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: C0040458
Disease: Unerupted tooth
Unerupted tooth
5 0 2 0.18 0 0
Anemia due to decreased red cell production
1 0 1 0.12 0 0
CUI: C0751740
Disease: Lenticulostriate Vasculopathy
Lenticulostriate Vasculopathy
1 0 1 0.12 0 0
CUI: C1152136
Disease: sucrose-phosphate synthase activity
sucrose-phosphate synthase activity
1 0 1 0.12 0 0
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis
1 0 1 0.12 0 0
CUI: C1840062
Disease: Hypoplasia of the lesser trochanter
Hypoplasia of the lesser trochanter
1 0 1 0.12 0 0
Progressive alveolar ridge hypertropy
1 0 1 0.12 0 0
Lower thoracic interpediculate narrowness
1 0 1 0.12 0 0
CUI: C1854941
Disease: Beaking of vertebral bodies T12-L3
Beaking of vertebral bodies T12-L3
1 0 1 0.12 0 0
CUI: C1854948
Disease: Varus deformity of humeral neck
Varus deformity of humeral neck
1 0 1 0.12 0 0
CUI: C1854952
Disease: Bullet-shaped phalanges of the hand
Bullet-shaped phalanges of the hand
1 0 1 0.12 0 0
Lateral displacement of the femoral head
1 0 1 0.12 0 0
CUI: C1860156
Disease: Lateral displacement of patellae
Lateral displacement of patellae
1 0 1 0.12 0 0
Patella aplasia, coxa vara, tarsal synostosis
1 0 1 0.12 0 0
CUI: C1969286
Disease: Hypoplastic distal radial epiphyses
Hypoplastic distal radial epiphyses
1 0 1 0.12 0 0
Expanded phalanges with widened medullary cavities
1 0 1 0.12 0 0
Expanded metacarpals with widened medullary cavities
1 0 1 0.12 0 0
Expanded metatarsals with widened medullary cavities
1 0 1 0.12 0 0
CUI: C1969291
Disease: Aortic arch calcification
Aortic arch calcification
1 0 1 0.12 0 0
Mucolipidosis III Alpha Beta, Atypical
1 0 1 0.12 0 0
Myeloid Proliferations Associated with Down Syndrome
1 0 1 0.12 0 0
CUI: C2931894
Disease: Mucolipidosis 2
Mucolipidosis 2
1 0 1 0.12 0 0
CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME
1 0 1 0.12 0 0
CHROMOSOME 17q23.1-q23.2 DUPLICATION SYNDROME
1 0 1 0.12 0 0
CUI: C3267190
Disease: Fetal thrombotic vasculopathy
Fetal thrombotic vasculopathy
1 0 1 0.12 0 0