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: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 72 379 1.000 definitive 0.957 412 375 1973 2018
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 3 2 0.900 1.000 14 1 1997 2017
Weill-Marchesani Syndrome, Autosomal Dominant
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 3 7 0.810 1.000 3 7 2003 2015
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 5 12 0.750 1.000 8 12 1991 2016
CUI: C1861456
Disease: Stiff Skin Syndrome
Stiff Skin Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1 10 0.730 1.000 6 10 1991 2016
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 26 7 0.700 1.000 34 4 1994 2016
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic
disease Cardiovascular Diseases Disease or Syndrome 98 66 0.700 strong 1.000 12 37 1997 2017
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME
disease Disease or Syndrome 1 10 0.700 9 10 2011 2017
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 7 2 0.570 1.000 7 1 2011 2016
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
disease Disease or Syndrome 1 3 0.500 5 3 1994 2007
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
disease Digestive System Diseases Disease or Syndrome 682 71 0.500 2 2004 2016
Weill-Marchesani Syndrome, Autosomal Recessive
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 3 8 0.500 1 2012 2012
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 65 2 0.460 1.000 8 2 1995 2017
CUI: C1851286
Disease: Ectopia lentis isolated
Ectopia lentis isolated
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 5 9 0.450 1.000 17 9 1994 2015
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE
disease Cardiovascular Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 12 11 0.440 1.000 7 7 1989 2016
CUI: C3280054
Disease: GELEOPHYSIC DYSPLASIA 2
GELEOPHYSIC DYSPLASIA 2
disease Disease or Syndrome 1 10 0.410 1.000 6 10 1991 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.410 strong 1.000 4 2006 2014
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 213 37 0.410 limited 1.000 1 1 1996 1996
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 518 42 0.400 limited 0
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 1309 447 0.340 1.000 5 1 2006 2015
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Congenital Abnormality; Disease or Syndrome 7 15 0.330 1.000 3 1996 2007
Congenital aneurysm of ascending aorta
disease Cardiovascular Diseases Congenital Abnormality 57 3 0.320 strong 1.000 2 2001 2002
CUI: C0003496
Disease: Aortic Rupture
Aortic Rupture
disease Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome 18 0.310 1.000 2 2008 2017
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 487 37 0.310 1.000 1 2010 2010
CUI: C2746069
Disease: Familial ectopia lentis
Familial ectopia lentis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 2 0.310 1.000 1 1998 1998