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: C1851406
Disease: Peripheral retinal avascularization
Peripheral retinal avascularization 		2 0 2 1.0E-01 0 0
CUI: C1857299
Disease: RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL
RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL 		13 0 3 1.0E-01 0 0
CUI: C4024934
Disease: Cerebellar medulloblastoma
Cerebellar medulloblastoma 		13 0 3 1.0E-01 0 0
CUI: C4025050
Disease: Irregular distal femoral epiphysis
Irregular distal femoral epiphysis 		2 0 2 1.0E-01 0 0
CUI: C4025356
Disease: Abnormal vitreous humor morphology
Abnormal vitreous humor morphology 		2 0 2 1.0E-01 0 0
CUI: C4073118
Disease: Optically empty vitreous
Optically empty vitreous 		2 0 2 1.0E-01 0 0
CUI: C1848488
Disease: Pierre Robin syndrome with fetal chondrodysplasia
Pierre Robin syndrome with fetal chondrodysplasia 		3 0 2 9.5E-02 0 0
CUI: C3697376
Disease: Oculoskeletal dysplasia
Oculoskeletal dysplasia 		3 0 2 9.5E-02 0 0
CUI: C1846449
Disease: Irregular epiphyses
Irregular epiphyses 		15 0 3 9.4E-02 0 0
CUI: C1846803
Disease: Small epiphyses
Small epiphyses 		15 0 3 9.4E-02 0 0
CUI: C1860405
Disease: Snowflake vitreoretinal degeneration
Snowflake vitreoretinal degeneration 		15 1 3 9.4E-02 1 0.17
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		40 0 5 9.1E-02 0 0
CUI: C1858084
Disease: STICKLER SYNDROME, TYPE II (disorder)
STICKLER SYNDROME, TYPE II (disorder) 		4 0 2 9.1E-02 0 0
CUI: C2749582
Disease: Dumbbell-shaped long bone
Dumbbell-shaped long bone 		4 0 2 9.1E-02 0 0
CUI: C4551479
Disease: Schwartz-Jampel Syndrome, Type 1
Schwartz-Jampel Syndrome, Type 1 		16 0 3 9.1E-02 0 0
CUI: C0339546
Disease: Retinal Pigment Epithelial Detachment
Retinal Pigment Epithelial Detachment 		17 0 3 8.8E-02 0 0
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		148 0 13 8.4E-02 0 0
CUI: C0472761
Disease: Homozygous alpha thalassemia
Homozygous alpha thalassemia 		19 0 3 8.3E-02 0 0
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		6 0 2 8.3E-02 0 0
CUI: C2677299
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder)
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder) 		6 0 2 8.3E-02 0 0
CUI: C4021630
Disease: Broad long bones
Broad long bones 		6 0 2 8.3E-02 0 0
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		59 0 6 8.2E-02 0 0
CUI: C0266568
Disease: Persistent Hyperplastic Primary Vitreous
Persistent Hyperplastic Primary Vitreous 		33 0 4 8.2E-02 0 0
CUI: C3541456
Disease: Spondyloepiphyseal Dysplasia Tarda, X-Linked
Spondyloepiphyseal Dysplasia Tarda, X-Linked 		20 0 3 8.1E-02 0 0
CUI: C1827700
Disease: Luxation of lens
Luxation of lens 		7 0 2 8.0E-02 0 0