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

SCN2 MCID: SVR105 MIFTS: 10	Severe Congenital Neutropenia 2 (SCN2) Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Immune diseases, Infectious diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Genes Related diseases Publications Expand all tables

Sources

Aliases & Classifications for Severe Congenital Neutropenia 2

MalaCards integrated aliases for Severe Congenital Neutropenia 2:

Name: Severe Congenital Neutropenia 2 ¹²

Scn2 ¹²

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0112131

Sources

Summaries for Severe Congenital Neutropenia 2

Disease Ontology : ¹² 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. An important gene associated with Severe Congenital Neutropenia 2 is GFI1 (Growth Factor Independent 1 Transcriptional Repressor).

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	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	11.4

Sources

Symptoms & Phenotypes for Severe Congenital Neutropenia 2

Sources

Drugs & Therapeutics for Severe Congenital Neutropenia 2

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

Sources

Genetic Tests for Severe Congenital Neutropenia 2

Sources

Anatomical Context for Severe Congenital Neutropenia 2

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. ⁶¹	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. ⁶¹	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. ⁶¹	Kardahakis S...Mavridis A	16542078	2006
4	Suppression by an h current of spontaneous Na+ action potentials in human cone and rod photoreceptors. ⁶¹	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. ⁶¹	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. ⁶¹	Kimata Y...Yanagida M	15126629	2004
7	Li3[ScN2]: the first nitridoscandate(III)-tetrahedral Sc coordination and unusual MX2 framework. ⁶¹	Niewa R...Leoni S	12953211	2003
8	Vesicle-associated membrane protein of Arabidopsis suppresses Bax-induced apoptosis in yeast downstream of oxidative burst. ⁶¹	Levine A...Granot D	11551960	2001
9	Bypassing anaphase by fission yeast cut9 mutation: requirement of cut9+ to initiate anaphase. ⁶¹	Samejima I...Yanagida M	7798319	1994
10	Use of recombinant inbred strains for studying genetic determinants of responses to alcohol. ⁶¹	Crabbe JC...Metten P	8974318	1994
11	Cytoprotective effect of NMDA receptor antagonists on prion protein (PrionSc)-induced toxicity in rat cortical cell cultures. ⁶¹	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	PubMed IDs
1	GFI1	Growth Factor Independent 1 Transcriptional Repressor	Protein Coding	9.33	GeneCards inferred via : Variants (show sections)

Sources

Variations for Severe Congenital Neutropenia 2

Sources

Expression for Severe Congenital Neutropenia 2

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

Sources

Pathways for Severe Congenital Neutropenia 2

Sources

GO Terms for Severe Congenital Neutropenia 2

Sources

Sources for Severe Congenital Neutropenia 2

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

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

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:

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

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