MCID: WRD027
MIFTS: 26

Waardenburg Syndrome Type Iid malady

Summaries for Waardenburg Syndrome Type Iid

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46OMIM, 32MalaCards
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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 eye and skin.

Description from OMIM:46 608890

Aliases & Classifications for Waardenburg Syndrome Type Iid

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20GeneTests, 22GTR, 46OMIM, 60UMLS
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Aliases & Descriptions:

waardenburg syndrome type iid 20 22
waardenburg syndrome, type 2d 46
waardenburg syndrome, type i 60


Related Diseases for Waardenburg Syndrome Type Iid

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



Diseases related to waardenburg syndrome type iid

Clinical Features for Waardenburg Syndrome Type Iid

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46OMIM
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Clinical features from OMIM:

608890

Clinical synopsis from OMIM:

608890

Drugs & Therapeutics for Waardenburg Syndrome Type Iid

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Waardenburg Syndrome Type Iid

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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

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32MalaCards
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MalaCards organs/tissues related to Waardenburg Syndrome Type Iid:

32
Eye, Skin

Animal Models for Waardenburg Syndrome Type Iid or affiliated genes

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Publications for Waardenburg Syndrome Type Iid

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Genetic Variations for Waardenburg Syndrome Type Iid

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Expression for genes affiliated with Waardenburg Syndrome Type Iid

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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

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4Cell Signaling Technology, 37NCBI BioSystems Database, 29KEGG
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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

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GO Terms for genes affiliated with Waardenburg Syndrome Type Iid

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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:0605369.5SNAI2, SNAI1
3regulation of tight junction assemblyGO:20008109.5SNAI2, SNAI1
4negative regulation of DNA damage response, signal transduction by p53 class mediatorGO:0435189.4SNAI2, SNAI1
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:0016499.2SNAI2, SNAI1
9palate developmentGO:0600219.0SNAI2, SNAI1

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Waardenburg Syndrome Type Iid

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet