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: C0006262
Disease: Bronchial Fistula
Bronchial Fistula 		1 0 1 0.50 0 0
CUI: C0158564
Disease: Congenital vitreous anomaly
Congenital vitreous anomaly 		1 0 1 0.50 0 0
CUI: C0233286
Disease: Frank Breech Presentation
Frank Breech Presentation 		1 0 1 0.50 0 0
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia 		4 6 2 0.50 3 0.27
CUI: C0268357
Disease: Osteogenesis imperfecta, type 1A
Osteogenesis imperfecta, type 1A 		1 0 1 0.50 0 0
CUI: C0701825
Disease: Acute mastoiditis
Acute mastoiditis 		1 0 1 0.50 0 0
CUI: C1834953
Disease: Lumbar kyphoscoliosis
Lumbar kyphoscoliosis 		1 0 1 0.50 0 0
CUI: C1834961
Disease: Flattened, squared-off epiphyses of tubular bones
Flattened, squared-off epiphyses of tubular bones 		1 0 1 0.50 0 0
CUI: C1835437
Disease: Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type 		1 4 1 0.50 4 0.50
CUI: C1835442
Disease: Decreased cranial base ossification
Decreased cranial base ossification 		1 0 1 0.50 0 0
CUI: C1835444
Disease: Disc-like vertebral bodies
Disc-like vertebral bodies 		1 0 1 0.50 0 0
CUI: C1835446
Disease: Severe limb shortening
Severe limb shortening 		1 0 1 0.50 0 0
CUI: C1836080
Disease: Stickler Syndrome, Type I, Nonsyndromic Ocular
Stickler Syndrome, Type I, Nonsyndromic Ocular 		1 9 1 0.50 3 0.21
CUI: C1836081
Disease: RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT
RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT 		1 2 1 0.50 1 0.11
CUI: C1836683
Disease: Czech dysplasia, metatarsal type
Czech dysplasia, metatarsal type 		1 4 1 0.50 3 0.33
CUI: C1851536
Disease: Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness 		1 4 1 0.50 3 0.33
CUI: C1852989
Disease: Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia 		1 0 1 0.50 0 0
CUI: C1860191
Disease: Absent vertebral body mineralization
Absent vertebral body mineralization 		1 0 1 0.50 0 0
CUI: C1866688
Disease: Spondylometaphyseal dysplasia, Algerian type
Spondylometaphyseal dysplasia, Algerian type 		1 0 1 0.50 0 0
CUI: C3554021
Disease: HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA 		1 0 1 0.50 0 0
CUI: C4020803
Disease: Abnormal type II collagen
Abnormal type II collagen 		1 0 1 0.50 0 0
CUI: C4020907
Disease: Metaphyseal dappling
Metaphyseal dappling 		1 0 1 0.50 0 0
CUI: C4020953
Disease: Abnormality of vertebral epiphysis morphology
Abnormality of vertebral epiphysis morphology 		1 0 1 0.50 0 0
CUI: C4021259
Disease: Limitation of knee mobility
Limitation of knee mobility 		1 0 1 0.50 0 0
CUI: C4021499
Disease: Short distal phalanx of the 4th finger
Short distal phalanx of the 4th finger 		1 0 1 0.50 0 0