Source: CLINVAR ×
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: C0016242
Disease: Vitreous floaters
Vitreous floaters 		1 0 1 0.33 0 0
CUI: C0020581
Disease: Hyphema
Hyphema 		1 0 1 0.33 0 0
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		1 0 1 0.33 0 0
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		1 11 1 0.33 3 9.4E-02
CUI: C0233286
Disease: Frank Breech Presentation
Frank Breech Presentation 		1 0 1 0.33 0 0
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia 		1 6 1 0.33 3 0.11
CUI: C0271055
Disease: Rhegmatogenous retinal detachment
Rhegmatogenous retinal detachment 		1 0 1 0.33 0 0
CUI: C0432214
Disease: Namaqualand hip dysplasia
Namaqualand hip dysplasia 		1 4 1 0.33 3 0.12
CUI: C0542428
Disease: Hypochondrogenesis
Hypochondrogenesis 		1 0 1 0.33 0 0
CUI: C0796173
Disease: Spondyloperipheral dysplasia short ulna
Spondyloperipheral dysplasia short ulna 		1 8 1 0.33 4 0.14
CUI: C1835437
Disease: Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type 		1 4 1 0.33 3 0.12
CUI: C1836080
Disease: Stickler Syndrome, Type I, Nonsyndromic Ocular
Stickler Syndrome, Type I, Nonsyndromic Ocular 		1 8 1 0.33 3 0.10
CUI: C1836081
Disease: RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT
RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT 		1 2 1 0.33 1 4.0E-02
CUI: C1836683
Disease: Czech dysplasia, metatarsal type
Czech dysplasia, metatarsal type 		1 4 1 0.33 3 0.12
CUI: C1837657
Disease: Spondyloepiphyseal dysplasia, Omani type
Spondyloepiphyseal dysplasia, Omani type 		1 16 1 0.33 2 5.3E-02
CUI: C1844509
Disease: Antegonial notching of mandible
Antegonial notching of mandible 		1 0 1 0.33 0 0
CUI: C1846442
Disease: Hypoplastic acetabulae
Hypoplastic acetabulae 		1 0 1 0.33 0 0
CUI: C1851536
Disease: Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness 		1 4 1 0.33 3 0.12
CUI: C1852989
Disease: Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia 		1 0 1 0.33 0 0
CUI: C1860191
Disease: Absent vertebral body mineralization
Absent vertebral body mineralization 		1 0 1 0.33 0 0
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		1 21 1 0.33 3 7.1E-02
CUI: C3541456
Disease: Spondyloepiphyseal Dysplasia Tarda, X-Linked
Spondyloepiphyseal Dysplasia Tarda, X-Linked 		1 0 1 0.33 0 0
CUI: C3553368
Disease: Limited hip extension
Limited hip extension 		1 2 1 0.33 1 4.0E-02
CUI: C4021945
Disease: Abnormality of globe size
Abnormality of globe size 		1 0 1 0.33 0 0
CUI: C4023357
Disease: Maternal teratogenic exposure
Maternal teratogenic exposure 		1 0 1 0.33 0 0