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: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		45 6 2 2.4E-02 1 3.4E-02
CUI: C4025881
Disease: Abnormal oral frenulum morphology
Abnormal oral frenulum morphology 		19 0 1 1.8E-02 0 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		58 0 1 1.0E-02 0 0
CUI: C0151854
Disease: Abnormal platelets
Abnormal platelets 		11 0 1 2.0E-02 0 0
CUI: C4025250
Disease: Abnormal sacrum morphology
Abnormal sacrum morphology 		17 0 1 1.8E-02 0 0
CUI: C4021087
Disease: Abnormal social behavior
Abnormal social behavior 		19 0 3 5.5E-02 0 0
CUI: C1860243
Disease: Abnormal sternal ossification
Abnormal sternal ossification 		6 0 1 2.3E-02 0 0
CUI: C4072950
Disease: Abnormal timing of pattern reversal visual evoked potentials
Abnormal timing of pattern reversal visual evoked potentials 		1 1 1 2.6E-02 1 4.2E-02
CUI: C1856023
Disease: Abnormal vagina morphology
Abnormal vagina morphology 		12 0 1 2.0E-02 0 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		115 0 4 2.7E-02 0 0
CUI: C4025798
Disease: Abnormalities of placenta or umbilical cord
Abnormalities of placenta or umbilical cord 		1 0 1 2.6E-02 0 0
CUI: C4025845
Disease: Abnormality iris morphology
Abnormality iris morphology 		27 0 1 1.5E-02 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		104 131 3 2.1E-02 1 6.5E-03
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology 		21 0 1 1.7E-02 0 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		198 0 3 1.3E-02 0 0
CUI: C3550704
Disease: Abnormality of digit
Abnormality of digit 		9 0 1 2.1E-02 0 0
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		86 0 2 1.6E-02 0 0
CUI: C4023583
Disease: Abnormality of iron homeostasis
Abnormality of iron homeostasis 		5 0 1 2.3E-02 0 0
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		171 0 1 4.8E-03 0 0
CUI: C4023408
Disease: Abnormality of mouth size
Abnormality of mouth size 		3 0 1 2.4E-02 0 0
CUI: C4023691
Disease: Abnormality of pain sensation
Abnormality of pain sensation 		6 0 1 2.3E-02 0 0
CUI: C4023369
Disease: Abnormality of placental membranes
Abnormality of placental membranes 		1 0 1 2.6E-02 0 0
CUI: C3164374
Disease: Abnormality of pulmonary valve
Abnormality of pulmonary valve 		40 0 1 1.3E-02 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 1 4.0E-03 0 0
CUI: C4023528
Disease: Abnormality of skin morphology
Abnormality of skin morphology 		16 0 2 3.8E-02 0 0