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: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
295 70 211 0.30 51 0.29
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
190 75 181 0.29 51 0.28
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
255 282 188 0.28 108 0.33
CUI: C0025990
Disease: Micrognathism
Micrognathism
586 0 241 0.25 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
590 0 233 0.24 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
725 0 236 0.21 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
1010 0 270 0.20 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
850 0 237 0.19 0 0
CUI: C0038379
Disease: Strabismus
Strabismus
716 89 210 0.19 1 4.1E-03
CUI: C0239234
Disease: Low set ears
Low set ears
489 0 174 0.19 0 0
CUI: C0349588
Disease: Short stature
Short stature
1127 0 273 0.19 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism
1261 0 294 0.19 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
595 57 184 0.18 2 9.4E-03
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
417 0 154 0.18 0 0
CUI: C0033377
Disease: Ptosis
Ptosis
607 12 182 0.18 2 1.2E-02
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
1098 73 248 0.17 3 1.3E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
426 0 150 0.17 0 0
CUI: C0848558
Disease: Hypospadias
Hypospadias
366 80 141 0.17 1 4.2E-03
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
384 96 141 0.17 1 4.0E-03
CUI: C0025958
Disease: Microcephaly
Microcephaly
1064 0 236 0.16 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
497 0 155 0.16 0 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
337 0 131 0.16 0 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
426 87 143 0.16 1 4.1E-03
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
407 0 138 0.16 0 0
CUI: C0521525
Disease: Short neck
Short neck
288 0 120 0.15 0 0