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: C1527197
Disease: Angioblastic Meningioma
Angioblastic Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 12 0.300 None 1.000 1 2013 2013
CUI: C0334610
Disease: Hemangiopericytic Meningioma
Hemangiopericytic Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 12 0.300 None 1.000 1 2013 2013
CUI: C1527349
Disease: Ductal Breast Carcinoma
Ductal Breast Carcinoma 		disease Neoplasms Neoplastic Process 196 10 0.300 None 0
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 295 11 0.300 None 0
CUI: C1300127
Disease: Perivascular Epithelioid Cell Neoplasms
Perivascular Epithelioid Cell Neoplasms 		group Neoplasms Neoplastic Process 31 0.300 None 0
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 135 16 0.260 None 1.000 6 1997 2020
CUI: C0014474
Disease: Ependymoma
Ependymoma 		disease Neoplasms Neoplastic Process 244 8 0.200 None 0.958 24 1 1994 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.200 None 1.000 1 2006 2006
CUI: C0029882
Disease: Otitis Media
Otitis Media 		disease Otorhinolaryngologic Diseases Disease or Syndrome 175 8 0.200 None 0
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: C0027830
Disease: neurofibroma
neurofibroma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 125 5 0.130 None 1.000 3 1997 2008
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		disease Neoplasms Neoplastic Process 985 59 0.130 None 1.000 3 1994 2011
CUI: C0028754
Disease: Obesity
Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.120 None 1.000 2 2006 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.965 227 2 1992 2020
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 405 30 0.100 None 0.958 48 1992 2020
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.100 None 0.958 48 1994 2020
CUI: C1762616
Disease: Meningioma, benign, no ICD-O subtype
Meningioma, benign, no ICD-O subtype 		disease Neoplasms; Nervous System Diseases Neoplastic Process 404 30 0.100 None 0.958 48 1992 2020
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.100 None 0.963 27 1995 2020
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.100 None 1.000 16 2000 2020
CUI: C1863408
Disease: Juvenile posterior subcapsular lenticular opacities
Juvenile posterior subcapsular lenticular opacities 		phenotype Finding 1 0.100 None 0
CUI: C0241011
Disease: Low serum estradiol levels
Low serum estradiol levels 		phenotype Finding 33 0.100 None 0
CUI: C1860253
Disease: Pseudoepiphyses of the metacarpals
Pseudoepiphyses of the metacarpals 		phenotype Finding 9 0.100 None 0
CUI: C1861975
Disease: Cafe au lait spots, multiple
Cafe au lait spots, multiple 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 61 13 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype Finding 319 0.100 None 0
CUI: C0234144
Disease: Dysgraphia
Dysgraphia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 43 2 0.100 None 0