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: C1861217
Disease: Small foramen magnum
Small foramen magnum 		3 1 3 0.25 1 0.25
CUI: C0549397
Disease: Deviated nasal septum
Deviated nasal septum 		5 0 3 0.21 0 0
CUI: C1281931
Disease: Obstruction of nasolacrimal duct
Obstruction of nasolacrimal duct 		12 0 4 0.20 0 0
CUI: C1450010
Disease: Plagiocephaly, Nonsynostotic
Plagiocephaly, Nonsynostotic 		2 0 2 0.17 0 0
CUI: C1846464
Disease: Globe retraction and deviation on adduction
Globe retraction and deviation on adduction 		2 3 2 0.17 2 0.40
CUI: C1867132
Disease: Plantar crease between first and second toes
Plantar crease between first and second toes 		2 0 2 0.17 0 0
CUI: C4025806
Disease: High axial triradius
High axial triradius 		2 0 2 0.17 0 0
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		2 0 2 0.17 0 0
CUI: C1405984
Disease: Absent radius
Absent radius 		24 0 5 0.16 0 0
CUI: C1290508
Disease: Abnormal number of teeth
Abnormal number of teeth 		3 0 2 0.15 0 0
CUI: C1863200
Disease: Lacrimal gland hypoplasia
Lacrimal gland hypoplasia 		3 0 2 0.15 0 0
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		3 0 2 0.15 0 0
CUI: C4021377
Disease: Prominent crus of helix
Prominent crus of helix 		3 0 2 0.15 0 0
CUI: C4021418
Disease: Absent proximal phalanx of thumb
Absent proximal phalanx of thumb 		3 0 2 0.15 0 0
CUI: C4021564
Disease: Hypoplasia of the lacrimal punctum
Hypoplasia of the lacrimal punctum 		3 0 2 0.15 0 0
CUI: C4021627
Disease: Bilateral triphalangeal thumbs
Bilateral triphalangeal thumbs 		3 0 2 0.15 0 0
CUI: C4024215
Disease: Aplasia of the parotid gland
Aplasia of the parotid gland 		3 0 2 0.15 0 0
CUI: C4024822
Disease: Lacrimal gland aplasia
Lacrimal gland aplasia 		3 0 2 0.15 0 0
CUI: C4025111
Disease: Radial deviation of thumb terminal phalanx
Radial deviation of thumb terminal phalanx 		3 0 2 0.15 0 0
CUI: C1394030
Disease: Coronal hypospadias
Coronal hypospadias 		4 0 2 0.14 0 0
CUI: C1858569
Disease: Absence of Stensen duct
Absence of Stensen duct 		4 0 2 0.14 0 0
CUI: C1859460
Disease: Bowed humerus
Bowed humerus 		4 0 2 0.14 0 0
CUI: C1968574
Disease: Hypoplastic lacrimal duct
Hypoplastic lacrimal duct 		4 0 2 0.14 0 0
CUI: C4021723
Disease: Short middle phalanx of toe
Short middle phalanx of toe 		4 0 2 0.14 0 0
CUI: C4024345
Disease: Radial deviation of the 3rd finger
Radial deviation of the 3rd finger 		4 0 2 0.14 0 0