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: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome
1 0 1 0.50 0 0
CUI: C0429803
Disease: Bladder trabeculation
Bladder trabeculation
1 0 1 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
Second metatarsal posteriorly placed
1 0 1 0.50 0 0
CUI: C2053440
Disease: Thin lower lip vermilion
Thin lower lip vermilion
1 0 1 0.50 0 0
MACULAR DEGENERATION, AGE-RELATED, 5
1 0 1 0.50 0 0
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1
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: C4021171
Disease: Prominent tragus
Prominent tragus
1 0 1 0.50 0 0
Prominent superior crus of antihelix
1 0 1 0.50 0 0
CUI: C4021531
Disease: Hypertrophy of the urinary bladder
Hypertrophy of the urinary bladder
1 0 1 0.50 0 0
Pigmentation anomalies of sun-exposed skin
1 0 1 0.50 0 0
CUI: C4293695
Disease: Rectovestibular fistula
Rectovestibular fistula
1 0 1 0.50 0 0
CUI: C4310783
Disease: PREMATURE OVARIAN FAILURE 11
PREMATURE OVARIAN FAILURE 11
1 0 1 0.50 0 0
CUI: C0431697
Disease: Unilateral renal dysplasia
Unilateral renal dysplasia
2 0 1 0.33 0 0
CUI: C0751037
Disease: Cockayne Syndrome, Type III
Cockayne Syndrome, Type III
2 0 1 0.33 0 0
Patchy demyelination of subcortical white matter
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: C4021746
Disease: Abnormality of the ilium
Abnormality of the ilium
2 0 1 0.33 0 0
CUI: C4025648
Disease: Abnormal peripheral myelination
Abnormal peripheral myelination
2 0 1 0.33 0 0
Partial absence of cerebellar vermis
2 0 1 0.33 0 0
CUI: C0220730
Disease: Fryns syndrome
Fryns syndrome
3 0 1 0.25 0 0
CUI: C0239761
Disease: Gonadal hypoplasia
Gonadal hypoplasia
3 0 1 0.25 0 0
CUI: C0266324
Disease: Congenital dilatation of ureter
Congenital dilatation of ureter
3 0 1 0.25 0 0