Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4023676
Disease: Increased nuchal translucency
Increased nuchal translucency
0.300 Biomarker phenotype GENOMICS_ENGLAND Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822 2018
CUI: C4023676
Disease: Increased nuchal translucency
Increased nuchal translucency
0.300 Biomarker phenotype GENOMICS_ENGLAND Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. 25795793 2015