SCN6
MCID: SVR108
MIFTS: 9

Severe Congenital Neutropenia 6 (SCN6)

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 6

MalaCards integrated aliases for Severe Congenital Neutropenia 6:

Name: Severe Congenital Neutropenia 6 12
Autosomal Recessive Severe Congenital Neutropenia Due to Jagn1 Deficiency 12
Scn6 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0112134

Summaries for Severe Congenital Neutropenia 6

Disease Ontology : 12 A severe congenital neutropenia that has material basis in homozygous or compound heterozygous mutation in JAGN1 on chromosome 3p25.3.

MalaCards based summary : Severe Congenital Neutropenia 6, also known as autosomal recessive severe congenital neutropenia due to jagn1 deficiency, is related to neutropenia, severe congenital, 6, autosomal recessive. An important gene associated with Severe Congenital Neutropenia 6 is JAGN1 (Jagunal Homolog 1).

Symptoms & Phenotypes for Severe Congenital Neutropenia 6

Drugs & Therapeutics for Severe Congenital Neutropenia 6

Search Clinical Trials , NIH Clinical Center for Severe Congenital Neutropenia 6

Genetic Tests for Severe Congenital Neutropenia 6

Anatomical Context for Severe Congenital Neutropenia 6

Publications for Severe Congenital Neutropenia 6

Articles related to Severe Congenital Neutropenia 6:

# Title Authors PMID Year
1
[Application of subtractive hybridization in screening for colorectal cancer negatively related genes]. 61
9596923 1997

Variations for Severe Congenital Neutropenia 6

Expression for Severe Congenital Neutropenia 6

Search GEO for disease gene expression data for Severe Congenital Neutropenia 6.

Pathways for Severe Congenital Neutropenia 6

GO Terms for Severe Congenital Neutropenia 6

Sources for Severe Congenital Neutropenia 6

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
Content
Loading form....