Source: INFERRED ×
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: C0013336
Disease: Dwarfism
Dwarfism 		1039 13 422 0.30 2 1.5E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1005 0 409 0.30 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		574 52 300 0.29 5 3.0E-02
CUI: C0349588
Disease: Short stature
Short stature 		1122 292 422 0.29 11 2.7E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		596 47 290 0.27 4 2.5E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 282 0.26 3 1.5E-02
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		252 10 210 0.26 1 7.8E-03
CUI: C0038379
Disease: Strabismus
Strabismus 		682 85 296 0.26 6 3.0E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		496 66 253 0.25 18 0.11
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		1259 0 404 0.25 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		259 35 200 0.24 7 4.7E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1458 505 432 0.24 24 4.0E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		574 49 253 0.23 4 2.4E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		954 579 323 0.23 13 1.9E-02
CUI: C0033377
Disease: Ptosis
Ptosis 		558 0 248 0.23 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		855 0 288 0.21 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		413 30 209 0.21 2 1.4E-02
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		446 0 213 0.21 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		942 164 298 0.21 5 1.8E-02
CUI: C0036572
Disease: Seizures
Seizures 		1292 417 356 0.21 22 4.3E-02
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		297 24 182 0.20 2 1.4E-02
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		426 32 201 0.20 2 1.3E-02
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		407 0 197 0.20 0 0
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		432 0 199 0.20 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 206 0.20 1 5.5E-03