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: C4021631
Disease: Abnormal tracheobronchial morphology
Abnormal tracheobronchial morphology 		4 0 4 0.29 0 0
CUI: C1844007
Disease: Corticospinal tract hypoplasia
Corticospinal tract hypoplasia 		5 0 4 0.27 0 0
CUI: C1863200
Disease: Lacrimal gland hypoplasia
Lacrimal gland hypoplasia 		3 0 3 0.21 0 0
CUI: C4021418
Disease: Absent proximal phalanx of thumb
Absent proximal phalanx of thumb 		3 0 3 0.21 0 0
CUI: C4021564
Disease: Hypoplasia of the lacrimal punctum
Hypoplasia of the lacrimal punctum 		3 0 3 0.21 0 0
CUI: C4021627
Disease: Bilateral triphalangeal thumbs
Bilateral triphalangeal thumbs 		3 0 3 0.21 0 0
CUI: C4024215
Disease: Aplasia of the parotid gland
Aplasia of the parotid gland 		3 0 3 0.21 0 0
CUI: C4024822
Disease: Lacrimal gland aplasia
Lacrimal gland aplasia 		3 0 3 0.21 0 0
CUI: C1394030
Disease: Coronal hypospadias
Coronal hypospadias 		4 0 3 0.20 0 0
CUI: C1858569
Disease: Absence of Stensen duct
Absence of Stensen duct 		4 0 3 0.20 0 0
CUI: C1968574
Disease: Hypoplastic lacrimal duct
Hypoplastic lacrimal duct 		4 0 3 0.20 0 0
CUI: C4024345
Disease: Radial deviation of the 3rd finger
Radial deviation of the 3rd finger 		4 0 3 0.20 0 0
CUI: C2748652
Disease: Large face
Large face 		11 0 4 0.19 0 0
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
Lacrimoauriculodentodigital syndrome 		5 0 3 0.19 0 0
CUI: C0266184
Disease: Congenital duodenal obstruction due to malrotation of intestine
Congenital duodenal obstruction due to malrotation of intestine 		5 0 3 0.19 0 0
CUI: C1840382
Disease: Abnormality of the ureter
Abnormality of the ureter 		19 0 5 0.18 0 0
CUI: C1846474
Disease: Small thenar eminence
Small thenar eminence 		6 0 3 0.18 0 0
CUI: C1867060
Disease: Lacrimal Puncta, Absence of
Lacrimal Puncta, Absence of 		6 0 3 0.18 0 0
CUI: C0010930
Disease: Dacryocystitis
Dacryocystitis 		8 0 3 0.16 0 0
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		8 0 3 0.16 0 0
CUI: C0432055
Disease: Simple syndactyly of fingers - first web
Simple syndactyly of fingers - first web 		9 0 3 0.15 0 0
CUI: C0751037
Disease: Cockayne Syndrome, Type III
Cockayne Syndrome, Type III 		2 0 2 0.14 0 0
CUI: C1450010
Disease: Plagiocephaly, Nonsynostotic
Plagiocephaly, Nonsynostotic 		2 0 2 0.14 0 0
CUI: C1856136
Disease: Conical incisor
Conical incisor 		10 0 3 0.14 0 0
CUI: C1857638
Disease: Patchy demyelination of subcortical white matter
Patchy demyelination of subcortical white matter 		2 0 2 0.14 0 0