NF1, neurofibromin 1, 4763

N. diseases: 77; N. variants: 931
Source: CURATED ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0205768
Disease: Subependymal Giant Cell Astrocytoma
Subependymal Giant Cell Astrocytoma 		disease Neoplasms Neoplastic Process 25 0.300 None 1.000 2 2010 2013
CUI: C0751374
Disease: Schwannomatosis, Plexiform
Schwannomatosis, Plexiform 		disease Neoplasms Neoplastic Process 5 0.300 None 1.000 1 2014 2014
CUI: C0205945
Disease: Sarcoma, Spindle Cell
Sarcoma, Spindle Cell 		disease Neoplasms Neoplastic Process 14 1 0.300 None 1.000 1 2010 2010
CUI: C0205944
Disease: Sarcoma, Epithelioid
Sarcoma, Epithelioid 		disease Neoplasms Neoplastic Process 14 0.300 None 1.000 1 2010 2010
CUI: C1261473
Disease: Sarcoma
Sarcoma 		group Neoplasms Neoplastic Process 21 6 0.320 None 1.000 1 2010 2014
CUI: C0035320
Disease: Retinal Neovascularization
Retinal Neovascularization 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Pathologic Function 3 0.300 None 1.000 1 2018 2018
CUI: C0334580
Disease: Protoplasmic astrocytoma
Protoplasmic astrocytoma 		disease Neoplasms Neoplastic Process 26 0.300 None 1.000 2 2010 2013
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 139 0.300 None 1.000 1 2011 2011
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma 		disease Neoplasms Neoplastic Process 25 4 0.470 None 1.000 2 1 1996 2014
CUI: C1257877
Disease: Pheochromocytoma, Extra-Adrenal
Pheochromocytoma, Extra-Adrenal 		disease Neoplasms Neoplastic Process 16 0.300 None 1.000 1 2000 2000
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		disease Neoplasms Neoplastic Process 19 149 0.400 None 1.000 1 1994 2018
CUI: C0751689
Disease: Peripheral Nerve Sheath Neoplasm
Peripheral Nerve Sheath Neoplasm 		disease Neoplasms; Nervous System Diseases Neoplastic Process 5 0.310 None 1.000 2 2007 2014
CUI: C0751691
Disease: Perineurioma
Perineurioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 5 0.300 None 1.000 2 2010 2014
CUI: C0205650
Disease: Papillary adenoma
Papillary adenoma 		disease Neoplasms Neoplastic Process 36 0.300 None 1.000 1 2014 2014
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 24 153 0.350 strong 1.000 1 1993 2013
CUI: C3150928
Disease: NF1 Microdeletion Syndrome
NF1 Microdeletion Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 2 0.330 None 1.000 1 2005 2019
CUI: C2931482
Disease: Neurofibromatosis-Noonan syndrome
Neurofibromatosis-Noonan syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 2 25 0.780 strong 1.000 6 25 2001 2016
CUI: C1834235
Disease: NEUROFIBROMATOSIS, FAMILIAL SPINAL
NEUROFIBROMATOSIS, FAMILIAL SPINAL 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome 1 22 0.720 strong 1.000 2 22 2001 2013
CUI: C0917817
Disease: Neurofibromatosis 3
Neurofibromatosis 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 5 0.300 None 1.000 1 2010 2010
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 2 799 1.000 None 0.976 44 799 1977 2020
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 1 11 1.000 strong 0.941 3 10 1992 2019
CUI: C0027830
Disease: neurofibroma
neurofibroma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 2 1 0.500 None 0.964 1 1 1992 2019
CUI: C0027809
Disease: Neurilemmoma
Neurilemmoma 		disease Neoplasms Neoplastic Process 6 1 0.320 None 1.000 1 1997 2014
CUI: C0206727
Disease: Nerve Sheath Tumors
Nerve Sheath Tumors 		group Neoplasms; Nervous System Diseases Neoplastic Process 5 0.330 None 1.000 2 2003 2014
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 17 30 0.300 moderate 1.000 1 2000 2000