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
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.300 Biomarker CLINGEN

Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.300 Biomarker CLINGEN

Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.300 Biomarker CLINGEN

Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		0.300 Biomarker CLINGEN

Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		0.300 Biomarker CLINGEN