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: C1848597
Disease: Central Y-shaped metacarpal
Central Y-shaped metacarpal 		9 0 8 0.67 0 0
CUI: C1851853
Disease: Midline notch of upper alveolar ridge
Midline notch of upper alveolar ridge 		8 0 7 0.58 0 0
CUI: C1848595
Disease: Mesoaxial polydactyly
Mesoaxial polydactyly 		9 0 7 0.54 0 0
CUI: C1856655
Disease: Hypoplasia of olfactory tract
Hypoplasia of olfactory tract 		9 0 7 0.54 0 0
CUI: C0431564
Disease: Lobulated tongue
Lobulated tongue 		14 0 8 0.47 0 0
CUI: C0241438
Disease: Tongue nodules
Tongue nodules 		11 0 7 0.47 0 0
CUI: C0431565
Disease: Hamartoma of tongue
Hamartoma of tongue 		18 0 9 0.45 0 0
CUI: C4025881
Disease: Abnormal oral frenulum morphology
Abnormal oral frenulum morphology 		19 0 7 0.30 0 0
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		35 0 10 0.28 0 0
CUI: C3806218
Disease: Episodic tachypnea
Episodic tachypnea 		31 0 9 0.27 0 0
CUI: C0342418
Disease: Hypothalamic hamartomas
Hypothalamic hamartomas 		29 0 7 0.21 0 0
CUI: C0029294
Disease: Orofaciodigital Syndromes
Orofaciodigital Syndromes 		19 0 5 0.20 0 0
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		60 0 10 0.16 0 0
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		61 0 10 0.16 0 0
CUI: C1709353
Disease: Osteofibrous Dysplasia
Osteofibrous Dysplasia 		25 0 5 0.16 0 0
CUI: C1855675
Disease: Arima syndrome
Arima syndrome 		11 0 3 0.16 0 0
CUI: C4021756
Disease: Thickened superior cerebellar peduncle
Thickened superior cerebellar peduncle 		4 0 2 0.15 0 0
CUI: C0345354
Disease: Radial polydactyly
Radial polydactyly 		51 0 8 0.15 0 0
CUI: C3806216
Disease: Neonatal breathing dysregulation
Neonatal breathing dysregulation 		5 0 2 0.14 0 0
CUI: C0431663
Disease: Bilateral Cryptorchidism
Bilateral Cryptorchidism 		48 0 7 0.13 0 0
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly 		75 0 10 0.13 0 0
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		26 0 4 0.12 0 0
CUI: C1395852
Disease: Polydactyly preaxial type 1
Polydactyly preaxial type 1 		49 0 6 0.11 0 0
CUI: C4023916
Disease: Aplasia/Hypoplasia of the tongue
Aplasia/Hypoplasia of the tongue 		19 0 3 0.11 0 0
CUI: C4551631
Disease: Cystic liver disease
Cystic liver disease 		19 0 3 0.11 0 0