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: C0023931
Disease: Lobstein Disease
Lobstein Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 9 137 1.000 0.963 88 102 1989 2018
Osteogenesis imperfecta type III (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 12 50 0.960 1.000 26 16 1989 2016
Osteogenesis imperfecta type IV (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Congenital Abnormality; Disease or Syndrome 12 46 0.960 1.000 22 15 1989 2016
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Congenital Abnormality; Disease or Syndrome 203 47 0.900 strong 0.975 142 31 1975 2018
Osteogenesis imperfecta, dominant perinatal lethal
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Congenital Abnormality; Disease or Syndrome 8 29 0.880 1.000 41 2 1986 2016
CUI: C0020497
Disease: Cortical Congenital Hyperostosis
Cortical Congenital Hyperostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 4 0.750 1.000 7 3 1993 2015
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 3 3 0.610 1.000 4 2 1984 1991
CUI: C0268335
Disease: Ehlers-Danlos syndrome type 1
Ehlers-Danlos syndrome type 1
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 6 52 0.600 1 2 2000 2000
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 104 8 0.590 strong 1.000 19 4 1989 2017
CUI: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans
disease Neoplastic Process 31 0.400 0.959 49 1997 2018
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
disease Musculoskeletal Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 440 82 0.400 1.000 24 1 1996 2014
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
disease Digestive System Diseases Disease or Syndrome 682 71 0.310 1.000 5 2009 2016
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
disease Digestive System Diseases Disease or Syndrome 544 31 0.310 1.000 5 2011 2016
CUI: C0029172
Disease: Oral Submucous Fibrosis
Oral Submucous Fibrosis
disease Stomatognathic Diseases Disease or Syndrome 43 0.310 1.000 2 2002 2007
CUI: C0022548
Disease: Keloid
Keloid
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Acquired Abnormality 170 8 0.310 1.000 2 1993 2011
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 181 8 0.310 1.000 2 1993 2016
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
disease Digestive System Diseases Experimental Model of Disease 800 0.300 3 2015 2016
Congenital aneurysm of ascending aorta
disease Cardiovascular Diseases Congenital Abnormality 57 3 0.300 strong 2 2004 2016
CUI: C4225429
Disease: Ehlers-Danlos syndrome classic type
Ehlers-Danlos syndrome classic type
disease Disease or Syndrome 3 2 0.300 2 2000 2007
CUI: C0008311
Disease: Cholangitis
Cholangitis
disease Digestive System Diseases Disease or Syndrome 33 1 0.300 1 2015 2015
CUI: C1619692
Disease: Nephrogenic Fibrosing Dermopathy
Nephrogenic Fibrosing Dermopathy
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 8 0.300 1 2010 2010
CUI: C0521174
Disease: Microcalcification
Microcalcification
phenotype Nutritional and Metabolic Diseases Pathologic Function 40 0.300 1 2011 2011
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 432 48 0.300 1 2010 2010
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy
disease Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 202 30 0.300 1 2001 2001
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 1309 447 0.300 1 2001 2001