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

Aliases & Classifications for Severe Congenital Neutropenia 2

MalaCards integrated aliases for Severe Congenital Neutropenia 2:

Name: Severe Congenital Neutropenia 2 12
Scn2 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0112131

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).

Symptoms & Phenotypes for Severe Congenital Neutropenia 2

Drugs & Therapeutics for Severe Congenital Neutropenia 2

Search Clinical Trials , NIH Clinical Center 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:

(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
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
31155258 2019
3
Interaction of the early 3d transition metals Sc, Ti, V, and Cr with N2: an ab initio study. 61
16542078 2006
4
Suppression by an h current of spontaneous Na+ action potentials in human cone and rod photoreceptors. 61
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
15067524 2004
6
Suppression of a mitotic mutant by tRNA-Ala anticodon mutations that produce a dominant defect in late mitosis. 61
15126629 2004
7
Li3[ScN2]: the first nitridoscandate(III)-tetrahedral Sc coordination and unusual MX2 framework. 61
12953211 2003
8
Vesicle-associated membrane protein of Arabidopsis suppresses Bax-induced apoptosis in yeast downstream of oxidative burst. 61
11551960 2001
9
Bypassing anaphase by fission yeast cut9 mutation: requirement of cut9+ to initiate anaphase. 61
7798319 1994
10
Use of recombinant inbred strains for studying genetic determinants of responses to alcohol. 61
8974318 1994
11
Cytoprotective effect of NMDA receptor antagonists on prion protein (PrionSc)-induced toxicity in rat cortical cell cultures. 61
7901042 1993

Variations for Severe Congenital Neutropenia 2

Expression for Severe Congenital Neutropenia 2

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

Pathways for Severe Congenital Neutropenia 2

GO Terms for Severe Congenital Neutropenia 2

Sources for Severe Congenital Neutropenia 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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