Source: INFERRED ×
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: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		1 11 1 1.00 3 0.25
CUI: C0233286
Disease: Frank Breech Presentation
Frank Breech Presentation 		1 0 1 1.00 0 0
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia 		1 6 1 1.00 3 0.43
CUI: C0432214
Disease: Namaqualand hip dysplasia
Namaqualand hip dysplasia 		1 4 1 1.00 3 0.60
CUI: C0542428
Disease: Hypochondrogenesis
Hypochondrogenesis 		1 0 1 1.00 0 0
CUI: C0796173
Disease: Spondyloperipheral dysplasia short ulna
Spondyloperipheral dysplasia short ulna 		1 8 1 1.00 4 0.50
CUI: C1834953
Disease: Lumbar kyphoscoliosis
Lumbar kyphoscoliosis 		1 0 1 1.00 0 0
CUI: C1834961
Disease: Flattened, squared-off epiphyses of tubular bones
Flattened, squared-off epiphyses of tubular bones 		1 0 1 1.00 0 0
CUI: C1835442
Disease: Decreased cranial base ossification
Decreased cranial base ossification 		1 0 1 1.00 0 0
CUI: C1835444
Disease: Disc-like vertebral bodies
Disc-like vertebral bodies 		1 0 1 1.00 0 0
CUI: C1835446
Disease: Severe limb shortening
Severe limb shortening 		1 0 1 1.00 0 0
CUI: C1836080
Disease: Stickler Syndrome, Type I, Nonsyndromic Ocular
Stickler Syndrome, Type I, Nonsyndromic Ocular 		1 8 1 1.00 3 0.33
CUI: C1836081
Disease: RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT
RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT 		1 2 1 1.00 1 0.20
CUI: C1836683
Disease: Czech dysplasia, metatarsal type
Czech dysplasia, metatarsal type 		1 4 1 1.00 3 0.60
CUI: C1851536
Disease: Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness 		1 4 1 1.00 3 0.60
CUI: C1852989
Disease: Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia 		1 0 1 1.00 0 0
CUI: C1860191
Disease: Absent vertebral body mineralization
Absent vertebral body mineralization 		1 0 1 1.00 0 0
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		1 21 1 1.00 3 0.14
CUI: C4020907
Disease: Metaphyseal dappling
Metaphyseal dappling 		1 0 1 1.00 0 0
CUI: C4020953
Disease: Abnormality of vertebral epiphysis morphology
Abnormality of vertebral epiphysis morphology 		1 0 1 1.00 0 0
CUI: C4021259
Disease: Limitation of knee mobility
Limitation of knee mobility 		1 0 1 1.00 0 0
CUI: C4021499
Disease: Short distal phalanx of the 4th finger
Short distal phalanx of the 4th finger 		1 0 1 1.00 0 0
CUI: C4021681
Disease: Short distal phalanx of the 3rd finger
Short distal phalanx of the 3rd finger 		1 0 1 1.00 0 0
CUI: C4021847
Disease: Abnormal cartilage collagen
Abnormal cartilage collagen 		1 0 1 1.00 0 0
CUI: C4021906
Disease: Splayed epiphyses
Splayed epiphyses 		1 0 1 1.00 0 0