Source: ALL
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: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 22 103 0.17 1 1.8E-02
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		305 0 102 0.17 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 43 101 0.16 4 5.4E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 110 0.16 7 9.1E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 123 0.16 8 8.2E-02
CUI: C0085636
Disease: Photophobia
Photophobia 		227 0 86 0.16 0 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 0 138 0.16 0 0
CUI: C0456909
Disease: Blindness
Blindness 		393 0 108 0.16 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 169 0.16 2 1.2E-02
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		367 0 103 0.15 0 0
CUI: C0086543
Disease: Cataract
Cataract 		878 0 171 0.15 0 0
CUI: C0022578
Disease: Keratoconus
Keratoconus 		269 0 89 0.15 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 185 0.15 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 22 95 0.15 3 5.6E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 334 0.15 2 1.0E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 146 0.15 2 1.8E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 127 0.15 4 4.5E-02
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 194 0.14 8 2.5E-02
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 79 0.14 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 207 0.14 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 25 73 0.14 2 3.4E-02
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		783 111 147 0.14 2 1.4E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 180 0.14 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 124 0.14 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 272 0.14 10 1.7E-02