Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1223430276
rs1223430276
LZTR1
0.800 GeneticVariation UNIPROT Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes. 30368668

2019
dbSNP: rs1223430276
rs1223430276
LZTR1
A 0.800 GeneticVariation CLINVAR Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes. 30368668

2019
dbSNP: rs1223430276
rs1223430276
LZTR1
0.800 GeneticVariation UNIPROT Noonan syndrome associated with growth hormone deficiency with biallelic LZTR1 variants. 29959388

2019
dbSNP: rs1223430276
rs1223430276
LZTR1
0.800 GeneticVariation UNIPROT Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling. 30481304

2019
dbSNP: rs1223430276
rs1223430276
LZTR1
0.800 GeneticVariation UNIPROT LZTR1 is a regulator of RAS ubiquitination and signaling. 30442766

2018
dbSNP: rs1223430276
rs1223430276
LZTR1
0.800 GeneticVariation UNIPROT Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination. 30442762

2018
dbSNP: rs1223430276
rs1223430276
LZTR1
0.800 GeneticVariation UNIPROT Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. 25795793

2015
dbSNP: rs1223430276
rs1223430276
LZTR1
A 0.800 GeneticVariation CLINVAR Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. 25795793

2015
dbSNP: rs1223430276
rs1223430276
LZTR1
A 0.800 GeneticVariation CLINVAR The BTB-kelch protein LZTR-1 is a novel Golgi protein that is degraded upon induction of apoptosis. 16356934

2006