NF1, neurofibromin 1, 4763

N. diseases: 77; N. variants: 931
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035320
Disease: Retinal Neovascularization
Retinal Neovascularization 		0.300 Biomarker phenotype CTD_human Given the retinal vascular phenotype observed in persons with NF1, we hypothesize that preserving neurofibromin may be a novel strategy to control pathologic retinal neovascularization. 29847659 2018
CUI: C0026998
Disease: Acute Myeloid Leukemia, M1
Acute Myeloid Leukemia, M1 		0.300 Biomarker disease CTD_human Cooperative loss of RAS feedback regulation drives myeloid leukemogenesis. 25822087 2015
CUI: C1879321
Disease: Acute Myeloid Leukemia (AML-M2)
Acute Myeloid Leukemia (AML-M2) 		0.300 Biomarker disease CTD_human Cooperative loss of RAS feedback regulation drives myeloid leukemogenesis. 25822087 2015
CUI: C0001430
Disease: Adenoma
Adenoma 		0.300 Biomarker group CTD_human PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies. 25119042 2014
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		0.300 Biomarker disease CTD_human PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies. 25119042 2014
CUI: C0205646
Disease: Adenoma, Basal Cell
Adenoma, Basal Cell 		0.300 Biomarker disease CTD_human PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies. 25119042 2014
CUI: C0205647
Disease: Follicular adenoma
Follicular adenoma 		0.300 Biomarker disease CTD_human PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies. 25119042 2014
CUI: C0205648
Disease: Adenoma, Microcystic
Adenoma, Microcystic 		0.300 Biomarker disease CTD_human PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies. 25119042 2014
CUI: C0205649
Disease: Adenoma, Monomorphic
Adenoma, Monomorphic 		0.300 Biomarker disease CTD_human PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies. 25119042 2014
CUI: C0205650
Disease: Papillary adenoma
Papillary adenoma 		0.300 Biomarker disease CTD_human PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies. 25119042 2014
CUI: C0205651
Disease: Adenoma, Trabecular
Adenoma, Trabecular 		0.300 Biomarker disease CTD_human PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies. 25119042 2014
CUI: C0259783
Disease: mixed gliomas
mixed gliomas 		0.300 Biomarker disease CTD_human PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies. 25119042 2014
CUI: C0334588
Disease: Giant Cell Glioblastoma
Giant Cell Glioblastoma 		0.300 Biomarker disease CTD_human PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies. 25119042 2014
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma 		0.300 Biomarker disease CTD_human PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies. 25119042 2014
CUI: C0751374
Disease: Schwannomatosis, Plexiform
Schwannomatosis, Plexiform 		0.300 Biomarker disease CTD_human PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies. 25119042 2014
CUI: C0751691
Disease: Perineurioma
Perineurioma 		0.300 Biomarker disease CTD_human PRC2 is recurrently inactivated through EED or SUZ12 loss in malignant peripheral nerve sheath tumors. 25240281 2014
CUI: C0205768
Disease: Subependymal Giant Cell Astrocytoma
Subependymal Giant Cell Astrocytoma 		0.300 Biomarker disease CTD_human Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma. 23817572 2013
CUI: C0280783
Disease: Juvenile Pilocytic Astrocytoma
Juvenile Pilocytic Astrocytoma 		0.300 Biomarker disease CTD_human Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma. 23817572 2013
CUI: C0280785
Disease: Diffuse Astrocytoma
Diffuse Astrocytoma 		0.300 Biomarker disease CTD_human Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma. 23817572 2013
CUI: C0334579
Disease: Anaplastic astrocytoma
Anaplastic astrocytoma 		0.300 Biomarker disease CTD_human Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma. 23817572 2013
CUI: C0334580
Disease: Protoplasmic astrocytoma
Protoplasmic astrocytoma 		0.300 Biomarker disease CTD_human Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma. 23817572 2013
CUI: C0334581
Disease: Gemistocytic astrocytoma
Gemistocytic astrocytoma 		0.300 Biomarker disease CTD_human Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma. 23817572 2013
CUI: C0334582
Disease: Fibrillary Astrocytoma
Fibrillary Astrocytoma 		0.300 Biomarker disease CTD_human Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma. 23817572 2013
CUI: C0338070
Disease: Childhood Cerebral Astrocytoma
Childhood Cerebral Astrocytoma 		0.300 Biomarker disease CTD_human Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma. 23817572 2013
CUI: C0547065
Disease: Mixed oligoastrocytoma
Mixed oligoastrocytoma 		0.300 Biomarker disease CTD_human Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma. 23817572 2013