Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Osteogenesis imperfecta with blue sclerae AND normal teeth
1 0 1 3.2E-02 0 0
CUI: C0270149
Disease: Perinatal respiratory distress
Perinatal respiratory distress
1 0 1 3.2E-02 0 0
CUI: C0270958
Disease: Kocher-Debre-Semelaigne syndrome
Kocher-Debre-Semelaigne syndrome
1 0 1 3.2E-02 0 0
CUI: C0423729
Disease: Chest pain on breathing
Chest pain on breathing
1 0 1 3.2E-02 0 0
CUI: C0558384
Disease: Arthritis/arthrosis
Arthritis/arthrosis
1 0 1 3.2E-02 0 0
CUI: C1112616
Disease: Loss of proprioception
Loss of proprioception
1 0 1 3.2E-02 0 0
CUI: C1152136
Disease: sucrose-phosphate synthase activity
sucrose-phosphate synthase activity
1 0 1 3.2E-02 0 0
CUI: C1275239
Disease: Dermatomyofibroma
Dermatomyofibroma
1 0 1 3.2E-02 0 0
CUI: C1394142
Disease: Cortical hyperostosis
Cortical hyperostosis
1 0 1 3.2E-02 0 0
CUI: C1411006
Disease: Finger contracture
Finger contracture
1 0 1 3.2E-02 0 0
Periosteal thickening of long tubular bones
1 0 1 3.2E-02 0 0
B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations
1 0 1 3.2E-02 0 0
Muscular Dystrophy, Congenital, Type 1D
1 0 1 3.2E-02 0 0
CUI: C1840062
Disease: Hypoplasia of the lesser trochanter
Hypoplasia of the lesser trochanter
1 0 1 3.2E-02 0 0
CUI: C1840365
Disease: King Denborough syndrome
King Denborough syndrome
1 0 1 3.2E-02 0 0
Lethal Congenital Contracture Syndrome 2
1 0 1 3.2E-02 0 0
CUI: C1843507
Disease: Hypoplasia of the ventral pons
Hypoplasia of the ventral pons
1 0 1 3.2E-02 0 0
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
1 0 1 3.2E-02 0 0
CUI: C1848473
Disease: Whistling appearance
Whistling appearance
1 0 1 3.2E-02 0 0
CUI: C1850871
Disease: Hypoplasia of the pyramidal tract
Hypoplasia of the pyramidal tract
1 0 1 3.2E-02 0 0
CUI: C1852924
Disease: OI-EDS Combined Syndrome
OI-EDS Combined Syndrome
1 0 1 3.2E-02 0 0
PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder)
1 0 1 3.2E-02 0 0
Ehlers-Danlos syndrome, cardiac valvular form
1 0 1 3.2E-02 0 0
Olivopontocerebellar hypoplasia, fetal-onset
1 0 1 3.2E-02 0 0
CUI: C1859069
Disease: Brittle Bone Disorder
Brittle Bone Disorder
1 0 1 3.2E-02 0 0