Source: CURATED ×
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: 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 1 13 0.740 None 1.000 8 13 2005 2020
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 6 19 2009 2020
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 3 11 2009 2017
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: 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 2 3 2008 2014
CUI: C0009676
Disease: Confusion
Confusion 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1 5 0.300 limited 1.000 1 2012 2012
CUI: C0233715
Disease: Speech impairment
Speech impairment 		phenotype Finding 1 2 0.300 limited 1.000 1 2012 2012
CUI: C0233754
Disease: Derealization
Derealization 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1 0.300 limited 1.000 1 2012 2012
CUI: C0562557
Disease: Sexually disinhibited behavior
Sexually disinhibited behavior 		phenotype Finding 1 0.300 limited 1.000 1 2012 2012
CUI: C0751226
Disease: Hypersomnia, Recurrent
Hypersomnia, Recurrent 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 1 0.300 limited 1.000 1 2012 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 1 4 2011 2019
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 1 2 2010 2012
CUI: C2700617
Disease: Irritation - emotion
Irritation - emotion 		phenotype Behavior and Behavior Mechanisms Mental Process 1 14 0.300 limited 1.000 1 2012 2012
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: C3711162
Disease: Metatropic Dysplasia Type 1
Metatropic Dysplasia Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2010 2010
CUI: C4552810
Disease: Irritability, CTCAE
Irritability, CTCAE 		phenotype Finding 1 0.300 limited 1.000 1 2012 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: C0022107
Disease: Irritable Mood
Irritable Mood 		phenotype Behavior and Behavior Mechanisms Finding 2 1 0.300 limited 1.000 1 2012 2012
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: C4551562
Disease: AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 2 6 0.300 None 1.000 1 2016 2016
CUI: C0751335
Disease: Scapuloperoneal Form of Spinal Muscular Atrophy
Scapuloperoneal Form of Spinal Muscular Atrophy 		disease Nervous System Diseases Disease or Syndrome 3 4 0.740 None 1.000 4 4 2003 2017
CUI: C0270765
Disease: Myelopathic Muscular Atrophy
Myelopathic Muscular Atrophy 		disease Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 1 2012 2012
CUI: C0393546
Disease: Oculopharyngeal Spinal Muscular Atrophy
Oculopharyngeal Spinal Muscular Atrophy 		disease Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 1 2012 2012
CUI: C0410480
Disease: Avascular Necrosis of Femur Head
Avascular Necrosis of Femur Head 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 3 0.500 None 1.000 1 2016 2016
CUI: C0751334
Disease: Progressive Proximal Myelopathic Muscular Atrophy
Progressive Proximal Myelopathic Muscular Atrophy 		disease Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 1 2012 2012