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: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		285 0 1 2.3E-03 0 0
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		284 0 1 2.3E-03 0 0
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		272 0 1 2.4E-03 0 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 0 1 2.7E-03 0 0
CUI: C0085636
Disease: Photophobia
Photophobia 		227 0 1 2.7E-03 0 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		219 0 1 2.8E-03 0 0
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		213 0 1 2.8E-03 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 0 2 2.8E-03 0 0
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		205 0 1 2.9E-03 0 0
CUI: C0234146
Disease: Absent reflex
Absent reflex 		201 0 1 2.9E-03 0 0
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		198 0 1 2.9E-03 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 0 2 2.9E-03 0 0
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		194 0 1 3.0E-03 0 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 0 1 3.0E-03 0 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		190 0 1 3.0E-03 0 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 0 1 3.0E-03 0 0
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion 		188 0 1 3.0E-03 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 0 1 3.1E-03 0 0
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		181 0 1 3.1E-03 0 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 0 1 3.1E-03 0 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 0 1 3.1E-03 0 0
CUI: C0085633
Disease: Mood swings
Mood swings 		171 0 1 3.2E-03 0 0
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		168 0 1 3.2E-03 0 0
CUI: C1854494
Disease: Slow progression
Slow progression 		165 0 1 3.2E-03 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 3 3.3E-03 0 0