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: C1865014
Disease: Long philtrum
Long philtrum 		282 16 141 0.19 1 1.5E-02
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 22 144 0.19 3 4.2E-02
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 96 154 0.19 2 1.4E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 381 0.19 23 3.9E-02
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		285 44 137 0.19 4 4.3E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 152 0.18 4 4.8E-02
CUI: C3494422
Disease: Retrognathia
Retrognathia 		191 11 118 0.18 2 3.2E-02
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 0 136 0.18 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 36 128 0.18 4 4.7E-02
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		208 28 118 0.17 4 5.2E-02
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		225 12 120 0.17 1 1.6E-02
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 87 148 0.17 3 2.2E-02
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 12 111 0.17 3 4.8E-02
CUI: C0239676
Disease: High forehead
High forehead 		211 0 114 0.17 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 220 0.17 7 3.3E-02
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		235 0 116 0.16 0 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		337 0 129 0.16 0 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 0 107 0.16 0 0
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		1037 0 226 0.16 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 197 0.16 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 140 0.16 1 1.5E-03
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 14 120 0.16 3 4.7E-02
CUI: C0026034
Disease: Microstomia
Microstomia 		172 9 102 0.16 4 6.9E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 369 0.15 2 9.5E-03
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 108 0.15 0 0