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: C1842688
Disease: Hypoplasia of the brainstem
Hypoplasia of the brainstem 		55 0 1 1.5E-03 0 0
CUI: C0236664
Disease: Alcohol-Related Disorders
Alcohol-Related Disorders 		54 0 1 1.5E-03 0 0
CUI: C1306620
Disease: Systolic blood pressure measurement
Systolic blood pressure measurement 		54 0 1 1.5E-03 0 0
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement 		53 0 1 1.5E-03 0 0
CUI: C1839546
Disease: Microretrognathia
Microretrognathia 		53 0 1 1.5E-03 0 0
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges 		52 0 1 1.5E-03 0 0
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs 		51 0 1 1.5E-03 0 0
CUI: C1611184
Disease: Calcification of coronary artery
Calcification of coronary artery 		51 0 1 1.5E-03 0 0
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		51 0 1 1.5E-03 0 0
CUI: C0427144
Disease: Toe-walking gait
Toe-walking gait 		50 0 1 1.5E-03 0 0
CUI: C0575059
Disease: Spastic tetraparesis
Spastic tetraparesis 		50 0 1 1.5E-03 0 0
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		50 0 1 1.5E-03 0 0
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		50 0 1 1.5E-03 0 0
CUI: C0240479
Disease: Neck muscle weakness
Neck muscle weakness 		49 0 1 1.5E-03 0 0
CUI: C0431890
Disease: Hypoplasia of thumb
Hypoplasia of thumb 		49 0 1 1.5E-03 0 0
CUI: C1836450
Disease: Distal lower limb muscle weakness
Distal lower limb muscle weakness 		49 0 1 1.5E-03 0 0
CUI: C2237660
Disease: exudative macular degeneration
exudative macular degeneration 		49 0 1 1.5E-03 0 0
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		48 0 1 1.5E-03 0 0
CUI: C0401149
Disease: Chronic constipation
Chronic constipation 		47 0 1 1.5E-03 0 0
CUI: C0920299
Disease: Overriding toe
Overriding toe 		47 0 1 1.5E-03 0 0
CUI: C0015930
Disease: Fetal Distress
Fetal Distress 		44 0 1 1.5E-03 0 0
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness 		44 0 1 1.5E-03 0 0
CUI: C0332615
Disease: Myopathic facies
Myopathic facies 		44 0 1 1.5E-03 0 0
CUI: C0427055
Disease: Facial Paresis
Facial Paresis 		44 0 1 1.5E-03 0 0
CUI: C0085623
Disease: Akinesia
Akinesia 		43 0 1 1.5E-03 0 0