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: C1851853
Disease: Midline notch of upper alveolar ridge
Midline notch of upper alveolar ridge 		8 0 8 0.89 0 0
CUI: C1848597
Disease: Central Y-shaped metacarpal
Central Y-shaped metacarpal 		9 0 8 0.80 0 0
CUI: C1856655
Disease: Hypoplasia of olfactory tract
Hypoplasia of olfactory tract 		9 0 8 0.80 0 0
CUI: C0241438
Disease: Tongue nodules
Tongue nodules 		11 0 8 0.67 0 0
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		11 0 7 0.54 0 0
CUI: C0431564
Disease: Lobulated tongue
Lobulated tongue 		14 0 8 0.53 0 0
CUI: C0431565
Disease: Hamartoma of tongue
Hamartoma of tongue 		18 0 8 0.42 0 0
CUI: C4025881
Disease: Abnormal oral frenulum morphology
Abnormal oral frenulum morphology 		19 0 8 0.40 0 0
CUI: C0342418
Disease: Hypothalamic hamartomas
Hypothalamic hamartomas 		29 0 8 0.27 0 0
CUI: C3806218
Disease: Episodic tachypnea
Episodic tachypnea 		31 0 8 0.25 0 0
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		35 0 8 0.22 0 0
CUI: C1709353
Disease: Osteofibrous Dysplasia
Osteofibrous Dysplasia 		25 0 5 0.17 0 0
CUI: C0029294
Disease: Orofaciodigital Syndromes
Orofaciodigital Syndromes 		19 0 4 0.17 0 0
CUI: C4021814
Disease: Accessory oral frenulum
Accessory oral frenulum 		12 0 3 0.17 0 0
CUI: C0431663
Disease: Bilateral Cryptorchidism
Bilateral Cryptorchidism 		48 0 8 0.16 0 0
CUI: C0345354
Disease: Radial polydactyly
Radial polydactyly 		51 0 8 0.15 0 0
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		60 0 8 0.13 0 0
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		17 0 3 0.13 0 0
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		61 0 8 0.13 0 0
CUI: C2112942
Disease: Preaxial foot polydactyly
Preaxial foot polydactyly 		10 0 2 0.12 0 0
CUI: C0042818
Disease: Visual discomfort
Visual discomfort 		1 0 1 0.11 0 0
CUI: C0266429
Disease: Monorchism
Monorchism 		1 0 1 0.11 0 0
CUI: C0406727
Disease: Orofaciodigital syndrome 4
Orofaciodigital syndrome 4 		1 0 1 0.11 0 0
CUI: C1842577
Disease: JOUBERT SYNDROME 2
JOUBERT SYNDROME 2 		1 0 1 0.11 0 0
CUI: C1846722
Disease: Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 		1 0 1 0.11 0 0