SMAD6, SMAD family member 6, 4091

N. diseases: 93; N. variants: 26
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: C3542024
Disease: AORTIC VALVE DISEASE 2
AORTIC VALVE DISEASE 2
disease Disease or Syndrome 2 20 0.700 None 1.000 2 4 2012 2019
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve
disease Cardiovascular Diseases Congenital Abnormality 154 23 0.650 None 1.000 6 2012 2019
CUI: C4479496
Disease: CRANIOSYNOSTOSIS 7
CRANIOSYNOSTOSIS 7
disease Disease or Syndrome 1 4 0.500 strong 1.000 2 4 2016 2017
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 43 8 0.500 strong 1.000 1 2017 2017
CUI: C1860819
Disease: Metopic synostosis
Metopic synostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 28 5 0.500 strong 1.000 1 2017 2017
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 488 90 0.440 None 1.000 4 2018 2020
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 6 25 0.400 None 1.000 1 7 2012 2012
CUI: C0428791
Disease: Aortic valve calcification
Aortic valve calcification
disease Nutritional and Metabolic Diseases; Cardiovascular Diseases Disease or Syndrome 79 4 0.400 None 1.000 1 2012 2012
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 67 0.320 strong 1.000 2 2019 2019
CUI: C1260873
Disease: Aortic valve disorder
Aortic valve disorder
disease Cardiovascular Diseases Disease or Syndrome 58 0.300 None 1.000 1 2012 2012
CUI: C0030044
Disease: Acrocephaly
Acrocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 35 0.300 None 0
CUI: C4551902
Disease: Craniosynostosis, Type 1
Craniosynostosis, Type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 18 28 0.300 None 0
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 20 0.300 None 0
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 52 7 0.300 None 0
Familial thoracic aortic aneurysm and aortic dissection
disease Disease or Syndrome 59 442 0.300 limited 0
CUI: C1833340
Disease: Synostotic Posterior Plagiocephaly
Synostotic Posterior Plagiocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 25 0.300 None 0
CUI: C2931150
Disease: Synostotic Anterior Plagiocephaly
Synostotic Anterior Plagiocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 16 0.300 None 0
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1189 238 0.200 None 1.000 1 2007 2007
CUI: C0027697
Disease: Nephritis
Nephritis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 296 40 0.200 None 1.000 1 2000 2000
CUI: C0020542
Disease: Pulmonary Hypertension
Pulmonary Hypertension
phenotype Respiratory Tract Diseases Pathologic Function 156 0.200 None 1.000 1 2007 2007
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.110 None 1.000 1 2016 2016
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm
disease Cardiovascular Diseases Disease or Syndrome 278 19 0.110 None 1.000 1 2019 2019
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
phenotype Organism Attribute 565 1138 0.100 None 1.000 4 2 2015 2019
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
disease Finding 166 373 0.100 None 1.000 2 2 2019 2019
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
disease Finding 166 370 0.100 None 1.000 2 2 2019 2019