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: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		28 27 16 0.55 5 0.17
CUI: C0344290
Disease: Vitreoretinal degeneration
Vitreoretinal degeneration 		20 0 6 0.19 0 0
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia 		27 0 7 0.19 0 0
CUI: C1848488
Disease: Pierre Robin syndrome with fetal chondrodysplasia
Pierre Robin syndrome with fetal chondrodysplasia 		3 0 3 0.18 0 0
CUI: C1842153
Disease: Irregular vertebral endplates
Irregular vertebral endplates 		24 0 6 0.17 0 0
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia 		4 0 3 0.17 0 0
CUI: C1858084
Disease: STICKLER SYNDROME, TYPE II (disorder)
STICKLER SYNDROME, TYPE II (disorder) 		4 0 3 0.17 0 0
CUI: C1691779
Disease: Sensory hearing loss
Sensory hearing loss 		14 0 4 0.15 0 0
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		19 0 4 0.12 0 0
CUI: C0038015
Disease: Spondyloepiphyseal Dysplasia
Spondyloepiphyseal Dysplasia 		29 0 5 0.12 0 0
CUI: C4021787
Disease: Abnormal diaphysis morphology
Abnormal diaphysis morphology 		11 0 3 0.12 0 0
CUI: C0265235
Disease: Marshall syndrome
Marshall syndrome 		2 0 2 0.12 0 0
CUI: C1855310
Disease: Megaepiphyseal dwarfism
Megaepiphyseal dwarfism 		2 0 2 0.12 0 0
CUI: C1861481
Disease: Stickler syndrome, type 3
Stickler syndrome, type 3 		2 0 2 0.12 0 0
CUI: C4025050
Disease: Irregular distal femoral epiphysis
Irregular distal femoral epiphysis 		2 0 2 0.12 0 0
CUI: C4025356
Disease: Abnormal vitreous humor morphology
Abnormal vitreous humor morphology 		2 0 2 0.12 0 0
CUI: C0155366
Disease: Vitreous degeneration
Vitreous degeneration 		3 0 2 0.11 0 0
CUI: C0264700
Disease: Acute Inferior Myocardial Infarction
Acute Inferior Myocardial Infarction 		3 0 2 0.11 0 0
CUI: C0265282
Disease: Fibrochondrogenesis
Fibrochondrogenesis 		3 0 2 0.11 0 0
CUI: C3697376
Disease: Oculoskeletal dysplasia
Oculoskeletal dysplasia 		3 0 2 0.11 0 0
CUI: C4024934
Disease: Cerebellar medulloblastoma
Cerebellar medulloblastoma 		13 0 3 0.11 0 0
CUI: C4520892
Disease: Otospondylomegaepiphyseal dysplasia
Otospondylomegaepiphyseal dysplasia 		3 0 2 0.11 0 0
CUI: C1859447
Disease: Hypoplastic ischia
Hypoplastic ischia 		14 0 3 0.11 0 0
CUI: C2749582
Disease: Dumbbell-shaped long bone
Dumbbell-shaped long bone 		4 0 2 0.11 0 0
CUI: C1846449
Disease: Irregular epiphyses
Irregular epiphyses 		15 0 3 0.10 0 0