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 53 281 0.35 6 5.1E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 245 0.29 7 5.0E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 199 0.28 3 3.1E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 215 0.25 7 5.8E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 191 0.24 10 8.1E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 257 0.24 18 9.6E-02
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 210 0.23 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 261 0.21 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 209 0.21 10 6.7E-02
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 36 132 0.21 4 3.9E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 205 0.20 2 1.4E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 155 0.20 6 6.5E-02
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 270 0.20 7 2.0E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 145 0.20 8 7.2E-02
CUI: C0086437
Disease: Joint laxity
Joint laxity 		224 15 112 0.18 1 1.2E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 143 0.18 4 3.8E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 224 0.18 13 5.9E-02
CUI: C0521525
Disease: Short neck
Short neck 		288 29 121 0.18 4 4.2E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 225 0.18 10 1.6E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 270 0.18 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 118 0.18 2 1.9E-02
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 16 116 0.17 2 2.4E-02
CUI: C0848558
Disease: Hypospadias
Hypospadias 		366 0 125 0.17 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 226 0.17 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 22 116 0.17 4 4.5E-02