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: C0026010
Disease: Microphthalmos
Microphthalmos 		337 40 33 9.5E-02 1 2.4E-02
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 23 9.5E-02 0 0
CUI: C3150086
Disease: Aplasia/Hypoplasia of the nipples
Aplasia/Hypoplasia of the nipples 		16 0 5 9.4E-02 0 0
CUI: C0271270
Disease: Oculovestibuloauditory syndrome
Oculovestibuloauditory syndrome 		87 0 11 9.3E-02 0 0
CUI: C0267818
Disease: Bile duct proliferation
Bile duct proliferation 		30 0 6 9.1E-02 0 0
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		92 0 11 8.9E-02 0 0
CUI: C0266249
Disease: Gallbladder anomaly congenital
Gallbladder anomaly congenital 		8 0 4 8.7E-02 0 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		149 0 15 8.5E-02 0 0
CUI: C2931500
Disease: Microphthalmia and mental deficiency
Microphthalmia and mental deficiency 		9 0 4 8.5E-02 0 0
CUI: C4255043
Disease: Microphthalmos co-occurrent with congenital ocular coloboma
Microphthalmos co-occurrent with congenital ocular coloboma 		9 0 4 8.5E-02 0 0
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 0 14 8.3E-02 0 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 10 8.3E-02 0 0
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		129 0 13 8.2E-02 0 0
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		116 0 12 8.2E-02 0 0
CUI: C0221182
Disease: Chordee
Chordee 		11 0 4 8.2E-02 0 0
CUI: C1848977
Disease: Short upper lip
Short upper lip 		12 0 4 8.0E-02 0 0
CUI: C0152427
Disease: Polydactyly
Polydactyly 		188 0 17 8.0E-02 0 0
CUI: C0040962
Disease: Tricuspid Valve Prolapse
Tricuspid Valve Prolapse 		13 0 4 7.8E-02 0 0
CUI: C0685776
Disease: Congenital absence of mandible
Congenital absence of mandible 		14 0 4 7.7E-02 0 0
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		30 0 5 7.5E-02 0 0
CUI: C1855676
Disease: Aplasia/Hypoplasia of the cerebellar vermis
Aplasia/Hypoplasia of the cerebellar vermis 		30 0 5 7.5E-02 0 0
CUI: C1840319
Disease: Redundant neck skin
Redundant neck skin 		16 0 4 7.4E-02 0 0
CUI: C0311245
Disease: Congenital cystic kidney disease
Congenital cystic kidney disease 		31 0 5 7.4E-02 0 0
CUI: C0431384
Disease: Colpocephaly
Colpocephaly 		17 0 4 7.3E-02 0 0
CUI: C0431565
Disease: Hamartoma of tongue
Hamartoma of tongue 		18 0 4 7.1E-02 0 0