rs1419388177, LZTR1

N. diseases: 1
Disease: SCHWANNOMATOSIS 2 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
SCHWANNOMATOSIS 2
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
0.700 GeneticVariation UNIPROT Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling. 30481304 2019
SCHWANNOMATOSIS 2
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
0.700 GeneticVariation UNIPROT LZTR1 is a regulator of RAS ubiquitination and signaling. 30442766 2018
SCHWANNOMATOSIS 2
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
0.700 GeneticVariation UNIPROT Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination. 30442762 2018
SCHWANNOMATOSIS 2
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
0.700 GeneticVariation UNIPROT Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis. 25480913 2015
SCHWANNOMATOSIS 2
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
0.700 GeneticVariation UNIPROT Expanding the mutational spectrum of LZTR1 in schwannomatosis. 25335493 2015
SCHWANNOMATOSIS 2
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
0.700 GeneticVariation UNIPROT Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas. 24362817 2014