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: 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
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: C1096249
Disease: Calcification of the aorta
Calcification of the aorta
phenotype Pathologic Function 21 0.100 None 0
CUI: C0856748
Disease: Aneurysm of aortic arch
Aneurysm of aortic arch
disease Cardiovascular Diseases Disease or Syndrome 20 0.100 None 0
CUI: C1836653
Disease: Ascending aortic dissection
Ascending aortic dissection
phenotype Cardiovascular Diseases Disease or Syndrome 25 1 0.100 None 0
CUI: C1969292
Disease: Thoracic aorta calcification
Thoracic aorta calcification
phenotype Finding 4 0.100 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
Delayed speech and language development
phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 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: C0030044
Disease: Acrocephaly
Acrocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 35 0.300 None 0
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: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency
disease Cardiovascular Diseases Disease or Syndrome 377 8 0.100 None 0
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
disease Cardiovascular Diseases Disease or Syndrome 234 19 0.100 None 0
CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO
phenotype Finding 1 3 0.100 None 0 3
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: C0152101
Disease: Hypoplastic Left Heart Syndrome
Hypoplastic Left Heart Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 52 7 0.100 None 0
CUI: C0018808
Disease: Heart murmur
Heart murmur
phenotype Pathological Conditions, Signs and Symptoms Finding 31 10 0.100 None 0
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 1999 1999
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2667 277 0.010 None 1.000 1 1999 1999
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2689 322 0.010 None 1.000 1 1999 1999
CUI: C0007097
Disease: Carcinoma
Carcinoma
group Neoplasms Neoplastic Process 2462 103 0.010 None 1.000 1 1999 1999
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: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2563 315 0.010 None 1.000 1 2000 2000
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease
group Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 221 7 0.010 None 1.000 1 2002 2002