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: C0265514
Disease: Dermatofibrosis lenticularis disseminata
Dermatofibrosis lenticularis disseminata 		0 3 0 0 1 0.17
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 1 1.8E-03 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 0 1 2.2E-03 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 0 1 2.3E-03 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 0 1 2.4E-03 0 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 0 1 2.5E-03 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 0 1 2.5E-03 0 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 0 1 2.5E-03 0 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		219 0 1 2.6E-03 0 0
CUI: C0020608
Disease: Hypodontia
Hypodontia 		218 0 1 2.6E-03 0 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 0 1 2.6E-03 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 1 2.6E-03 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 0 1 2.6E-03 0 0
CUI: C0234146
Disease: Absent reflex
Absent reflex 		201 0 1 2.7E-03 0 0
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		197 0 1 2.7E-03 0 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 0 1 2.7E-03 0 0
CUI: C3494422
Disease: Retrognathia
Retrognathia 		191 0 1 2.8E-03 0 0
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		186 0 1 2.8E-03 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 0 1 2.8E-03 0 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 0 1 2.8E-03 0 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 0 1 2.9E-03 0 0
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		169 0 1 2.9E-03 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 1 2.9E-03 0 0
CUI: C1854494
Disease: Slow progression
Slow progression 		165 0 1 3.0E-03 0 0
CUI: C0403823
Disease: Asthenozoospermia
Asthenozoospermia 		164 0 1 3.0E-03 0 0