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: C1846061
Disease: Infancy onset short-trunk short stature
Infancy onset short-trunk short stature 		1 0 1 0.50 0 0
CUI: C4073246
Disease: Abnormal cricoid cartilage morphology
Abnormal cricoid cartilage morphology 		1 0 1 0.50 0 0
CUI: C4280276
Disease: Cleft alveolar process of maxilla
Cleft alveolar process of maxilla 		1 0 1 0.50 0 0
CUI: C4023411
Disease: Hemifacial hypoplasia
Hemifacial hypoplasia 		2 0 1 0.33 0 0
CUI: C1866207
Disease: Dysplastic aortic valve
Dysplastic aortic valve 		3 0 1 0.25 0 0
CUI: C0265881
Disease: Congenital hypoplasia of aortic arch
Congenital hypoplasia of aortic arch 		4 0 1 0.20 0 0
CUI: C1168239
Disease: Asymmetry of the ears
Asymmetry of the ears 		4 0 1 0.20 0 0
CUI: C4024165
Disease: Prominent ear helix
Prominent ear helix 		4 3 1 0.20 1 7.7E-02
CUI: C0266030
Disease: Supernumerary mesiodens tooth
Supernumerary mesiodens tooth 		5 0 1 0.17 0 0
CUI: C1857278
Disease: Partial or complete agenesis of corpus callosum
Partial or complete agenesis of corpus callosum 		5 0 1 0.17 0 0
CUI: C1854409
Disease: Naevus flammeus of the eyelid
Naevus flammeus of the eyelid 		6 0 1 0.14 0 0
CUI: C0406645
Disease: Amyopathic dermatomyositis
Amyopathic dermatomyositis 		7 0 1 0.12 0 0
CUI: C0431692
Disease: Bilateral renal hypoplasia
Bilateral renal hypoplasia 		8 0 1 0.11 0 0
CUI: C1832127
Disease: Square face
Square face 		8 0 1 0.11 0 0
CUI: C0006131
Disease: Branchioma
Branchioma 		10 0 1 9.1E-02 0 0
CUI: C0158779
Disease: Cervical rib
Cervical rib 		11 0 1 8.3E-02 0 0
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		11 0 1 8.3E-02 0 0
CUI: C4023343
Disease: Nasogastric tube feeding in infancy
Nasogastric tube feeding in infancy 		12 0 1 7.7E-02 0 0
CUI: C4551487
Disease: Submucous cleft palate
Submucous cleft palate 		13 0 1 7.1E-02 0 0
CUI: C0548883
Disease: Low frustration tolerance
Low frustration tolerance 		14 0 1 6.7E-02 0 0
CUI: C1849025
Disease: Oval face
Oval face 		14 0 1 6.7E-02 0 0
CUI: C0221209
Disease: Pelvic kidney
Pelvic kidney 		15 0 1 6.2E-02 0 0
CUI: C3279571
Disease: Ectopic posterior pituitary
Ectopic posterior pituitary 		16 0 1 5.9E-02 0 0
CUI: C0037293
Disease: Skin tag
Skin tag 		17 0 1 5.6E-02 0 0
CUI: C1834060
Disease: Short middle phalanx of the 5th finger
Short middle phalanx of the 5th finger 		17 0 1 5.6E-02 0 0