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: C0751588
Disease: Benign Supratentorial Neoplasms
Benign Supratentorial Neoplasms
disease Neoplasms; Nervous System Diseases Neoplastic Process 1 0.300 None 1.000 1 2004 2004
CUI: C0751589
Disease: Cancer, Supratentorial
Cancer, Supratentorial
disease Neoplasms; Nervous System Diseases Neoplastic Process 1 0.300 None 1.000 1 2004 2004
CUI: C0751590
Disease: Primary Supratentorial Neoplasms
Primary Supratentorial Neoplasms
disease Neoplasms; Nervous System Diseases Neoplastic Process 1 0.300 None 1.000 1 2004 2004
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome 2 50 0.700 None 1.000 48 49 1995 2017
CUI: C0578438
Disease: Adenocarcinoma of sigmoid colon
Adenocarcinoma of sigmoid colon
disease Digestive System Diseases; Neoplasms Neoplastic Process 2 0.010 None 1.000 1 2018 2018
CUI: C1707251
Disease: Cancer Other
Cancer Other
disease Neoplastic Process 2 2 0.100 None 0 1
CUI: C0153426
Disease: Malignant neoplasm of duodenum
Malignant neoplasm of duodenum
disease Digestive System Diseases; Neoplasms Neoplastic Process 5 1 0.010 None 1.000 1 2005 2005
Constitutional Mismatch Repair Deficiency Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 6 1 0.560 definitive 1.000 17 1 1998 2017
CUI: C4085873
Disease: LUSCAN-LUMISH SYNDROME
LUSCAN-LUMISH SYNDROME
disease Disease or Syndrome 6 8 0.010 None 1.000 1 2019 2019
CUI: C1860335
Disease: Axillary freckling
Axillary freckling
phenotype Skin and Connective Tissue Diseases Finding 6 12 0.100 None 0
THYROID HORMONE PLASMA MEMBRANE TRANSPORT DEFECT
disease Endocrine System Diseases Disease or Syndrome 7 0.010 None 1.000 1 2019 2019
CUI: C0334584
Disease: Spongioblastoma
Spongioblastoma
disease Neoplasms Neoplastic Process 8 0.300 None 1.000 1 2004 2004
CUI: C0541912
Disease: Duodenal Cancer
Duodenal Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 8 1 0.010 None 1.000 1 2005 2005
CUI: C0948588
Disease: Lymphangiosis carcinomatosa
Lymphangiosis carcinomatosa
disease Hemic and Lymphatic Diseases Neoplastic Process 8 0.010 None 1.000 1 2007 2007
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 8 20 0.010 None 1.000 1 2017 2017
Hyperaldosteronism, Familial, Type II
disease Endocrine System Diseases Disease or Syndrome 8 9 0.010 None 1.000 1 2008 2008
Cerebral Primitive Neuroectodermal Tumor
disease Neoplasms Neoplastic Process 9 0.300 None 1.000 1 2004 2004
CUI: C1368816
Disease: Sebaceous adenoma
Sebaceous adenoma
disease Neoplasms Neoplastic Process 11 6 0.010 None 1.000 1 2018 2018
CUI: C0038874
Disease: Supratentorial Neoplasms
Supratentorial Neoplasms
group Neoplasms; Nervous System Diseases Neoplastic Process 12 2 0.300 None 1.000 1 2004 2004
CUI: C0334596
Disease: Medulloepithelioma
Medulloepithelioma
disease Neoplasms Neoplastic Process 13 0.300 None 1.000 1 2004 2004
CUI: C0346300
Disease: Pituitary carcinoma
Pituitary carcinoma
disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 13 1 0.100 None 0 1
CUI: C1263762
Disease: Endocervical adenocarcinoma
Endocervical adenocarcinoma
disease Neoplastic Process 14 0.010 None 1.000 1 2018 2018
CUI: C1299237
Disease: Endocervical Carcinoma
Endocervical Carcinoma
disease Neoplastic Process 14 0.010 None 1.000 1 2018 2018
CUI: C3896578
Disease: Familial Colorectal Cancer Type X
Familial Colorectal Cancer Type X
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process 14 1 0.010 None 1.000 1 2017 2017
CUI: C4020965
Disease: Cardiac diverticulum
Cardiac diverticulum
disease Congenital Abnormality 14 0.100 None 0