MCID: NKX001
MIFTS: 4

Nkx2-1-Related Disorders

Categories: Genetic diseases

Aliases & Classifications for Nkx2-1-Related Disorders

MalaCards integrated aliases for Nkx2-1-Related Disorders:

Name: Nkx2-1-Related Disorders 23 24

Characteristics:

GeneReviews:

23
Penetrance No studies have evaluated the penetrance of nkx2-1 pathogenic variants though observational case reports of families suggest a variable penetrance...

Classifications:



Summaries for Nkx2-1-Related Disorders

MalaCards based summary : Nkx2-1-Related Disorders is related to choreoathetosis, hypothyroidism, and neonatal respiratory distress. An important gene associated with Nkx2-1-Related Disorders is NKX2-1 (NK2 Homeobox 1).

GeneReviews: NBK185066

Related Diseases for Nkx2-1-Related Disorders

Diseases related to Nkx2-1-Related Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 choreoathetosis, hypothyroidism, and neonatal respiratory distress 10.8

Symptoms & Phenotypes for Nkx2-1-Related Disorders

Drugs & Therapeutics for Nkx2-1-Related Disorders

Search Clinical Trials , NIH Clinical Center for Nkx2-1-Related Disorders

Genetic Tests for Nkx2-1-Related Disorders

Genetic tests related to Nkx2-1-Related Disorders:

id Genetic test Affiliating Genes
1 Nkx2-1-Related Disorders 24 NKX2-1

Anatomical Context for Nkx2-1-Related Disorders

Publications for Nkx2-1-Related Disorders

Articles related to Nkx2-1-Related Disorders:

id Title Authors Year
1
NKX2-1-Related Disorders ( 24555207 )
1993

Variations for Nkx2-1-Related Disorders

Expression for Nkx2-1-Related Disorders

Search GEO for disease gene expression data for Nkx2-1-Related Disorders.

Pathways for Nkx2-1-Related Disorders

GO Terms for Nkx2-1-Related Disorders

Sources for Nkx2-1-Related Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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