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 6 65 1.000 definitive 0.907 79 64 1993 2018
CUI: C1868193
Disease: PNEUMOTHORAX, PRIMARY SPONTANEOUS
PNEUMOTHORAX, PRIMARY SPONTANEOUS
disease Respiratory Tract Diseases Disease or Syndrome 14 9 0.750 0.800 12 8 2003 2016
Conventional (Clear Cell) Renal Cell Carcinoma
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 630 29 0.730 1.000 5 1 2003 2014
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 420 6 0.600 strong 1.000 13 2003 2017
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 1347 175 0.500 0.938 17 2003 2016
NONPAPILLARY RENAL CARCINOMA 1 LOCUS
phenotype Finding 3 2 0.500 1 1 2008 2008
CUI: C0032326
Disease: Pneumothorax
Pneumothorax
phenotype Respiratory Tract Diseases Disease or Syndrome 14 0.460 1.000 7 2003 2014
CUI: C0149781
Disease: Spontaneous pneumothorax
Spontaneous pneumothorax
disease Respiratory Tract Diseases Disease or Syndrome 10 1 0.460 1.000 7 1 2003 2018
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
disease Neoplastic Process 499 18 0.400 1.000 13 2003 2017
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 245 2 0.390 1.000 9 2003 2017
CUI: C0010709
Disease: Cyst
Cyst
phenotype Neoplasms; Pathological Conditions, Signs and Symptoms Disease or Syndrome 168 3 0.320 1.000 3 2007 2016
CUI: C0346255
Disease: Oncocytoma, renal
Oncocytoma, renal
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 20 0.320 1.000 2 2003 2004
CUI: C0018552
Disease: Hamartoma
Hamartoma
group Neoplasms Neoplastic Process 73 3 0.310 1.000 3 2003 2016
CUI: C1266042
Disease: Chromophobe Renal Cell Carcinoma
Chromophobe Renal Cell Carcinoma
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 148 1 0.310 1.000 2 2003 2004
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 3298 955 0.310 1.000 1 2010 2010
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1072 226 0.310 1 2003 2003
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 2931 539 0.310 1.000 1 2010 2010
Congenital aneurysm of ascending aorta
disease Cardiovascular Diseases Congenital Abnormality 57 3 0.300 strong 9 2003 2016
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 104 8 0.300 limited 7 2005 2011
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1320 7 0.300 1 2009 2009
CUI: C1266043
Disease: Sarcomatoid Renal Cell Carcinoma
Sarcomatoid Renal Cell Carcinoma
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 127 0.300 1 2003 2003
CUI: C1306837
Disease: Papillary Renal Cell Carcinoma
Papillary Renal Cell Carcinoma
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 168 2 0.300 1 2003 2003
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver
disease Digestive System Diseases; Neoplasms Neoplastic Process 804 37 0.300 1 2009 2009
Collecting Duct Carcinoma of the Kidney
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 137 0.300 1 2003 2003
CUI: C0264558
Disease: Tension Pneumothorax
Tension Pneumothorax
disease Respiratory Tract Diseases Disease or Syndrome 1 0.300 1 2003 2003