SMAD4, SMAD family member 4, 4089

N. diseases: 575; N. variants: 144
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: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process 48 138 1.000 definitive 0.980 102 88 1997 2020
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 3 7 0.800 None 1.000 16 7 2010 2020
CUI: C1868081
Disease: Juvenile Polyposis Coli
Juvenile Polyposis Coli
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome 9 0.800 definitive 1.000 9 1998 2015
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 0.800 definitive 1.000 9 1998 2015
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 1 23 0.760 strong 0.909 11 23 2004 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.700 strong 0.981 103 3 1996 2020
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2689 322 0.700 None 1.000 71 7 1996 2020
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 764 20 0.700 None 1.000 14 1999 2016
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2667 277 0.600 None 1.000 79 1996 2020
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1296 609 0.500 None 1.000 21 8 1996 2016
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 870 0.500 None 1.000 2 2006 2009
Familial thoracic aortic aneurysm and aortic dissection
disease Disease or Syndrome 59 442 0.500 limited 1.000 1 2019 2019
Idiopathic pulmonary arterial hypertension
disease Respiratory Tract Diseases Disease or Syndrome 776 24 0.420 None 1.000 3 2008 2018
Hereditary hemorrhagic telangiectasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 42 81 0.400 strong 1.000 17 2004 2019
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
disease Digestive System Diseases; Neoplasms Neoplastic Process 3806 615 0.400 None 1.000 15 1997 2019
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension
disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 413 70 0.400 None 1.000 1 2018 2018
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 325 43 0.400 None 1.000 1 2011 2011
CUI: C0345905
Disease: Intrahepatic Cholangiocarcinoma
Intrahepatic Cholangiocarcinoma
disease Neoplasms Neoplastic Process 470 19 0.370 None 1.000 8 2006 2019
CUI: C1134719
Disease: Invasive Ductal Breast Carcinoma
Invasive Ductal Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 414 16 0.340 None 1.000 5 2004 2017
CUI: C3805278
Disease: Extrahepatic Cholangiocarcinoma
Extrahepatic Cholangiocarcinoma
disease Neoplasms Neoplastic Process 119 3 0.330 None 1.000 4 2012 2019
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus
disease Digestive System Diseases; Neoplasms Neoplastic Process 468 81 0.320 None 0.750 4 1996 2014
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
disease Neoplasms Neoplastic Process 877 43 0.320 None 0.667 3 1 2006 2018
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1424 7 0.320 None 1.000 3 2008 2017
CUI: C0026848
Disease: Myopathy
Myopathy
group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.310 None 1.000 2 2011 2017
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 820 55 0.310 None 1.000 2 2004 2010