SMAD4, SMAD family member 4, 4089

N. diseases: 377; N. variants: 12
Source: BEFREE ×
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 1 1.000 definitive 0.980 72 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 2 0.800 None 1.000 13 2 2010 2020
CUI: C1832942
Disease: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
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 0.760 strong 0.909 6 2004 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5011 1186 0.700 strong 0.981 102 1996 2020
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2659 236 0.700 None 1.000 71 1996 2020
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 448 14 0.700 None 1.000 10 1999 2016
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2640 238 0.600 None 1.000 79 1996 2020
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 589 27 0.500 None 1.000 7 1996 2016
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		disease Respiratory Tract Diseases Disease or Syndrome 695 24 0.420 None 1.000 2 2008 2018
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 42 0.400 strong 1.000 16 2004 2019
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		disease Digestive System Diseases; Neoplasms Neoplastic Process 3687 603 0.400 None 1.000 15 1997 2019
CUI: C0345905
Disease: Intrahepatic Cholangiocarcinoma
Intrahepatic Cholangiocarcinoma 		disease Neoplasms Neoplastic Process 462 19 0.370 None 1.000 7 2006 2019
CUI: C1134719
Disease: Invasive Ductal Breast Carcinoma
Invasive Ductal Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 409 12 0.340 None 1.000 4 2004 2017
CUI: C3805278
Disease: Extrahepatic Cholangiocarcinoma
Extrahepatic Cholangiocarcinoma 		disease Neoplasms Neoplastic Process 106 3 0.330 None 1.000 3 2012 2019
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		disease Neoplasms Neoplastic Process 848 41 0.320 None 0.667 2 1 2006 2018
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 457 52 0.320 None 0.750 2 1996 2014
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 1241 7 0.320 None 1.000 2 2008 2017
CUI: C3714239
Disease: Bmpr1a-Related Juvenile Polyposis
Bmpr1a-Related Juvenile Polyposis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome 1 0.310 None 1.000 1 2005 2005
CUI: C0026848
Disease: Myopathy
Myopathy 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 469 93 0.310 None 1.000 1 2011 2017
CUI: C2931038
Disease: Pancreatic carcinoma, familial
Pancreatic carcinoma, familial 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 42 9 0.310 None 1.000 1 1997 2015
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5541 769 0.300 None 0.960 24 1999 2020
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		disease Respiratory Tract Diseases Disease or Syndrome 856 25 0.230 None 1.000 3 2011 2019
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2694 1598 0.220 None 1.000 2 2006 2019
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		disease Respiratory Tract Diseases Disease or Syndrome 1213 301 0.210 None 1.000 1 2008 2018
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome; Congenital Abnormality 87 40 0.210 None 1.000 1 2013 2013