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: C0008924
Disease: Cleft upper lip
Cleft upper lip
165 253 134 0.28 87 0.32
CUI: C0025990
Disease: Micrognathism
Micrognathism
574 0 220 0.28 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
596 0 219 0.27 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
590 0 216 0.26 0 0
CUI: C0239234
Disease: Low set ears
Low set ears
489 0 166 0.22 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism
1039 0 260 0.21 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
773 0 213 0.21 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
1005 0 253 0.21 0 0
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
432 0 153 0.21 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
413 0 149 0.21 0 0
CUI: C0038379
Disease: Strabismus
Strabismus
682 0 195 0.21 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
574 0 174 0.21 0 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
208 0 111 0.20 0 0
CUI: C0033377
Disease: Ptosis
Ptosis
558 0 170 0.20 0 0
CUI: C0349588
Disease: Short stature
Short stature
1122 0 255 0.19 0 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
250 0 113 0.19 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly
855 0 211 0.19 0 0
Abnormality of cardiovascular system morphology
172 0 100 0.19 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
426 0 141 0.19 0 0
CUI: C0848558
Disease: Hypospadias
Hypospadias
266 0 115 0.19 0 0
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia
100 0 87 0.19 0 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
308 0 120 0.19 0 0
CUI: C0521525
Disease: Short neck
Short neck
288 0 115 0.19 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
496 0 146 0.18 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears
223 0 103 0.18 0 0