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: C3149266
Disease: Neural tissue tumors
Neural tissue tumors 		phenotype Neoplasms Finding 1 0.300 strong 1.000 1 2016 2016
CUI: C0206632
Disease: Angiolipoma
Angiolipoma 		disease Neoplasms Neoplastic Process 3 0.300 strong 1.000 1 2016 2016
CUI: C0007097
Disease: Carcinoma
Carcinoma 		group Neoplasms Neoplastic Process 2462 103 0.010 None 1.000 1 2016 2016
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 949 103 0.010 None 1.000 1 2016 2016
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		group Neoplasms Neoplastic Process 2235 168 0.010 None 1.000 1 2016 2016
CUI: C0747708
Disease: Pneumothorax, recurrent
Pneumothorax, recurrent 		disease Disease or Syndrome 2 0.010 None 1.000 1 2015 2015
CUI: C0555214
Disease: Multiple lung cysts
Multiple lung cysts 		disease Disease or Syndrome 3 0.010 None 1.000 1 2015 2015
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: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1175 145 0.020 None 1.000 2 2014 2016
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.050 None 1.000 5 2013 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.040 None 1.000 4 2013 2019
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 174 187 0.020 None 1.000 2 2013 2013
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: 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: 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: 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: 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: C3887499
Disease: Renal cyst
Renal cyst 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 170 17 0.130 None 1.000 3 2010 2017
CUI: C0037284
Disease: Skin lesion
Skin lesion 		group Skin and Connective Tissue Diseases Disease or Syndrome 563 52 0.020 None 1.000 2 2010 2012
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: 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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.010 None 1.000 1 2010 2010
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: C0037277
Disease: Skin Diseases, Genetic
Skin Diseases, Genetic 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 57 6 0.040 None 0.750 4 2009 2017