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: 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
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: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2084 288 0.900 strong 0.920 25 5 2002 2020
CUI: C1868193
Disease: PNEUMOTHORAX, PRIMARY SPONTANEOUS
PNEUMOTHORAX, PRIMARY SPONTANEOUS
disease Disease or Syndrome 46 15 0.800 None 0.895 19 13 2002 2019
CUI: C0149781
Disease: Spontaneous pneumothorax
Spontaneous pneumothorax
disease Respiratory Tract Diseases Disease or Syndrome 30 6 0.700 strong 0.882 17 3 2002 2019
Conventional (Clear Cell) Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2346 222 0.900 None 0.938 16 8 2002 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: 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: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 295 11 0.500 None 0.933 15 2 2003 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: 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: 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: 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: C0018552
Disease: Hamartoma
Hamartoma
disease Neoplasms Neoplastic Process 91 8 0.300 None 1.000 2 2002 2016
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: 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: C0206681
Disease: Adenocarcinoma, Clear Cell
Adenocarcinoma, Clear Cell
disease Neoplasms Neoplastic Process 117 6 0.020 None 1.000 2 1 2009 2013
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: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 1175 145 0.020 None 1.000 2 2014 2016
CUI: C0949541
Disease: Hurthle Cell Tumor
Hurthle Cell Tumor
disease Neoplasms Neoplastic Process 170 9 0.020 None 0.500 2 1 2004 2009
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: 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