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: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 49 44 8.6E-02 5 5.1E-02
CUI: C0575802
Disease: Small hand
Small hand 		108 31 22 8.6E-02 1 1.2E-02
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		123 13 23 8.5E-02 2 3.1E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 350 33 8.5E-02 3 7.5E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 88 8.5E-02 4 1.9E-02
CUI: C1854114
Disease: Short nose
Short nose 		265 23 34 8.5E-02 1 1.3E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 96 8.4E-02 0 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 31 8.4E-02 0 0
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 38 35 8.3E-02 4 4.5E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 87 8.3E-02 11 1.8E-02
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		104 13 21 8.3E-02 2 3.1E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 90 8.2E-02 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 94 32 8.2E-02 2 1.4E-02
CUI: C1849089
Disease: Broad forehead
Broad forehead 		133 0 23 8.2E-02 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 43 37 8.1E-02 2 2.1E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 76 8.0E-02 6 3.3E-02
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 96 8.0E-02 11 3.3E-02
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		114 0 21 8.0E-02 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 66 8.0E-02 2 1.5E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 146 7.9E-02 17 2.9E-02
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 23 25 7.8E-02 6 8.5E-02
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae 		79 0 18 7.8E-02 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 29 33 7.7E-02 1 1.2E-02
CUI: C3494422
Disease: Retrognathia
Retrognathia 		191 11 26 7.7E-02 1 1.6E-02
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 22 34 7.7E-02 1 1.3E-02