About: RASopathy

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An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

Family of genetic conditions caused by mutations affecting Ras genes

Attributes	Values
rdf:type	Item
description	Family of genetic conditions caused by mutations affecting Ras genes (en)
exact match	wds:Q1029344-2B9D24FF-EAA9-4391-A866-07345645DFFD wds:Q1029344-B1283AAE-ABC6-40B7-8DB1-5F3B50F86341
exact match	http://purl.obolibrary.org/obo/DOID_0080690 http://identifiers.org/doid/DOID:0080690
Experimental Factor Ontology ID	wds:Q1029344-E080BB8F-0913-4242-953D-8248DF7ED041
Disease Ontology ID	wds:Q1029344-08605113-6172-436C-9F69-1C548F4C3B43
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0080690
Experimental Factor Ontology ID	1001502
Disease Ontology ID	DOID:0080690
rdfs:label	RAS-патия (ru) RASopathie (de) RASopathie (fr) RASopathy (en) RASopátiás betegség (hu) RAS病 (ja) RAS蛋白家族病變 (zh) Rasopatía (es)
skos:prefLabel	RAS-патия (ru) RASopathie (de) RASopathie (fr) RASopathy (en) RASopátiás betegség (hu) RAS病 (ja) RAS蛋白家族病變 (zh) Rasopatía (es)
name	RAS-патия (ru) RASopathie (de) RASopathie (fr) RASopathy (en) RASopátiás betegség (hu) RAS病 (ja) RAS蛋白家族病變 (zh) Rasopatía (es)
instance of	wds:Q1029344-517AD4D8-21B7-4C99-9218-D7C476A9D7AB
instance of	class of disease
subclass of	wds:Q1029344-397A3FC6-4BF5-4911-AD2E-E70606B876B0 wds:Q1029344-c1e59f14-4eae-d39c-9868-c127e32c7b19
subclass of	genetic disease syndrome
Orphanet ID	wds:Q1029344-aa41d23d-4d3c-cd28-db93-e9fac85165e7
Orphanet ID	536391
skos:altLabel	Rasopatia (es) 網狀活化系統病變 (zh)
Microsoft Academic ID	wds:Q1029344-70BAAFA1-ADEA-4647-BEA5-093026C2D8F1
topic's main category	wds:Q1029344-d2f2a3f9-4c40-5d24-c038-796a95a09d85
Microsoft Academic ID	https://makg.org/entity/2778534569
Microsoft Academic ID	2778534569
topic's main category	Category:RASopathies
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q1029344 RASopathy https://de.wikipedia.org/wiki/RASopathie https://ja.wikipedia.org/wiki/RAS%E7%97%85 https://ru.wikipedia.org/wiki/RAS-%D0%BF%D0%B0%D1%82%D0%B8%D1%8F https://es.wikipedia.org/wiki/Rasopat%C3%ADa https://hu.wikipedia.org/wiki/RASop%C3%A1ti%C3%A1s_betegs%C3%A9g
is subclass of of	Costello syndrome cardiofaciocutaneous syndrome LEOPARD syndrome Noonan syndrome-like disorder with loose anagen hair
is subclass of of	wds:Q1136492-FC40E083-8F83-4954-B3EC-B5371F0B9B44 wds:Q55783530-33A5DB69-B124-4EB6-9C14-6B78109AB391 wds:Q1798016-890E7526-361B-49F4-9E85-0D53C50F0EB4 wds:Q1097490-2665FE25-7BB8-4794-81F8-E38C7A6E46F5
is main subject of	Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations. Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis A Novel SHOC2 Variant in Rasopathy A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a multilineage somatic mosaic RASopathy A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1. Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations RASopathy Gene Mutations in Melanoma. ClinGen's RASopathy Expert Panel consensus methods for variant interpretation Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair. Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: a causal relationship? Mechanisms underlying cognitive deficits in a mouse model for Costello Syndrome are distinct from other RASopathy mouse models The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum [Costello syndrome. A rare RASopathy with cutaneous symptoms]. Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort Phacomatosis Pigmentokeratotica: A Mosaic RASopathy with Malignant Potential. Immune markers in the RASopathy neurofibromatosis type 1. Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients Oculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations Juvenile myelomonocytic leukemia - A bona fide RASopathy syndrome Copy number variants including RAS pathway genes-How much RASopathy is in the phenotype? Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum. Clinical and molecular spectra of BRAF-associated RASopathy [Allele-specific inhibitors of mutant KRAS are in the focus of RASopathy consortium] Papular nevus spilus syndrome: old and new aspects of a mosaic RASopathy Localized Hypertrophic Neuropathy as a Neoplastic Manifestation of KRAS-Mediated RASopathy NRAS associated RASopathy and embryonal rhabdomyosarcoma RASopathy diagnosis advances: quick, accurate diagnoses are now commonplace Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules Atypical presentation of pediatric BRAF RASopathy with acute encephalopathy KrasP34R and KrasT58I mutations induce distinct RASopathy phenotypes in mice Childhood Rhabdomyosarcoma in Association With a RASopathy Clinical Phenotype and Mosaic Germline SOS1 Duplication.

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