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: C4025724
Disease: Abnormality of the cerebral ventricles
Abnormality of the cerebral ventricles 		4 5 3 0.14 4 0.33
CUI: C1740801
Disease: Exaggerated startle response
Exaggerated startle response 		18 4 4 0.12 3 0.25
CUI: C4021758
Disease: Delayed CNS myelination
Delayed CNS myelination 		21 4 3 7.9E-02 3 0.25
CUI: C1836038
Disease: Poor head control
Poor head control 		162 13 5 2.8E-02 4 0.20
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		79 8 4 4.2E-02 3 0.19
CUI: C1859347
Disease: Abnormal subcutaneous fat tissue distribution
Abnormal subcutaneous fat tissue distribution 		9 2 2 7.4E-02 2 0.18
CUI: C4020870
Disease: Abnormality of the hip joint
Abnormality of the hip joint 		2 2 1 4.8E-02 2 0.18
CUI: C4021227
Disease: Underdeveloped nasolabial fold
Underdeveloped nasolabial fold 		3 2 2 9.5E-02 2 0.18
CUI: C4022764
Disease: Abnormal metabolic brain imaging by MRS
Abnormal metabolic brain imaging by MRS 		2 2 1 4.8E-02 2 0.18
CUI: C4024270
Disease: Distally placed thumb
Distally placed thumb 		1 2 1 5.0E-02 2 0.18
CUI: C4025165
Disease: Cutaneous syndactyly between fingers 2 and 5
Cutaneous syndactyly between fingers 2 and 5 		1 2 1 5.0E-02 2 0.18
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata 		80 9 3 3.1E-02 3 0.18
CUI: C0006157
Disease: Breech Presentation
Breech Presentation 		30 11 3 6.4E-02 3 0.16
CUI: C0426848
Disease: Sacral dimple
Sacral dimple 		69 11 3 3.5E-02 3 0.16
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		139 4 2 1.3E-02 2 0.15
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		91 19 4 3.7E-02 4 0.15
CUI: C1849043
Disease: Soft, doughy skin
Soft, doughy skin 		11 4 2 6.9E-02 2 0.15
CUI: C4022765
Disease: Abnormality of the subarachnoid space
Abnormality of the subarachnoid space 		3 4 1 4.5E-02 2 0.15
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		106 20 4 3.3E-02 4 0.15
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		7 5 2 8.0E-02 2 0.14
CUI: C4020847
Disease: Abnormality of pelvic girdle bone morphology
Abnormality of pelvic girdle bone morphology 		55 5 1 1.4E-02 2 0.14
CUI: C4021739
Disease: Abnormality of the acetabulum
Abnormality of the acetabulum 		7 5 1 3.8E-02 2 0.14
CUI: C0742028
Disease: Cerebellar vermis atrophy
Cerebellar vermis atrophy 		32 6 2 4.0E-02 2 0.13
CUI: C0231274
Disease: Intolerant of heat
Intolerant of heat 		19 7 3 8.3E-02 2 0.12
CUI: C0269269
Disease: Inversion of nipple (disorder)
Inversion of nipple (disorder) 		27 7 4 9.3E-02 2 0.12