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: C1266042
Disease: Chromophobe Renal Cell Carcinoma
Chromophobe Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 185 2 0.310 None 1.000 2 2002 2004
CUI: C0037285
Disease: Skin Manifestations
Skin Manifestations 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 50 5 0.020 None 1.000 2 2013 2018
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 289 55 0.020 None 1.000 2 2012 2016
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 424 28 0.020 None 1.000 2 2010 2016
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: C2826323
Disease: Refractory Cytopenia of Childhood
Refractory Cytopenia of Childhood 		disease Neoplastic Process 264 3 0.020 None 1.000 2 1 2009 2020
CUI: C0555214
Disease: Multiple lung cysts
Multiple lung cysts 		disease Disease or Syndrome 3 0.010 None 1.000 1 2015 2015
CUI: C0398597
Disease: Histiocytic syndrome
Histiocytic syndrome 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 21 2 0.010 None 1.000 1 2019 2019
CUI: C0264558
Disease: Tension Pneumothorax
Tension Pneumothorax 		disease Respiratory Tract Diseases Disease or Syndrome 1 0.300 None 1.000 1 2002 2002
CUI: C2363819
Disease: Paucigranulocytic asthma
Paucigranulocytic asthma 		disease Disease or Syndrome 10 0.010 None 1.000 1 2019 2019
CUI: C0264423
Disease: Asthma, Occupational
Asthma, Occupational 		disease Respiratory Tract Diseases; Immune System Diseases; Occupational Diseases Disease or Syndrome 42 2 0.010 None 1.000 1 2017 2017
CUI: C0338573
Disease: Cerebral venous sinus thrombosis
Cerebral venous sinus thrombosis 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 17 1 0.010 None 1.000 1 2019 2019
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 303 317 0.100 None 1.000 1 1 2013 2013
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1649 88 0.300 None 1.000 1 2009 2009
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2010 2010
CUI: C1378050
Disease: Oncocytic Neoplasm
Oncocytic Neoplasm 		disease Neoplastic Process 105 2 0.010 None 1.000 1 2009 2009
CUI: C1510502
Disease: Oxyphilic Adenoma
Oxyphilic Adenoma 		disease Neoplasms Neoplastic Process 114 3 0.010 None 1.000 1 2009 2009
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2005 2005
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: 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: 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: C2931852
Disease: Clear-cell metastatic renal cell carcinoma
Clear-cell metastatic renal cell carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 260 11 0.010 None 1.000 1 2015 2015
CUI: C3853540
Disease: Aspirin exacerbated respiratory disease
Aspirin exacerbated respiratory disease 		disease Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases; Immune System Diseases; Chemically-Induced Disorders; Otorhinolaryngologic Diseases Disease or Syndrome 94 32 0.010 None 1.000 1 2018 2018
CUI: C4025027
Disease: Repeated pneumothoraces
Repeated pneumothoraces 		disease Respiratory Tract Diseases Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
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