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: C0241438
Disease: Tongue nodules
Tongue nodules 		11 0 9 0.43 0 0
CUI: C1851853
Disease: Midline notch of upper alveolar ridge
Midline notch of upper alveolar ridge 		8 0 8 0.42 0 0
CUI: C1848595
Disease: Mesoaxial polydactyly
Mesoaxial polydactyly 		9 0 8 0.40 0 0
CUI: C1848597
Disease: Central Y-shaped metacarpal
Central Y-shaped metacarpal 		9 0 8 0.40 0 0
CUI: C1856655
Disease: Hypoplasia of olfactory tract
Hypoplasia of olfactory tract 		9 0 8 0.40 0 0
CUI: C0431565
Disease: Hamartoma of tongue
Hamartoma of tongue 		18 0 9 0.32 0 0
CUI: C0431564
Disease: Lobulated tongue
Lobulated tongue 		14 0 8 0.32 0 0
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		11 0 7 0.30 0 0
CUI: C1857002
Disease: Capitate-hamate fusion
Capitate-hamate fusion 		8 0 5 0.23 0 0
CUI: C0342418
Disease: Hypothalamic hamartomas
Hypothalamic hamartomas 		29 0 8 0.20 0 0
CUI: C3806218
Disease: Episodic tachypnea
Episodic tachypnea 		31 0 8 0.19 0 0
CUI: C4023170
Disease: Abnormal oral mucosa morphology
Abnormal oral mucosa morphology 		6 0 4 0.19 0 0
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		61 0 12 0.18 0 0
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		35 0 8 0.17 0 0
CUI: C1856136
Disease: Conical incisor
Conical incisor 		10 0 4 0.16 0 0
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		11 0 4 0.15 0 0
CUI: C1850171
Disease: Neonatal short-limb short stature
Neonatal short-limb short stature 		12 0 4 0.15 0 0
CUI: C4021814
Disease: Accessory oral frenulum
Accessory oral frenulum 		12 0 4 0.15 0 0
CUI: C0345354
Disease: Radial polydactyly
Radial polydactyly 		51 0 9 0.15 0 0
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly 		75 0 12 0.15 0 0
CUI: C3806510
Disease: Horizontal ribs
Horizontal ribs 		13 0 4 0.14 0 0
CUI: C0431663
Disease: Bilateral Cryptorchidism
Bilateral Cryptorchidism 		48 0 8 0.14 0 0
CUI: C1836193
Disease: Synostosis of carpal bones
Synostosis of carpal bones 		23 0 5 0.14 0 0
CUI: C1850256
Disease: Median cleft lip
Median cleft lip 		15 0 4 0.13 0 0
CUI: C4021634
Disease: Abnormality of bone marrow cell morphology
Abnormality of bone marrow cell morphology 		15 0 4 0.13 0 0