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: C0265534
Disease: Scaphycephaly
Scaphycephaly 		43 8 21 0.37 7 0.50
CUI: C1833340
Disease: Synostotic Posterior Plagiocephaly
Synostotic Posterior Plagiocephaly 		25 0 12 0.25 0 0
CUI: C1860819
Disease: Metopic synostosis
Metopic synostosis 		28 5 12 0.24 2 0.12
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		9 0 8 0.22 0 0
CUI: C1848200
Disease: SUBCORTICAL BAND HETEROTOPIA, X-LINKED
SUBCORTICAL BAND HETEROTOPIA, X-LINKED 		10 0 8 0.22 0 0
CUI: C4021028
Disease: Pseudo-fractures
Pseudo-fractures 		10 0 8 0.22 0 0
CUI: C2931150
Disease: Synostotic Anterior Plagiocephaly
Synostotic Anterior Plagiocephaly 		16 0 9 0.21 0 0
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		12 0 8 0.21 0 0
CUI: C4551902
Disease: Craniosynostosis, Type 1
Craniosynostosis, Type 1 		18 0 9 0.20 0 0
CUI: C0205823
Disease: Pleomorphic Lipoma
Pleomorphic Lipoma 		13 0 8 0.20 0 0
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		52 7 14 0.19 1 5.3E-02
CUI: C1842402
Disease: TROPICAL CALCIFIC PANCREATITIS
TROPICAL CALCIFIC PANCREATITIS 		24 0 9 0.18 0 0
CUI: C0030044
Disease: Acrocephaly
Acrocephaly 		35 0 10 0.17 0 0
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia 		27 0 8 0.15 0 0
CUI: C1856266
Disease: Coronal craniosynostosis
Coronal craniosynostosis 		20 3 7 0.15 2 0.14
CUI: C1848201
Disease: Subcortical Band Heterotopia
Subcortical Band Heterotopia 		30 0 8 0.14 0 0
CUI: C4021164
Disease: Bicoronal synostosis
Bicoronal synostosis 		6 1 5 0.14 1 7.7E-02
CUI: C0520739
Disease: Hereditary pyropoikilocytosis
Hereditary pyropoikilocytosis 		47 0 9 0.12 0 0
CUI: C0151798
Disease: Hepatic necrosis
Hepatic necrosis 		44 0 8 0.11 0 0
CUI: C0039093
Disease: Congenital abnormal Synostosis
Congenital abnormal Synostosis 		25 7 6 0.11 3 0.18
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		46 0 8 0.11 0 0
CUI: C0276623
Disease: Chronic viral hepatitis
Chronic viral hepatitis 		59 0 9 0.11 0 0
CUI: C0151846
Disease: Periosteal Disorder
Periosteal Disorder 		80 0 11 0.11 0 0
CUI: C1860050
Disease: Cloverleaf skull
Cloverleaf skull 		8 0 4 0.10 0 0
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		20 24 5 1.0E-01 4 0.12