Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225282
Disease: NOONAN SYNDROME 9
NOONAN SYNDROME 9 		0.700 GeneticVariation disease CLINVAR Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. 25795793 2015
CUI: C4225282
Disease: NOONAN SYNDROME 9
NOONAN SYNDROME 9 		0.700 Biomarker disease GENOMICS_ENGLAND Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. 26173643 2015
CUI: C4225282
Disease: NOONAN SYNDROME 9
NOONAN SYNDROME 9 		0.700 GeneticVariation disease CLINVAR Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. 26173643 2015
CUI: C4225282
Disease: NOONAN SYNDROME 9
NOONAN SYNDROME 9 		0.700 GeneticVariation disease UNIPROT Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. 25795793 2015
CUI: C4225282
Disease: NOONAN SYNDROME 9
NOONAN SYNDROME 9 		0.700 Biomarker disease GENOMICS_ENGLAND Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. 25795793 2015
CUI: C4225282
Disease: NOONAN SYNDROME 9
NOONAN SYNDROME 9 		0.700 Biomarker disease CTD_human
CUI: C4225282
Disease: NOONAN SYNDROME 9
NOONAN SYNDROME 9 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4225282
Disease: NOONAN SYNDROME 9
NOONAN SYNDROME 9 		0.700 CausalMutation disease CLINVAR
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.620 GeneticVariation disease BEFREE We identified two novel genes, SOS2 and LZTR1, associated with Noonan syndrome, thereby expanding the molecular spectrum of RASopathies. 25795793 2015
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.620 GeneticVariation disease BEFREE Similar to NS-causing SOS1 mutations, the phenotype associated with SOS2 defects is characterized by normal development and growth, as well as marked ectodermal involvement. 26173643 2015
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.620 Biomarker disease CLINGEN We identified two novel genes, SOS2 and LZTR1, associated with Noonan syndrome, thereby expanding the molecular spectrum of RASopathies. 25795793 2015
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.620 GermlineCausalMutation disease ORPHANET We identified two novel genes, SOS2 and LZTR1, associated with Noonan syndrome, thereby expanding the molecular spectrum of RASopathies. 25795793 2015
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.620 Biomarker disease CLINGEN Similar to NS-causing SOS1 mutations, the phenotype associated with SOS2 defects is characterized by normal development and growth, as well as marked ectodermal involvement. 26173643 2015
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.620 Biomarker disease CLINGEN The RASopathies. 23875798 2013
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.620 Biomarker disease CLINGEN Ras-guanine nucleotide exchange factor sos2 is dispensable for mouse growth and development. 10938118 2000
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.620 Biomarker disease GENOMICS_ENGLAND Ras-guanine nucleotide exchange factor sos2 is dispensable for mouse growth and development. 10938118 2000
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.300 Biomarker disease CLINGEN
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.300 Biomarker disease CLINGEN
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.300 Biomarker disease CLINGEN
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		0.300 Biomarker disease CLINGEN
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		0.300 Biomarker disease CLINGEN
CUI: C0005612
Disease: Birth Weight
Birth Weight 		0.100 GeneticVariation phenotype GWASCAT Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. 31043758 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.100 GeneticVariation group GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019