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: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		14 0 1 1.1E-02 0 0
CUI: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential 		1 0 1 1.3E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 0 1 1.1E-02 0 0
CUI: C0234629
Disease: Abnormal color vision
Abnormal color vision 		5 5 3 3.7E-02 2 9.0E-03
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		3 4 1 1.3E-02 2 9.1E-03
CUI: C4520679
Disease: Abnormal macular morphology
Abnormal macular morphology 		1 0 1 1.3E-02 0 0
CUI: C4021546
Disease: Abnormal mitochondria in muscle tissue
Abnormal mitochondria in muscle tissue 		2 0 1 1.3E-02 0 0
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology 		5 8 3 3.7E-02 2 8.9E-03
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		6 6 1 1.2E-02 1 4.5E-03
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential 		4 0 1 1.2E-02 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		103 0 2 1.1E-02 0 0
CUI: C4023599
Disease: Abnormality of carbohydrate metabolism/homeostasis
Abnormality of carbohydrate metabolism/homeostasis 		1 0 1 1.3E-02 0 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		9 13 1 1.2E-02 1 4.3E-03
CUI: C4023333
Disease: Abnormality of corneal thickness
Abnormality of corneal thickness 		1 2 1 1.3E-02 2 9.2E-03
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		4 0 2 2.5E-02 0 0
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum 		8 11 1 1.2E-02 2 8.8E-03
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		21 29 11 0.12 6 2.5E-02
CUI: C3808249
Disease: Abnormality of the optic disc
Abnormality of the optic disc 		2 4 1 1.3E-02 2 9.1E-03
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve 		8 11 1 1.2E-02 2 8.8E-03
CUI: C4020900
Disease: Abnormality of the upper limb
Abnormality of the upper limb 		3 4 1 1.3E-02 1 4.5E-03
CUI: C4022454
Disease: Abnormality of upper limb bone
Abnormality of upper limb bone 		1 1 1 1.3E-02 1 4.6E-03
CUI: C4021387
Disease: Abnormality of upper limb joint
Abnormality of upper limb joint 		1 1 1 1.3E-02 1 4.6E-03
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		5 0 2 2.5E-02 0 0
CUI: C0344307
Disease: Absence of pain sensation
Absence of pain sensation 		3 0 1 1.3E-02 0 0
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		7 53 3 3.7E-02 1 3.7E-03