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