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: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process 31 89 1.000 definitive 0.969 92 69 1993 2017
CUI: C1832940
Disease: JUVENILE POLYPOSIS OF STOMACH
JUVENILE POLYPOSIS OF STOMACH
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome 3 8 0.800 definitive 10 3 1998 2015
CUI: C1868081
Disease: Juvenile Polyposis Coli
Juvenile Polyposis Coli
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome 4 8 0.800 definitive 10 3 1998 2015
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
disease Behavior and Behavior Mechanisms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Male Urogenital Diseases; Mental Disorders; Musculoskeletal Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 4 0.770 1.000 13 4 1993 2015
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
disease Digestive System Diseases; Endocrine System Diseases; Neoplasms Neoplastic Process 1845 136 0.700 0.965 85 1996 2018
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
disease Digestive System Diseases; Endocrine System Diseases; Neoplasms Neoplastic Process 1868 225 0.700 0.985 68 4 1996 2018
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 3298 955 0.700 strong 0.964 58 1 1996 2018
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
disease Digestive System Diseases; Endocrine System Diseases; Neoplasms Neoplastic Process 664 13 0.700 0.923 17 1998 2015
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 20 0.640 1.000 14 20 1983 2016
Hereditary hemorrhagic telangiectasia
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 28 39 0.580 strong 0.875 8 2004 2018
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1072 226 0.500 1.000 23 8 1996 2016
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 2931 539 0.400 0.981 54 1996 2018
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
disease Digestive System Diseases; Neoplasms Neoplastic Process 2397 341 0.400 1.000 15 2 1997 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.400 strong 4 2012 2015
CUI: C0011053
Disease: Deafness
Deafness
phenotype Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Finding 272 1 0.400 1 2012 2012
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 203 6 0.400 1 2012 2012
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus
disease Digestive System Diseases; Neoplasms Neoplastic Process 298 55 0.320 0.500 4 1996 2015
CUI: C1134719
Disease: Invasive Ductal Breast Carcinoma
Invasive Ductal Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 217 2 0.320 1.000 3 2004 2010
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic
disease Cardiovascular Diseases Disease or Syndrome 98 66 0.320 limited 1.000 2 2017 2018
CUI: C0021367
Disease: Mammary Ductal Carcinoma
Mammary Ductal Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 64 0.310 1.000 2 2010 2014
CUI: C0017185
Disease: Gastrointestinal Neoplasms
Gastrointestinal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 121 1 0.310 strong 1.000 2 1998 2006
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 834 23 0.310 2 2004 2011
CUI: C3805278
Disease: Extrahepatic Cholangiocarcinoma
Extrahepatic Cholangiocarcinoma
disease Neoplasms Neoplastic Process 79 1 0.310 1.000 2 2012 2016
CUI: C0345905
Disease: Intrahepatic Cholangiocarcinoma
Intrahepatic Cholangiocarcinoma
disease Neoplasms Neoplastic Process 176 4 0.310 1.000 2 2006 2012
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
disease Neoplasms Neoplastic Process 454 13 0.310 1.000 2 2006 2012