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: C1838099
Disease: ABCD syndrome
ABCD syndrome 		1 0 1 1.1E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		6 0 1 1.1E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		9 0 1 1.0E-02 0 0
CUI: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential 		1 2 1 1.1E-02 1 3.9E-03
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 19 2 2.0E-02 2 7.3E-03
CUI: C4476566
Disease: Abnormal brain choline level by MRS
Abnormal brain choline level by MRS 		1 0 1 1.1E-02 0 0
CUI: C4025711
Disease: Abnormal caudate nucleus morphology
Abnormal caudate nucleus morphology 		1 0 1 1.1E-02 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		1 0 1 1.1E-02 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		12 10 2 2.0E-02 1 3.8E-03
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 1 8.4E-03 1 3.4E-03
CUI: C4018849
Disease: Abnormal fear/anxiety-related behavior
Abnormal fear/anxiety-related behavior 		2 0 1 1.1E-02 0 0
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements 		2 0 1 1.1E-02 0 0
CUI: C4520679
Disease: Abnormal macular morphology
Abnormal macular morphology 		1 0 1 1.1E-02 0 0
CUI: C4021546
Disease: Abnormal mitochondria in muscle tissue
Abnormal mitochondria in muscle tissue 		2 2 2 2.3E-02 1 3.9E-03
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		6 6 2 2.2E-02 2 7.7E-03
CUI: C4073132
Disease: Abnormal pelvis bone morphology
Abnormal pelvis bone morphology 		1 1 1 1.1E-02 1 3.9E-03
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function 		2 0 1 1.1E-02 0 0
CUI: C0151746
Disease: Abnormal renal function
Abnormal renal function 		3 6 1 1.1E-02 1 3.8E-03
CUI: C4022770
Disease: Abnormal thalamic MRI signal intensity
Abnormal thalamic MRI signal intensity 		2 6 1 1.1E-02 1 3.8E-03
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential 		4 5 1 1.1E-02 1 3.8E-03
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		103 131 3 1.6E-02 1 2.6E-03
CUI: C4023599
Disease: Abnormality of carbohydrate metabolism/homeostasis
Abnormality of carbohydrate metabolism/homeostasis 		1 0 1 1.1E-02 0 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		9 13 2 2.1E-02 2 7.5E-03
CUI: C4025596
Disease: Abnormality of connective tissue
Abnormality of connective tissue 		3 0 1 1.1E-02 0 0
CUI: C4021945
Disease: Abnormality of globe size
Abnormality of globe size 		1 0 1 1.1E-02 0 0