NF2, neurofibromin 2, 4771

N. diseases: 312; N. variants: 54
Source: ALL
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: C0349582
Disease: Trigeminal schwannoma
Trigeminal schwannoma 		disease Neoplasms Neoplastic Process 1 0.010 None 1.000 1 2005 2005
CUI: C1136041
Disease: Familial Acoustic Neuroma
Familial Acoustic Neuroma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases Neoplastic Process 1 0.300 None 1.000 1 2002 2002
CUI: C1136043
Disease: Schwannoma, Acoustic, Bilateral
Schwannoma, Acoustic, Bilateral 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases Neoplastic Process 1 0.300 None 1.000 1 2002 2002
CUI: C3272425
Disease: Gastric Schwannoma
Gastric Schwannoma 		disease Neoplastic Process 1 0.010 None 1.000 1 2009 2009
CUI: C1863408
Disease: Juvenile posterior subcapsular lenticular opacities
Juvenile posterior subcapsular lenticular opacities 		phenotype Finding 1 0.100 None 0
CUI: C1863653
Disease: Unilateral vestibular Schwannoma
Unilateral vestibular Schwannoma 		phenotype Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 1 0.100 None 0
CUI: C3810474
Disease: Occasional neurofibromas
Occasional neurofibromas 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 1 0.100 None 0
CUI: C4017083
Disease: SCHWANNOMATOSIS, SOMATIC
SCHWANNOMATOSIS, SOMATIC 		phenotype Finding 1 2 0.100 None 0 2
CUI: C0032229
Disease: Pleural Neoplasms
Pleural Neoplasms 		group Neoplasms; Respiratory Tract Diseases Neoplastic Process 2 0.300 None 1.000 1 2013 2013
CUI: C0262576
Disease: Nerve paralysis
Nerve paralysis 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C1853554
Disease: Radiation induced meningioma
Radiation induced meningioma 		disease Neoplasms; Nervous System Diseases; Wounds and Injuries Neoplastic Process 2 0.010 None 1.000 1 2000 2000
CUI: C0220695
Disease: Neurofibromatosis, type 4, of Riccardi
Neurofibromatosis, type 4, of Riccardi 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome 2 0.200 None 0
CUI: C4048809
Disease: SCHWANNOMATOSIS 1
SCHWANNOMATOSIS 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Nervous System Diseases Neoplastic Process 3 5 0.500 strong 1.000 2 2009 2013
CUI: C1136042
Disease: Neuroma, Acoustic, Bilateral
Neuroma, Acoustic, Bilateral 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases Neoplastic Process 4 0.410 None 1.000 2 2002 2006
CUI: C0476122
Disease: ovarian serous tumor
ovarian serous tumor 		disease Neoplastic Process 4 0.010 None < 0.001 1 2014 2014
CUI: C4054534
Disease: Meningioangiomatosis
Meningioangiomatosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 4 0.010 None 1.000 1 1997 1997
CUI: C1859436
Disease: Weak extraocular muscles
Weak extraocular muscles 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 4 0.100 None 0
CUI: C4022775
Disease: Focal T2 hypointense thalamic lesion
Focal T2 hypointense thalamic lesion 		phenotype Finding 4 0.100 None 0
CUI: C4023215
Disease: Abnormality of central sensory function
Abnormality of central sensory function 		phenotype Anatomical Abnormality 4 0.100 None 0
CUI: C4024276
Disease: Peripheral Schwannoma
Peripheral Schwannoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4 2 0.100 None 0
CUI: C4073063
Disease: Abnormal kinetic perimetry test
Abnormal kinetic perimetry test 		phenotype Finding 4 0.100 None 0
CUI: C4552960
Disease: Ear Pain, CTCAE
Ear Pain, CTCAE 		phenotype Finding 4 0.100 None 0
CUI: C3551915
Disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO 		phenotype Finding 5 16 0.300 strong 1.000 2 2009 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 2013 2013
CUI: C0220998
Disease: Hypothalamic hypothyroidism
Hypothalamic hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 5 0.100 None 0