Source: CLINVAR ×
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: C0024507
Disease: Majewski Syndrome
Majewski Syndrome 		11 31 2 8.7E-02 1 2.3E-02
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		11 11 2 8.7E-02 2 8.7E-02
CUI: C0426848
Disease: Sacral dimple
Sacral dimple 		11 11 2 8.7E-02 2 8.7E-02
CUI: C1861324
Disease: Short philtrum
Short philtrum 		24 25 3 8.6E-02 2 5.4E-02
CUI: C0018916
Disease: Hemangioma
Hemangioma 		12 15 2 8.3E-02 2 7.4E-02
CUI: C0426817
Disease: Short ribs
Short ribs 		12 27 2 8.3E-02 2 5.1E-02
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		26 35 3 8.1E-02 3 6.5E-02
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		13 13 2 8.0E-02 1 3.8E-02
CUI: C0920299
Disease: Overriding toe
Overriding toe 		13 13 2 8.0E-02 3 0.12
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		13 17 2 8.0E-02 3 0.11
CUI: C0013132
Disease: Drooling
Drooling 		14 0 2 7.7E-02 0 0
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		14 22 2 7.7E-02 3 9.1E-02
CUI: C0239676
Disease: High forehead
High forehead 		14 17 2 7.7E-02 1 3.3E-02
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		15 21 2 7.4E-02 1 2.9E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		30 35 3 7.3E-02 3 6.5E-02
CUI: C0020490
Disease: Hyperopia
Hyperopia 		16 17 2 7.1E-02 1 3.3E-02
CUI: C0020500
Disease: Hyperoxaluria
Hyperoxaluria 		1 1 1 7.1E-02 1 7.1E-02
CUI: C0025467
Disease: Mesenteric Cyst
Mesenteric Cyst 		1 2 1 7.1E-02 2 0.14
CUI: C0029423
Disease: Cartilaginous exostosis
Cartilaginous exostosis 		1 2 1 7.1E-02 2 0.14
CUI: C0041960
Disease: Ureterocele
Ureterocele 		1 1 1 7.1E-02 1 7.1E-02
CUI: C0154850
Disease: Cystoid macular retinal degeneration
Cystoid macular retinal degeneration 		1 1 1 7.1E-02 1 7.1E-02
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1 84 1 7.1E-02 1 1.0E-02
CUI: C0206619
Disease: Lymphatic Vessel Tumors
Lymphatic Vessel Tumors 		1 2 1 7.1E-02 2 0.14
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		16 17 2 7.1E-02 1 3.3E-02
CUI: C0271051
Disease: Macular retinal edema
Macular retinal edema 		1 1 1 7.1E-02 1 7.1E-02