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: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
497 0 270 0.18 0 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
295 0 236 0.18 0 0
CUI: C0086543
Disease: Cataract
Cataract
878 0 314 0.17 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
325 0 232 0.17 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
426 0 243 0.17 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
429 29 236 0.16 1 9.5E-03
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
284 0 214 0.16 0 0
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
1098 73 322 0.16 2 1.4E-02
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
321 0 213 0.16 0 0
CUI: C0848558
Disease: Hypospadias
Hypospadias
366 0 217 0.15 0 0
Sensorineural Hearing Loss (disorder)
783 111 267 0.15 1 5.3E-03
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding)
427 0 220 0.15 0 0
CUI: C0521525
Disease: Short neck
Short neck
288 0 200 0.15 0 0
Delayed speech and language development
560 0 235 0.15 0 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
384 0 211 0.15 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly
410 0 214 0.15 0 0
CUI: C0004134
Disease: Ataxia
Ataxia
868 0 267 0.14 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
407 0 207 0.14 0 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
426 0 205 0.14 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
439 617 206 0.14 7 1.0E-02
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
305 0 189 0.14 0 0
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
305 0 187 0.14 0 0
CUI: C1854114
Disease: Short nose
Short nose
265 0 182 0.14 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
568 51 214 0.13 2 1.6E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
473 0 198 0.13 0 0