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: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		3 0 2 0.18 0 0
CUI: C4021377
Disease: Prominent crus of helix
Prominent crus of helix 		3 0 2 0.18 0 0
CUI: C1836193
Disease: Synostosis of carpal bones
Synostosis of carpal bones 		23 0 5 0.18 0 0
CUI: C4021395
Disease: Abnormality of the antihelix
Abnormality of the antihelix 		17 0 4 0.17 0 0
CUI: C0265857
Disease: Uhl anomaly
Uhl anomaly 		4 0 2 0.17 0 0
CUI: C0457013
Disease: Weyers acrofacial dysostosis
Weyers acrofacial dysostosis 		4 0 2 0.17 0 0
CUI: C4021723
Disease: Short middle phalanx of toe
Short middle phalanx of toe 		4 0 2 0.17 0 0
CUI: C4082954
Disease: Hypoplasia of right ventricle
Hypoplasia of right ventricle 		4 0 2 0.17 0 0
CUI: C4025881
Disease: Abnormal oral frenulum morphology
Abnormal oral frenulum morphology 		19 0 4 0.16 0 0
CUI: C1281931
Disease: Obstruction of nasolacrimal duct
Obstruction of nasolacrimal duct 		12 0 3 0.16 0 0
CUI: C0846967
Disease: Acanthoma
Acanthoma 		5 0 2 0.15 0 0
CUI: C1848587
Disease: Isolated hypoplasia of the right ventricle
Isolated hypoplasia of the right ventricle 		5 0 2 0.15 0 0
CUI: C2676443
Disease: Proximal radio-ulnar synostosis
Proximal radio-ulnar synostosis 		5 0 2 0.15 0 0
CUI: C3808270
Disease: Acetabular spurs
Acetabular spurs 		5 0 2 0.15 0 0
CUI: C3806510
Disease: Horizontal ribs
Horizontal ribs 		13 0 3 0.15 0 0
CUI: C4024996
Disease: Aplasia/Hypoplasia of the lungs
Aplasia/Hypoplasia of the lungs 		29 0 5 0.15 0 0
CUI: C1845272
Disease: Prominent antihelix
Prominent antihelix 		6 0 2 0.14 0 0
CUI: C1849538
Disease: Delayed eruption of primary teeth
Delayed eruption of primary teeth 		14 0 3 0.14 0 0
CUI: C4021164
Disease: Bicoronal synostosis
Bicoronal synostosis 		6 0 2 0.14 0 0
CUI: C0155119
Disease: Recurrent erosion of cornea
Recurrent erosion of cornea 		15 0 3 0.14 0 0
CUI: C0013393
Disease: Dysostoses
Dysostoses 		16 0 3 0.13 0 0
CUI: C0344505
Disease: Alacrima
Alacrima 		16 0 3 0.13 0 0
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		8 0 2 0.12 0 0
CUI: C1860050
Disease: Cloverleaf skull
Cloverleaf skull 		8 0 2 0.12 0 0
CUI: C4020847
Disease: Abnormality of pelvic girdle bone morphology
Abnormality of pelvic girdle bone morphology 		55 0 7 0.12 0 0