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: C1861388
Disease: Short 5th metacarpal
Short 5th metacarpal 		10 3 1 1.0E-01 1 2.2E-02
CUI: C4021959
Disease: Round ear
Round ear 		10 4 1 1.0E-01 1 2.2E-02
CUI: C0423808
Disease: Brachyonychia
Brachyonychia 		11 2 1 9.1E-02 1 2.3E-02
CUI: C1842155
Disease: Flat capital femoral epiphysis
Flat capital femoral epiphysis 		11 0 1 9.1E-02 0 0
CUI: C1873509
Disease: Hypotrichosis of the scalp
Hypotrichosis of the scalp 		12 1 1 8.3E-02 1 2.3E-02
CUI: C4281771
Disease: Thin eyebrow
Thin eyebrow 		12 0 1 8.3E-02 0 0
CUI: C0206725
Disease: Subependymal Glioma
Subependymal Glioma 		13 0 1 7.7E-02 0 0
CUI: C0520571
Disease: Fibrosis of bile duct
Fibrosis of bile duct 		13 0 1 7.7E-02 0 0
CUI: C1856118
Disease: Prominent nasal tip
Prominent nasal tip 		13 0 1 7.7E-02 0 0
CUI: C0221261
Disease: Koilonychia
Koilonychia 		14 0 1 7.1E-02 0 0
CUI: C4023915
Disease: Abnormally low-pitched voice
Abnormally low-pitched voice 		14 0 1 7.1E-02 0 0
CUI: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome 		16 3 1 6.2E-02 1 2.2E-02
CUI: C1844809
Disease: Thick nasal alae
Thick nasal alae 		17 0 1 5.9E-02 0 0
CUI: C1849221
Disease: Fair hair
Fair hair 		17 5 1 5.9E-02 1 2.1E-02
CUI: C1842878
Disease: Short 5th finger
Short 5th finger 		18 3 1 5.6E-02 1 2.2E-02
CUI: C0878660
Disease: Proportionate short stature
Proportionate short stature 		19 11 1 5.3E-02 1 1.9E-02
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible 		19 0 1 5.3E-02 0 0
CUI: C1857206
Disease: Sparse lateral eyebrow
Sparse lateral eyebrow 		20 0 1 5.0E-02 0 0
CUI: C1857482
Disease: Slender finger
Slender finger 		20 5 1 5.0E-02 1 2.1E-02
CUI: C1859480
Disease: Cone-shaped epiphyses of the phalanges of the hand
Cone-shaped epiphyses of the phalanges of the hand 		20 0 1 5.0E-02 0 0
CUI: C1442965
Disease: Avascular necrosis of the capital femoral epiphysis
Avascular necrosis of the capital femoral epiphysis 		23 0 1 4.3E-02 0 0
CUI: C1849140
Disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE 		23 0 1 4.3E-02 0 0
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia 		27 17 1 3.7E-02 1 1.7E-02
CUI: C1856963
Disease: Fragile nails
Fragile nails 		27 0 1 3.7E-02 0 0
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		30 46 1 3.3E-02 1 1.1E-02