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: C2112129
Disease: Postaxial foot polydactyly
Postaxial foot polydactyly 		45 4 41 0.43 2 0.15
CUI: C0152427
Disease: Polydactyly
Polydactyly 		188 0 74 0.36 0 0
CUI: C1395852
Disease: Polydactyly preaxial type 1
Polydactyly preaxial type 1 		49 0 29 0.26 0 0
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		121 0 42 0.25 0 0
CUI: C1844562
Disease: Medial flaring of the eyebrow
Medial flaring of the eyebrow 		28 0 22 0.22 0 0
CUI: C0220697
Disease: POLYDACTYLY, POSTAXIAL
POLYDACTYLY, POSTAXIAL 		61 0 28 0.22 0 0
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		61 2 26 0.20 1 8.3E-02
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 53 0.20 0 0
CUI: C0685840
Disease: Congenital hypoplasia of ovary
Congenital hypoplasia of ovary 		44 0 22 0.19 0 0
CUI: C0009714
Disease: Hepatic Fibrosis, Congenital
Hepatic Fibrosis, Congenital 		63 0 25 0.19 0 0
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		20 0 18 0.19 0 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		241 0 53 0.19 0 0
CUI: C0266631
Disease: Accessory spleen
Accessory spleen 		41 0 21 0.19 0 0
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly 		75 0 26 0.18 0 0
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		171 0 40 0.18 0 0
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		53 0 22 0.18 0 0
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		35 7 19 0.18 1 5.9E-02
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		63 0 23 0.17 0 0
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		108 0 29 0.17 0 0
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		137 0 33 0.17 0 0
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		86 163 25 0.16 1 5.8E-03
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 0 38 0.16 0 0
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		60 0 21 0.16 0 0
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		26 0 16 0.16 0 0
CUI: C4023916
Disease: Aplasia/Hypoplasia of the tongue
Aplasia/Hypoplasia of the tongue 		19 0 15 0.16 0 0