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: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		17 0 13 0.57 0 0
CUI: C0431564
Disease: Lobulated tongue
Lobulated tongue 		14 0 7 0.27 0 0
CUI: C0431565
Disease: Hamartoma of tongue
Hamartoma of tongue 		18 0 7 0.23 0 0
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		11 0 5 0.20 0 0
CUI: C4021814
Disease: Accessory oral frenulum
Accessory oral frenulum 		12 0 5 0.19 0 0
CUI: C1851853
Disease: Midline notch of upper alveolar ridge
Midline notch of upper alveolar ridge 		8 0 4 0.17 0 0
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		35 0 8 0.17 0 0
CUI: C1848595
Disease: Mesoaxial polydactyly
Mesoaxial polydactyly 		9 0 4 0.17 0 0
CUI: C1848597
Disease: Central Y-shaped metacarpal
Central Y-shaped metacarpal 		9 0 4 0.17 0 0
CUI: C1856655
Disease: Hypoplasia of olfactory tract
Hypoplasia of olfactory tract 		9 0 4 0.17 0 0
CUI: C1709353
Disease: Osteofibrous Dysplasia
Osteofibrous Dysplasia 		25 0 6 0.16 0 0
CUI: C0241438
Disease: Tongue nodules
Tongue nodules 		11 0 4 0.15 0 0
CUI: C0026363
Disease: Mohr Syndrome
Mohr Syndrome 		6 0 3 0.14 0 0
CUI: C4025881
Disease: Abnormal oral frenulum morphology
Abnormal oral frenulum morphology 		19 0 4 0.12 0 0
CUI: C0342418
Disease: Hypothalamic hamartomas
Hypothalamic hamartomas 		29 0 5 0.12 0 0
CUI: C0220697
Disease: POLYDACTYLY, POSTAXIAL
POLYDACTYLY, POSTAXIAL 		61 0 8 0.11 0 0
CUI: C0345354
Disease: Radial polydactyly
Radial polydactyly 		51 0 7 0.11 0 0
CUI: C3806218
Disease: Episodic tachypnea
Episodic tachypnea 		31 0 5 0.11 0 0
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		33 0 5 0.11 0 0
CUI: C0342748
Disease: Glycogen synthase deficiency
Glycogen synthase deficiency 		2 0 2 0.11 0 0
CUI: C0432066
Disease: Congenital malformation syndromes affecting facial appearance
Congenital malformation syndromes affecting facial appearance 		2 0 2 0.11 0 0
CUI: C0687154
Disease: Acrocephalopolysyndactyly
Acrocephalopolysyndactyly 		3 0 2 1.0E-01 0 0
CUI: C1850256
Disease: Median cleft lip
Median cleft lip 		15 0 3 9.7E-02 0 0
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		61 0 7 9.6E-02 0 0
CUI: C4021606
Disease: Mesoaxial hand polydactyly
Mesoaxial hand polydactyly 		6 0 2 8.7E-02 0 0