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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | acute monocytic leukemia | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Acute monocytic leukemia | ClinVar | PMID:25741868 more ... | Aortic Coarctation | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Midaortic syndrome | ClinVar | PMID:10712197 more ... | autism spectrum disorder | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar | PMID:28492532 and PMID:30763456 | B-cell acute lymphoblastic leukemia | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: B Acute Lymphoblastic Leukemia | ClinVar | PMID:17576681 more ... | Cafe au lait Spots, Multiple | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cafe au lait spots and multiple | ClinVar | PMID:10543400 more ... | Cafe-au-Lait Spots | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cafe-au-lait spot | ClinVar | PMID:10607834 more ... | centronuclear myopathy 5 | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myopathy more ... | ClinVar | PMID:10862084 more ... | cerebral palsy | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cerebral palsy | ClinVar | PMID:25741868 | craniopharyngioma | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Craniopharyngioma | ClinVar | PMID:25741868 and PMID:28492532 | Developmental Disabilities | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:22241097 | diffuse intrinsic pontine glioma | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma | ClinVar | PMID:25741868 and PMID:28492532 | diffuse large B-cell lymphoma | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diffuse large B cell lymphoma | ClinVar | PMID:21390130 more ... | diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma and H3-wildtype and IDH-wildtype | ClinVar | PMID:25741868 more ... | Ewing sarcoma | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ewing sarcoma | ClinVar | PMID:10494088 more ... | Febrile Seizures | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Febrile seizures | ClinVar | PMID:21520333 more ... | ganglioglioma | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ganglioglioma | ClinVar | PMID:10712197 more ... | genetic disease | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10607834 more ... | hereditary breast ovarian cancer syndrome | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar | PMID:10336779 more ... | hereditary breast ovarian cancer syndrome | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10336779 more ... | hereditary breast ovarian cancer syndrome | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10336779 more ... | hereditary breast ovarian cancer syndrome | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar | PMID:10336779 more ... | hereditary breast ovarian cancer syndrome | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10336779 more ... | hereditary breast ovarian cancer syndrome | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10336779 more ... | Hereditary Neoplastic Syndromes | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:28706617 more ... | Hereditary Neoplastic Syndromes | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10076878 more ... | Hereditary Neoplastic Syndromes | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:28518168 more ... | Hereditary Neoplastic Syndromes | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10076878 more ... | Hereditary Neoplastic Syndromes | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:28976792 more ... | Hereditary Neoplastic Syndromes | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10076878 more ... | Hereditary Neoplastic Syndromes | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10076878 more ... | Hereditary Neoplastic Syndromes | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:29146900 more ... | Hereditary Neoplastic Syndromes | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10076878 more ... | Hereditary Neoplastic Syndromes | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:29489754 more ... | Hereditary Neoplastic Syndromes | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10076878 more ... | Hereditary Neoplastic Syndromes | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:32860008 more ... | Hereditary Neoplastic Syndromes | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10076878 more ... | Hereditary Neoplastic Syndromes | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:32581362 more ... | Hereditary Neoplastic Syndromes | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10076878 more ... | Hereditary Neoplastic Syndromes | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:28529006 more ... | inguinal hernia | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inguinal hernia | ClinVar | PMID:10712197 more ... | intellectual disability | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12807981 more ... | intellectual disability | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12807981 more ... | juvenile myelomonocytic leukemia | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia | ClinVar | PMID:10336779 more ... | keratoconus | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Keratoconus | ClinVar | | microcephaly | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:25741868 more ... | multiple myeloma | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Multiple myeloma | ClinVar | | myeloproliferative neoplasm | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myeloproliferative neoplasm and unclassifiable | ClinVar | PMID:28492532 and PMID:35101336 | neurofibroma | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurofibroma | ClinVar | PMID:10712197 more ... | neurofibroma of spinal cord | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spinal neurofibroma | ClinVar | | neurofibromatosis | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10678181 more ... | neurofibromatosis 1 | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurofibromatosis and type 1 | ClinVar | PMID:9643287 more ... | neurofibromatosis 1 | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurofibromatosis and type 1 | ClinVar | PMID:26056819 more ... | neurofibromatosis 1 | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurofibromatosis and type 1 | ClinVar | PMID:10076878 more ... | neurofibromatosis-Noonan syndrome | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10090487 more ... | optic nerve glioma | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Optic nerve glioma | ClinVar | PMID:10712197 more ... | ovarian cancer | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ovarian cancer | ClinVar | PMID:25741868 more ... | pheochromocytoma | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pheochromocytoma | ClinVar | PMID:11857752 more ... | pilocytic astrocytoma | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pilocytic astrocytoma | ClinVar | PMID:25741868 | RASopathy | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: RASopathy | ClinVar | PMID:10712197 more ... | retinoblastoma | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Retinoblastoma | ClinVar | PMID:25741868 and PMID:28492532 | rhabdomyosarcoma | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rhabdomyosarcoma | ClinVar | PMID:10090487 more ... | spinal neurofibromatosis | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurofibromatosis and familial spinal | ClinVar | PMID:10076878 more ... | stomach cancer | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Gastric cancer | ClinVar | PMID:10494088 more ... | strabismus | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Strabismus | ClinVar | PMID:21520333 more ... | urinary bladder cancer | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Malignant tumor of urinary bladder | ClinVar | PMID:10090487 more ... | Urinary Bladder Neoplasm | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Urinary Bladder Neoplasms | ClinVar | PMID:10712197 more ... | Watson syndrome | | ISO | NF1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pulmonic stenosis with cafe-au-lait spots | ClinVar | PMID:10090487 more ... | |