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: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential 		1 0 1 1.1E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 0 1 9.7E-03 0 0
CUI: C0234629
Disease: Abnormal color vision
Abnormal color vision 		5 5 2 2.2E-02 1 2.4E-03
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		12 0 1 1.0E-02 0 0
CUI: C0392702
Disease: Abnormal involuntary movement
Abnormal involuntary movement 		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 0 1 1.1E-02 0 0
CUI: C0221199
Disease: Abnormal palmar creases
Abnormal palmar creases 		3 0 1 1.1E-02 0 0
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology 		5 8 2 2.2E-02 1 2.3E-03
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		6 0 1 1.1E-02 0 0
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential 		4 0 1 1.1E-02 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		103 0 2 1.1E-02 0 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		9 0 1 1.0E-02 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		4 0 4 4.5E-02 0 0
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		21 29 8 7.9E-02 2 4.5E-03
CUI: C4020900
Disease: Abnormality of the upper limb
Abnormality of the upper limb 		3 4 1 1.1E-02 1 2.4E-03
CUI: C2674738
Disease: Abnormality of toe
Abnormality of toe 		1 0 1 1.1E-02 0 0
CUI: C4022454
Disease: Abnormality of upper limb bone
Abnormality of upper limb bone 		1 1 1 1.1E-02 1 2.4E-03
CUI: C4021387
Disease: Abnormality of upper limb joint
Abnormality of upper limb joint 		1 1 1 1.1E-02 1 2.4E-03
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		5 0 2 2.2E-02 0 0
CUI: C0344307
Disease: Absence of pain sensation
Absence of pain sensation 		3 0 1 1.1E-02 0 0
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		7 53 1 1.1E-02 1 2.1E-03
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		1 99 1 1.1E-02 1 1.9E-03
CUI: C0271583
Disease: ACTH Deficiency, Isolated
ACTH Deficiency, Isolated 		3 0 1 1.1E-02 0 0
CUI: C4021534
Disease: Adult onset sensorineural hearing impairment
Adult onset sensorineural hearing impairment 		3 0 2 2.2E-02 0 0