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: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		60 0 14 0.19 0 0
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		61 0 14 0.19 0 0
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		93 0 19 0.19 0 0
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		95 187 19 0.19 86 0.42
CUI: C0267952
Disease: Fibrosis of pancreas
Fibrosis of pancreas 		72 0 15 0.18 0 0
CUI: C1301937
Disease: Talipes
Talipes 		74 0 15 0.18 0 0
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly 		75 0 15 0.17 0 0
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		104 0 19 0.17 0 0
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		70 0 14 0.17 0 0
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		108 0 19 0.17 0 0
CUI: C0600031
Disease: Congenital absence of spleen
Congenital absence of spleen 		80 0 15 0.16 0 0
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		92 0 16 0.16 0 0
CUI: C0271270
Disease: Oculovestibuloauditory syndrome
Oculovestibuloauditory syndrome 		87 0 15 0.15 0 0
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		89 0 15 0.15 0 0
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		92 0 15 0.15 0 0
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		137 9 20 0.14 1 8.8E-03
CUI: C3810214
Disease: Elongated superior cerebellar peduncle
Elongated superior cerebellar peduncle 		7 0 4 0.14 0 0
CUI: C0240896
Disease: Fundus coloboma
Fundus coloboma 		57 0 10 0.14 0 0
CUI: C3540764
Disease: Coloboma of the Retina
Coloboma of the Retina 		58 0 10 0.14 0 0
CUI: C1866231
Disease: Full cheeks
Full cheeks 		103 0 15 0.13 0 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 26 14 0.12 3 2.3E-02
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		11 0 4 0.12 0 0
CUI: C0267818
Disease: Bile duct proliferation
Bile duct proliferation 		30 0 6 0.12 0 0
CUI: C3275899
Disease: Hyperechogenic kidneys
Hyperechogenic kidneys 		12 2 4 0.12 1 9.4E-03
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		117 0 15 0.12 0 0