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: C0024115
Disease: Lung diseases
Lung diseases 		group Respiratory Tract Diseases Disease or Syndrome 700 50 0.310 limited 1.000 1 2017 2017
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		group Skin and Connective Tissue Diseases Disease or Syndrome 188 24 0.300 limited 1.000 1 2005 2005
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: 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: C3149265
Disease: Parotid oncocytoma
Parotid oncocytoma 		disease Neoplasms Neoplastic Process 1 0.310 strong 1.000 2 2011 2016
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: C0206632
Disease: Angiolipoma
Angiolipoma 		disease Neoplasms Neoplastic Process 3 0.300 strong 1.000 1 2016 2016
CUI: C0023798
Disease: Lipoma
Lipoma 		disease Neoplasms Neoplastic Process 87 9 0.300 strong 1.000 1 2016 2016
CUI: C3149266
Disease: Neural tissue tumors
Neural tissue tumors 		phenotype Neoplasms Finding 1 0.300 strong 1.000 1 2016 2016
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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 88 6387 0.100 None 1.000 59 58 2000 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.940 50 2 2004 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: C1868193
Disease: PNEUMOTHORAX, PRIMARY SPONTANEOUS
PNEUMOTHORAX, PRIMARY SPONTANEOUS 		disease Disease or Syndrome 46 15 0.800 None 0.895 19 13 2002 2019
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: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
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: 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: 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: 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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.050 None 1.000 5 2013 2019
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