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: C0152427
Disease: Polydactyly
Polydactyly 		188 0 72 0.20 0 0
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		92 0 53 0.19 0 0
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		93 0 48 0.17 0 0
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		95 187 48 0.17 2 1.0E-02
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		104 0 49 0.17 0 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		219 0 64 0.16 0 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 0 60 0.16 0 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 0 54 0.16 0 0
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		96 0 45 0.15 0 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 0 53 0.14 0 0
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		35 7 33 0.14 1 7.7E-02
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		61 0 36 0.14 0 0
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		400 0 76 0.13 0 0
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		108 0 41 0.13 0 0
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly 		75 0 36 0.13 0 0
CUI: C0009714
Disease: Hepatic Fibrosis, Congenital
Hepatic Fibrosis, Congenital 		63 0 34 0.13 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 5 51 0.13 1 9.1E-02
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 53 0.12 0 0
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		121 0 40 0.12 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 51 0.12 0 0
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		473 0 78 0.12 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 0 70 0.12 0 0
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		86 0 35 0.12 0 0
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		53 0 31 0.12 0 0
CUI: C2112129
Disease: Postaxial foot polydactyly
Postaxial foot polydactyly 		45 0 30 0.12 0 0