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: C4025234
Disease: Duplication of internal organs
Duplication of internal organs 		2 0 1 0.20 0 0
CUI: C4025667
Disease: Partial absence of cerebellar vermis
Partial absence of cerebellar vermis 		2 0 1 0.20 0 0
CUI: C0011998
Disease: Diastema of Teeth
Diastema of Teeth 		9 0 2 0.18 0 0
CUI: C0220730
Disease: Fryns syndrome
Fryns syndrome 		3 0 1 0.17 0 0
CUI: C0266324
Disease: Congenital dilatation of ureter
Congenital dilatation of ureter 		3 0 1 0.17 0 0
CUI: C1861544
Disease: Lower lip pit
Lower lip pit 		3 0 1 0.17 0 0
CUI: C4021300
Disease: Prominent palatine ridges
Prominent palatine ridges 		3 0 1 0.17 0 0
CUI: C0266092
Disease: Congenital lip pits
Congenital lip pits 		4 0 1 0.14 0 0
CUI: C0266196
Disease: Malrotation of colon
Malrotation of colon 		4 0 1 0.14 0 0
CUI: C0452136
Disease: Conductive hearing loss, bilateral
Conductive hearing loss, bilateral 		4 0 1 0.14 0 0
CUI: C1862157
Disease: Proportionate shortening of all digits
Proportionate shortening of all digits 		4 0 1 0.14 0 0
CUI: C1865305
Disease: Hypoplastic superior helix
Hypoplastic superior helix 		4 0 1 0.14 0 0
CUI: C1970479
Disease: Branchiootorenal Syndrome 2
Branchiootorenal Syndrome 2 		4 0 1 0.14 0 0
CUI: C3280768
Disease: Abnormality of the posterior cranial fossa
Abnormality of the posterior cranial fossa 		4 0 1 0.14 0 0
CUI: C1836678
Disease: Abnormality of the middle ear ossicles
Abnormality of the middle ear ossicles 		5 0 1 0.12 0 0
CUI: C1853205
Disease: Glycosylphosphatidylinositol deficiency
Glycosylphosphatidylinositol deficiency 		5 0 1 0.12 0 0
CUI: C4024877
Disease: Hyperpigmented/hypopigmented macules
Hyperpigmented/hypopigmented macules 		5 0 1 0.12 0 0
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		5 0 1 0.12 0 0
CUI: C4021020
Disease: Non-midline cleft lip
Non-midline cleft lip 		16 0 2 0.11 0 0
CUI: C4025884
Disease: Abnormality of upper lip
Abnormality of upper lip 		6 0 1 0.11 0 0
CUI: C0238300
Disease: Stenosis of nasolacrimal duct
Stenosis of nasolacrimal duct 		7 0 1 1.0E-01 0 0
CUI: C2676973
Disease: Dilatated internal auditory canal
Dilatated internal auditory canal 		7 0 1 1.0E-01 0 0
CUI: C2678303
Disease: Hoarse cry
Hoarse cry 		7 0 1 1.0E-01 0 0
CUI: C4022737
Disease: Neurodevelopmental abnormality
Neurodevelopmental abnormality 		7 0 1 1.0E-01 0 0
CUI: C1832127
Disease: Square face
Square face 		8 0 1 9.1E-02 0 0