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: C0263925
Disease: Iliac crest spur
Iliac crest spur
1 0 1 0.33 0 0
CUI: C1152136
Disease: sucrose-phosphate synthase activity
sucrose-phosphate synthase activity
1 0 1 0.33 0 0
Thickening of the lateral border of the scapula
1 0 1 0.33 0 0
Disproportionate prominence of the femoral medial condyle
1 0 1 0.33 0 0
CUI: C1840062
Disease: Hypoplasia of the lesser trochanter
Hypoplasia of the lesser trochanter
1 0 1 0.33 0 0
CUI: C1840068
Disease: Patellar hypoplasia
Patellar hypoplasia
5 0 2 0.33 0 0
CUI: C1853573
Disease: Hypoplastic inferior pubic rami
Hypoplastic inferior pubic rami
1 0 1 0.33 0 0
CUI: C1868158
Disease: Absence of pectoralis minor muscle
Absence of pectoralis minor muscle
1 0 1 0.33 0 0
Patella aplasia, coxa vara, tarsal synostosis
1 0 1 0.33 0 0
CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME
1 0 1 0.33 0 0
CHROMOSOME 17q23.1-q23.2 DUPLICATION SYNDROME
1 0 1 0.33 0 0
CUI: C3805764
Disease: Biceps aplasia
Biceps aplasia
1 0 1 0.33 0 0
CUI: C3805765
Disease: Quadriceps aplasia
Quadriceps aplasia
1 0 1 0.33 0 0
CUI: C3810484
Disease: Triceps aplasia
Triceps aplasia
1 0 1 0.33 0 0
CUI: C4024210
Disease: Lester's sign
Lester's sign
1 0 1 0.33 0 0
CUI: C4024622
Disease: Wide capital femoral epiphyses
Wide capital femoral epiphyses
1 0 1 0.33 0 0
CUI: C4025048
Disease: Elongated radius
Elongated radius
1 0 1 0.33 0 0
CUI: C4025155
Disease: Talocalcaneal synostosis
Talocalcaneal synostosis
1 0 1 0.33 0 0
CUI: C0002447
Disease: Amelia
Amelia
2 0 1 0.25 0 0
CUI: C0403548
Disease: Salcedo syndrome
Salcedo syndrome
2 0 1 0.25 0 0
CUI: C1834384
Disease: Glenoid fossa hypoplasia
Glenoid fossa hypoplasia
2 0 1 0.25 0 0
Goldberg-Shprintzen megacolon syndrome
2 0 1 0.25 0 0
CUI: C1849358
Disease: Enlarged labia minora
Enlarged labia minora
2 0 1 0.25 0 0
CUI: C1860826
Disease: Coxa Magna
Coxa Magna
2 0 1 0.25 0 0
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome
2 13 1 0.25 1 4.5E-02