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: C0345354
Disease: Radial polydactyly
Radial polydactyly 		51 0 21 0.23 0 0
CUI: C0152427
Disease: Polydactyly
Polydactyly 		188 43 46 0.23 1 2.0E-02
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		92 0 28 0.22 0 0
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		35 0 14 0.17 0 0
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		61 0 17 0.16 0 0
CUI: C2112129
Disease: Postaxial foot polydactyly
Postaxial foot polydactyly 		45 0 14 0.15 0 0
CUI: C1395852
Disease: Polydactyly preaxial type 1
Polydactyly preaxial type 1 		49 0 14 0.15 0 0
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly 		75 0 17 0.14 0 0
CUI: C0431564
Disease: Lobulated tongue
Lobulated tongue 		14 0 9 0.14 0 0
CUI: C3806218
Disease: Episodic tachypnea
Episodic tachypnea 		31 0 10 0.12 0 0
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		108 0 18 0.12 0 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		241 0 31 0.11 0 0
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		95 187 16 0.11 1 5.2E-03
CUI: C0431565
Disease: Hamartoma of tongue
Hamartoma of tongue 		18 0 8 0.11 0 0
CUI: C0039075
Disease: Syndactyly
Syndactyly 		127 26 19 0.11 1 3.1E-02
CUI: C0029294
Disease: Orofaciodigital Syndromes
Orofaciodigital Syndromes 		19 0 8 0.11 0 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 0 16 0.11 0 0
CUI: C0426817
Disease: Short ribs
Short ribs 		60 0 12 0.11 0 0
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		60 0 12 0.11 0 0
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome 		21 0 8 0.11 0 0
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		137 0 19 0.11 0 0
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		26 105 8 0.10 1 9.0E-03
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		29 0 8 9.8E-02 0 0
CUI: C4025881
Disease: Abnormal oral frenulum morphology
Abnormal oral frenulum morphology 		19 0 7 9.6E-02 0 0
CUI: C3887487
Disease: Postaxial polydactyly type A
Postaxial polydactyly type A 		20 0 7 9.5E-02 0 0