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: C0266184
Disease: Congenital duodenal obstruction due to malrotation of intestine
Congenital duodenal obstruction due to malrotation of intestine 		5 1 5 1.00 1 3.0E-02
CUI: C1858569
Disease: Absence of Stensen duct
Absence of Stensen duct 		4 0 4 0.80 0 0
CUI: C1863200
Disease: Lacrimal gland hypoplasia
Lacrimal gland hypoplasia 		3 0 3 0.60 0 0
CUI: C4021418
Disease: Absent proximal phalanx of thumb
Absent proximal phalanx of thumb 		3 0 3 0.60 0 0
CUI: C4021564
Disease: Hypoplasia of the lacrimal punctum
Hypoplasia of the lacrimal punctum 		3 0 3 0.60 0 0
CUI: C4021627
Disease: Bilateral triphalangeal thumbs
Bilateral triphalangeal thumbs 		3 0 3 0.60 0 0
CUI: C4024215
Disease: Aplasia of the parotid gland
Aplasia of the parotid gland 		3 0 3 0.60 0 0
CUI: C4024822
Disease: Lacrimal gland aplasia
Lacrimal gland aplasia 		3 0 3 0.60 0 0
CUI: C1867060
Disease: Lacrimal Puncta, Absence of
Lacrimal Puncta, Absence of 		6 0 4 0.57 0 0
CUI: C1394030
Disease: Coronal hypospadias
Coronal hypospadias 		4 0 3 0.50 0 0
CUI: C1968574
Disease: Hypoplastic lacrimal duct
Hypoplastic lacrimal duct 		4 0 3 0.50 0 0
CUI: C4024345
Disease: Radial deviation of the 3rd finger
Radial deviation of the 3rd finger 		4 0 3 0.50 0 0
CUI: C0010930
Disease: Dacryocystitis
Dacryocystitis 		8 0 4 0.44 0 0
CUI: C1450010
Disease: Plagiocephaly, Nonsynostotic
Plagiocephaly, Nonsynostotic 		2 0 2 0.40 0 0
CUI: C1846474
Disease: Small thenar eminence
Small thenar eminence 		6 0 3 0.38 0 0
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		3 11 2 0.33 8 0.22
CUI: C4021377
Disease: Prominent crus of helix
Prominent crus of helix 		3 0 2 0.33 0 0
CUI: C1281931
Disease: Obstruction of nasolacrimal duct
Obstruction of nasolacrimal duct 		12 0 4 0.31 0 0
CUI: C0265857
Disease: Uhl anomaly
Uhl anomaly 		4 0 2 0.29 0 0
CUI: C4021723
Disease: Short middle phalanx of toe
Short middle phalanx of toe 		4 0 2 0.29 0 0
CUI: C4082954
Disease: Hypoplasia of right ventricle
Hypoplasia of right ventricle 		4 0 2 0.29 0 0
CUI: C0432055
Disease: Simple syndactyly of fingers - first web
Simple syndactyly of fingers - first web 		9 0 3 0.27 0 0
CUI: C0846967
Disease: Acanthoma
Acanthoma 		5 0 2 0.25 0 0
CUI: C1848587
Disease: Isolated hypoplasia of the right ventricle
Isolated hypoplasia of the right ventricle 		5 0 2 0.25 0 0
CUI: C1856136
Disease: Conical incisor
Conical incisor 		10 0 3 0.25 0 0