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: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases Neoplastic Process 127 49 1.000 definitive 0.987 239 47 1991 2020
CUI: C0025286
Disease: Meningioma
Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 634 43 0.800 None 0.984 122 2 1992 2020
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Nervous System Diseases Neoplastic Process 18 2 0.580 None 1.000 9 1997 2016
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2084 288 0.510 None 1.000 2 2012 2015
CUI: C0027809
Disease: Neurilemmoma
Neurilemmoma
disease Neoplasms Neoplastic Process 193 11 0.500 None 1.000 108 1 1992 2020
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: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma
disease Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases Neoplastic Process 131 3 0.400 strong 0.978 45 1994 2020
CUI: C0025500
Disease: Mesothelioma
Mesothelioma
disease Neoplasms Neoplastic Process 560 4 0.400 None 1.000 23 1995 2020
CUI: C0347515
Disease: Spinal Meningioma
Spinal Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 19 0.400 None 1.000 1 2013 2013
CUI: C0349604
Disease: Intracranial Meningioma
Intracranial Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 38 3 0.400 None 1.000 1 2013 2013
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 420 12 0.390 None 1.000 14 1999 2020
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.360 None 1.000 6 1 1995 2018
CUI: C0281784
Disease: Benign Meningioma
Benign Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 35 0.330 None 1.000 4 2001 2016
CUI: C0205834
Disease: Meningiomas, Multiple
Meningiomas, Multiple
disease Neoplasms; Nervous System Diseases Neoplastic Process 17 0.320 None 1.000 3 1997 2013
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 3087 515 0.320 None 1.000 2 1996 2012
Conventional (Clear Cell) Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2346 222 0.310 None 1.000 2 2012 2015
CUI: C1384406
Disease: Secretory meningioma
Secretory meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 16 0.310 None 1.000 2 2007 2013
CUI: C0334607
Disease: Psammomatous Meningioma
Psammomatous Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 22 0.310 None 1.000 2 1997 2013
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 664 22 0.310 None 1.000 1 2019 2019
CUI: C1333989
Disease: Familial meningioma
Familial meningioma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 6 0.310 None 1.000 1 1998 1998
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 665 21 0.310 None 1.000 1 2019 2019
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 311 827 0.300 None 1.000 14 1996 2020
MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
phenotype Finding 5 16 0.300 strong 1.000 2 2009 2013
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