Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | acute myeloid leukemia | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12161469 more ... | arrhythmogenic right ventricular cardiomyopathy | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar | PMID:25741868 and PMID:28492532 | atrial heart septal defect 1 | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: ASD II | ClinVar | PMID:11992261 more ... | autism spectrum disorder | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar | PMID:25741868 | B-Cell Chronic Lymphocytic Leukemia | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12161469 more ... | Brain Neoplasms | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12161469 more ... | Cafe-au-Lait Spots | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cafe-au-lait spot | ClinVar | PMID:11992261 more ... | cancer | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cancer | ClinVar | PMID:11704759 more ... | cardiofaciocutaneous syndrome | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: CFC syndrome | ClinVar | PMID:25741868 and PMID:28492532 | cardiomyopathy | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cardiomyopathies | ClinVar | PMID:18759865 more ... | Cardiovascular Abnormalities | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology | ClinVar | PMID:11704759 more ... | chronic lymphocytic leukemia | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chronic lymphatic leukemia | ClinVar | PMID:12717436 more ... | Colorectal Neoplasms | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Colorectal Neoplasms | ClinVar | PMID:11704759 more ... | craniosynostosis | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Brachycephaly | ClinVar | PMID:11992261 more ... | Developmental Disabilities | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:11992261 more ... | dilated cardiomyopathy | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar | PMID:18759865 more ... | Dwarfism | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Short stature | ClinVar | PMID:11704759 more ... | embryonal rhabdomyosarcoma | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma | ClinVar | PMID:26619011 and PMID:26822237 | Failure to Thrive | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Failure to thrive | ClinVar | PMID:11992261 more ... | Funnel Chest | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pectus excavatum | ClinVar | PMID:11992261 more ... | gastric adenocarcinoma | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar | PMID:26619011 and PMID:26822237 | genetic disease | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:11704759 more ... | hemorrhagic disease | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormal bleeding | ClinVar | PMID:11704759 more ... | Hereditary Neoplastic Syndromes | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar | PMID:11704759 more ... | Hereditary Neoplastic Syndromes | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:11704759 more ... | Hereditary Neoplastic Syndromes | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar | PMID:11704759 more ... | hereditary spastic paraplegia | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar | PMID:11992261 more ... | high grade glioma | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Astrocytoma | ClinVar | PMID:11704759 more ... | high grade glioma | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11704759 more ... | Hydrops Fetalis | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Fetal edema | ClinVar | PMID:11704759 more ... | hypertrophic cardiomyopathy | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar | PMID:11992261 more ... | intellectual disability | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:15121796 more ... | intellectual disability | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11992261 more ... | juvenile myelomonocytic leukemia | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia | ClinVar | PMID:11704759 more ... | juvenile myelomonocytic leukemia | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia | ClinVar | PMID:27659786 more ... | learning disability | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Specific learning disability | ClinVar | PMID:11992261 more ... | lung adenocarcinoma | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lung adenocarcinoma | ClinVar | PMID:26619011 and PMID:26822237 | lung squamous cell carcinoma | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Squamous cell lung carcinoma | ClinVar | PMID:11704759 more ... | lymphoma | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lymphoma | ClinVar | PMID:11704759 more ... | metachondromatosis | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Metachondromatosis | ClinVar | PMID:28681392 more ... | metachondromatosis | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Metachondromatosis | ClinVar | PMID:11704759 more ... | microcephaly | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:11704759 more ... | multiple myeloma | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myelomatosis | ClinVar | PMID:11704759 more ... | myeloid leukemia associated with Down Syndrome | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome | ClinVar | PMID:15384080 more ... | neuroblastoma | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neuroblastoma | ClinVar | PMID:11704759 more ... | Neurodevelopmental Disorders | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11704759 more ... | neurofibroma | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurofibroma | ClinVar | PMID:17052965 more ... | neurofibromatosis-Noonan syndrome | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome | ClinVar | PMID:22465605 more ... | Noonan syndrome | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10594032 more ... | Noonan syndrome | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:2564168 more ... | Noonan syndrome 1 | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Noonan syndrome 1 | ClinVar | PMID:11704759 more ... | Noonan syndrome 1 | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Noonan syndrome 1 | ClinVar | PMID:25708222 more ... | Noonan syndrome 3 | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Noonan syndrome 3 | ClinVar | PMID:11704759 more ... | Noonan syndrome with multiple lentigines | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:26785492 more ... | Noonan syndrome with multiple lentigines | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11704759 more ... | Noonan syndrome with multiple lentigines 1 | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: LEOPARD syndrome 1 | ClinVar | PMID:26785492 more ... | Noonan syndrome with multiple lentigines 1 | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: LEOPARD syndrome 1 | ClinVar | PMID:11704759 more ... | Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | ClinVar | PMID:11992261 more ... | Paraproteinemias | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Plasma cell dyscrasia | ClinVar | PMID:11704759 more ... | patent ductus arteriosus | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Patency of the ductus arteriosus | ClinVar | PMID:11992261 more ... | patent foramen ovale | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Atrial septal defect and ostium secundum type | ClinVar | PMID:11992261 more ... | plasma cell neoplasm | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Plasma cell dyscrasia | ClinVar | PMID:11704759 more ... | ptosis | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ptosis | ClinVar | PMID:11992261 more ... | RASopathy | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:24896146 more ... | RASopathy | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:24891296 more ... | RASopathy | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10594032 more ... | RASopathy | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:24931631 more ... | RASopathy | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10594032 more ... | RASopathy | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10594032 more ... | RASopathy | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: RASopathy | ClinVar | PMID:25500235 more ... | RASopathy | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: RASopathy | ClinVar | PMID:10594032 more ... | RASopathy | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: RASopathy | ClinVar | PMID:10594032 more ... | RASopathy | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: RASopathy | ClinVar | PMID:25585602 more ... | RASopathy | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25595571 more ... | RASopathy | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10594032 more ... | RASopathy | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25533962 more ... | RASopathy | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: RASopathy | ClinVar | PMID:24820750 more ... | RASopathy | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10594032 more ... | Right Ventricular Hypertrophy | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Right ventricular hypertrophy | ClinVar | PMID:11992261 more ... | scoliosis | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Scoliosis | ClinVar | PMID:11992261 more ... | strabismus | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Strabismus | ClinVar | PMID:15985475 more ... | T-cell acute lymphoblastic leukemia | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia | ClinVar | PMID:11992261 more ... | thrombocytopenia | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Thrombocytopenia | ClinVar | PMID:11704759 more ... | tricuspid valve insufficiency | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: tricuspid valve insufficiency | ClinVar | PMID:11992261 more ... | Ventricular Premature Complexes | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Premature ventricular contraction | ClinVar | PMID:23334666 more ... | Ventricular Tachycardia | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ventricular tachycardia | ClinVar | PMID:25741868 | Werner syndrome | | ISO | PTPN11 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Werner syndrome | ClinVar | PMID:25741868 | |