Disease: Noonan Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR "PTPN11 gene mutations: linking the Gln510Glu mutation to the ""LEOPARD syndrome phenotype""." 16733669 2006
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease BEFREE 12 prepubertal children with Noonan syndrome due to mutations in the PTPN11 gene [7 males, 6 females; median age, years: 8.6 (range 5.1-13.4)] were studied; 12 prepubertal children with short stature (SS) [7 males, 5 females; median age, years: 8.1 (range 4.8-13.1)] served as the control group. 23624134 2013
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease BEFREE Noonan syndrome type I with PTPN11 3 bp deletion: structure-function implications. 15521065 2005
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease BEFREE Noonan syndrome (NS) is an autosomal dominant disorder caused by mutations in PTPN11, KRAS, SOS1, and RAF1. 19953625 2010
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease BEFREE Noonan syndrome: Severe phenotype and PTPN11 mutations. 29703613 2019
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease BEFREE Noonan syndrome (NS) is caused by mutations in more than 10 genes, mainly PTPN11, SOS1, RAF1, and RIT1. 31368652 2019
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning. 12529711 2003
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease BEFREE PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning. 12529711 2003
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker disease CLINGEN PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning. 12529711 2003
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease BEFREE SHP-2 is required during development, and germline mutations in PTPN11, the gene encoding SHP-2, cause Noonan syndrome. 14982869 2004
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker disease BEFREE PTPN11, encoding SHP-2, is the first identified gene for Noonan syndrome and also the first identified proto-oncogene that encodes a tyrosine phosphatase. 18758896 2008
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker disease BEFREE PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings. 18759865 2009
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease BEFREE PTPN11 gene mutations were described in several individuals with this phenotype, and it is recently considered as a variant phenotype of NS. 19438935 2009
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease BEFREE PTPN11 mutation associated with aortic dilation and hypertrophic cardiomyopathy in a pediatric patient with Noonan syndrome. 19795160 2010
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker disease BEFREE PTPN11 (39.0%), SOS1 (20.3%), RAF1 (6.8%), KRAS (5.1%), and BRAF (1.7%) mutations were identified in NS; BRAF (41.2%), SHOC2 (23.5%), and MEK1 (5.9%) mutations in cardiofaciocutaneous syndrome; and HRAS and PTPN11 mutations in Costello syndrome and LEOPARD syndrome, respectively. 21784453 2011
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease BEFREE PTPN11 mutations cause LEOPARD syndrome (LS) and Noonan syndrome (NS), two disorders that are part of a newly classified family of autosomal dominant syndromes termed "RASopathies," which are caused by germline mutations in components of the RAS/RAF/MEK/ERK mitogen activating protein kinase pathway. 22681964 2011
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker disease BEFREE Shp2 is a classical non-receptor protein tyrosine phosphatase (PTP) involved in many human diseases such as Noonan syndrome and tumors, and identified as a potential therapeutic target. 27939989 2017
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease BEFREE PTPN11 mutation accounts for 64.7% of cases with clinical features of Noonan syndrome in India. 28607217 2017
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease BEFREE PTPN11 was also the most frequently detected mutation in patients with NS and NSRD. 31837205 2020
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease BEFREE A PTPN11 gene mutation was identified in 104 (38.25%) of 274 patients with Noonan syndrome.Heart defect was present in 85%. 17515436 2007
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease BEFREE A de novo T73I mutation in PTPN11 in a neonate with severe and prolonged congenital thrombocytopenia and Noonan syndrome. 23446178 2013
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker disease CLINGEN A de novo T73I mutation in PTPN11 in a neonate with severe and prolonged congenital thrombocytopenia and Noonan syndrome. 23446178 2013
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR A germline gain-of-function mutation in Ptpn11 (Shp-2) phosphatase induces myeloproliferative disease by aberrant activation of hematopoietic stem cells. 20651068 2010
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker disease CLINGEN A mother and son with Noonan syndrome resulting from a PTPN11 mutation: first report of molecularly proven cases from Turkey. 20718194 2010