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: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2
disease Neoplastic Process 28 6 0.100 0.975 119 6 1993 2018
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
disease Neoplastic Process 504 40 0.400 0.982 55 1 1992 2018
THYROID CARCINOMA, SPORADIC MEDULLARY
disease Neoplastic Process 21 6 0.200 0.977 50 4 1988 2014
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
disease Neoplastic Process 1655 87 0.100 0.929 28 1990 2016
CUI: C0342190
Disease: C-cell hyperplasia of thyroid
C-cell hyperplasia of thyroid
disease Disease or Syndrome 22 5 0.100 0.895 19 5 1993 2009
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
disease Neoplastic Process 2475 735 0.100 0.944 18 2011 2018
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
disease Neoplastic Process 2267 400 0.100 0.941 17 2011 2016
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
disease Finding 1 34 0.300 15 34 1994 2012
Secondary malignant neoplasm of lymph node
disease Neoplastic Process 1270 66 0.100 1.000 13 3 1996 2017
Columnar Cell Hyperplasia of the Breast
disease Neoplastic Process 21 2 0.100 0.538 13 2 2000 2009
CUI: C0154040
Disease: Benign neoplasm of adrenal gland
Benign neoplasm of adrenal gland
disease Neoplastic Process 22 0.300 definitive 12 1993 2017
Benign neoplasm of aortic body and other paraganglia
disease Neoplastic Process 21 0.300 definitive 12 1993 2017
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
disease Neoplastic Process 21 0.300 definitive 12 1993 2017
Malignant neoplasm of aortic body and other paraganglia
disease Neoplastic Process 21 0.300 definitive 12 1993 2017
Differentiated Thyroid Gland Carcinoma
disease Neoplastic Process 138 37 0.070 0.857 7 2004 2017
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
phenotype Neoplastic Process 2089 36 0.060 0.833 6 2001 2013
CUI: C1333600
Disease: Hereditary Malignant Neoplasm
Hereditary Malignant Neoplasm
group Neoplastic Process 61 17 0.060 1.000 6 1993 2011
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney
disease Congenital Abnormality 51 0.150 0.800 5 2001 2014
CUI: C0260037
Disease: Multiple tumors
Multiple tumors
phenotype Neoplastic Process 86 11 0.030 1.000 3 1998 2015
CUI: C3149711
Disease: PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO
PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO
phenotype Finding 8 46 0.500 3 4 2000 2009
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung
disease Neoplastic Process 282 228 0.020 1.000 2 2014 2016
Metastatic malignant neoplasm to brain
disease Neoplastic Process 162 17 0.020 1.000 2 2016 2016
CUI: C0271844
Disease: Parathyroid hyperplasia
Parathyroid hyperplasia
disease Disease or Syndrome 18 1 0.120 0.500 2 1 2000 2006
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
phenotype Neoplastic Process 839 9 0.020 1.000 2 2009 2016
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas
disease Neoplastic Process 353 121 0.020 1.000 2 2015 2017