Source: CLINVAR ×
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 		6 6 2 1.6E-02 1 5.1E-03
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		2 2 1 8.0E-03 1 5.2E-03
CUI: C4073132
Disease: Abnormal pelvis bone morphology
Abnormal pelvis bone morphology 		1 1 1 8.1E-03 1 5.2E-03
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		4 5 1 7.9E-03 1 5.1E-03
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function 		2 2 1 8.0E-03 1 5.2E-03
CUI: C0231471
Disease: Abnormal posture
Abnormal posture 		7 7 4 3.1E-02 4 2.1E-02
CUI: C0392188
Disease: Abnormal rapid eye movement sleep
Abnormal rapid eye movement sleep 		1 0 1 8.1E-03 0 0
CUI: C4023458
Disease: Abnormal shape of the frontal region
Abnormal shape of the frontal region 		2 2 1 8.0E-03 1 5.2E-03
CUI: C1859347
Disease: Abnormal subcutaneous fat tissue distribution
Abnormal subcutaneous fat tissue distribution 		2 2 2 1.6E-02 1 5.2E-03
CUI: C4072950
Disease: Abnormal timing of pattern reversal visual evoked potentials
Abnormal timing of pattern reversal visual evoked potentials 		1 0 1 8.1E-03 0 0
CUI: C4025753
Disease: Abnormal tricuspid valve morphology
Abnormal tricuspid valve morphology 		1 0 1 8.1E-03 0 0
CUI: C4022728
Disease: Abnormal upper to lower segment ratio
Abnormal upper to lower segment ratio 		1 0 1 8.1E-03 0 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		6 6 2 1.6E-02 2 1.0E-02
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential 		4 5 2 1.6E-02 1 5.1E-03
CUI: C3164445
Disease: Abnormality of aortic valve
Abnormality of aortic valve 		2 0 1 8.0E-03 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		103 0 5 2.3E-02 0 0
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology 		2 0 2 1.6E-02 0 0
CUI: C4025692
Disease: Abnormality of calvarial morphology
Abnormality of calvarial morphology 		1 1 1 8.1E-03 1 5.2E-03
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		9 13 3 2.3E-02 2 9.9E-03
CUI: C4025596
Disease: Abnormality of connective tissue
Abnormality of connective tissue 		3 0 1 7.9E-03 0 0
CUI: C4023353
Disease: Abnormality of coordination
Abnormality of coordination 		0 3 0 0 1 5.2E-03
CUI: C4023689
Disease: Abnormality of copper homeostasis
Abnormality of copper homeostasis 		2 2 1 8.0E-03 1 5.2E-03
CUI: C4021808
Disease: Abnormality of earlobe
Abnormality of earlobe 		1 0 1 8.1E-03 0 0
CUI: C4024172
Disease: Abnormality of hair pigmentation
Abnormality of hair pigmentation 		2 0 1 8.0E-03 0 0
CUI: C4021755
Disease: Abnormality of midbrain morphology
Abnormality of midbrain morphology 		1 1 1 8.1E-03 1 5.2E-03