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 1 1 0.20 1 0.20
CUI: C0020581
Disease: Hyphema
Hyphema 		1 1 1 0.20 1 0.20
CUI: C0024236
Disease: Lymphedema
Lymphedema 		1 0 1 0.20 0 0
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		1 0 1 0.20 0 0
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		1 0 1 0.20 0 0
CUI: C0233286
Disease: Frank Breech Presentation
Frank Breech Presentation 		1 1 1 0.20 1 0.20
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia 		1 0 1 0.20 0 0
CUI: C0271055
Disease: Rhegmatogenous retinal detachment
Rhegmatogenous retinal detachment 		1 1 1 0.20 1 0.20
CUI: C0432214
Disease: Namaqualand hip dysplasia
Namaqualand hip dysplasia 		1 0 1 0.20 0 0
CUI: C0476369
Disease: Echocardiogram abnormal
Echocardiogram abnormal 		1 1 1 0.20 1 0.20
CUI: C0542428
Disease: Hypochondrogenesis
Hypochondrogenesis 		1 0 1 0.20 0 0
CUI: C0796173
Disease: Spondyloperipheral dysplasia short ulna
Spondyloperipheral dysplasia short ulna 		1 0 1 0.20 0 0
CUI: C1835265
Disease: Lymphedema, microcephaly and chorioretinopathy syndrome
Lymphedema, microcephaly and chorioretinopathy syndrome 		1 22 1 0.20 1 3.8E-02
CUI: C1835437
Disease: Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type 		1 0 1 0.20 0 0
CUI: C1836080
Disease: Stickler Syndrome, Type I, Nonsyndromic Ocular
Stickler Syndrome, Type I, Nonsyndromic Ocular 		1 0 1 0.20 0 0
CUI: C1836081
Disease: RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT
RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT 		1 0 1 0.20 0 0
CUI: C1836683
Disease: Czech dysplasia, metatarsal type
Czech dysplasia, metatarsal type 		1 0 1 0.20 0 0
CUI: C1837501
Disease: Microcephaly, Primary Autosomal Recessive, 5
Microcephaly, Primary Autosomal Recessive, 5 		1 81 1 0.20 1 1.2E-02
CUI: C1844509
Disease: Antegonial notching of mandible
Antegonial notching of mandible 		1 1 1 0.20 1 0.20
CUI: C1846442
Disease: Hypoplastic acetabulae
Hypoplastic acetabulae 		1 0 1 0.20 0 0
CUI: C1851536
Disease: Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness 		1 0 1 0.20 0 0
CUI: C1852989
Disease: Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia 		1 0 1 0.20 0 0
CUI: C1859506
Disease: Acute hyperammonemia
Acute hyperammonemia 		1 1 1 0.20 1 0.20
CUI: C1860191
Disease: Absent vertebral body mineralization
Absent vertebral body mineralization 		1 0 1 0.20 0 0
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		1 21 1 0.20 1 4.0E-02