SMAD2, SMAD family member 2, 4087

N. diseases: 289; N. variants: 8
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.
Familial thoracic aortic aneurysm and aortic dissection
disease Disease or Syndrome 59 442 0.500 moderate 1.000 6 1996 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.400 None 0.963 27 1996 2019
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 20 35 0.330 None 1.000 3 2018 2019
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 267 80 0.310 limited 1.000 2 2009 2013
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 10 7 0.310 None 1.000 1 2008 2008
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.300 None 1.000 28 1999 2019
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.300 None 1.000 2 1998 2004
CUI: C1876165
Disease: Copper-Overload Cirrhosis
Copper-Overload Cirrhosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 11 0.300 None 1.000 1 2012 2012
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 870 0.300 None 1.000 1 2006 2006
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 21 31 0.300 None 1.000 1 2008 2008
CUI: C0600519
Disease: Ventricular Remodeling
Ventricular Remodeling
phenotype Pathological Conditions, Signs and Symptoms Organ or Tissue Function 24 0.300 None 1.000 1 2006 2006
CUI: C0149519
Disease: Chronic Persistent Hepatitis
Chronic Persistent Hepatitis
disease Digestive System Diseases Disease or Syndrome 33 0.300 None 1.000 1 2012 2012
CUI: C0600520
Disease: Left Ventricle Remodeling
Left Ventricle Remodeling
phenotype Pathological Conditions, Signs and Symptoms Organ or Tissue Function 21 0.300 None 1.000 1 2006 2006
CUI: C0524611
Disease: Cryptogenic Chronic Hepatitis
Cryptogenic Chronic Hepatitis
disease Digestive System Diseases Disease or Syndrome 22 0.300 None 1.000 1 2012 2012
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis
disease Digestive System Diseases Disease or Syndrome 122 34 0.300 None 1.000 1 2012 2012
CUI: C0019189
Disease: Hepatitis, Chronic
Hepatitis, Chronic
disease Digestive System Diseases Disease or Syndrome 224 10 0.300 None 1.000 1 2012 2012
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.260 None 1.000 7 2000 2019
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver
disease Digestive System Diseases; Neoplasms Neoplastic Process 1649 88 0.220 None 1.000 3 2008 2018
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1424 7 0.220 None 1.000 3 2008 2017
Hepatoblastoma Caused By Somatic Mutation
disease Digestive System Diseases; Neoplasms Neoplastic Process 106 0.200 None 1.000 1 2008 2008
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
disease Neoplasms Neoplastic Process 452 22 0.200 None 1.000 1 2008 2008
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.983 59 1996 2020
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.100 None 1.000 36 1997 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.100 None 1.000 31 1997 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.100 None 0.963 27 2001 2020