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: C0020224
Disease: Polyhydramnios
Polyhydramnios 		208 28 107 0.18 5 5.7E-02
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 22 121 0.18 2 2.4E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 352 0.18 17 2.8E-02
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 22 122 0.18 3 3.6E-02
CUI: C0026034
Disease: Microstomia
Microstomia 		172 9 97 0.17 3 4.3E-02
CUI: C1836047
Disease: Long face
Long face 		182 12 97 0.17 2 2.7E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 111 0.17 6 6.2E-02
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 43 114 0.16 1 9.4E-03
CUI: C3494422
Disease: Retrognathia
Retrognathia 		191 0 95 0.16 0 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 87 127 0.16 5 3.4E-02
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 96 121 0.16 5 3.2E-02
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 25 96 0.16 5 6.0E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 130 0.16 4 3.3E-02
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 16 95 0.16 4 5.3E-02
CUI: C0848558
Disease: Hypospadias
Hypospadias 		366 0 115 0.16 0 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 12 91 0.15 3 4.1E-02
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 95 0.15 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 94 0.15 0 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		367 0 113 0.15 0 0
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 14 82 0.15 4 5.4E-02
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 0 99 0.15 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 344 0.15 0 0
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		225 0 92 0.15 0 0
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		473 37 123 0.15 4 4.1E-02
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		159 25 81 0.14 7 8.5E-02