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: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		8 36 7 0.33 16 0.36
CUI: C4021164
Disease: Bicoronal synostosis
Bicoronal synostosis 		6 1 4 0.18 1 4.2E-02
CUI: C1860050
Disease: Cloverleaf skull
Cloverleaf skull 		8 0 4 0.17 0 0
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		15 52 5 0.17 19 0.33
CUI: C2931150
Disease: Synostotic Anterior Plagiocephaly
Synostotic Anterior Plagiocephaly 		16 0 5 0.16 0 0
CUI: C1833340
Disease: Synostotic Posterior Plagiocephaly
Synostotic Posterior Plagiocephaly 		25 0 6 0.15 0 0
CUI: C4551902
Disease: Craniosynostosis, Type 1
Craniosynostosis, Type 1 		18 0 5 0.15 0 0
CUI: C0687154
Disease: Acrocephalopolysyndactyly
Acrocephalopolysyndactyly 		3 0 3 0.15 0 0
CUI: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia 		3 1 3 0.15 1 4.2E-02
CUI: C1863200
Disease: Lacrimal gland hypoplasia
Lacrimal gland hypoplasia 		3 0 3 0.15 0 0
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		3 11 3 0.15 5 0.17
CUI: C4021377
Disease: Prominent crus of helix
Prominent crus of helix 		3 0 3 0.15 0 0
CUI: C4021418
Disease: Absent proximal phalanx of thumb
Absent proximal phalanx of thumb 		3 0 3 0.15 0 0
CUI: C4021564
Disease: Hypoplasia of the lacrimal punctum
Hypoplasia of the lacrimal punctum 		3 0 3 0.15 0 0
CUI: C4021627
Disease: Bilateral triphalangeal thumbs
Bilateral triphalangeal thumbs 		3 0 3 0.15 0 0
CUI: C4024215
Disease: Aplasia of the parotid gland
Aplasia of the parotid gland 		3 0 3 0.15 0 0
CUI: C4024822
Disease: Lacrimal gland aplasia
Lacrimal gland aplasia 		3 0 3 0.15 0 0
CUI: C1394030
Disease: Coronal hypospadias
Coronal hypospadias 		4 0 3 0.14 0 0
CUI: C1858569
Disease: Absence of Stensen duct
Absence of Stensen duct 		4 0 3 0.14 0 0
CUI: C1968574
Disease: Hypoplastic lacrimal duct
Hypoplastic lacrimal duct 		4 0 3 0.14 0 0
CUI: C4021723
Disease: Short middle phalanx of toe
Short middle phalanx of toe 		4 0 3 0.14 0 0
CUI: C4024345
Disease: Radial deviation of the 3rd finger
Radial deviation of the 3rd finger 		4 0 3 0.14 0 0
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
Lacrimoauriculodentodigital syndrome 		5 33 3 0.14 9 0.19
CUI: C0266184
Disease: Congenital duodenal obstruction due to malrotation of intestine
Congenital duodenal obstruction due to malrotation of intestine 		5 0 3 0.14 0 0
CUI: C1848587
Disease: Isolated hypoplasia of the right ventricle
Isolated hypoplasia of the right ventricle 		5 0 3 0.14 0 0