Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Patchy demyelination of subcortical white matter
2 0 2 1.00 0 0
Ivory epiphyses of the phalanges of the hand
3 0 2 0.67 0 0
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome
1 0 1 0.50 0 0
CUI: C1849953
Disease: Square pelvis bone
Square pelvis bone
4 0 2 0.50 0 0
Subcortical white matter calcifications
1 0 1 0.50 0 0
CUI: C1851431
Disease: Cerebellar calcifications
Cerebellar calcifications
1 0 1 0.50 0 0
CUI: C1857645
Disease: Slender nose
Slender nose
4 0 2 0.50 0 0
CUI: C1857652
Disease: Thymic hormone decreased
Thymic hormone decreased
1 0 1 0.50 0 0
Increased cellular sensitivity to UV light
4 0 2 0.50 0 0
Second metatarsal posteriorly placed
1 0 1 0.50 0 0
MACULAR DEGENERATION, AGE-RELATED, 5
1 0 1 0.50 0 0
CUI: C3551173
Disease: UV-SENSITIVE SYNDROME 1
UV-SENSITIVE SYNDROME 1
1 0 1 0.50 0 0
CUI: C3553298
Disease: UV-SENSITIVE SYNDROME 2
UV-SENSITIVE SYNDROME 2
1 0 1 0.50 0 0
Pigmentation anomalies of sun-exposed skin
1 0 1 0.50 0 0
CUI: C4025610
Disease: Peripheral dysmyelination
Peripheral dysmyelination
4 0 2 0.50 0 0
CUI: C4310783
Disease: PREMATURE OVARIAN FAILURE 11
PREMATURE OVARIAN FAILURE 11
1 0 1 0.50 0 0
CUI: C0235857
Disease: Decreased lacrimation
Decreased lacrimation
6 0 2 0.33 0 0
CUI: C1837767
Disease: Loss of facial adipose tissue
Loss of facial adipose tissue
6 0 2 0.33 0 0
CUI: C1859223
Disease: Deep longitudinal plantar crease
Deep longitudinal plantar crease
2 0 1 0.33 0 0
CUI: C2674950
Disease: LUNG CANCER, SUSCEPTIBILITY TO
LUNG CANCER, SUSCEPTIBILITY TO
2 0 1 0.33 0 0
CUI: C4021755
Disease: Abnormality of midbrain morphology
Abnormality of midbrain morphology
2 0 1 0.33 0 0
CUI: C4025648
Disease: Abnormal peripheral myelination
Abnormal peripheral myelination
2 0 1 0.33 0 0
CUI: C0239761
Disease: Gonadal hypoplasia
Gonadal hypoplasia
3 0 1 0.25 0 0
CUI: C2242574
Disease: Compulsive sexual behaviour
Compulsive sexual behaviour
3 0 1 0.25 0 0
CUI: C4523967
Disease: Fracture infection
Fracture infection
4 0 1 0.20 0 0