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

Aliases & Classifications for Severe Congenital Neutropenia 2

MalaCards integrated aliases for Severe Congenital Neutropenia 2:

Name: Severe Congenital Neutropenia 2 ¹¹ ¹⁴

Scn2 ¹¹

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:

Disease Ontology ¹¹ DOID:0112131

Sources

Summaries for Severe Congenital Neutropenia 2

Disease Ontology: ¹¹ An autosomal dominant severe congenital neutropenia that has material basis in heterozygous mutation in GFI1 on chromosome 1p22.1.

MalaCards based summary: Severe Congenital Neutropenia 2, also known as scn2, is related to neutropenia, severe congenital, 2, autosomal dominant and autosomal dominant severe congenital neutropenia. An important gene associated with Severe Congenital Neutropenia 2 is MIMT1 (MER1 Repeat Containing Imprinted Transcript 1). Affiliated tissues include brain.

Sources

Related Diseases for Severe Congenital Neutropenia 2

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 Severe Congenital Neutropenia 2 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	neutropenia, severe congenital, 2, autosomal dominant	11.2
2	autosomal dominant severe congenital neutropenia	9.7	SNORD80 MIMT1 GFI1
3	migraine, familial hemiplegic, 3	9.6	SCN2A CPQ
4	familial hemiplegic migraine	9.6	SCN2A CPQ
5	prion disease	9.6	SCN2A FPR2
6	migraine with aura	9.4	SCN2A CPQ

Graphical network of the top 20 diseases related to Severe Congenital Neutropenia 2:

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Symptoms & Phenotypes for Severe Congenital Neutropenia 2

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Drugs & Therapeutics for Severe Congenital Neutropenia 2

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

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Genetic Tests for Severe Congenital Neutropenia 2

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Anatomical Context for Severe Congenital Neutropenia 2

Organs/tissues related to Severe Congenital Neutropenia 2:

MalaCards : Brain

Sources

Publications for Severe Congenital Neutropenia 2

Articles related to Severe Congenital Neutropenia 2:

(show all 11)

#	Title	Authors	PMID	Year
1	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
2	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
3	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
4	Suppression by an h current of spontaneous Na+ action potentials in human cone and rod photoreceptors. ⁶²	Kawai F...Miyachi E	15623800	2005
5	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
6	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
7	Li3[ScN2]: the first nitridoscandate(III)-tetrahedral Sc coordination and unusual MX2 framework. ⁶²	Niewa R...Leoni S	12953211	2003
8	Vesicle-associated membrane protein of Arabidopsis suppresses Bax-induced apoptosis in yeast downstream of oxidative burst. ⁶²	Levine A...Granot D	11551960	2001
9	Bypassing anaphase by fission yeast cut9 mutation: requirement of cut9+ to initiate anaphase. ⁶²	Samejima I...Yanagida M	7798319	1994
10	Use of recombinant inbred strains for studying genetic determinants of responses to alcohol. ⁶²	Crabbe JC...Metten P	8974318	1994
11	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

Sources

Genes for Severe Congenital Neutropenia 2

Genes related to Severe Congenital Neutropenia 2 (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	MIMT1	MER1 Repeat Containing Imprinted Transcript 1	RNA Gene	6.04	DISEASES inferred ¹⁴
2	SNORD80	Small Nucleolar RNA, C/D Box 80	RNA Gene	5.73	DISEASES inferred ¹⁴
3	LSS	Lanosterol Synthase	Protein Coding	5.16	DISEASES inferred ¹⁴
4	NIPBL	NIPBL Cohesin Loading Factor	Protein Coding	4.99	DISEASES inferred ¹⁴
5	GFI1	Growth Factor Independent 1 Transcriptional Repressor	Protein Coding	4.92	DISEASES inferred ¹⁴
6	CPQ	Carboxypeptidase Q	Protein Coding	4.83	DISEASES inferred ¹⁴
7	SCN2A	Sodium Voltage-Gated Channel Alpha Subunit 2	Protein Coding	4.72	DISEASES inferred ¹⁴
8	FPR2	Formyl Peptide Receptor 2	Protein Coding	4.7	DISEASES inferred ¹⁴

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Variations for Severe Congenital Neutropenia 2

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Expression for Severe Congenital Neutropenia 2

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

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Pathways for Severe Congenital Neutropenia 2

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GO Terms for Severe Congenital Neutropenia 2

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Sources for Severe Congenital Neutropenia 2

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

⁶³ PubMed Health

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: SVR105 MIFTS: 16	Severe Congenital Neutropenia 2 (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 Tissues Related diseases Publications Expand all tables

Severe Congenital Neutropenia 2 (SCN2)

Aliases & Classifications for Severe Congenital Neutropenia 2

MalaCards integrated aliases for Severe Congenital Neutropenia 2:

Classifications:

External Ids:

Summaries for Severe Congenital Neutropenia 2

Related Diseases for Severe Congenital Neutropenia 2

Diseases in the Neutropenia family:

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

Graphical network of the top 20 diseases related to Severe Congenital Neutropenia 2:

Symptoms & Phenotypes for Severe Congenital Neutropenia 2

Drugs & Therapeutics for Severe Congenital Neutropenia 2

Genetic Tests for Severe Congenital Neutropenia 2

Anatomical Context for Severe Congenital Neutropenia 2

Organs/tissues related to Severe Congenital Neutropenia 2:

Publications for Severe Congenital Neutropenia 2

Articles related to Severe Congenital Neutropenia 2:

Genes for Severe Congenital Neutropenia 2

Genes related to Severe Congenital Neutropenia 2 (0 elite genes):

Variations for Severe Congenital Neutropenia 2

Expression for Severe Congenital Neutropenia 2

Pathways for Severe Congenital Neutropenia 2

GO Terms for Severe Congenital Neutropenia 2

Sources for Severe Congenital Neutropenia 2