MCID: KRS004
MIFTS: 13

Kras-Related Noonan Syndrome malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Cardiovascular diseases, Nephrological diseases, Reproductive diseases, Skin diseases, Endocrine diseases, Fetal diseases, Cancer diseases

Aliases & Classifications for Kras-Related Noonan Syndrome

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Aliases & Descriptions for Kras-Related Noonan Syndrome:

Name: Kras-Related Noonan Syndrome 22
 
Noonan Syndrome 3 22 65

Classifications:



External Ids:

UMLS65 C1860991

Summaries for Kras-Related Noonan Syndrome

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MalaCards based summary: Kras-Related Noonan Syndrome, also known as noonan syndrome 3, is related to noonan syndrome 3. An important gene associated with Kras-Related Noonan Syndrome is KRAS (Kirsten Rat Sarcoma Viral Oncogene Homolog). Affiliated tissues include eye and skin.

Related Diseases for Kras-Related Noonan Syndrome

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Symptoms for Kras-Related Noonan Syndrome

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Drugs & Therapeutics for Kras-Related Noonan Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Kras-Related Noonan Syndrome

Genetic Tests for Kras-Related Noonan Syndrome

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Genetic tests related to Kras-Related Noonan Syndrome:

id Genetic test Affiliating Genes
1 Kras-Related Noonan Syndrome22 KRAS

Anatomical Context for Kras-Related Noonan Syndrome

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MalaCards organs/tissues related to Kras-Related Noonan Syndrome:

33
Eye, Skin

Animal Models for Kras-Related Noonan Syndrome or affiliated genes

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Publications for Kras-Related Noonan Syndrome

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Variations for Kras-Related Noonan Syndrome

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Clinvar genetic disease variations for Kras-Related Noonan Syndrome:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1KRASNM_004985.4(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_004985.4(KRAS): c.173C> T (p.Thr58Ile)single nucleotide variantPathogenicrs104894364GRCh37Chr 12, 25380285: 25380285
4KRASNM_004985.4(KRAS): c.40G> A (p.Val14Ile)single nucleotide variantPathogenicrs104894365GRCh37Chr 12, 25398279: 25398279
5KRASNM_033360.3(KRAS): c.13A> G (p.Lys5Glu)single nucleotide variantPathogenicrs193929331GRCh37Chr 12, 25398306: 25398306
6KRASNM_004985.4(KRAS): c.178G> A (p.Gly60Ser)single nucleotide variantPathogenicrs104894359GRCh37Chr 12, 25380280: 25380280
7KRASNM_004985.4(KRAS): c.179G> T (p.Gly60Val)single nucleotide variantLikely pathogenic, Pathogenicrs727503108GRCh37Chr 12, 25380279: 25380279
8KRASNM_004985.4(KRAS): c.65A> G (p.Gln22Arg)single nucleotide variantLikely pathogenic, Pathogenicrs727503110GRCh37Chr 12, 25398254: 25398254
9KRASNM_004985.4(KRAS): c.101C> T (p.Pro34Leu)single nucleotide variantPathogenicrs104894366GRCh37Chr 12, 25398218: 25398218
10KRASNM_004985.4(KRAS): c.458A> G (p.Asp153Gly)single nucleotide variantLikely pathogenic, Pathogenicrs104894360GRCh37Chr 12, 25362838: 25362838
11KRASNM_004985.4(KRAS): c.466T> G (p.Phe156Val)single nucleotide variantLikely pathogenic, Pathogenicrs397517042GRCh37Chr 12, 25362830: 25362830

Expression for genes affiliated with Kras-Related Noonan Syndrome

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Search GEO for disease gene expression data for Kras-Related Noonan Syndrome.

Pathways for genes affiliated with Kras-Related Noonan Syndrome

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GO Terms for genes affiliated with Kras-Related Noonan Syndrome

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Sources for Kras-Related Noonan Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet