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: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		1 51 1 0.14 48 0.79
CUI: C1851430
Disease: Subcortical white matter calcifications
Subcortical white matter calcifications 		1 0 1 0.14 0 0
CUI: C1851431
Disease: Cerebellar calcifications
Cerebellar calcifications 		1 0 1 0.14 0 0
CUI: C1853100
Disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4
CEREBROOCULOFACIOSKELETAL SYNDROME 4 		1 3 1 0.14 1 1.7E-02
CUI: C1853102
Disease: Cerebrooculofacioskeletal Syndrome 2
Cerebrooculofacioskeletal Syndrome 2 		1 6 1 0.14 2 3.2E-02
CUI: C1859224
Disease: Second metatarsal posteriorly placed
Second metatarsal posteriorly placed 		1 0 1 0.14 0 0
CUI: C1970808
Disease: Xeroderma Pigmentosum B-Cockayne Syndrome
Xeroderma Pigmentosum B-Cockayne Syndrome 		1 0 1 0.14 0 0
CUI: C3151063
Disease: MACULAR DEGENERATION, AGE-RELATED, 5
MACULAR DEGENERATION, AGE-RELATED, 5 		1 5 1 0.14 4 6.8E-02
CUI: C3551173
Disease: UV-SENSITIVE SYNDROME 1
UV-SENSITIVE SYNDROME 1 		1 5 1 0.14 4 6.8E-02
CUI: C4024826
Disease: Pigmentation anomalies of sun-exposed skin
Pigmentation anomalies of sun-exposed skin 		1 0 1 0.14 0 0
CUI: C4225344
Disease: TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE
TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE 		1 0 1 0.14 0 0
CUI: C4310783
Disease: PREMATURE OVARIAN FAILURE 11
PREMATURE OVARIAN FAILURE 11 		1 6 1 0.14 5 8.5E-02
CUI: C0277827
Disease: Early fontanel closure
Early fontanel closure 		2 0 1 0.12 0 0
CUI: C0751037
Disease: Cockayne Syndrome, Type III
Cockayne Syndrome, Type III 		2 0 1 0.12 0 0
CUI: C1851443
Disease: Cerebrooculofacioskeletal Syndrome 3
Cerebrooculofacioskeletal Syndrome 3 		2 0 1 0.12 0 0
CUI: C1857638
Disease: Patchy demyelination of subcortical white matter
Patchy demyelination of subcortical white matter 		2 0 1 0.12 0 0
CUI: C1859223
Disease: Deep longitudinal plantar crease
Deep longitudinal plantar crease 		2 0 1 0.12 0 0
CUI: C1968561
Disease: Xeroderma Pigmentosum, Type G-Cockayne Syndrome
Xeroderma Pigmentosum, Type G-Cockayne Syndrome 		2 0 1 0.12 0 0
CUI: C2674950
Disease: LUNG CANCER, SUSCEPTIBILITY TO
LUNG CANCER, SUSCEPTIBILITY TO 		2 0 1 0.12 0 0
CUI: C2826055
Disease: Mixed phenotype acute leukemia T/myeloid
Mixed phenotype acute leukemia T/myeloid 		2 0 1 0.12 0 0
CUI: C4025648
Disease: Abnormal peripheral myelination
Abnormal peripheral myelination 		2 0 1 0.12 0 0
CUI: C0239761
Disease: Gonadal hypoplasia
Gonadal hypoplasia 		3 0 1 0.11 0 0
CUI: C1857651
Disease: Ivory epiphyses of the phalanges of the hand
Ivory epiphyses of the phalanges of the hand 		3 0 1 0.11 0 0
CUI: C1859312
Disease: CAMFAK syndrome
CAMFAK syndrome 		3 0 3 0.43 0 0
CUI: C1970416
Disease: XFE Progeroid Syndrome
XFE Progeroid Syndrome 		3 0 1 0.11 0 0