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.
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
disease Disease or Syndrome 6 13 0.900 strong 1.000 25 13 2001 2017
Walker-Warburg congenital muscular dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 21 43 0.720 None 1.000 3 2003 2009
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 19 74 0.700 None 1.000 35 74 2001 2017
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3
disease Disease or Syndrome 1 12 0.700 strong 1.000 24 12 2001 2017
CUI: C4310704
Disease: RETINITIS PIGMENTOSA 76
RETINITIS PIGMENTOSA 76
disease Disease or Syndrome 1 13 0.700 strong 1.000 18 13 2001 2017
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 18 0.600 None 1.000 13 18 2001 2016
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 118 37 0.340 strong 0.750 4 2007 2012
CUI: C2936406
Disease: alpha-Dystroglycanopathies
alpha-Dystroglycanopathies
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 15 0.330 None 1.000 3 2010 2017
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.320 None 0.500 2 2016 2016
Fukuyama Type Congenital Muscular Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 35 29 0.320 None 1.000 2 2002 2003
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 14 15 0.300 None 0
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 14 16 0.300 None 0
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion
disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 33 49 0.200 None 1.000 2 2013 2016
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
disease Disease or Syndrome 7 13 0.200 None 1.000 2 2013 2016
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 63 10 0.200 None 1.000 2 2013 2016
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12
disease Disease or Syndrome 7 2 0.200 None 1.000 2 2013 2016
CUI: C0270962
Disease: Multi-core congenital myopathy
Multi-core congenital myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 16 0.200 None 1.000 2 2013 2016
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 7 15 0.200 None 1.000 2 2013 2016
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
disease Disease or Syndrome 6 21 0.200 None 1.000 2 2013 2016
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder)
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 44 110 0.200 None 1.000 2 2013 2016
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 47 42 0.200 None 1.000 2 2013 2016
CUI: C2875316
Disease: Myotubular (centronuclear) myopathy
Myotubular (centronuclear) myopathy
disease Congenital Abnormality 10 0.200 None 1.000 2 2013 2016
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4
disease Disease or Syndrome 6 3 0.200 None 1.000 2 2013 2016
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 280 67 0.170 None 1.000 7 2003 2016
Congenital muscular dystrophy (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 54 20 0.140 None 1.000 4 2003 2008