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: C3553298
Disease: UV-SENSITIVE SYNDROME 2
UV-SENSITIVE SYNDROME 2 		1 2 1 0.50 1 3.6E-02
CUI: C4021755
Disease: Abnormality of midbrain morphology
Abnormality of midbrain morphology 		1 1 1 0.50 1 3.7E-02
CUI: C4025692
Disease: Abnormality of calvarial morphology
Abnormality of calvarial morphology 		1 1 1 0.50 1 3.7E-02
CUI: C0277960
Disease: Dry hair
Dry hair 		2 2 1 0.33 1 3.6E-02
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin 		2 3 1 0.33 1 3.4E-02
CUI: C1857644
Disease: Retinal pigment epithelial mottling
Retinal pigment epithelial mottling 		2 2 1 0.33 1 3.6E-02
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		3 4 1 0.25 1 3.3E-02
CUI: C0003079
Disease: Anisocoria
Anisocoria 		4 5 1 0.20 1 3.2E-02
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		4 5 1 0.20 1 3.2E-02
CUI: C4551520
Disease: Intention tremor
Intention tremor 		5 5 1 0.17 1 3.2E-02
CUI: C0426415
Disease: Large nose
Large nose 		6 7 1 0.14 1 3.0E-02
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		6 6 1 0.14 1 3.1E-02
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		7 6 1 0.12 1 3.1E-02
CUI: C0234979
Disease: Dysdiadochokinesis
Dysdiadochokinesis 		7 7 1 0.12 1 3.0E-02
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		7 8 1 0.12 1 2.9E-02
CUI: C2673431
Disease: Abnormality of the periventricular white matter
Abnormality of the periventricular white matter 		7 7 1 0.12 1 3.0E-02
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		8 9 1 0.11 1 2.9E-02
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		8 8 1 0.11 1 2.9E-02
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		8 9 1 0.11 1 2.9E-02
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		12 15 1 7.7E-02 1 2.4E-02
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		13 13 1 7.1E-02 1 2.6E-02
CUI: C0728829
Disease: Congenital pes cavus
Congenital pes cavus 		13 13 1 7.1E-02 1 2.6E-02
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		13 17 1 7.1E-02 1 2.3E-02
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		14 21 1 6.7E-02 1 2.1E-02
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		15 17 1 6.2E-02 1 2.3E-02