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: C1848977
Disease: Short upper lip
Short upper lip 		12 0 9 0.20 0 0
CUI: C1860243
Disease: Abnormal sternal ossification
Abnormal sternal ossification 		6 0 6 0.15 0 0
CUI: C1860247
Disease: Prominent glabella
Prominent glabella 		14 0 7 0.15 0 0
CUI: C1860244
Disease: Malrotation of small bowel
Malrotation of small bowel 		7 0 6 0.14 0 0
CUI: C0796117
Disease: Pitt-Rogers-Danks Syndrome
Pitt-Rogers-Danks Syndrome 		8 0 6 0.14 0 0
CUI: C1840380
Disease: Persistent cavum septum pellucidum
Persistent cavum septum pellucidum 		17 0 7 0.14 0 0
CUI: C1839858
Disease: Periventricular cysts
Periventricular cysts 		9 0 6 0.14 0 0
CUI: C1860253
Disease: Pseudoepiphyses of the metacarpals
Pseudoepiphyses of the metacarpals 		9 0 6 0.14 0 0
CUI: C0265695
Disease: Congenital fusion of ribs
Congenital fusion of ribs 		37 0 9 0.13 0 0
CUI: C1844825
Disease: Hyperconvex fingernails
Hyperconvex fingernails 		12 0 6 0.13 0 0
CUI: C1968999
Disease: Rib segmentation abnormalities
Rib segmentation abnormalities 		12 0 6 0.13 0 0
CUI: C0265213
Disease: Distal arthrogryposis syndrome
Distal arthrogryposis syndrome 		22 0 7 0.12 0 0
CUI: C3495489
Disease: Rieger eye malformation sequence
Rieger eye malformation sequence 		13 0 6 0.12 0 0
CUI: C0265341
Disease: Rieger syndrome
Rieger syndrome 		23 0 7 0.12 0 0
CUI: C1271219
Disease: Congenital ectopic pupil
Congenital ectopic pupil 		14 0 6 0.12 0 0
CUI: C4025320
Disease: Craniofacial asymmetry
Craniofacial asymmetry 		16 0 6 0.12 0 0
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		71 0 11 0.11 0 0
CUI: C1850135
Disease: Flared metaphysis
Flared metaphysis 		32 1 7 0.11 1 0.33
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		86 11 12 0.10 1 7.7E-02
CUI: C1956097
Disease: Wolf-Hirschhorn Syndrome
Wolf-Hirschhorn Syndrome 		34 0 7 0.10 0 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 12 0.10 0 0
CUI: C0395837
Disease: Stenosis of external auditory canal
Stenosis of external auditory canal 		25 0 6 1.0E-01 0 0
CUI: C1859126
Disease: Stippled epiphyses
Stippled epiphyses 		28 0 6 9.5E-02 0 0
CUI: C0266610
Disease: Preauricular dimple
Preauricular dimple 		40 0 7 9.5E-02 0 0
CUI: C0266631
Disease: Accessory spleen
Accessory spleen 		41 0 7 9.3E-02 0 0