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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.060 None 1.000 6 2001 2019
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.030 None 1.000 3 2006 2014
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.020 None 1.000 2 1994 2000
CUI: C3551915
Disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO 		phenotype Finding 5 16 0.300 strong 1.000 2 2009 2013
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders 		group Mental or Behavioral Dysfunction 360 56 0.010 None 1.000 1 2018 2018
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV 		disease Neoplastic Process 573 14 0.010 None 1.000 1 2016 2016
CUI: C0476122
Disease: ovarian serous tumor
ovarian serous tumor 		disease Neoplastic Process 4 0.010 None < 0.001 1 2014 2014
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		phenotype Neoplastic Process 1027 20 0.010 None < 0.001 1 1997 1997
CUI: C2938924
Disease: Oestrogen receptor positive breast cancer
Oestrogen receptor positive breast cancer 		disease Neoplastic Process 510 58 0.010 None 1.000 1 2019 2019
CUI: C2945759
Disease: aggressive cancer
aggressive cancer 		phenotype Neoplastic Process 83 5 0.010 None 1.000 1 2014 2014
CUI: C3272425
Disease: Gastric Schwannoma
Gastric Schwannoma 		disease Neoplastic Process 1 0.010 None 1.000 1 2009 2009
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		disease Disease or Syndrome 16 62 0.010 None 1.000 1 2002 2002
CUI: C3495917
Disease: Advanced breast cancer
Advanced breast cancer 		disease Neoplastic Process 151 3 0.010 None 1.000 1 2011 2011
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		disease Neoplastic Process 356 40 0.010 None 1.000 1 2019 2019
CUI: C0241011
Disease: Low serum estradiol levels
Low serum estradiol levels 		phenotype Finding 33 0.100 None 0
CUI: C0270680
Disease: Posterior fossa compression syndrome
Posterior fossa compression syndrome 		disease Disease or Syndrome 7 0.100 None 0
CUI: C0476405
Disease: Lung function testing abnormal
Lung function testing abnormal 		phenotype Finding 6 0.100 None 0
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype Cell or Molecular Dysfunction 151 0.100 None 0
CUI: C0694563
Disease: Excessive daytime somnolence
Excessive daytime somnolence 		phenotype Disease or Syndrome 39 0.100 None 0
CUI: C1853141
Disease: Slow decrease in visual acuity
Slow decrease in visual acuity 		phenotype Finding 27 3 0.100 None 0
CUI: C1860253
Disease: Pseudoepiphyses of the metacarpals
Pseudoepiphyses of the metacarpals 		phenotype Finding 9 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype Finding 319 0.100 None 0
CUI: C1863408
Disease: Juvenile posterior subcapsular lenticular opacities
Juvenile posterior subcapsular lenticular opacities 		phenotype Finding 1 0.100 None 0
CUI: C4017083
Disease: SCHWANNOMATOSIS, SOMATIC
SCHWANNOMATOSIS, SOMATIC 		phenotype Finding 1 2 0.100 None 0 2
CUI: C4021655
Disease: Abnormality of the sense of smell
Abnormality of the sense of smell 		phenotype Finding 14 1 0.100 None 0