Disease: Noonan Syndrome 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1854469
Disease: Noonan Syndrome 2
Noonan Syndrome 2 		0.620 GeneticVariation disease BEFREE Mutations in LZTR1, already known to be causal in familial schwannomatosis type 2, have been recently involved in a small proportion of patients with autosomal dominant and autosomal recessive Noonan syndrome. 30664951 2020
CUI: C1854469
Disease: Noonan Syndrome 2
Noonan Syndrome 2 		0.620 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: C1854469
Disease: Noonan Syndrome 2
Noonan Syndrome 2 		0.620 GeneticVariation disease UNIPROT Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes. 30368668 2019
CUI: C1854469
Disease: Noonan Syndrome 2
Noonan Syndrome 2 		0.620 CausalMutation disease CLINVAR Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822 2018
CUI: C1854469
Disease: Noonan Syndrome 2
Noonan Syndrome 2 		0.620 GeneticVariation disease BEFREE Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822 2018
CUI: C1854469
Disease: Noonan Syndrome 2
Noonan Syndrome 2 		0.620 GeneticVariation disease UNIPROT Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822 2018
CUI: C1854469
Disease: Noonan Syndrome 2
Noonan Syndrome 2 		0.620 Biomarker disease GENOMICS_ENGLAND Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. 25795793 2015
CUI: C1854469
Disease: Noonan Syndrome 2
Noonan Syndrome 2 		0.620 CausalMutation disease CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868 2015