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: C0025990
Disease: Micrognathism
Micrognathism 		574 52 304 0.35 8 6.6E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		413 30 244 0.32 7 7.0E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 262 0.32 23 0.19
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		496 66 245 0.29 7 5.1E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		596 47 260 0.28 9 7.8E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 219 0.27 10 9.4E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 210 0.27 20 0.19
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		446 0 216 0.26 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		773 120 282 0.26 3 1.5E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		682 85 253 0.25 4 2.5E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		574 49 231 0.25 9 7.7E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 202 0.25 7 7.1E-02
CUI: C0033377
Disease: Ptosis
Ptosis 		558 0 227 0.25 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1039 0 321 0.25 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1005 0 314 0.25 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		320 22 179 0.24 4 4.2E-02
CUI: C0349588
Disease: Short stature
Short stature 		1122 292 327 0.24 16 4.5E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1458 505 382 0.23 24 4.3E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		954 579 275 0.22 7 1.1E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		855 0 250 0.21 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		1259 6 316 0.21 2 2.5E-02
CUI: C0521525
Disease: Short neck
Short neck 		288 29 148 0.20 5 5.0E-02
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		250 43 136 0.19 6 5.3E-02
CUI: C1854114
Disease: Short nose
Short nose 		265 23 138 0.19 8 8.7E-02
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		432 0 163 0.19 0 0