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: 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
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: 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
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: 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: 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: C0032326
Disease: Pneumothorax
Pneumothorax
phenotype Respiratory Tract Diseases Disease or Syndrome 69 3 0.480 None 1.000 9 2002 2019
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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.400 None 0 4
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: C3149265
Disease: Parotid oncocytoma
Parotid oncocytoma
disease Neoplasms Neoplastic Process 1 0.310 strong 1.000 2 2011 2016
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: C0024115
Disease: Lung diseases
Lung diseases
group Respiratory Tract Diseases Disease or Syndrome 700 50 0.310 limited 1.000 1 2017 2017
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1296 609 0.310 None 1.000 1 2003 2003
CUI: C0018552
Disease: Hamartoma
Hamartoma
disease Neoplasms Neoplastic Process 91 8 0.300 None 1.000 2 2002 2016
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: C0264558
Disease: Tension Pneumothorax
Tension Pneumothorax
disease Respiratory Tract Diseases Disease or Syndrome 1 0.300 None 1.000 1 2002 2002
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
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: C1306837
Disease: Papillary Renal Cell Carcinoma
Papillary Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 223 3 0.300 None 1.000 1 2002 2002
Collecting Duct Carcinoma of the Kidney
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 162 0.300 None 1.000 1 2002 2002