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: C0025990
Disease: Micrognathism
Micrognathism 		586 0 1 1.4E-03 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 1 2.5E-03 1 8.6E-03
CUI: C1314691
Disease: Age at menarche
Age at menarche 		267 0 1 2.6E-03 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 0 1 2.6E-03 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 0 1 2.7E-03 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 0 1 2.7E-03 0 0
CUI: C0085636
Disease: Photophobia
Photophobia 		227 0 1 2.9E-03 0 0
CUI: C0086437
Disease: Joint laxity
Joint laxity 		224 0 1 2.9E-03 0 0
CUI: C0020608
Disease: Hypodontia
Hypodontia 		218 0 1 2.9E-03 0 0
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		217 0 1 3.0E-03 0 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 0 1 3.0E-03 0 0
CUI: C0239676
Disease: High forehead
High forehead 		211 0 1 3.0E-03 0 0
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		208 0 1 3.0E-03 0 0
CUI: C0596887
Disease: mathematical ability
mathematical ability 		854 0 3 3.1E-03 0 0
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		198 0 1 3.1E-03 0 0
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		196 0 1 3.2E-03 0 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 0 1 3.2E-03 0 0
CUI: C0152421
Disease: Macrotia
Macrotia 		188 0 1 3.2E-03 0 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 0 1 3.3E-03 0 0
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		176 0 1 3.4E-03 0 0
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE 		175 0 1 3.4E-03 0 0
CUI: C3714745
Disease: Malabsorption
Malabsorption 		175 0 1 3.4E-03 0 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		172 0 1 3.4E-03 0 0
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		171 0 1 3.4E-03 0 0
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		169 0 1 3.4E-03 0 0