MCID: CRB100

Cerebrooculofacioskeletal Syndrome 4 malady

Summaries for Cerebrooculofacioskeletal Syndrome 4

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Sources:
63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Cockayne syndrome (also called Weber-Cockayne syndrome, or Neill-Dingwall syndrome) is a rare autosomal... more...

MalaCards: Cerebrooculofacioskeletal Syndrome 4 An important gene associated with Cerebrooculofacioskeletal Syndrome 4 is ERCC1 (excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)). Affiliated tissues include eye.

Description from OMIM:46 610758

Aliases & Classifications for Cerebrooculofacioskeletal Syndrome 4

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46OMIM, 60UMLS
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Aliases & Descriptions:

cerebrooculofacioskeletal syndrome 4 46 60


Related Diseases for Cerebrooculofacioskeletal Syndrome 4

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Clinical Features for Cerebrooculofacioskeletal Syndrome 4

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46OMIM
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Clinical features from OMIM:

610758

Clinical synopsis from OMIM:

610758

Drugs & Therapeutics for Cerebrooculofacioskeletal Syndrome 4

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

Search CenterWatch for Cerebrooculofacioskeletal Syndrome 4

Drug clinical trials:

Search ClinicalTrials for Cerebrooculofacioskeletal Syndrome 4

Search NIH Clinical Center for Cerebrooculofacioskeletal Syndrome 4

Search CenterWatch for Cerebrooculofacioskeletal Syndrome 4

Genetic Tests for Cerebrooculofacioskeletal Syndrome 4

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Anatomical Context for Cerebrooculofacioskeletal Syndrome 4

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32MalaCards
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MalaCards organs/tissues related to Cerebrooculofacioskeletal Syndrome 4:

32
Eye

Animal Models for Cerebrooculofacioskeletal Syndrome 4 or affiliated genes

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Publications for Cerebrooculofacioskeletal Syndrome 4

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Genetic Variations for Cerebrooculofacioskeletal Syndrome 4

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Cerebrooculofacioskeletal Syndrome 4:

62
id Symbol AA change Variation ID SNP ID
1ERCC1p.Phe231LeuVAR_032776

Expression for genes affiliated with Cerebrooculofacioskeletal Syndrome 4

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cerebrooculofacioskeletal Syndrome 4

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Pathways for genes affiliated with Cerebrooculofacioskeletal Syndrome 4

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Compounds for genes affiliated with Cerebrooculofacioskeletal Syndrome 4

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GO Terms for genes affiliated with Cerebrooculofacioskeletal Syndrome 4

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Products for genes affiliated with Cerebrooculofacioskeletal Syndrome 4

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cerebrooculofacioskeletal Syndrome 4

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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