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: C4540096
Disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA
MYOPATHY, MITOCHONDRIAL, AND ATAXIA 		disease Disease or Syndrome 1 6 0.700 strong 1.000 3 6 2017 2018
CUI: C4021945
Disease: Abnormality of globe size
Abnormality of globe size 		phenotype Anatomical Abnormality 2 1 0.100 None 0
CUI: C4054911
Disease: Fusion-Positive Rhabdomyosarcoma
Fusion-Positive Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 6 0.010 None 1.000 1 2018 2018
CUI: C1968729
Disease: Increased muscle glycogen content
Increased muscle glycogen content 		phenotype Finding 6 0.100 None 0
CUI: C4054912
Disease: Fusion-Positive Alveolar Rhabdomyosarcoma
Fusion-Positive Alveolar Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 7 0.010 None 1.000 1 2018 2018
CUI: C0454642
Disease: Receptive language delay
Receptive language delay 		disease Mental or Behavioral Dysfunction 9 5 0.100 None 0 2
CUI: C4551715
Disease: Pigmentary retinopathy
Pigmentary retinopathy 		disease Disease or Syndrome 11 0.030 None 1.000 3 2018 2020
CUI: C1851085
Disease: Severe expressive language delay
Severe expressive language delay 		disease Mental or Behavioral Dysfunction 11 7 0.100 None 0 2
CUI: C2938912
Disease: Hyperintensity of cerebral white matter on MRI
Hyperintensity of cerebral white matter on MRI 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 15 1 0.100 None 0
CUI: C4073184
Disease: Thick hair
Thick hair 		phenotype Finding 16 3 0.100 None 0
CUI: C1836479
Disease: Saccadic smooth pursuit
Saccadic smooth pursuit 		phenotype Finding 22 5 0.100 None 0 2
CUI: C4020730
Disease: Increased intramyocellular lipid droplets
Increased intramyocellular lipid droplets 		phenotype Finding 27 0.100 None 0
CUI: C0020580
Disease: Hypesthesia
Hypesthesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 33 6 0.100 None 0
CUI: C0745730
Disease: Multiple lipomata
Multiple lipomata 		disease Neoplasms Neoplastic Process 38 0.100 None 0
CUI: C1836696
Disease: Lower limb hyperreflexia
Lower limb hyperreflexia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 38 6 0.100 None 0 2
CUI: C0234518
Disease: Slurred speech
Slurred speech 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 39 10 0.100 None 0 2
CUI: C0457949
Disease: Chronic low back pain
Chronic low back pain 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 43 3 0.010 None 1.000 1 2018 2018
CUI: C0332615
Disease: Myopathic facies
Myopathic facies 		phenotype Finding 44 15 0.100 None 0
CUI: C0427055
Disease: Facial Paresis
Facial Paresis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases Sign or Symptom 44 2 0.100 None 0
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity 		phenotype Finding 44 6 0.100 None 0
CUI: C0234979
Disease: Dysdiadochokinesis
Dysdiadochokinesis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 49 7 0.100 None 0
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		phenotype Finding 50 4 0.100 None 0
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 54 20 0.010 None 1.000 1 2019 2019
CUI: C0234182
Disease: Gowers sign
Gowers sign 		phenotype Finding 54 8 0.100 None 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 59 4 0.100 None 0 2