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: C3150417
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3
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
CUI: C3151519
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
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: C1854685
Disease: Hypoplasia of the retina
Hypoplasia of the retina 		disease Congenital Abnormality 1 0.100 None 0
CUI: C4021558
Disease: Enlarged flash visual evoked potentials
Enlarged flash visual evoked potentials 		phenotype Finding 1 0.100 None 0
CUI: C1854689
Disease: Short nasal bridge
Short nasal bridge 		phenotype Finding 2 0.100 None 0
CUI: C1719838
Disease: Peripapillary atrophy
Peripapillary atrophy 		phenotype Finding 4 0.100 None 0
CUI: C3150412
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
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
CUI: C2751052
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4
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: C3150415
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
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: C1866131
Disease: Fusion of the cerebellar hemispheres
Fusion of the cerebellar hemispheres 		phenotype Finding 6 0.100 None 0
CUI: C3150416
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2
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
CUI: C3809221
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
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: C4015184
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 		disease Disease or Syndrome 7 2 0.200 None 1.000 2 2013 2016
CUI: C1854686
Disease: Uncontrolled eye movements
Uncontrolled eye movements 		phenotype Finding 7 0.100 None 0
CUI: C4022771
Disease: Decreased thalamic volume
Decreased thalamic volume 		phenotype Finding 7 0.100 None 0
CUI: C2875316
Disease: Myotubular (centronuclear) myopathy
Myotubular (centronuclear) myopathy 		disease Congenital Abnormality 10 0.200 None 1.000 2 2013 2016
CUI: C4015098
Disease: Hypoglycosylation of alpha-dystroglycan
Hypoglycosylation of alpha-dystroglycan 		phenotype Finding 10 0.100 None 0
CUI: C4022646
Disease: Reduced muscle fiber alpha dystroglycan
Reduced muscle fiber alpha dystroglycan 		phenotype Finding 10 0.100 None 0
CUI: C1859341
Disease: Olivopontocerebellar hypoplasia
Olivopontocerebellar hypoplasia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Finding 11 6 0.100 None 0
CUI: C3549703
Disease: Retinal thinning
Retinal thinning 		phenotype Finding 11 0.100 None 0
CUI: C1847117
Disease: Dilated fourth ventricle
Dilated fourth ventricle 		phenotype Finding 13 1 0.100 None 0
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
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
CUI: C1847762
Disease: Cerebellar cyst
Cerebellar cyst 		phenotype Finding 14 3 0.100 None 0
CUI: C4284790
Disease: Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
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