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: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		5 0 2 0.18 0 0
CUI: C1850171
Disease: Neonatal short-limb short stature
Neonatal short-limb short stature 		12 0 3 0.18 0 0
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		7 0 2 0.15 0 0
CUI: C1835121
Disease: Premature osteoarthritis
Premature osteoarthritis 		8 0 2 0.14 0 0
CUI: C0008449
Disease: Congenital anomaly of cartilage
Congenital anomaly of cartilage 		9 0 2 0.13 0 0
CUI: C0410787
Disease: Hereditary Connective Tissue Disorder
Hereditary Connective Tissue Disorder 		9 0 2 0.13 0 0
CUI: C0423361
Disease: Posterior Vitreous Detachment
Posterior Vitreous Detachment 		9 0 2 0.13 0 0
CUI: C1867114
Disease: Craniofacial disproportion
Craniofacial disproportion 		9 0 2 0.13 0 0
CUI: C1849937
Disease: Disproportionate short-limb short stature
Disproportionate short-limb short stature 		35 0 5 0.13 0 0
CUI: C0019288
Disease: Hernia, Femoral
Hernia, Femoral 		18 0 3 0.13 0 0
CUI: C0006262
Disease: Bronchial Fistula
Bronchial Fistula 		1 0 1 0.12 0 0
CUI: C0158564
Disease: Congenital vitreous anomaly
Congenital vitreous anomaly 		1 0 1 0.12 0 0
CUI: C0233286
Disease: Frank Breech Presentation
Frank Breech Presentation 		1 0 1 0.12 0 0
CUI: C0265905
Disease: Agenesis of pulmonary artery
Agenesis of pulmonary artery 		1 0 1 0.12 0 0
CUI: C0268356
Disease: Osteogenesis imperfecta with blue sclerae AND normal teeth
Osteogenesis imperfecta with blue sclerae AND normal teeth 		1 0 1 0.12 0 0
CUI: C0268357
Disease: Osteogenesis imperfecta, type 1A
Osteogenesis imperfecta, type 1A 		1 0 1 0.12 0 0
CUI: C0410935
Disease: Wide cranial sutures
Wide cranial sutures 		10 0 2 0.12 0 0
CUI: C0701825
Disease: Acute mastoiditis
Acute mastoiditis 		1 0 1 0.12 0 0
CUI: C1275239
Disease: Dermatomyofibroma
Dermatomyofibroma 		1 0 1 0.12 0 0
CUI: C1394142
Disease: Cortical hyperostosis
Cortical hyperostosis 		1 0 1 0.12 0 0
CUI: C1834345
Disease: Periosteal thickening of long tubular bones
Periosteal thickening of long tubular bones 		1 0 1 0.12 0 0
CUI: C1834953
Disease: Lumbar kyphoscoliosis
Lumbar kyphoscoliosis 		1 0 1 0.12 0 0
CUI: C1834961
Disease: Flattened, squared-off epiphyses of tubular bones
Flattened, squared-off epiphyses of tubular bones 		1 0 1 0.12 0 0
CUI: C1835437
Disease: Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type 		1 0 1 0.12 0 0
CUI: C1835442
Disease: Decreased cranial base ossification
Decreased cranial base ossification 		1 0 1 0.12 0 0