MCID: KT6001

Kat6b-Related Disorders malady

Category: Genetic diseases (common)

Aliases & Classifications for Kat6b-Related Disorders

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Aliases & Descriptions for Kat6b-Related Disorders:

Name: Kat6b-Related Disorders 23 24

Characteristics:

GeneReviews:

23
Penetrance: kat6b alleles with truncating pathogenic variants have a high penetrance. truncating variants are not found in polymorphism databases and all family members with truncating variants reported have findings of gps or sbbyss [campeau et al 2012a, simpson et al 2012]...


Classifications:



Summaries for Kat6b-Related Disorders

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MalaCards based summary: Kat6b-Related Disorders is related to genitopatellar syndrome. An important gene associated with Kat6b-Related Disorders is KAT6B (Lysine Acetyltransferase 6B).

GeneReviews for NBK114806

Related Diseases for Kat6b-Related Disorders

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Diseases related to Kat6b-Related Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1genitopatellar syndrome9.8

Symptoms & Phenotypes for Kat6b-Related Disorders

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Drugs & Therapeutics for Kat6b-Related Disorders

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Kat6b-Related Disorders

Genetic Tests for Kat6b-Related Disorders

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Genetic tests related to Kat6b-Related Disorders:

id Genetic test Affiliating Genes
1 Kat6b-Related Disorders24 KAT6B

Anatomical Context for Kat6b-Related Disorders

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Publications for Kat6b-Related Disorders

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Articles related to Kat6b-Related Disorders:

idTitleAuthorsYear
1
Features of KAT6B-related disorders in a patient with 10q22.1q22.3 deletion. (27880066)
2016
2
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. (22715153)
2012
3
KAT6B-Related Disorders (23236640)
1993

Variations for Kat6b-Related Disorders

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Expression for genes affiliated with Kat6b-Related Disorders

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Search GEO for disease gene expression data for Kat6b-Related Disorders.

Pathways for genes affiliated with Kat6b-Related Disorders

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GO Terms for genes affiliated with Kat6b-Related Disorders

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Sources for Kat6b-Related Disorders

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet