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: C4304594
Disease: 16q24.3 microdeletion syndrome
16q24.3 microdeletion syndrome 		1 0 1 6.2E-02 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 16 2 2.0E-02 1 4.3E-02
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		15 0 1 3.3E-02 0 0
CUI: C4304527
Disease: 6q25 microdeletion syndrome
6q25 microdeletion syndrome 		1 0 1 6.2E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 1 3.2E-03 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 7 7.6E-03 0 0
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		0 5 0 0 1 8.3E-02
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		59 0 1 1.4E-02 0 0
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		9 0 2 8.7E-02 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 0 1 1.2E-02 0 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 2 4.3E-02 2 4.7E-02
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern 		44 0 2 3.4E-02 0 0
CUI: C4021982
Disease: Abnormal eating behavior
Abnormal eating behavior 		8 0 1 4.3E-02 0 0
CUI: C4021803
Disease: Abnormal eyelid morphology
Abnormal eyelid morphology 		10 3 1 4.0E-02 1 1.0E-01
CUI: C1859481
Disease: Abnormal finger flexion creases
Abnormal finger flexion creases 		0 1 0 0 1 0.12
CUI: C4023721
Disease: Abnormal hair pattern
Abnormal hair pattern 		15 0 2 6.9E-02 0 0
CUI: C4477036
Disease: Abnormal location of the eyebrow
Abnormal location of the eyebrow 		1 0 1 6.2E-02 0 0
CUI: C4022453
Disease: Abnormal morphology of ulna
Abnormal morphology of ulna 		1 0 1 6.2E-02 0 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		49 0 1 1.6E-02 0 0
CUI: C1290508
Disease: Abnormal number of teeth
Abnormal number of teeth 		3 0 2 0.12 0 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		45 0 1 1.7E-02 0 0
CUI: C4073132
Disease: Abnormal pelvis bone morphology
Abnormal pelvis bone morphology 		4 1 1 5.3E-02 1 0.12
CUI: C4025831
Disease: Abnormal peripheral nervous system morphology
Abnormal peripheral nervous system morphology 		4 0 1 5.3E-02 0 0
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function 		21 0 1 2.8E-02 0 0
CUI: C0231471
Disease: Abnormal posture
Abnormal posture 		13 0 1 3.6E-02 0 0