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: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		95 8 90 0.63 3 0.30
CUI: C0262374
Disease: Stricture of anus
Stricture of anus 		28 1 8 5.1E-02 1 0.20
CUI: C0266298
Disease: Accessory kidney
Accessory kidney 		20 1 1 6.4E-03 1 0.20
CUI: C1834042
Disease: Hypoplasia of facial musculature
Hypoplasia of facial musculature 		1 1 1 7.3E-03 1 0.20
CUI: C1844825
Disease: Hyperconvex fingernails
Hyperconvex fingernails 		12 1 2 1.4E-02 1 0.20
CUI: C4024168
Disease: Thickened ears
Thickened ears 		7 1 3 2.1E-02 1 0.20
CUI: C4025678
Disease: Abnormal trachea morphology
Abnormal trachea morphology 		2 1 1 7.2E-03 1 0.20
CUI: C1857949
Disease: Prominent metopic ridge
Prominent metopic ridge 		39 2 10 6.0E-02 1 0.17
CUI: C1866207
Disease: Dysplastic aortic valve
Dysplastic aortic valve 		3 2 1 7.2E-03 1 0.17
CUI: C4225378
Disease: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY 		1 2 1 7.3E-03 1 0.17
CUI: C1854408
Disease: Glabellar hemangioma
Glabellar hemangioma 		6 4 1 7.0E-03 1 0.12
CUI: C1859455
Disease: Small anterior fontanelle
Small anterior fontanelle 		11 4 1 6.8E-03 1 0.12
CUI: C0016522
Disease: Foramen Ovale, Patent
Foramen Ovale, Patent 		73 14 6 2.9E-02 2 0.12
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus 		34 5 6 3.6E-02 1 0.11
CUI: C1857479
Disease: Short columella
Short columella 		20 5 4 2.6E-02 1 0.11
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		129 21 26 0.11 2 8.3E-02
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis 		92 8 7 3.2E-02 1 8.3E-02
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		139 9 38 0.16 1 7.7E-02
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		105 10 8 3.4E-02 1 7.1E-02
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 10 1 4.9E-03 1 7.1E-02
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		77 12 1 4.7E-03 1 6.2E-02
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		137 13 27 0.11 1 5.9E-02
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele 		85 13 14 6.7E-02 1 5.9E-02
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT 		55 14 6 3.2E-02 1 5.6E-02
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		181 34 19 6.4E-02 2 5.4E-02