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: C0265281
Disease: Metatropic dwarfism
Metatropic dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1 19 0.800 None 1.000 15 19 2009 2020
CUI: C0432227
Disease: Brachyolmia Type 3
Brachyolmia Type 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 1 3 0.760 None 1.000 7 3 2008 2014
CUI: C0265280
Disease: Spondylometaphyseal dysplasia, Kozlowski type
Spondylometaphyseal dysplasia, Kozlowski type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 1 11 0.760 None 0.857 7 11 2009 2017
CUI: C1853710
Disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 13 0.740 None 1.000 37 13 2005 2020
CUI: C0751335
Disease: Scapuloperoneal Form of Spinal Muscular Atrophy
Scapuloperoneal Form of Spinal Muscular Atrophy 		disease Nervous System Diseases Disease or Syndrome 3 5 0.740 None 1.000 7 5 2003 2017
CUI: C1868616
Disease: Parastremmatic dwarfism
Parastremmatic dwarfism 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Congenital Abnormality 1 2 0.730 None 1.000 3 2 2010 2012
CUI: C1847406
Disease: Digital Arthropathy-Brachydactyly, Familial
Digital Arthropathy-Brachydactyly, Familial 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 4 0.710 None 1.000 2 4 2011 2019
CUI: C3159322
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE
SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 5 0.710 None 1.000 1 5 2010 2010
CUI: C1838492
Disease: SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder) 		disease Nervous System Diseases Disease or Syndrome 1 6 0.700 None 1.000 3 6 2010 2012
CUI: C3150755
Disease: SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1
SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1 		phenotype Finding 1 1 0.600 moderate 0 1
CUI: C0410480
Disease: Avascular Necrosis of Femur Head
Avascular Necrosis of Femur Head 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 74 20 0.500 None 1.000 1 2016 2016
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 207 26 0.470 None 1.000 8 2008 2017
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		disease Nervous System Diseases Disease or Syndrome 320 33 0.450 None 1.000 6 2010 2016
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 208 136 0.430 None 1.000 4 4 2003 2015
CUI: C0038015
Disease: Spondyloepiphyseal Dysplasia
Spondyloepiphyseal Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 29 0.410 None 1.000 2 2008 2010
CUI: C4479260
Disease: AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2 		disease Disease or Syndrome 2 1 0.400 None 1.000 1 1 2016 2016
CUI: C2936719
Disease: Mechanical Allodynia
Mechanical Allodynia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 408 4 0.380 None 1.000 9 2007 2019
CUI: C0393541
Disease: Distal Spinal Muscular Atrophy
Distal Spinal Muscular Atrophy 		disease Nervous System Diseases Disease or Syndrome 16 8 0.350 None 1.000 6 2 2003 2020
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.340 None 1.000 5 2011 2019
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		disease Respiratory Tract Diseases Disease or Syndrome 1428 852 0.330 None 1.000 4 2009 2011
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 451 4 0.330 None 1.000 4 2008 2018
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 48 144 0.320 None 1.000 3 1997 2020
CUI: C0005940
Disease: Bone Diseases
Bone Diseases 		group Musculoskeletal Diseases Disease or Syndrome 317 10 0.310 None 1.000 3 2011 2016
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.310 limited 1.000 2 2012 2018
CUI: C0020625
Disease: Hyponatremia
Hyponatremia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 109 11 0.310 None 1.000 1 1 2009 2009