MCID: KRT034

Krt6a-Related Pachyonychia Congenita malady

Categories: Genetic diseases, Rare diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Krt6a-Related Pachyonychia Congenita

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Aliases & Descriptions for Krt6a-Related Pachyonychia Congenita:

Name: Krt6a-Related Pachyonychia Congenita 24
 
Pc-K6a 24 26

Classifications:



Summaries for Krt6a-Related Pachyonychia Congenita

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MalaCards based summary: Krt6a-Related Pachyonychia Congenita, is also known as pc-k6a An important gene associated with Krt6a-Related Pachyonychia Congenita is KRT6A (Keratin 6A).

Related Diseases for Krt6a-Related Pachyonychia Congenita

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Symptoms for Krt6a-Related Pachyonychia Congenita

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Drugs & Therapeutics for Krt6a-Related Pachyonychia Congenita

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Krt6a-Related Pachyonychia Congenita

Genetic Tests for Krt6a-Related Pachyonychia Congenita

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Genetic tests related to Krt6a-Related Pachyonychia Congenita:

id Genetic test Affiliating Genes
1 Pc-K6a26
2 Krt6a-Related Pachyonychia Congenita24 KRT6A

Anatomical Context for Krt6a-Related Pachyonychia Congenita

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Animal Models for Krt6a-Related Pachyonychia Congenita or affiliated genes

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Publications for Krt6a-Related Pachyonychia Congenita

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Variations for Krt6a-Related Pachyonychia Congenita

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Clinvar genetic disease variations for Krt6a-Related Pachyonychia Congenita:

5
id Gene Variation Type Significance SNP ID Assembly Location
1KRT6ANM_005554.3(KRT6A): c.516_518delCAA (p.Asn172del)deletionPathogenicrs606231214GRCh37Chr 12, 52886455: 52886457
2KRT6ANM_005554.3(KRT6A): c.520T> G (p.Phe174Val)SNVPathogenicrs28933087GRCh37Chr 12, 52886453: 52886453
3KRT6ANM_005554.3(KRT6A): c.1414G> A (p.Glu472Lys)SNVPathogenicrs60554162GRCh37Chr 12, 52882122: 52882122
4KRT6ANM_005554.3(KRT6A): c.1406T> G (p.Leu469Arg)SNVPathogenicrs57052654GRCh37Chr 12, 52882130: 52882130
5KRT6ANM_005554.3(KRT6A): c.1406T> C (p.Leu469Pro)SNVPathogenicrs57052654GRCh37Chr 12, 52882130: 52882130
6KRT6ANM_005554.3(KRT6A): c.511A> G (p.Asn171Asp)SNVPathogenicrs62635294GRCh37Chr 12, 52886462: 52886462
7KRT6ANM_005554.3(KRT6A): c.511A> T (p.Asn171Tyr)SNVPathogenicrs62635294GRCh37Chr 12, 52886462: 52886462
8KRT6ANM_005554.3(KRT6A): c.512A> G (p.Asn171Ser)SNVPathogenicrs58556099GRCh37Chr 12, 52886461: 52886461
9KRT6ANM_005554.3(KRT6A): c.513C> A (p.Asn171Lys)SNVPathogenicrs59685571GRCh37Chr 12, 52886460: 52886460
10KRT6ANM_005554.3(KRT6A): c.521T> C (p.Phe174Ser)SNVPathogenicrs61145796GRCh37Chr 12, 52886452: 52886452

Expression for genes affiliated with Krt6a-Related Pachyonychia Congenita

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Search GEO for disease gene expression data for Krt6a-Related Pachyonychia Congenita.

Pathways for genes affiliated with Krt6a-Related Pachyonychia Congenita

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GO Terms for genes affiliated with Krt6a-Related Pachyonychia Congenita

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Sources for Krt6a-Related Pachyonychia Congenita

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet