SMAD9, SMAD family member 9, 4093

N. diseases: 43; N. variants: 10
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: C3888002
Disease: PULMONARY HYPERTENSION, PRIMARY, 2
PULMONARY HYPERTENSION, PRIMARY, 2 		disease Disease or Syndrome 1 3 0.600 limited 1.000 2 3 2011 2015
CUI: C1867423
Disease: Increased pulmonary vascular resistance
Increased pulmonary vascular resistance 		phenotype Finding 4 0.100 None 0
CUI: C3697119
Disease: Pulmonary arterial hypertension associated with congenital heart disease
Pulmonary arterial hypertension associated with congenital heart disease 		disease Disease or Syndrome 5 11 0.100 None 1.000 1 1 2018 2018
CUI: C1969342
Disease: PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED
PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED 		disease Respiratory Tract Diseases Disease or Syndrome 7 3 0.300 None 0
CUI: C1969343
Disease: Pulmonary Hypertension, Primary, Fenfluramine-Associated
Pulmonary Hypertension, Primary, Fenfluramine-Associated 		disease Respiratory Tract Diseases Disease or Syndrome 7 0.300 None 0
CUI: C3714844
Disease: Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia
Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia 		disease Respiratory Tract Diseases Disease or Syndrome 7 1 0.300 None 0
CUI: C4552070
Disease: Pulmonary Hypertension, Primary, 1
Pulmonary Hypertension, Primary, 1 		disease Respiratory Tract Diseases Disease or Syndrome 9 323 0.300 None 0
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		disease Disease or Syndrome 12 1 0.300 None 1.000 1 2011 2011
CUI: C1150929
Disease: 2-oxo-hept-3-ene-1,7-dioate hydratase activity
2-oxo-hept-3-ene-1,7-dioate hydratase activity 		phenotype Molecular Function 14 0.300 None 1.000 1 2015 2015
CUI: C1701938
Disease: Associated Pulmonary Arterial Hypertension
Associated Pulmonary Arterial Hypertension 		disease Respiratory Tract Diseases Disease or Syndrome 22 4 0.010 None 1.000 1 2009 2009
CUI: C3272802
Disease: Hamartomatous polyposis
Hamartomatous polyposis 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Disease or Syndrome 23 3 0.300 None 1.000 1 2015 2015
CUI: C0340543
Disease: Familial primary pulmonary hypertension
Familial primary pulmonary hypertension 		disease Respiratory Tract Diseases Disease or Syndrome 30 2 0.630 None 1.000 4 2011 2015
CUI: C4303092
Disease: Cystic echinococcosis
Cystic echinococcosis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms; Infections Disease or Syndrome 43 2 0.010 None 1.000 1 2014 2014
CUI: C0005938
Disease: Bone Density
Bone Density 		phenotype Clinical Attribute 138 654 0.100 None 1.000 1 1 2018 2018
CUI: C0020542
Disease: Pulmonary Hypertension
Pulmonary Hypertension 		phenotype Respiratory Tract Diseases Pathologic Function 156 0.200 None 1.000 1 2007 2007
CUI: C0152171
Disease: Idiopathic pulmonary hypertension
Idiopathic pulmonary hypertension 		disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 161 5 0.510 None 1.000 3 2009 2015
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		phenotype Finding 165 368 0.100 None 1.000 2 2 2019 2019
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		disease Finding 166 374 0.100 None 1.000 2 2 2019 2019
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		disease Finding 166 370 0.100 None 1.000 2 2 2019 2019
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		disease Finding 166 373 0.100 None 1.000 2 2 2019 2019
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		disease Digestive System Diseases; Neoplasms Neoplastic Process 173 375 0.100 None 1.000 2 2 2019 2019
CUI: C0282193
Disease: Iron Overload
Iron Overload 		disease Nutritional and Metabolic Diseases Disease or Syndrome 241 53 0.010 None 1.000 1 2019 2019
CUI: C0032584
Disease: polyps
polyps 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 390 18 0.010 None 1.000 1 1 2015 2015
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 413 70 0.420 None 0.667 3 2013 2015
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		disease Cardiovascular Diseases Disease or Syndrome 445 293 0.010 None 1.000 1 2 2019 2019