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: C1833340
Disease: Synostotic Posterior Plagiocephaly
Synostotic Posterior Plagiocephaly 		25 0 12 0.36 0 0
CUI: C0030044
Disease: Acrocephaly
Acrocephaly 		35 0 12 0.28 0 0
CUI: C2931150
Disease: Synostotic Anterior Plagiocephaly
Synostotic Anterior Plagiocephaly 		16 0 7 0.24 0 0
CUI: C4021164
Disease: Bicoronal synostosis
Bicoronal synostosis 		6 1 5 0.24 1 0.33
CUI: C4551902
Disease: Craniosynostosis, Type 1
Craniosynostosis, Type 1 		18 0 7 0.23 0 0
CUI: C1860050
Disease: Cloverleaf skull
Cloverleaf skull 		8 0 5 0.22 0 0
CUI: C0039093
Disease: Congenital abnormal Synostosis
Congenital abnormal Synostosis 		25 7 8 0.22 2 0.25
CUI: C1860819
Disease: Metopic synostosis
Metopic synostosis 		28 0 7 0.17 0 0
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		8 36 4 0.17 1 2.6E-02
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		3 11 3 0.15 2 0.17
CUI: C4021377
Disease: Prominent crus of helix
Prominent crus of helix 		3 0 3 0.15 0 0
CUI: C1857485
Disease: Flat forehead
Flat forehead 		11 0 4 0.15 0 0
CUI: C4021398
Disease: Metacarpal synostosis
Metacarpal synostosis 		11 0 4 0.15 0 0
CUI: C0432123
Disease: Sagittal craniosynostosis
Sagittal craniosynostosis 		35 13 7 0.15 2 0.14
CUI: C4021723
Disease: Short middle phalanx of toe
Short middle phalanx of toe 		4 0 3 0.14 0 0
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		30 33 6 0.14 1 2.9E-02
CUI: C0424690
Disease: Asymmetrical skull
Asymmetrical skull 		5 0 3 0.14 0 0
CUI: C2676443
Disease: Proximal radio-ulnar synostosis
Proximal radio-ulnar synostosis 		5 0 3 0.14 0 0
CUI: C0584837
Disease: Choanal stenosis
Choanal stenosis 		14 0 4 0.13 0 0
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		43 8 7 0.12 2 0.22
CUI: C1861869
Disease: Underdeveloped supraorbital ridges
Underdeveloped supraorbital ridges 		53 0 8 0.12 0 0
CUI: C0432106
Disease: Midline facial cleft - Tessier cleft 0
Midline facial cleft - Tessier cleft 0 		8 0 3 0.12 0 0
CUI: C1857484
Disease: Brachyturricephaly
Brachyturricephaly 		9 0 3 0.12 0 0
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		20 24 4 0.11 2 8.0E-02
CUI: C0264353
Disease: Bronchomalacia
Bronchomalacia 		10 0 3 0.11 0 0