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: C0271007
Disease: Phthisis bulbi
Phthisis bulbi 		11 0 7 0.21 0 0
CUI: C1849510
Disease: Prenatal movement abnormality
Prenatal movement abnormality 		11 0 7 0.21 0 0
CUI: C1860243
Disease: Abnormal sternal ossification
Abnormal sternal ossification 		6 0 6 0.20 0 0
CUI: C1860244
Disease: Malrotation of small bowel
Malrotation of small bowel 		7 0 6 0.19 0 0
CUI: C4023915
Disease: Abnormally low-pitched voice
Abnormally low-pitched voice 		14 0 7 0.19 0 0
CUI: C0796117
Disease: Pitt-Rogers-Danks Syndrome
Pitt-Rogers-Danks Syndrome 		8 0 6 0.19 0 0
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		8 0 6 0.19 0 0
CUI: C2673670
Disease: Curly eyelashes
Curly eyelashes 		15 0 7 0.18 0 0
CUI: C1839858
Disease: Periventricular cysts
Periventricular cysts 		9 0 6 0.18 0 0
CUI: C1860253
Disease: Pseudoepiphyses of the metacarpals
Pseudoepiphyses of the metacarpals 		9 0 6 0.18 0 0
CUI: C1849311
Disease: Short 1st metacarpal
Short 1st metacarpal 		18 0 7 0.17 0 0
CUI: C1844825
Disease: Hyperconvex fingernails
Hyperconvex fingernails 		12 0 6 0.17 0 0
CUI: C1848977
Disease: Short upper lip
Short upper lip 		12 0 6 0.17 0 0
CUI: C1968999
Disease: Rib segmentation abnormalities
Rib segmentation abnormalities 		12 0 6 0.17 0 0
CUI: C3887496
Disease: Oligodactyly
Oligodactyly 		20 0 7 0.16 0 0
CUI: C3495489
Disease: Rieger eye malformation sequence
Rieger eye malformation sequence 		13 0 6 0.16 0 0
CUI: C1271219
Disease: Congenital ectopic pupil
Congenital ectopic pupil 		14 0 6 0.16 0 0
CUI: C1860247
Disease: Prominent glabella
Prominent glabella 		14 0 6 0.16 0 0
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		67 0 13 0.15 0 0
CUI: C4025320
Disease: Craniofacial asymmetry
Craniofacial asymmetry 		16 0 6 0.15 0 0
CUI: C1840380
Disease: Persistent cavum septum pellucidum
Persistent cavum septum pellucidum 		17 0 6 0.15 0 0
CUI: C0395837
Disease: Stenosis of external auditory canal
Stenosis of external auditory canal 		25 4 7 0.15 2 0.29
CUI: C0728895
Disease: Absent finger
Absent finger 		26 0 7 0.14 0 0
CUI: C0566899
Disease: Small labia majora
Small labia majora 		35 0 8 0.14 0 0
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		86 0 14 0.14 0 0