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 0.33 0 0
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F
1 4 1 0.33 2 0.29
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II
1 0 1 0.33 0 0
Subcortical white matter calcifications
1 0 1 0.33 0 0
CUI: C1851431
Disease: Cerebellar calcifications
Cerebellar calcifications
1 0 1 0.33 0 0
CEREBROOCULOFACIOSKELETAL SYNDROME 4
1 3 1 0.33 1 0.14
Second metatarsal posteriorly placed
1 0 1 0.33 0 0
CUI: C1970416
Disease: XFE Progeroid Syndrome
XFE Progeroid Syndrome
1 3 1 0.33 1 0.14
MACULAR DEGENERATION, AGE-RELATED, 5
1 0 1 0.33 0 0
CUI: C3551173
Disease: UV-SENSITIVE SYNDROME 1
UV-SENSITIVE SYNDROME 1
1 0 1 0.33 0 0
XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME
1 3 1 0.33 1 0.14
FANCONI ANEMIA, COMPLEMENTATION GROUP Q
1 6 1 0.33 2 0.22
Pigmentation anomalies of sun-exposed skin
1 0 1 0.33 0 0
CUI: C4310783
Disease: PREMATURE OVARIAN FAILURE 11
PREMATURE OVARIAN FAILURE 11
1 0 1 0.33 0 0
Cerebrooculofacioskeletal Syndrome 1
2 0 1 0.25 0 0
CUI: C0239761
Disease: Gonadal hypoplasia
Gonadal hypoplasia
2 0 1 0.25 0 0
CUI: C0277827
Disease: Early fontanel closure
Early fontanel closure
2 0 1 0.25 0 0
Patchy demyelination of subcortical white matter
2 0 1 0.25 0 0
CUI: C1859223
Disease: Deep longitudinal plantar crease
Deep longitudinal plantar crease
2 0 1 0.25 0 0
Thyroid Hormone Metabolism, Abnormal
2 0 1 0.25 0 0
CUI: C2674950
Disease: LUNG CANCER, SUSCEPTIBILITY TO
LUNG CANCER, SUSCEPTIBILITY TO
2 0 1 0.25 0 0
CUI: C4025648
Disease: Abnormal peripheral myelination
Abnormal peripheral myelination
2 0 1 0.25 0 0
Pre B-cell acute lymphoblastic leukemia
3 0 1 0.20 0 0
Ivory epiphyses of the phalanges of the hand
3 0 1 0.20 0 0
CUI: C0020258
Disease: Hydrocephalus, Normal Pressure
Hydrocephalus, Normal Pressure
4 0 1 0.17 0 0