Disease: NOONAN SYNDROME 10 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225280
Disease: NOONAN SYNDROME 10
NOONAN SYNDROME 10 		0.910 GeneticVariation disease UNIPROT Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling. 30481304 2019
CUI: C4225280
Disease: NOONAN SYNDROME 10
NOONAN SYNDROME 10 		0.910 GeneticVariation disease CLINVAR Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes. 30368668 2019
CUI: C4225280
Disease: NOONAN SYNDROME 10
NOONAN SYNDROME 10 		0.910 GeneticVariation disease UNIPROT Noonan syndrome associated with growth hormone deficiency with biallelic LZTR1 variants. 29959388 2019
CUI: C4225280
Disease: NOONAN SYNDROME 10
NOONAN SYNDROME 10 		0.910 GeneticVariation disease UNIPROT Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes. 30368668 2019
CUI: C4225280
Disease: NOONAN SYNDROME 10
NOONAN SYNDROME 10 		0.910 GeneticVariation disease UNIPROT Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination. 30442762 2018
CUI: C4225280
Disease: NOONAN SYNDROME 10
NOONAN SYNDROME 10 		0.910 Biomarker disease GENOMICS_ENGLAND Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822 2018
CUI: C4225280
Disease: NOONAN SYNDROME 10
NOONAN SYNDROME 10 		0.910 GeneticVariation disease UNIPROT LZTR1 is a regulator of RAS ubiquitination and signaling. 30442766 2018
CUI: C4225280
Disease: NOONAN SYNDROME 10
NOONAN SYNDROME 10 		0.910 Biomarker disease MGD Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination. 30442762 2018
CUI: C4225280
Disease: NOONAN SYNDROME 10
NOONAN SYNDROME 10 		0.910 Biomarker disease BEFREE Two potential fungal strains, namely, Penicillium oxalicum NS4 (KU559906) and Penicillium chrysogenum NS10 (KU559907) had been isolated and identified to have plastic degrading abilities. 28051105 2017
CUI: C4225280
Disease: NOONAN SYNDROME 10
NOONAN SYNDROME 10 		0.910 GeneticVariation disease UNIPROT Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. 25795793 2015
CUI: C4225280
Disease: NOONAN SYNDROME 10
NOONAN SYNDROME 10 		0.910 GeneticVariation disease CLINVAR Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. 25795793 2015
CUI: C4225280
Disease: NOONAN SYNDROME 10
NOONAN SYNDROME 10 		0.910 Biomarker disease GENOMICS_ENGLAND Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. 25795793 2015
CUI: C4225280
Disease: NOONAN SYNDROME 10
NOONAN SYNDROME 10 		0.910 GeneticVariation disease CLINVAR The BTB-kelch protein LZTR-1 is a novel Golgi protein that is degraded upon induction of apoptosis. 16356934 2006
CUI: C4225280
Disease: NOONAN SYNDROME 10
NOONAN SYNDROME 10 		0.910 Biomarker disease GENOMICS_ENGLAND
CUI: C4225280
Disease: NOONAN SYNDROME 10
NOONAN SYNDROME 10 		0.910 CausalMutation disease CLINVAR
CUI: C4225280
Disease: NOONAN SYNDROME 10
NOONAN SYNDROME 10 		0.910 Biomarker disease CTD_human