Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs776005012
rs776005012
LZTR1
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
dbSNP: rs776005012
rs776005012
LZTR1
0.700 GeneticVariation UNIPROT LZTR1 is a regulator of RAS ubiquitination and signaling. 30442766

2018
dbSNP: rs776005012
rs776005012
LZTR1
0.700 GeneticVariation UNIPROT Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination. 30442762

2018
dbSNP: rs776005012
rs776005012
LZTR1
0.700 GeneticVariation UNIPROT Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis. 25480913

2015
dbSNP: rs776005012
rs776005012
LZTR1
0.700 GeneticVariation UNIPROT Expanding the mutational spectrum of LZTR1 in schwannomatosis. 25335493

2015
dbSNP: rs776005012
rs776005012
LZTR1
0.700 GeneticVariation UNIPROT Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas. 24362817

2014