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: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 46 8.5E-02 2 5.0E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 0 52 8.4E-02 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 0 36 8.4E-02 0 0
CUI: C0221210
Disease: Congenital malrotation of intestine
Congenital malrotation of intestine 		77 0 20 8.3E-02 0 0
CUI: C0266544
Disease: Microcornea
Microcornea 		129 0 24 8.3E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 88 8.3E-02 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 94 33 8.2E-02 2 2.0E-02
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		135 0 24 8.2E-02 0 0
CUI: C0152427
Disease: Polydactyly
Polydactyly 		188 0 28 8.2E-02 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 43 38 8.1E-02 1 2.0E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 45 8.0E-02 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 88 8.0E-02 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 0 33 8.0E-02 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 95 7.8E-02 1 3.4E-03
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		176 0 26 7.8E-02 0 0
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		163 0 25 7.8E-02 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 0 32 7.8E-02 0 0
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		192 26 27 7.8E-02 2 6.5E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 44 7.7E-02 0 0
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 28 7.7E-02 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 0 65 7.7E-02 0 0
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		197 0 27 7.6E-02 0 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		367 0 39 7.6E-02 0 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		340 0 37 7.6E-02 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 0 44 7.6E-02 0 0