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 2.4E-02 0 0
CUI: C0234629
Disease: Abnormal color vision
Abnormal color vision 		5 0 2 6.5E-02 0 0
CUI: C4520679
Disease: Abnormal macular morphology
Abnormal macular morphology 		1 0 1 3.6E-02 0 0
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology 		5 0 2 6.5E-02 0 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		6 0 1 3.0E-02 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		103 0 1 7.7E-03 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		4 0 2 6.7E-02 0 0
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		13 0 1 2.5E-02 0 0
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		21 29 6 0.14 2 1.7E-02
CUI: C4020900
Disease: Abnormality of the upper limb
Abnormality of the upper limb 		3 0 1 3.3E-02 0 0
CUI: C4022454
Disease: Abnormality of upper limb bone
Abnormality of upper limb bone 		1 0 1 3.6E-02 0 0
CUI: C4021387
Disease: Abnormality of upper limb joint
Abnormality of upper limb joint 		1 0 1 3.6E-02 0 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		5 0 1 3.1E-02 0 0
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		7 53 1 2.9E-02 2 1.4E-02
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		1 99 1 3.6E-02 3 1.6E-02
CUI: C0271583
Disease: ACTH Deficiency, Isolated
ACTH Deficiency, Isolated 		3 0 1 3.3E-02 0 0
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		5 21 4 0.14 7 6.7E-02
CUI: C0003467
Disease: Anxiety
Anxiety 		13 0 2 5.1E-02 0 0
CUI: C0423421
Disease: Atrophic macular change
Atrophic macular change 		1 0 1 3.6E-02 0 0
CUI: C0521694
Disease: Atrophic retina
Atrophic retina 		1 0 1 3.6E-02 0 0
CUI: C1288283
Disease: Atrophoderma maculatum
Atrophoderma maculatum 		1 0 1 3.6E-02 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		44 0 1 1.4E-02 0 0
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		23 0 1 2.0E-02 0 0
CUI: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
BARDET-BIEDL SYNDROME 14 (disorder) 		2 17 1 3.4E-02 2 1.9E-02
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		3 0 1 3.3E-02 0 0