FLCN, folliculin, 201163

N. diseases: 160; N. variants: 127
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: C1860850
Disease: Familial multiple trichodiscomas
Familial multiple trichodiscomas 		disease Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome 1 0.020 None 0.500 2 2011 2013
CUI: C3149265
Disease: Parotid oncocytoma
Parotid oncocytoma 		disease Neoplasms Neoplastic Process 1 0.310 strong 1.000 2 2011 2016
CUI: C0264558
Disease: Tension Pneumothorax
Tension Pneumothorax 		disease Respiratory Tract Diseases Disease or Syndrome 1 0.300 None 1.000 1 2002 2002
CUI: C3149266
Disease: Neural tissue tumors
Neural tissue tumors 		phenotype Neoplasms Finding 1 0.300 strong 1.000 1 2016 2016
CUI: C4025027
Disease: Repeated pneumothoraces
Repeated pneumothoraces 		disease Respiratory Tract Diseases Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C2750825
Disease: NONPAPILLARY RENAL CARCINOMA 1 LOCUS
NONPAPILLARY RENAL CARCINOMA 1 LOCUS 		phenotype Finding 1 0.200 None 0
CUI: C4022556
Disease: Large intestinal polyposis
Large intestinal polyposis 		disease Digestive System Diseases Disease or Syndrome 1 0.100 None 0
CUI: C4275252
Disease: Familial spontaneous pneumothorax
Familial spontaneous pneumothorax 		disease Respiratory Tract Diseases Disease or Syndrome 2 0.070 None 1.000 7 2005 2020
CUI: C0747708
Disease: Pneumothorax, recurrent
Pneumothorax, recurrent 		disease Disease or Syndrome 2 0.010 None 1.000 1 2015 2015
CUI: C0206632
Disease: Angiolipoma
Angiolipoma 		disease Neoplasms Neoplastic Process 3 0.300 strong 1.000 1 2016 2016
CUI: C0555214
Disease: Multiple lung cysts
Multiple lung cysts 		disease Disease or Syndrome 3 0.010 None 1.000 1 2015 2015
CUI: C2931263
Disease: Familial cerebral cavernous malformation
Familial cerebral cavernous malformation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 4 1 0.010 None 1.000 1 2017 2017
CUI: C0006288
Disease: Bronchopulmonary Sequestration
Bronchopulmonary Sequestration 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 6 0.100 None 0
CUI: C2931246
Disease: Potocki-Lupski syndrome
Potocki-Lupski syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 7 2 0.410 None 1.000 1 2 2012 2012
CUI: C1333985
Disease: Hereditary clear cell renal cell carcinoma
Hereditary clear cell renal cell carcinoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 8 0.300 None 1.000 1 2002 2002
CUI: C2608055
Disease: Hereditary Renal Cell Carcinoma
Hereditary Renal Cell Carcinoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 8 2 0.010 None 1.000 1 2020 2020
CUI: C0546483
Disease: Lung cyst
Lung cyst 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Respiratory Tract Diseases Disease or Syndrome 9 0.070 None 1.000 7 2009 2019
CUI: C2931352
Disease: Familial renal cell carcinoma
Familial renal cell carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 9 0.020 None 1.000 2 2008 2008
CUI: C0454642
Disease: Receptive language delay
Receptive language delay 		disease Mental or Behavioral Dysfunction 9 5 0.100 None 0
CUI: C1840572
Disease: HIP DYSPLASIA, BEUKES TYPE
HIP DYSPLASIA, BEUKES TYPE 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 10 6 0.100 None 0.967 30 2 2007 2020
CUI: C0346011
Disease: Fibrofolliculoma
Fibrofolliculoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 10 1 0.200 None 0.938 16 2007 2019
CUI: C2363819
Disease: Paucigranulocytic asthma
Paucigranulocytic asthma 		disease Disease or Syndrome 10 0.010 None 1.000 1 2019 2019
CUI: C4025726
Disease: Abnormality of the pleura
Abnormality of the pleura 		disease Anatomical Abnormality 10 0.100 None 0
CUI: C1856118
Disease: Prominent nasal tip
Prominent nasal tip 		phenotype Finding 13 4 0.100 None 0
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 16 92 1.000 definitive 0.968 124 90 2002 2020