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: C1846434
Disease: Hypoplastic scapulae
Hypoplastic scapulae 		18 0 7 0.19 0 0
CUI: C4023457
Disease: Short face
Short face 		6 0 4 0.15 0 0
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		39 0 8 0.14 0 0
CUI: C0399570
Disease: Mandibular condyle aplasia
Mandibular condyle aplasia 		3 0 3 0.12 0 0
CUI: C1848488
Disease: Pierre Robin syndrome with fetal chondrodysplasia
Pierre Robin syndrome with fetal chondrodysplasia 		3 0 3 0.12 0 0
CUI: C4021376
Disease: Cleft helix
Cleft helix 		3 0 3 0.12 0 0
CUI: C4021380
Disease: Abnormality of the crus of the helix
Abnormality of the crus of the helix 		3 0 3 0.12 0 0
CUI: C1850135
Disease: Flared metaphysis
Flared metaphysis 		32 0 6 0.12 0 0
CUI: C0007302
Disease: Cartilage Diseases
Cartilage Diseases 		23 0 5 0.12 0 0
CUI: C0399572
Disease: Hypoplasia of mandibular condyle
Hypoplasia of mandibular condyle 		4 0 3 0.12 0 0
CUI: C1858084
Disease: STICKLER SYNDROME, TYPE II (disorder)
STICKLER SYNDROME, TYPE II (disorder) 		4 0 3 0.12 0 0
CUI: C1865295
Disease: Auriculo-condylar syndrome
Auriculo-condylar syndrome 		4 0 3 0.12 0 0
CUI: C1865318
Disease: Abnormality of the temporomandibular joint
Abnormality of the temporomandibular joint 		4 0 3 0.12 0 0
CUI: C4024626
Disease: Aplasia/Hypoplasia of the external ear
Aplasia/Hypoplasia of the external ear 		4 0 3 0.12 0 0
CUI: C4551996
Disease: Auriculocondylar syndrome 1
Auriculocondylar syndrome 1 		4 0 3 0.12 0 0
CUI: C1857074
Disease: Absent sternal ossification
Absent sternal ossification 		5 0 3 0.11 0 0
CUI: C4022171
Disease: Periauricular skin pits
Periauricular skin pits 		5 0 3 0.11 0 0
CUI: C1861218
Disease: Hypoplastic ilia
Hypoplastic ilia 		16 0 4 0.11 0 0
CUI: C0431420
Disease: Vein of Galen aneurysm
Vein of Galen aneurysm 		6 0 3 0.11 0 0
CUI: C1859682
Disease: Hypoplastic frontal sinuses
Hypoplastic frontal sinuses 		7 0 3 0.10 0 0
CUI: C4021242
Disease: Hypoplasia of the zygomatic bone
Hypoplasia of the zygomatic bone 		29 0 5 0.10 0 0
CUI: C0025988
Disease: Microglossia
Microglossia 		19 0 4 1.0E-01 0 0
CUI: C0085700
Disease: Chondromalacia
Chondromalacia 		8 0 3 1.0E-01 0 0
CUI: C0546968
Disease: Fistula of branchial cleft
Fistula of branchial cleft 		8 0 3 1.0E-01 0 0
CUI: C1853406
Disease: Difficulty in tongue movements
Difficulty in tongue movements 		8 0 3 1.0E-01 0 0