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: C4024748
Disease: Aplasia/Hypoplasia of the iris
Aplasia/Hypoplasia of the iris 		52 0 14 0.15 0 0
CUI: C0030283
Disease: Pancreatic Cyst
Pancreatic Cyst 		60 0 15 0.15 0 0
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		60 0 15 0.15 0 0
CUI: C0267952
Disease: Fibrosis of pancreas
Fibrosis of pancreas 		72 0 16 0.15 0 0
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly 		75 0 16 0.14 0 0
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		61 0 14 0.14 0 0
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		70 0 15 0.14 0 0
CUI: C0271270
Disease: Oculovestibuloauditory syndrome
Oculovestibuloauditory syndrome 		87 0 17 0.14 0 0
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		104 0 19 0.14 0 0
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		89 0 17 0.14 0 0
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		92 0 17 0.13 0 0
CUI: C0600031
Disease: Congenital absence of spleen
Congenital absence of spleen 		80 0 15 0.13 0 0
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		108 0 18 0.13 0 0
CUI: C1301937
Disease: Talipes
Talipes 		74 0 14 0.12 0 0
CUI: C1855675
Disease: Arima syndrome
Arima syndrome 		11 0 7 0.12 0 0
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		121 0 19 0.12 0 0
CUI: C0311245
Disease: Congenital cystic kidney disease
Congenital cystic kidney disease 		31 0 9 0.12 0 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		241 0 31 0.12 0 0
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		96 0 15 0.11 0 0
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		137 0 19 0.11 0 0
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		129 0 18 0.11 0 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 0 15 0.11 0 0
CUI: C0267818
Disease: Bile duct proliferation
Bile duct proliferation 		30 0 8 0.11 0 0
CUI: C1866231
Disease: Full cheeks
Full cheeks 		103 0 15 0.11 0 0
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		117 0 15 9.7E-02 0 0