MCID: CRD163
MIFTS: 12

Cardiofaciocutaneous Syndrome 2 malady

Genetic diseases, Cardiovascular diseases, Rare diseases, Neuronal diseases, Skin diseases, Fetal diseases categories

Summaries for Cardiofaciocutaneous Syndrome 2

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48OMIM, 34MalaCards
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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:48 615278

Aliases & Classifications for Cardiofaciocutaneous Syndrome 2

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48OMIM
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Classifications:



Aliases & Descriptions:

cardiofaciocutaneous syndrome 2 48


Related Diseases for Cardiofaciocutaneous Syndrome 2

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Symptoms for Cardiofaciocutaneous Syndrome 2

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48OMIM
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Clinical features from OMIM:

615278

Drugs & Therapeutics for Cardiofaciocutaneous Syndrome 2

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Cardiofaciocutaneous Syndrome 2

Drug clinical trials:

Search ClinicalTrials for Cardiofaciocutaneous Syndrome 2

Search NIH Clinical Center for Cardiofaciocutaneous Syndrome 2

Search CenterWatch for Cardiofaciocutaneous Syndrome 2

Genetic Tests for Cardiofaciocutaneous Syndrome 2

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Anatomical Context for Cardiofaciocutaneous Syndrome 2

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34MalaCards
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MalaCards organs/tissues related to Cardiofaciocutaneous Syndrome 2:

34
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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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Cardiofaciocutaneous Syndrome 2:

65
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, 16Gene 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
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