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: C1969057
Disease: Noonan Syndrome 5
Noonan Syndrome 5
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1 10 0.810 1.000 8 10 2007 2016
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 60 129 0.800 definitive 1.000 48 18 1991 2016
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 327 287 0.700 limited 1.000 10 2007 2017
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 28 22 0.640 1.000 6 4 1993 2012
CUI: C1969056
Disease: LEOPARD SYNDROME 2
LEOPARD SYNDROME 2
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1 3 0.600 4 3 2007 2015
CUI: C4014656
Disease: CARDIOMYOPATHY, DILATED, 1NN
CARDIOMYOPATHY, DILATED, 1NN
disease Disease or Syndrome 1 6 0.600 2 6 2014 2015
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 2453 389 0.500 1.000 82 3 2003 2017
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 300 203 0.440 1.000 5 1 2005 2016
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 1187 428 0.420 1.000 3 1 2014 2018
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
group Cardiovascular Diseases Disease or Syndrome 418 387 0.410 1.000 1 2014 2014
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.400 1.000 18 1995 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.400 1.000 18 1995 2018
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 2242 362 0.400 1.000 11 2003 2017
CUI: C0017638
Disease: Glioma
Glioma
disease Neoplasms Neoplastic Process 2210 180 0.400 1.000 11 2007 2017
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 52 64 0.400 1.000 11 2007 2014
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 2448 409 0.340 1.000 5 1990 2016
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
disease Neoplasms Neoplastic Process 121 3 0.330 1.000 3 2009 2015
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
group Neoplasms; Respiratory Tract Diseases Neoplastic Process 1176 23 0.320 1.000 3 2002 2014
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma
disease Neoplasms Neoplastic Process 503 11 0.320 1.000 3 2007 2013
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver
disease Digestive System Diseases; Neoplasms Neoplastic Process 804 37 0.320 1.000 3 2008 2015
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2386 303 0.320 1.000 3 1990 2011
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1320 7 0.320 1.000 3 2003 2011
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 0.310 1.000 2 2012 2015
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 209 368 0.310 strong 1.000 2 2007 2011
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 118 3 0.310 1.000 2 2009 2015