Disease: SCHWANNOMATOSIS 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2 		0.600 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: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2 		0.600 GeneticVariation disease UNIPROT LZTR1 is a regulator of RAS ubiquitination and signaling. 30442766 2018
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2 		0.600 Biomarker disease GENOMICS_ENGLAND Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822 2018
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2 		0.600 GeneticVariation disease UNIPROT Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination. 30442762 2018
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2 		0.600 GeneticVariation disease UNIPROT Expanding the mutational spectrum of LZTR1 in schwannomatosis. 25335493 2015
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2 		0.600 Biomarker disease GENOMICS_ENGLAND Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. 25795793 2015
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2 		0.600 GeneticVariation disease UNIPROT Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis. 25480913 2015
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2 		0.600 Biomarker disease GENOMICS_ENGLAND Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas. 24362817 2014
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2 		0.600 GeneticVariation disease UNIPROT Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas. 24362817 2014
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2 		0.600 GeneticVariation disease CLINVAR
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2 		0.600 CausalMutation disease CLINVAR