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: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		92 0 74 0.36 0 0
CUI: C0220697
Disease: POLYDACTYLY, POSTAXIAL
POLYDACTYLY, POSTAXIAL 		61 7 46 0.23 1 2.0E-02
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		241 0 72 0.20 0 0
CUI: C2112129
Disease: Postaxial foot polydactyly
Postaxial foot polydactyly 		45 0 37 0.19 0 0
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		171 0 57 0.19 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 19 62 0.18 1 1.6E-02
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly 		75 0 39 0.17 0 0
CUI: C0039075
Disease: Syndactyly
Syndactyly 		127 26 46 0.17 2 3.0E-02
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		61 2 36 0.17 1 2.3E-02
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		121 0 44 0.17 0 0
CUI: C1395852
Disease: Polydactyly preaxial type 1
Polydactyly preaxial type 1 		49 0 33 0.16 0 0
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		129 11 44 0.16 2 3.8E-02
CUI: C0345354
Disease: Radial polydactyly
Radial polydactyly 		51 0 33 0.16 0 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 0 50 0.16 0 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		153 0 45 0.15 0 0
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		148 0 44 0.15 0 0
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 54 0.15 0 0
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		95 187 35 0.14 4 1.8E-02
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		108 0 36 0.14 0 0
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		93 0 34 0.14 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 0 62 0.14 0 0
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		35 0 26 0.13 0 0
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		60 0 28 0.13 0 0
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		137 0 35 0.12 0 0
CUI: C3540764
Disease: Coloboma of the Retina
Coloboma of the Retina 		58 0 26 0.12 0 0