MCID: KRS004
MIFTS: 8

Kras-Related Noonan Syndrome malady

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

Aliases & Classifications for Kras-Related Noonan Syndrome

Aliases & Descriptions for Kras-Related Noonan Syndrome:

Name: Kras-Related Noonan Syndrome 24
Noonan Syndrome 3 24 69

Classifications:



Summaries for Kras-Related Noonan Syndrome

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 (KRAS Proto-Oncogene, GTPase).

Related Diseases for Kras-Related Noonan Syndrome

Symptoms & Phenotypes for Kras-Related Noonan Syndrome

Drugs & Therapeutics for Kras-Related Noonan Syndrome

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

Genetic Tests for Kras-Related Noonan Syndrome

Genetic tests related to Kras-Related Noonan Syndrome:

id Genetic test Affiliating Genes
1 Kras-Related Noonan Syndrome 24 KRAS

Anatomical Context for Kras-Related Noonan Syndrome

Publications for Kras-Related Noonan Syndrome

Variations for Kras-Related Noonan Syndrome

ClinVar genetic disease variations for Kras-Related Noonan Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 KRAS NM_004985.4(KRAS): c.458A> T (p.Asp153Val) single nucleotide variant Pathogenic rs104894360 GRCh37 Chromosome 12, 25362838: 25362838
2 KRAS NM_004985.4(KRAS): c.173C> T (p.Thr58Ile) single nucleotide variant Pathogenic rs104894364 GRCh37 Chromosome 12, 25380285: 25380285
3 KRAS NM_004985.4(KRAS): c.40G> A (p.Val14Ile) single nucleotide variant Pathogenic rs104894365 GRCh37 Chromosome 12, 25398279: 25398279
4 KRAS NM_004985.4(KRAS): c.455T> G (p.Val152Gly) single nucleotide variant Pathogenic rs104894367 GRCh37 Chromosome 12, 25362841: 25362841
5 KRAS NM_033360.3(KRAS): c.13A> G (p.Lys5Glu) single nucleotide variant Pathogenic/Likely pathogenic rs193929331 GRCh37 Chromosome 12, 25398306: 25398306
6 KRAS NM_004985.4(KRAS): c.178G> A (p.Gly60Ser) single nucleotide variant Pathogenic rs104894359 GRCh37 Chromosome 12, 25380280: 25380280

Expression for Kras-Related Noonan Syndrome

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

Pathways for Kras-Related Noonan Syndrome

GO Terms for Kras-Related Noonan Syndrome

Sources for Kras-Related Noonan Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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