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.
CUI: C0240111
Disease: Arthritis of knee
Arthritis of knee 		disease Musculoskeletal Diseases Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C0685869
Disease: Monophthalmos
Monophthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 6 0.010 None 1.000 1 2000 2000
CUI: C0744669
Disease: Complex congenital heart disease
Complex congenital heart disease 		disease Disease or Syndrome 7 1 0.010 None 1.000 1 2018 2018
CUI: C0857516
Disease: Floppy
Floppy 		phenotype Sign or Symptom 7 0.010 None 1.000 1 2016 2016
CUI: C1168328
Disease: Low Grade Prostatic Intraepithelial Neoplasia
Low Grade Prostatic Intraepithelial Neoplasia 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 7 0.010 None 1.000 1 2017 2017
CUI: C0263409
Disease: Linear Scleroderma
Linear Scleroderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 9 0.010 None 1.000 1 2019 2019
CUI: C0340613
Disease: Arterial aneurysm
Arterial aneurysm 		disease Cardiovascular Diseases Anatomical Abnormality 10 2 0.020 None 1.000 2 2015 2018
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: C0241982
Disease: Bulla of lung
Bulla of lung 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 11 2 0.010 None 1.000 1 2018 2018
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: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		disease Disease or Syndrome 12 1 0.010 None 1.000 1 2008 2008
CUI: C4020848
Disease: Aneurysmal disease
Aneurysmal disease 		disease Disease or Syndrome 14 0.020 None 1.000 2 2013 2019
CUI: C0333297
Disease: Chronic ulcer
Chronic ulcer 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 15 0.010 None 1.000 1 2017 2017
CUI: C1510489
Disease: Cerebral Amyloid Angiopathy, Hereditary
Cerebral Amyloid Angiopathy, Hereditary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 19 4 0.010 None 1.000 1 2019 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: C2931672
Disease: Cerebral hemorrhage with amyloidosis, hereditary, Dutch type
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 20 2 0.010 None 1.000 1 2018 2018
CUI: C3888896
Disease: Wet age-related macular degeneration
Wet age-related macular degeneration 		disease Disease or Syndrome 20 2 0.010 None 1.000 1 2017 2017
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: 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: C0029417
Disease: Osteoblastoma
Osteoblastoma 		disease Neoplasms Neoplastic Process 22 0.010 None 1.000 1 2012 2012
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: C1306068
Disease: After-cataract
After-cataract 		disease Eye Diseases Disease or Syndrome 22 2 0.010 None 1.000 1 2015 2015
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: C1704274
Disease: Intrauterine adhesions
Intrauterine adhesions 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 24 0.010 None 1.000 1 2019 2019
CUI: C0151814
Disease: Coronary Occlusion
Coronary Occlusion 		disease Cardiovascular Diseases Disease or Syndrome 28 1 0.010 None 1.000 1 2019 2019