MCID: WRD027
MIFTS: 24

Waardenburg Syndrome Type Iid malady

Summaries for Waardenburg Syndrome Type Iid

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47OMIM, 33MalaCards
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MalaCards: Waardenburg Syndrome Type Iid, also known as waardenburg syndrome, type 2d, is related to waardenburg's syndrome and waardenburg syndrome type i. An important gene associated with Waardenburg Syndrome Type Iid is SNAI2 (snail family zinc finger 2), and among its related pathways are Wnt / Hedgehog / Notch and Neural Crest Differentiation. Affiliated tissues include skin.

Description from OMIM:47 608890

Aliases & Classifications for Waardenburg Syndrome Type Iid

Sources:
20GeneTests, 22GTR, 47OMIM, 61UMLS
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Aliases & Descriptions:

waardenburg syndrome type iid 20 22
waardenburg syndrome, type 2d 47
waardenburg syndrome, type i 61


Related Diseases for Waardenburg Syndrome Type Iid

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Waardenburg Syndrome Type Iid:



Diseases related to waardenburg syndrome type iid

Clinical Features for Waardenburg Syndrome Type Iid

Sources:
47OMIM
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Clinical features from OMIM:

608890

Clinical synopsis from OMIM:

608890

Drugs & Therapeutics for Waardenburg Syndrome Type Iid

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Waardenburg Syndrome Type Iid

Drug clinical trials:

Search ClinicalTrials for Waardenburg Syndrome Type Iid

Search NIH Clinical Center for Waardenburg Syndrome Type Iid

Search CenterWatch for Waardenburg Syndrome Type Iid

Genetic Tests for Waardenburg Syndrome Type Iid

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20GeneTests, 22GTR
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Genetic tests related to Waardenburg Syndrome Type Iid:

id Genetic test Affiliating Genes
1 Waardenburg Syndrome Type Iid20 SNAI2
2 Waardenburg Syndrome Type 2d22

Anatomical Context for Waardenburg Syndrome Type Iid

Sources:
33MalaCards
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MalaCards organs/tissues related to Waardenburg Syndrome Type Iid:

33
Skin

Animal Models for Waardenburg Syndrome Type Iid or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Waardenburg Syndrome Type Iid

Genetic Variations for Waardenburg Syndrome Type Iid

Expression for genes affiliated with Waardenburg Syndrome Type Iid

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Waardenburg Syndrome Type Iid

Search GEO for disease gene expression data for Waardenburg Syndrome Type Iid.

Pathways for genes affiliated with Waardenburg Syndrome Type Iid

Sources:
4Cell Signaling Technology, 38NCBI BioSystems Database, 30KEGG
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Pathways related to Waardenburg Syndrome Type Iid according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3SNAI2, SNAI1
29.3SNAI2, SNAI1
39.3SNAI2, SNAI1

Compounds for genes affiliated with Waardenburg Syndrome Type Iid

GO Terms for genes affiliated with Waardenburg Syndrome Type Iid

Sources:
16Gene Ontology
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Biological processes related to Waardenburg Syndrome Type Iid according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of vitamin D biosynthetic processGO:0109579.5SNAI2, SNAI1
2cartilage morphogenesisGO:0605369.5SNAI1, SNAI2
3regulation of tight junction assemblyGO:20008109.5SNAI1, SNAI2
4negative regulation of DNA damage response, signal transduction by p53 class mediatorGO:0435189.4SNAI1, SNAI2
5negative regulation of intrinsic apoptotic signaling pathway in response to DNA damageGO:19022309.4SNAI1, SNAI2
6epithelial to mesenchymal transitionGO:0018379.3SNAI2, SNAI1
7positive regulation of cell migrationGO:0303359.3SNAI2, SNAI1
8osteoblast differentiationGO:0016499.2SNAI1, SNAI2
9palate developmentGO:0600219.0SNAI1, SNAI2

Molecular functions related to Waardenburg Syndrome Type Iid according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negativeGO:0010789.3SNAI2, SNAI1

Products for genes affiliated with Waardenburg Syndrome Type Iid

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Waardenburg Syndrome Type Iid

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet