SMAD3, SMAD family member 3, 4088

N. diseases: 470; N. variants: 95
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: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3 		disease Disease or Syndrome 1 9 0.760 definitive 1.000 12 9 2001 2018
CUI: C4476551
Disease: Dilatation of the sinus of Valsalva
Dilatation of the sinus of Valsalva 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C4476807
Disease: Abnormality of bladder morphology
Abnormality of bladder morphology 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C1265769
Disease: Multiple aneurysms
Multiple aneurysms 		disease Cardiovascular Diseases Disease or Syndrome 2 0.010 None 1.000 1 2017 2017
CUI: C4025381
Disease: Osteoarthritis of the small joints of the hand
Osteoarthritis of the small joints of the hand 		disease Musculoskeletal Diseases Disease or Syndrome 2 0.100 None 0
CUI: C0010695
Disease: Cystocele
Cystocele 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 4 0.100 None 0
CUI: C0031903
Disease: Pigeon Breeder's Lung
Pigeon Breeder's Lung 		disease Respiratory Tract Diseases; Immune System Diseases; Occupational Diseases Disease or Syndrome 5 0.010 None 1.000 1 2017 2017
CUI: C1836635
Disease: Loeys-Dietz Aortic Aneurysm Syndrome
Loeys-Dietz Aortic Aneurysm Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 5 0.300 None 1.000 1 2012 2012
CUI: C4277533
Disease: Dissection, Blood Vessel
Dissection, Blood Vessel 		phenotype Cardiovascular Diseases Pathologic Function 5 0.300 None 1.000 1 2011 2011
CUI: C4551955
Disease: Loeys-Dietz Syndrome, Type 1a
Loeys-Dietz Syndrome, Type 1a 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 5 10 0.300 None 1.000 1 2012 2012
CUI: C4703646
Disease: Eosinophilic infiltration of the esophagus
Eosinophilic infiltration of the esophagus 		phenotype Digestive System Diseases Finding 5 0.100 None 0
CUI: C0948402
Disease: Hypertrophic pachymeningitis
Hypertrophic pachymeningitis 		disease Disease or Syndrome 8 0.010 None 1.000 1 2019 2019
CUI: C0206643
Disease: Neoplasms, Fibrous Tissue
Neoplasms, Fibrous Tissue 		group Neoplasms Neoplastic Process 9 0.020 None 1.000 2 2018 2019
CUI: C0742597
Disease: colon (non-specific) lesion
colon (non-specific) lesion 		disease Disease or Syndrome 9 0.010 None 1.000 1 2013 2013
CUI: C1859101
Disease: Vertebral chordoma
Vertebral chordoma 		disease Neoplasms Neoplastic Process 9 1 0.010 None 1.000 1 2019 2019
CUI: C2732697
Disease: Autoimmune inflammation of skeletal muscle
Autoimmune inflammation of skeletal muscle 		disease Musculoskeletal Diseases; Immune System Diseases; Nervous System Diseases Disease or Syndrome 9 0.010 None 1.000 1 2018 2018
CUI: C0340613
Disease: Arterial aneurysm
Arterial aneurysm 		disease Cardiovascular Diseases Anatomical Abnormality 10 2 0.020 None 1.000 2 2011 2018
CUI: C0409495
Disease: Protrusio acetabuli
Protrusio acetabuli 		disease Anatomical Abnormality 10 2 0.100 None 0
CUI: C1852540
Disease: Coronary Artery Dissection, Spontaneous
Coronary Artery Dissection, Spontaneous 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 11 0.020 None 1.000 2 2017 2019
CUI: C0007762
Disease: Cerebellar Neoplasms
Cerebellar Neoplasms 		group Neoplasms; Nervous System Diseases Neoplastic Process 12 5 0.010 None 1.000 1 2007 2007
CUI: C0033831
Disease: Psychological pseudocyesis
Psychological pseudocyesis 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 12 0.010 None 1.000 1 2019 2019
CUI: C0042140
Disease: Uterine Prolapse
Uterine Prolapse 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Anatomical Abnormality 12 0.100 None 0
CUI: C4020848
Disease: Aneurysmal disease
Aneurysmal disease 		disease Disease or Syndrome 14 0.010 None 1.000 1 2015 2015
CUI: C0235419
Disease: Hyperuricemic nephropathy
Hyperuricemic nephropathy 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 15 0.010 None 1.000 1 2019 2019
CUI: C1388233
Disease: Aneurysm of descending thoracic aorta
Aneurysm of descending thoracic aorta 		phenotype Cardiovascular Diseases Anatomical Abnormality 15 0.100 None 0