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.
Walker-Warburg congenital muscular dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 21 43 0.620 strong 1.000 3 2012 2015
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8
disease Disease or Syndrome 3 5 0.600 None 1.000 2 4 2012 2015
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8
disease Disease or Syndrome 1 2 0.400 None 1.000 1 2 2015 2015
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 0.300 strong 1.000 1 2015 2015
Fukuyama Type Congenital Muscular Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 35 29 0.300 None 0
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 0.300 None 0
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: C2936406
Disease: alpha-Dystroglycanopathies
alpha-Dystroglycanopathies
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 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: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 280 67 0.110 None 1.000 1 2012 2012
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease Nervous System Diseases Disease or Syndrome 473 37 0.110 None 1.000 1 2012 2012
CUI: C0024530
Disease: Malaria
Malaria
disease Infections Disease or Syndrome 685 148 0.100 None 1.000 1 1 2009 2009
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 3111 6892 0.100 None 1.000 1 11 2017 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C4551488
Disease: Bifid uvula
Bifid uvula
disease Congenital Abnormality 97 7 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy
phenotype Pathologic Function 306 12 0.100 None 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0
CUI: C0432103
Disease: Submucous cleft of hard palate
Submucous cleft of hard palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 55 3 0.100 None 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear
disease Congenital Abnormality 176 23 0.100 None 0
CUI: C0431376
Disease: Cobblestone Lissencephaly
Cobblestone Lissencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 23 0.100 None 0
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 84 2 0.100 None 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group Eye Diseases Disease or Syndrome 219 227 0.100 None 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly
phenotype Nervous System Diseases Finding 410 0.100 None 0
CUI: C4082144
Disease: Metatarsal Valgus
Metatarsal Valgus
disease Musculoskeletal Diseases Anatomical Abnormality 22 0.100 None 0
Aplasia/Hypoplasia involving the skeletal musculature
phenotype Finding 19 0.100 None 0