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: C0024622
Disease: Malignant neoplasm of retina
Malignant neoplasm of retina 		1 0 1 0.25 0 0
CUI: C1327916
Disease: REVESZ SYNDROME (disorder)
REVESZ SYNDROME (disorder) 		1 0 1 0.25 0 0
CUI: C3151302
Disease: Chromosome 13q14 deletion syndrome
Chromosome 13q14 deletion syndrome 		1 0 1 0.25 0 0
CUI: C3151445
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 		1 0 1 0.25 0 0
CUI: C4024828
Disease: Fine, reticulate skin pigmentation
Fine, reticulate skin pigmentation 		1 0 1 0.25 0 0
CUI: C0020581
Disease: Hyphema
Hyphema 		2 0 1 0.20 0 0
CUI: C0345419
Disease: Cutis marmorata telangiectatica congenita
Cutis marmorata telangiectatica congenita 		2 0 1 0.20 0 0
CUI: C1704237
Disease: Trichodiscoma
Trichodiscoma 		2 0 1 0.20 0 0
CUI: C1838333
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		2 0 1 0.20 0 0
CUI: C1848435
Disease: WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS
WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS 		2 0 1 0.20 0 0
CUI: C1867289
Disease: Retinal calcification
Retinal calcification 		2 0 1 0.20 0 0
CUI: C1969783
Disease: Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 		2 0 1 0.20 0 0
CUI: C4288013
Disease: Vulvar Adenocarcinoma of Mammary Gland Type
Vulvar Adenocarcinoma of Mammary Gland Type 		2 0 1 0.20 0 0
CUI: C0854915
Disease: Retinoblastoma unilateral
Retinoblastoma unilateral 		3 0 1 0.17 0 0
CUI: C1334266
Disease: Intraurothelial Neoplasia
Intraurothelial Neoplasia 		3 0 1 0.17 0 0
CUI: C1833797
Disease: Optic Nerve Hypoplasia, Bilateral
Optic Nerve Hypoplasia, Bilateral 		3 0 1 0.17 0 0
CUI: C2608045
Disease: Trilateral Retinoblastoma
Trilateral Retinoblastoma 		3 0 1 0.17 0 0
CUI: C3151617
Disease: ANTERIOR SEGMENT DYSGENESIS 7
ANTERIOR SEGMENT DYSGENESIS 7 		3 0 1 0.17 0 0
CUI: C4025038
Disease: Abnormality of the tibial metaphysis
Abnormality of the tibial metaphysis 		3 0 1 0.17 0 0
CUI: C0344541
Disease: Persistent pupillary membranes
Persistent pupillary membranes 		4 0 1 0.14 0 0
CUI: C1833798
Disease: Optic Nerve Aplasia, Bilateral
Optic Nerve Aplasia, Bilateral 		4 0 1 0.14 0 0
CUI: C1851970
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 		4 0 1 0.14 0 0
CUI: C4025040
Disease: Abnormality of the femoral metaphysis
Abnormality of the femoral metaphysis 		4 0 1 0.14 0 0
CUI: C0152253
Disease: Posterior synechiae
Posterior synechiae 		5 0 1 0.12 0 0
CUI: C0229197
Disease: Retinal fold (finding)
Retinal fold (finding) 		5 0 1 0.12 0 0