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 0.33 0 0
CUI: C0158564
Disease: Congenital vitreous anomaly
Congenital vitreous anomaly
1 0 1 0.33 0 0
CUI: C0233286
Disease: Frank Breech Presentation
Frank Breech Presentation
1 0 1 0.33 0 0
CUI: C0268357
Disease: Osteogenesis imperfecta, type 1A
Osteogenesis imperfecta, type 1A
1 0 1 0.33 0 0
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
1 10 1 0.33 9 0.82
Localized recessive dystrophic epidermolysis bullosa
1 0 1 0.33 0 0
Generalized dystrophic epidermolysis bullosa
1 0 1 0.33 0 0
CUI: C0701825
Disease: Acute mastoiditis
Acute mastoiditis
1 0 1 0.33 0 0
CUI: C1834953
Disease: Lumbar kyphoscoliosis
Lumbar kyphoscoliosis
1 0 1 0.33 0 0
Flattened, squared-off epiphyses of tubular bones
1 0 1 0.33 0 0
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
1 0 1 0.33 0 0
CUI: C1835442
Disease: Decreased cranial base ossification
Decreased cranial base ossification
1 0 1 0.33 0 0
CUI: C1835444
Disease: Disc-like vertebral bodies
Disc-like vertebral bodies
1 0 1 0.33 0 0
CUI: C1835446
Disease: Severe limb shortening
Severe limb shortening
1 0 1 0.33 0 0
Stickler Syndrome, Type I, Nonsyndromic Ocular
1 0 1 0.33 0 0
RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT
1 0 1 0.33 0 0
CUI: C1836683
Disease: Czech dysplasia, metatarsal type
Czech dysplasia, metatarsal type
1 0 1 0.33 0 0
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness
1 0 1 0.33 0 0
CUI: C1843761
Disease: TOENAIL DYSTROPHY, ISOLATED
TOENAIL DYSTROPHY, ISOLATED
1 13 1 0.33 9 0.64
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness
1 0 1 0.33 0 0
Transient bullous dermolysis of the newborn
1 13 1 0.33 9 0.64
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
1 0 1 0.33 0 0
EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL RECESSIVE
1 0 1 0.33 0 0
Absent vertebral body mineralization
1 0 1 0.33 0 0
Spondylometaphyseal dysplasia, Algerian type
1 0 1 0.33 0 0