Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		50 0 1 2.2E-03 0 0
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		50 0 1 2.2E-03 0 0
CUI: C0240479
Disease: Neck muscle weakness
Neck muscle weakness 		49 0 1 2.2E-03 0 0
CUI: C0431890
Disease: Hypoplasia of thumb
Hypoplasia of thumb 		49 0 1 2.2E-03 0 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		49 0 1 2.2E-03 0 0
CUI: C0023980
Disease: Longevity
Longevity 		48 0 1 2.2E-03 0 0
CUI: C0032987
Disease: Ectopic Pregnancy
Ectopic Pregnancy 		48 0 1 2.2E-03 0 0
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		48 0 1 2.2E-03 0 0
CUI: C0086439
Disease: Hypokinesia
Hypokinesia 		47 0 1 2.2E-03 0 0
CUI: C0920299
Disease: Overriding toe
Overriding toe 		47 0 1 2.2E-03 0 0
CUI: C1855925
Disease: Hyperopia, High
Hyperopia, High 		47 0 1 2.2E-03 0 0
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		46 0 1 2.2E-03 0 0
CUI: C4024926
Disease: Focal T2 hyperintense basal ganglia lesion
Focal T2 hyperintense basal ganglia lesion 		46 0 1 2.2E-03 0 0
CUI: C1837402
Disease: Flat occiput
Flat occiput 		45 0 1 2.2E-03 0 0
CUI: C1846149
Disease: Intellectual disability, progressive
Intellectual disability, progressive 		45 0 1 2.2E-03 0 0
CUI: C1849488
Disease: Increased serum pyruvate
Increased serum pyruvate 		45 0 1 2.2E-03 0 0
CUI: C0015930
Disease: Fetal Distress
Fetal Distress 		44 0 1 2.2E-03 0 0
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness 		44 0 1 2.2E-03 0 0
CUI: C0266387
Disease: Bicornuate uterus
Bicornuate uterus 		44 0 1 2.2E-03 0 0
CUI: C0332615
Disease: Myopathic facies
Myopathic facies 		44 0 1 2.2E-03 0 0
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		44 0 1 2.2E-03 0 0
CUI: C0085623
Disease: Akinesia
Akinesia 		43 0 1 2.2E-03 0 0
CUI: C0152191
Disease: Scotoma, Central
Scotoma, Central 		43 0 1 2.2E-03 0 0
CUI: C0266399
Disease: Infantile uterus
Infantile uterus 		43 0 1 2.2E-03 0 0
CUI: C0042928
Disease: Vocal Cord Paralysis
Vocal Cord Paralysis 		42 0 1 2.2E-03 0 0