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: C0346011
Disease: Fibrofolliculoma
Fibrofolliculoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 10 1 0.200 None 0.938 16 2007 2019
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 665 21 0.600 strong 1.000 16 2002 2018
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 0.600 strong 1.000 15 2002 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.100 None 0.900 10 2004 2020
CUI: C0032326
Disease: Pneumothorax
Pneumothorax 		phenotype Respiratory Tract Diseases Disease or Syndrome 69 3 0.480 None 1.000 9 2002 2019
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: 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: 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: 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
CUI: C0010709
Disease: Cyst
Cyst 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Disease or Syndrome 221 6 0.330 None 1.000 4 2007 2017
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 363 9 0.040 None 0.750 4 2007 2017
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: C0346255
Disease: Oncocytoma, renal
Oncocytoma, renal 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 34 0.510 strong 1.000 2 2002 2004
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: 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: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1175 145 0.020 None 1.000 2 2014 2016
CUI: C0018552
Disease: Hamartoma
Hamartoma 		disease Neoplasms Neoplastic Process 91 8 0.300 None 1.000 2 2002 2016
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		disease Respiratory Tract Diseases Disease or Syndrome 352 64 0.020 None 1.000 2 2005 2008
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: 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: C3149265
Disease: Parotid oncocytoma
Parotid oncocytoma 		disease Neoplasms Neoplastic Process 1 0.310 strong 1.000 2 2011 2016
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: 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: 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