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 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 We present the autopsy findings from a Noonan syndrome patient who died as a result of an unusual form of right ventricular obstruction associated with a rare PTPN11 variant previously reported without details of the cardiac findings. 30665336 2020
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
1.000 GeneticVariation disease BEFREE Activating mutations of SHP2 have been reported as a cause of various human diseases such as solid tumors, leukemia, and Noonan syndrome. 31784318 2020
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
1.000 GeneticVariation disease BEFREE PTPN11 mutation with additional alterations showed significantly the poorest outcome in comparison with those with only one non-PTPN11 mutation, only one PTPN11 mutation, and combined mutations without PTPN11, respectively (P < 0.0001).Conclusion: Both PTPN11 mutation and the number of somatic alterations detected at diagnosis are likely to be the major determinant of outcome in JMML. 31807902 2020
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
1.000 GeneticVariation disease BEFREE The cutaneous phenotype of NS with a PTPN11 mutation is generally mild and nonspecific, whereas the absence of a PTPN11 mutation is associated with a high frequency of keratinization disorders and hair abnormalities. 30417923 2019
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
1.000 Biomarker disease BEFREE Here, imaging and cognitive data were collected from 12 children with PTPN11-related NS, ages 4.0-11.0 years (8.98 ± 2.33) and 12 age- and sex-matched typically developing controls (8.79 ± 2.17). 30059958 2019
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
1.000 GeneticVariation disease BEFREE Gene-related Chinese NS facial features were described using artificial intelligence (AI).NGS identified pathogenic variants in 103 Chinese patients in eight NS-related genes: PTPN11 (48.5%), SOS1 (12.6%), SHOC2 (11.7%), KRAS (9.71%), RAF1 (7.77%), RIT1 (6.8%), CBL (0.97%), NRAS (0.97%), and LZTR1 (0.97%). 31219622 2019
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
1.000 Biomarker disease BEFREE We report two cases of anaplastic astrocytoma with PTPN11-related NS. 30693642 2019
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
1.000 GeneticVariation disease BEFREE Germline mutations in <i>PTPN11</i> gene responsible for catalytic gain- or loss- of function of SHP2 cause two disorders with multiple organ defects, respectively Noonan syndrome (NS) and NS with Multiple Lentigines (NSML). 31562133 2019
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
1.000 GeneticVariation disease BEFREE Different mechanisms of disease have been demonstrated to be associated with the two classes of PTPN11 mutations underlying Noonan syndrome and Noonan syndrome with multiple lentigines (also known as LEOPARD syndrome). 31277675 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 Biomarker disease BEFREE Here, we found that expressing the NS-associated mutant SHP2<sup>D61G</sup> in excitatory, but not inhibitory, hippocampal neurons increased ERK signaling and impaired both long-term potentiation (LTP) and spatial memory in mice, although endogenous SHP2 was expressed in both neuronal types. 30837304 2019
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
1.000 GeneticVariation disease BEFREE Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome. 31132774 2019
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
1.000 GeneticVariation disease BEFREE One of the most common protein tyrosine phosphatase-2 (SHP2) mutations in Noonan syndrome is the N308D mutation, and it increases the activity of the protein. 30304563 2019
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
1.000 GeneticVariation disease BEFREE A total of 48 clinically diagnosed NS were included, and responsible mutations were identified in 39 patients (81.3%) with PTPN11 mutations being the most prevalent followed by SOS1 mutations. 31292302 2019
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
1.000 GeneticVariation disease BEFREE Noonan syndrome: Severe phenotype and PTPN11 mutations. 29703613 2019
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
1.000 GeneticVariation disease BEFREE Studies have shown that NSML-associated Y279C mutation exhibited the reduced phosphatase activity, leading to loss-of-function (LOF) of SHP2. 31258001 2019
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
1.000 GeneticVariation disease BEFREE Mutations in the PTPN11 gene, which encodes the protein tyrosine phosphatase Shp2, cause Noonan syndrome and LEOPARD syndrome, inherited multifaceted diseases including cardiac and vascular defects. 31634485 2019
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
1.000 GeneticVariation disease BEFREE Although PTPN11 mutation showed initially positive regulation on phosphoinositide 3-kinase, overall the mTOR complex 1 pathway showed widely attenuated activity in LS. 31722741 2019
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
1.000 GeneticVariation disease BEFREE A human induced pluripotent stem cell (iPSC) line was generated using peripheral blood mononuclear cells (PBMCs) from a patient with NSML that carries a gene mutation of p.Q510P on the PTPN11 gene using non-integrating Sendai virus technique. 30640061 2019
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
1.000 GeneticVariation disease BEFREE Different mechanisms of disease have been demonstrated to be associated with the two classes of PTPN11 mutations underlying Noonan syndrome and Noonan syndrome with multiple lentigines (also known as LEOPARD syndrome). 31277675 2019
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
1.000 GeneticVariation disease BEFREE Transduction of the PTPN11 mutation into JMML iPSCs with the wild-type of both genes increased CD34<sup>+</sup> cell production to a level comparable to that obtained with JMML iPSC colonies harbouring the two genetic mutations. 31222725 2019
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
1.000 GeneticVariation disease BEFREE We used patient-derived induced pluripotent stem cells (iPSCs) to characterize the signaling profiles and potential therapeutic vulnerabilities of PTPN11-mutant and CBL-mutant JMML. 29884903 2019
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
1.000 GeneticVariation disease BEFREE The SHP2 is encoded by the PTPN11 gene, which is a nonreceptor (pY)-phosphatase and mutation causes JMML. 31244092 2019
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
1.000 Biomarker disease BEFREE At least one protein phosphatase, PTPN11, has emerged as a critical driver of this process in juvenile myelomonocytic leukemia. 30026077 2019