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: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 1 6 0.960 1.000 14 6 1989 2014
Spondyloepiphyseal dysplasia, congenita
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 9 7 0.900 0.973 44 7 1989 2016
CUI: C0542428
Disease: Hypochondrogenesis
Hypochondrogenesis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 2 7 0.870 1.000 15 6 1989 2008
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1
disease Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 32 38 0.800 strong 0.942 57 37 1988 2017
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases Congenital Abnormality 3 3 0.800 1.000 17 3 1952 2016
CUI: C0023234
Disease: Legg-Calve-Perthes Disease
Legg-Calve-Perthes Disease
disease Musculoskeletal Diseases Disease or Syndrome 18 2 0.750 1.000 6 1 2005 2015
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 12 6 0.730 1.000 8 5 1993 2017
CUI: C1836683
Disease: Czech dysplasia, metatarsal type
Czech dysplasia, metatarsal type
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 1 1 0.730 1.000 7 1 1994 2016
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 4 0.730 1.000 7 4 2000 2016
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE
disease Disease or Syndrome 1 2 0.710 moderate 1.000 5 2 1991 2016
Osteoarthritis with Mild Chondrodysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 1 0.700 5 1 1990 1998
CUI: C0410480
Disease: Avascular Necrosis of Femur Head
Avascular Necrosis of Femur Head
phenotype Musculoskeletal Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 8 3 0.700 3 3 2005 2011
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 1 0.700 1 1 1999 1999
Spondyloperipheral dysplasia short ulna
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 5 0.650 1.000 11 5 1996 2013
RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 5 0.610 1.000 7 5 1993 2008
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 518 42 0.610 strong 1.000 1 1993 1993
Stickler Syndrome, Type I, Nonsyndromic Ocular
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 7 0.600 6 7 1978 2008
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 36 3 0.600 limited 3 1 1993 2015
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
disease Musculoskeletal Diseases Disease or Syndrome 975 92 0.500 0.895 43 4 1993 2016
CUI: C0038015
Disease: Spondyloepiphyseal Dysplasia
Spondyloepiphyseal Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 25 11 0.500 1.000 25 11 1989 2016
CUI: C0432214
Disease: Namaqualand hip dysplasia
Namaqualand hip dysplasia
disease Congenital Abnormality 1 1 0.500 4 1 1990 1995
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment
disease Eye Diseases Disease or Syndrome 95 3 0.450 1.000 5 1993 2017
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 151 13 0.430 1.000 4 1 1993 2018
CUI: C0027092
Disease: Myopia
Myopia
disease Eye Diseases Disease or Syndrome 268 48 0.420 1.000 4 1 2007 2015
Sensorineural Hearing Loss (disorder)
disease Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 470 31 0.420 1.000 3 2005 2008