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: C0376154
Disease: Skin callus
Skin callus 		disease Skin and Connective Tissue Diseases Acquired Abnormality 154 0.010 None 1.000 1 2019 2019
CUI: C0042834
Disease: Vital capacity
Vital capacity 		phenotype Clinical Attribute 430 746 0.100 None 1.000 1 1 2019 2019
CUI: C0424678
Disease: Lean body mass
Lean body mass 		phenotype Clinical Attribute 144 211 0.100 None 1.000 1 1 2019 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: 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: C0039093
Disease: Congenital abnormal Synostosis
Congenital abnormal Synostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 25 7 0.010 None 1.000 1 2017 2017
CUI: C0259779
Disease: Fibrous Dysplasia
Fibrous Dysplasia 		disease Congenital Abnormality 53 5 0.010 None 1.000 1 2012 2012
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: C3665496
Disease: Congenital anomaly of cardiovascular system (disorder)
Congenital anomaly of cardiovascular system (disorder) 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 2 0.010 None 1.000 1 2012 2012
CUI: C0003492
Disease: Aortic coarctation
Aortic coarctation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 88 6 0.100 None 0
CUI: C0030044
Disease: Acrocephaly
Acrocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 35 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
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: 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: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 254 56 0.020 None 1.000 2 2013 2014
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: C4479496
Disease: CRANIOSYNOSTOSIS 7
CRANIOSYNOSTOSIS 7 		disease Disease or Syndrome 1 4 0.500 strong 1.000 2 4 2016 2017
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		disease Cardiovascular Diseases Disease or Syndrome 278 19 0.110 None 1.000 1 2019 2019
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome 		disease Nervous System Diseases; Wounds and Injuries Disease or Syndrome 87 46 0.100 None 1.000 1 1 2019 2019
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: C0016063
Disease: Osteitis Fibrosa Disseminata
Osteitis Fibrosa Disseminata 		disease Musculoskeletal Diseases Disease or Syndrome 19 0.010 None 1.000 1 2012 2012
CUI: C0018621
Disease: Hay fever
Hay fever 		disease Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 114 42 0.010 None 1.000 1 2007 2007
CUI: C0018799
Disease: Heart Diseases
Heart Diseases 		group Cardiovascular Diseases Disease or Syndrome 537 45 0.010 None 1.000 1 2017 2017