MCID: CRD163
MIFTS: 12

Cardiofaciocutaneous Syndrome 2 malady

Genetic diseases, Cardiovascular diseases, Rare diseases, Neuronal diseases, Skin diseases, Fetal diseases categories
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Summaries for Cardiofaciocutaneous Syndrome 2

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47OMIM, 33MalaCards
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MalaCards: Cardiofaciocutaneous Syndrome 2 An important gene associated with Cardiofaciocutaneous Syndrome 2 is KRAS (Kirsten rat sarcoma viral oncogene homolog). Affiliated tissues include heart and skin.

Description from OMIM:47 615278

Aliases & Classifications for Cardiofaciocutaneous Syndrome 2

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47OMIM
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Classifications:



Aliases & Descriptions:

cardiofaciocutaneous syndrome 2 47


Related Diseases for Cardiofaciocutaneous Syndrome 2

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Symptoms for Cardiofaciocutaneous Syndrome 2

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47OMIM
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Clinical features from OMIM:

615278

Drugs & Therapeutics for Cardiofaciocutaneous Syndrome 2

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Cardiofaciocutaneous Syndrome 2

Search NIH Clinical Center for Cardiofaciocutaneous Syndrome 2

Genetic Tests for Cardiofaciocutaneous Syndrome 2

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Anatomical Context for Cardiofaciocutaneous Syndrome 2

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33MalaCards
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MalaCards organs/tissues related to Cardiofaciocutaneous Syndrome 2:

33
Heart, Skin

Animal Models for Cardiofaciocutaneous Syndrome 2 or affiliated genes

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Publications for Cardiofaciocutaneous Syndrome 2

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Variations for Cardiofaciocutaneous Syndrome 2

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Cardiofaciocutaneous Syndrome 2:

64
id Symbol AA change Variation ID SNP ID
1KRASp.Pro34ArgVAR_026110
2KRASp.Gly60ArgVAR_026112
3KRASp.Gln22GluVAR_064850
4KRASp.Tyr71HisVAR_069784
5KRASp.Lys147GluVAR_069785

Clinvar genetic disease variations for Cardiofaciocutaneous Syndrome 2:

1
id Gene Name Type Significance SNP ID Assembly Location
1KRASNM_033360.3(KRAS): c.178G> C (p.Gly60Arg)single nucleotide variantPathogenicrs104894359GRCh37Chr 12, 25380280: 25380280
2KRASNM_004985.4(KRAS): c.458A> T (p.Asp153Val)single nucleotide variantPathogenicrs104894360GRCh37Chr 12, 25362838: 25362838
3KRASNM_033360.3(KRAS): c.101C> G (p.Pro34Arg)single nucleotide variantPathogenicrs104894366GRCh37Chr 12, 25398218: 25398218
4KRASNM_033360.3(KRAS): c.15A> T (p.Lys5Asn)single nucleotide variantPathogenicrs104894361GRCh37Chr 12, 25398304: 25398304
5KRASNM_004985.4(KRAS): c.468C> G (p.Phe156Leu)single nucleotide variantPathogenicrs104894362GRCh37Chr 12, 25362828: 25362828
6KRASNM_033360.3(KRAS): c.211T> C (p.Tyr71His)single nucleotide variantPathogenicrs387907205GRCh37Chr 12, 25380247: 25380247
7KRASNM_033360.3(KRAS): c.439A> G (p.Lys147Glu)single nucleotide variantPathogenicrs387907206GRCh37Chr 12, 25378559: 25378559

Expression for genes affiliated with Cardiofaciocutaneous Syndrome 2

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cardiofaciocutaneous Syndrome 2

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Pathways for genes affiliated with Cardiofaciocutaneous Syndrome 2

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Compounds for genes affiliated with Cardiofaciocutaneous Syndrome 2

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GO Terms for genes affiliated with Cardiofaciocutaneous Syndrome 2

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Products for genes affiliated with Cardiofaciocutaneous Syndrome 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cardiofaciocutaneous Syndrome 2

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet