Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.900 Biomarker CLINGEN Linkage analysis using a recessive model supported a candidate region in chromosome 22q11, which includes LZTR1, previously shown to harbor mutations in patients with Noonan syndrome inherited in a dominant pattern. 29469822

2018
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.900 Biomarker CLINGEN We identified two novel genes, SOS2 and LZTR1, associated with Noonan syndrome, thereby expanding the molecular spectrum of RASopathies. 25795793

2015
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.900 Biomarker CLINGEN Next-generation sequencing identifies rare variants associated with Noonan syndrome. 25049390

2014