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: C0399570
Disease: Mandibular condyle aplasia
Mandibular condyle aplasia 		3 0 3 0.75 0 0
CUI: C4021376
Disease: Cleft helix
Cleft helix 		3 0 3 0.75 0 0
CUI: C4021380
Disease: Abnormality of the crus of the helix
Abnormality of the crus of the helix 		3 0 3 0.75 0 0
CUI: C0399572
Disease: Hypoplasia of mandibular condyle
Hypoplasia of mandibular condyle 		4 0 3 0.60 0 0
CUI: C1865295
Disease: Auriculo-condylar syndrome
Auriculo-condylar syndrome 		4 0 3 0.60 0 0
CUI: C1865318
Disease: Abnormality of the temporomandibular joint
Abnormality of the temporomandibular joint 		4 0 3 0.60 0 0
CUI: C4024626
Disease: Aplasia/Hypoplasia of the external ear
Aplasia/Hypoplasia of the external ear 		4 0 3 0.60 0 0
CUI: C1865302
Disease: Cleft at the superior portion of the pinna
Cleft at the superior portion of the pinna 		2 0 2 0.50 0 0
CUI: C4022171
Disease: Periauricular skin pits
Periauricular skin pits 		5 0 3 0.50 0 0
CUI: C0431420
Disease: Vein of Galen aneurysm
Vein of Galen aneurysm 		6 0 3 0.43 0 0
CUI: C1853406
Disease: Difficulty in tongue movements
Difficulty in tongue movements 		8 0 3 0.33 0 0
CUI: C1865305
Disease: Hypoplastic superior helix
Hypoplastic superior helix 		4 0 2 0.33 0 0
CUI: C0156353
Disease: Uterovaginal prolapse
Uterovaginal prolapse 		1 0 1 0.25 0 0
CUI: C1275836
Disease: D - transposition of the great vessels
D - transposition of the great vessels 		1 0 1 0.25 0 0
CUI: C2748545
Disease: QUESTION MARK EARS, ISOLATED
QUESTION MARK EARS, ISOLATED 		1 0 1 0.25 0 0
CUI: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		1 0 1 0.25 0 0
CUI: C3279888
Disease: Frontal lobe atrophy
Frontal lobe atrophy 		1 0 1 0.25 0 0
CUI: C3553404
Disease: AURICULOCONDYLAR SYNDROME 2
AURICULOCONDYLAR SYNDROME 2 		1 9 1 0.25 5 0.45
CUI: C3810332
Disease: AURICULOCONDYLAR SYNDROME 3
AURICULOCONDYLAR SYNDROME 3 		1 0 1 0.25 0 0
CUI: C4304529
Disease: 5q14.3 microdeletion syndrome
5q14.3 microdeletion syndrome 		1 0 1 0.25 0 0
CUI: C4524149
Disease: Complicated atherosclerosis
Complicated atherosclerosis 		1 0 1 0.25 0 0
CUI: C0025210
Disease: Ocular melanosis
Ocular melanosis 		2 0 1 0.20 0 0
CUI: C0497307
Disease: Feeling depressed
Feeling depressed 		2 0 1 0.20 0 0
CUI: C1858493
Disease: FEBRILE CONVULSIONS, FAMILIAL, 4
FEBRILE CONVULSIONS, FAMILIAL, 4 		2 0 1 0.20 0 0
CUI: C1969656
Disease: MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 4 (disorder)
MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 4 (disorder) 		2 0 1 0.20 0 0