show top 50) (show all 289)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	VPS45	NM_007259.5(VPS45):c.671C>A (p.Thr224Asn)	SNV	Pathogenic	55906	rs879255237	GRCh37: 1:150049841-150049841 GRCh38: 1:150077763-150077763
2	VPS45	NM_007259.5(VPS45):c.712G>A (p.Glu238Lys)	SNV	Likely Pathogenic	55907	rs782269909	GRCh37: 1:150053448-150053448 GRCh38: 1:150081366-150081366
3	VPS45	NM_007259.5(VPS45):c.758C>T (p.Pro253Leu)	SNV	Conflicting Interpretations Of Pathogenicity	791006	rs143828923	GRCh37: 1:150053494-150053494 GRCh38: 1:150081412-150081412
4	VPS45	NM_007259.5(VPS45):c.475A>G (p.Thr159Ala)	SNV	Uncertain Significance	1384010		GRCh37: 1:150049208-150049208 GRCh38: 1:150077130-150077130
5	VPS45	NM_007259.5(VPS45):c.352G>A (p.Val118Ile)	SNV	Uncertain Significance	1402871		GRCh37: 1:150048373-150048373 GRCh38: 1:150076295-150076295
6	VPS45	NM_007259.5(VPS45):c.115T>A (p.Tyr39Asn)	SNV	Uncertain Significance	1379915		GRCh37: 1:150040708-150040708 GRCh38: 1:150068651-150068651
7	VPS45	NM_007259.5(VPS45):c.1141G>A (p.Glu381Lys)	SNV	Uncertain Significance	1411706		GRCh37: 1:150064067-150064067 GRCh38: 1:150091973-150091973
8	VPS45	NM_007259.5(VPS45):c.926C>T (p.Ala309Val)	SNV	Uncertain Significance	1362175		GRCh37: 1:150054069-150054069 GRCh38: 1:150081987-150081987
9	overlap with 230 genes	NC_000001.10:g.(?_149895434)_(156851434_?)dup	DUP	Uncertain Significance	1445481		GRCh37: 1:149895434-156851434 GRCh38:
10	VPS45	NM_007259.5(VPS45):c.690G>T (p.Trp230Cys)	SNV	Uncertain Significance	1437134		GRCh37: 1:150053426-150053426 GRCh38: 1:150081344-150081344
11	VPS45	NM_007259.5(VPS45):c.1186G>A (p.Glu396Lys)	SNV	Uncertain Significance	1470258		GRCh37: 1:150064112-150064112 GRCh38: 1:150092018-150092018
12	VPS45	NM_007259.5(VPS45):c.93G>A (p.Thr31=)	SNV	Uncertain Significance	1475739		GRCh37: 1:150040007-150040007 GRCh38: 1:150067950-150067950
13	VPS45	NM_007259.5(VPS45):c.1412A>G (p.His471Arg)	SNV	Uncertain Significance	1469181		GRCh37: 1:150065663-150065663 GRCh38: 1:150093567-150093567
14	VPS45	NM_007259.5(VPS45):c.319G>C (p.Val107Leu)	SNV	Uncertain Significance	1505696		GRCh37: 1:150048340-150048340 GRCh38: 1:150076262-150076262
15	VPS45	NM_007259.5(VPS45):c.404A>G (p.His135Arg)	SNV	Uncertain Significance	1488243		GRCh37: 1:150049028-150049028 GRCh38: 1:150076950-150076950
16	VPS45	NM_007259.5(VPS45):c.461A>T (p.Gln154Leu)	SNV	Uncertain Significance	1480942		GRCh37: 1:150049194-150049194 GRCh38: 1:150077116-150077116
17	VPS45	NM_007259.5(VPS45):c.1543G>A (p.Ala515Thr)	SNV	Uncertain Significance	1512288		GRCh37: 1:150082660-150082660 GRCh38: 1:150110545-150110545
18	VPS45	NM_007259.5(VPS45):c.821A>G (p.Asn274Ser)	SNV	Uncertain Significance	1514881		GRCh37: 1:150053557-150053557 GRCh38: 1:150081475-150081475
19	VPS45	NM_007259.5(VPS45):c.38A>G (p.Lys13Arg)	SNV	Uncertain Significance	1506686		GRCh37: 1:150039952-150039952 GRCh38: 1:150067895-150067895
20	VPS45	NM_007259.5(VPS45):c.1568G>T (p.Arg523Leu)	SNV	Uncertain Significance	1352799		GRCh37: 1:150082685-150082685 GRCh38: 1:150110570-150110570
21	VPS45	NM_007259.5(VPS45):c.187A>G (p.Met63Val)	SNV	Uncertain Significance	1352996		GRCh37: 1:150040780-150040780 GRCh38: 1:150068723-150068723
22	VPS45	NM_007259.5(VPS45):c.220C>T (p.Pro74Ser)	SNV	Uncertain Significance	1346302		GRCh37: 1:150040813-150040813 GRCh38: 1:150068756-150068756
23	VPS45	NM_007259.5(VPS45):c.614G>A (p.Arg205His)	SNV	Uncertain Significance	474245	rs146660821	GRCh37: 1:150049784-150049784 GRCh38: 1:150077706-150077706
24	VPS45	NM_007259.5(VPS45):c.566A>G (p.Glu189Gly)	SNV	Uncertain Significance	541273	rs144659538	GRCh37: 1:150049299-150049299 GRCh38: 1:150077221-150077221
25	VPS45	NM_007259.5(VPS45):c.1535A>G (p.Tyr512Cys)	SNV	Uncertain Significance	626050	rs782797599	GRCh37: 1:150082652-150082652 GRCh38: 1:150110537-150110537
26	VPS45	NM_007259.5(VPS45):c.319G>A (p.Val107Met)	SNV	Uncertain Significance	639607	rs782553177	GRCh37: 1:150048340-150048340 GRCh38: 1:150076262-150076262
27	VPS45	NM_007259.5(VPS45):c.1664G>A (p.Arg555Gln)	SNV	Uncertain Significance	647655	rs142968690	GRCh37: 1:150116925-150116925 GRCh38: 1:150144747-150144747
28	VPS45	NM_007259.5(VPS45):c.1174G>A (p.Ala392Thr)	SNV	Uncertain Significance	658240	rs782059726	GRCh37: 1:150064100-150064100 GRCh38: 1:150092006-150092006
29	VPS45	NM_007259.5(VPS45):c.170C>A (p.Ser57Tyr)	SNV	Uncertain Significance	659879	rs782358688	GRCh37: 1:150040763-150040763 GRCh38: 1:150068706-150068706
30	VPS45	NM_007259.5(VPS45):c.1190G>A (p.Arg397Gln)	SNV	Uncertain Significance	665526	rs373735080	GRCh37: 1:150064116-150064116 GRCh38: 1:150092022-150092022
31	VPS45	NM_007259.5(VPS45):c.1567C>T (p.Arg523Cys)	SNV	Uncertain Significance	841086	rs782426640	GRCh37: 1:150082684-150082684 GRCh38: 1:150110569-150110569
32	VPS45	NM_007259.5(VPS45):c.778A>G (p.Arg260Gly)	SNV	Uncertain Significance	850179	rs587646859	GRCh37: 1:150053514-150053514 GRCh38: 1:150081432-150081432
33	VPS45	NM_007259.5(VPS45):c.1162G>A (p.Val388Met)	SNV	Uncertain Significance	851006	rs782104716	GRCh37: 1:150064088-150064088 GRCh38: 1:150091994-150091994
34	VPS45	NM_007259.5(VPS45):c.257T>C (p.Leu86Pro)	SNV	Uncertain Significance	863733	rs782513242	GRCh37: 1:150044261-150044261 GRCh38: 1:150072194-150072194
35	VPS45	NM_007259.5(VPS45):c.695_696del (p.Tyr232fs)	MICROSAT	Uncertain Significance	864158	rs782700993	GRCh37: 1:150053429-150053430 GRCh38: 1:150081347-150081348
36	VPS45	NM_007259.5(VPS45):c.617G>A (p.Arg206Gln)	SNV	Uncertain Significance	952644	rs782495021	GRCh37: 1:150049787-150049787 GRCh38: 1:150077709-150077709
37	VPS45	NM_007259.5(VPS45):c.481G>A (p.Gly161Arg)	SNV	Uncertain Significance	960979	rs200134576	GRCh37: 1:150049214-150049214 GRCh38: 1:150077136-150077136
38	VPS45	NM_007259.5(VPS45):c.687G>C (p.Gln229His)	SNV	Uncertain Significance	966855	rs200019200	GRCh37: 1:150049857-150049857 GRCh38: 1:150077779-150077779
39	VPS45	NM_007259.5(VPS45):c.580G>A (p.Val194Met)	SNV	Uncertain Significance	970136	rs587713385	GRCh37: 1:150049750-150049750 GRCh38: 1:150077672-150077672
40	VPS45	NM_007259.5(VPS45):c.173A>G (p.Gln58Arg)	SNV	Uncertain Significance	991391	rs1654862605	GRCh37: 1:150040766-150040766 GRCh38: 1:150068709-150068709
41	VPS45	NM_007259.5(VPS45):c.353T>G (p.Val118Gly)	SNV	Uncertain Significance	991392	rs1298740891	GRCh37: 1:150048374-150048374 GRCh38: 1:150076296-150076296
42	VPS45	NM_007259.5(VPS45):c.419A>G (p.Asn140Ser)	SNV	Uncertain Significance	991394	rs782339252	GRCh37: 1:150049043-150049043 GRCh38: 1:150076965-150076965
43	VPS45	NM_007259.5(VPS45):c.443G>A (p.Arg148Gln)	SNV	Uncertain Significance	991395	rs370166172	GRCh37: 1:150049176-150049176 GRCh38: 1:150077098-150077098
44	VPS45	NM_007259.5(VPS45):c.462G>A (p.Gln154=)	SNV	Uncertain Significance	991396	rs781792682	GRCh37: 1:150049195-150049195 GRCh38: 1:150077117-150077117
45	VPS45	NM_007259.5(VPS45):c.739A>G (p.Ile247Val)	SNV	Uncertain Significance	991397	rs1553799320	GRCh37: 1:150053475-150053475 GRCh38: 1:150081393-150081393
46	VPS45	NM_007259.5(VPS45):c.1033C>T (p.Arg345Trp)	SNV	Uncertain Significance	991398	rs782225422	GRCh37: 1:150054896-150054896 GRCh38: 1:150082812-150082812
47	VPS45	NM_007259.5(VPS45):c.1133A>G (p.Lys378Arg)	SNV	Uncertain Significance	991399	rs190896405	GRCh37: 1:150064059-150064059 GRCh38: 1:150091965-150091965
48	VPS45	NM_007259.5(VPS45):c.1181A>G (p.His394Arg)	SNV	Uncertain Significance	991400	rs1486347658	GRCh37: 1:150064107-150064107 GRCh38: 1:150092013-150092013
49	VPS45	NM_007259.5(VPS45):c.613C>T (p.Arg205Cys)	SNV	Uncertain Significance	1020881	rs908608470	GRCh37: 1:150049783-150049783 GRCh38: 1:150077705-150077705
50	VPS45	NM_007259.5(VPS45):c.223A>G (p.Thr75Ala)	SNV	Uncertain Significance	1029151	rs782052786	GRCh37: 1:150040816-150040816 GRCh38: 1:150068759-150068759

UniProtKB/Swiss-Prot genetic disease variations for Neutropenia, Severe Congenital, 5, Autosomal Recessive:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	VPS45	p.Thr224Asn	VAR_069865	rs879255237
2	VPS45	p.Glu238Lys	VAR_069866	rs782269909

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Expression for Neutropenia, Severe Congenital, 5, Autosomal Recessive

Search GEO for disease gene expression data for Neutropenia, Severe Congenital, 5, Autosomal Recessive.

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Pathways for Neutropenia, Severe Congenital, 5, Autosomal Recessive

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GO Terms for Neutropenia, Severe Congenital, 5, Autosomal Recessive

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Sources for Neutropenia, Severe Congenital, 5, Autosomal Recessive

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²⁰ GeneAnalytics

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²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

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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

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⁵¹ NIH Clinical Center

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⁵³ Novoseek

⁵⁴ Novus Biologicals

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⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

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⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

SCN5 MCID: NTR031 MIFTS: 30	Neutropenia, Severe Congenital, 5, Autosomal Recessive (SCN5) 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, 5, Autosomal Recessive (SCN5)

Aliases & Classifications for Neutropenia, Severe Congenital, 5, Autosomal Recessive

MalaCards integrated aliases for Neutropenia, Severe Congenital, 5, Autosomal Recessive:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Neutropenia, Severe Congenital, 5, Autosomal Recessive

Related Diseases for Neutropenia, Severe Congenital, 5, Autosomal Recessive

Diseases in the Neutropenia family:

Diseases related to Neutropenia, Severe Congenital, 5, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Neutropenia, Severe Congenital, 5, Autosomal Recessive

Human phenotypes related to Neutropenia, Severe Congenital, 5, Autosomal Recessive:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Neutropenia, Severe Congenital, 5, Autosomal Recessive

Genetic Tests for Neutropenia, Severe Congenital, 5, Autosomal Recessive

Anatomical Context for Neutropenia, Severe Congenital, 5, Autosomal Recessive

Organs/tissues related to Neutropenia, Severe Congenital, 5, Autosomal Recessive:

Publications for Neutropenia, Severe Congenital, 5, Autosomal Recessive

Articles related to Neutropenia, Severe Congenital, 5, Autosomal Recessive:

Genes for Neutropenia, Severe Congenital, 5, Autosomal Recessive

Genes related to Neutropenia, Severe Congenital, 5, Autosomal Recessive (1 elite genes):

Variations for Neutropenia, Severe Congenital, 5, Autosomal Recessive

ClinVar genetic disease variations for Neutropenia, Severe Congenital, 5, Autosomal Recessive:

UniProtKB/Swiss-Prot genetic disease variations for Neutropenia, Severe Congenital, 5, Autosomal Recessive:

Expression for Neutropenia, Severe Congenital, 5, Autosomal Recessive

Pathways for Neutropenia, Severe Congenital, 5, Autosomal Recessive

GO Terms for Neutropenia, Severe Congenital, 5, Autosomal Recessive

Sources for Neutropenia, Severe Congenital, 5, Autosomal Recessive