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: C1861481
Disease: Stickler syndrome, type 3
Stickler syndrome, type 3
2 0 2 1.00 0 0
Pierre Robin syndrome with fetal chondrodysplasia
3 0 2 0.67 0 0
CUI: C4520892
Disease: Otospondylomegaepiphyseal dysplasia
Otospondylomegaepiphyseal dysplasia
3 0 2 0.67 0 0
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: 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
Flattened, squared-off epiphyses of tubular bones
1 0 1 0.50 0 0
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
1 0 1 0.50 0 0
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
Stickler Syndrome, Type I, Nonsyndromic Ocular
1 0 1 0.50 0 0
RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT
1 0 1 0.50 0 0
CUI: C1836683
Disease: Czech dysplasia, metatarsal type
Czech dysplasia, metatarsal type
1 0 1 0.50 0 0
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness
1 0 1 0.50 0 0
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
1 0 1 0.50 0 0
STICKLER SYNDROME, TYPE II (disorder)
4 0 2 0.50 0 0
CUI: C1859116
Disease: Large tarsal bones
Large tarsal bones
1 0 1 0.50 0 0
Absent vertebral body mineralization
1 0 1 0.50 0 0
Spondylometaphyseal dysplasia, Algerian type
1 0 1 0.50 0 0
CUI: C3281128
Disease: FIBROCHONDROGENESIS 2
FIBROCHONDROGENESIS 2
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