Source: ALL
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: C0751037
Disease: Cockayne Syndrome, Type III
Cockayne Syndrome, Type III 		2 0 2 0.18 0 0
CUI: C1857638
Disease: Patchy demyelination of subcortical white matter
Patchy demyelination of subcortical white matter 		2 0 2 0.18 0 0
CUI: C1857651
Disease: Ivory epiphyses of the phalanges of the hand
Ivory epiphyses of the phalanges of the hand 		3 0 2 0.17 0 0
CUI: C1849953
Disease: Square pelvis bone
Square pelvis bone 		4 0 2 0.15 0 0
CUI: C1857645
Disease: Slender nose
Slender nose 		4 0 2 0.15 0 0
CUI: C1857707
Disease: Increased cellular sensitivity to UV light
Increased cellular sensitivity to UV light 		4 0 2 0.15 0 0
CUI: C4025610
Disease: Peripheral dysmyelination
Peripheral dysmyelination 		4 0 2 0.15 0 0
CUI: C0235857
Disease: Decreased lacrimation
Decreased lacrimation 		6 0 2 0.13 0 0
CUI: C1837767
Disease: Loss of facial adipose tissue
Loss of facial adipose tissue 		6 0 2 0.13 0 0
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential 		55 5 6 1.0E-01 1 0.17
CUI: C1389280
Disease: Basal ganglia calcification
Basal ganglia calcification 		22 0 3 1.0E-01 0 0
CUI: C0277960
Disease: Dry hair
Dry hair 		12 0 2 9.5E-02 0 0
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		1 0 1 9.1E-02 0 0
CUI: C0333072
Disease: Claw-shaped deformity
Claw-shaped deformity 		1 0 1 9.1E-02 0 0
CUI: C0333662
Disease: Hemiatrophy
Hemiatrophy 		1 0 1 9.1E-02 0 0
CUI: C0730309
Disease: Inherited optic neuropathy
Inherited optic neuropathy 		1 0 1 9.1E-02 0 0
CUI: C1411006
Disease: Finger contracture
Finger contracture 		1 0 1 9.1E-02 0 0
CUI: C1735375
Disease: Progressive optic neuropathy
Progressive optic neuropathy 		1 0 1 9.1E-02 0 0
CUI: C1838099
Disease: ABCD syndrome
ABCD syndrome 		1 0 1 9.1E-02 0 0
CUI: C1838564
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2 		1 0 1 9.1E-02 0 0
CUI: C1840013
Disease: Elevated 8-dehydrocholesterol
Elevated 8-dehydrocholesterol 		1 0 1 9.1E-02 0 0
CUI: C1840014
Disease: Elevated 8(9)-cholestenol
Elevated 8(9)-cholestenol 		1 0 1 9.1E-02 0 0
CUI: C1844846
Disease: Stippled calcification in carpal bones
Stippled calcification in carpal bones 		1 0 1 9.1E-02 0 0
CUI: C1844848
Disease: Tarsal stippling
Tarsal stippling 		1 0 1 9.1E-02 0 0
CUI: C1848473
Disease: Whistling appearance
Whistling appearance 		1 0 1 9.1E-02 0 0