MCID: CRB100

Cerebrooculofacioskeletal Syndrome 4 malady

Genetic diseases (common) category

Summaries for Cerebrooculofacioskeletal Syndrome 4

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Sources:
66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 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-complementation group 1). Affiliated tissues include eye.

Description from OMIM:48 610758

Aliases & Classifications for Cerebrooculofacioskeletal Syndrome 4

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Sources:
48OMIM, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

cerebrooculofacioskeletal syndrome 4 48 63


Related Diseases for Cerebrooculofacioskeletal Syndrome 4

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Symptoms for Cerebrooculofacioskeletal Syndrome 4

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48OMIM
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Symptoms by clinical synopsis from OMIM:

610758

Clinical features from OMIM:

610758

Drugs & Therapeutics for Cerebrooculofacioskeletal Syndrome 4

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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34MalaCards
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MalaCards organs/tissues related to Cerebrooculofacioskeletal Syndrome 4:

34
Eye

Animal Models for Cerebrooculofacioskeletal Syndrome 4 or affiliated genes

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Publications for Cerebrooculofacioskeletal Syndrome 4

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Variations for Cerebrooculofacioskeletal Syndrome 4

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Cerebrooculofacioskeletal Syndrome 4:

65
id Symbol AA change Variation ID SNP ID
1ERCC1p.Phe231LeuVAR_032776

Clinvar genetic disease variations for Cerebrooculofacioskeletal Syndrome 4:

1
id Gene Name Type Significance SNP ID Assembly Location
1ERCC1NM_001983.3(ERCC1): c.472C> T (p.Gln158Ter)single nucleotide variantPathogenicrs121913027GRCh37Chr 19, 45922409: 45922409
2ERCC1NM_001983.3(ERCC1): c.693C> G (p.Phe231Leu)single nucleotide variantPathogenicrs121913028GRCh37Chr 19, 45918128: 45918128

Expression for genes affiliated with Cerebrooculofacioskeletal Syndrome 4

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Sources:
2BioGPS, 16Gene 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet