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: C0271270
Disease: Oculovestibuloauditory syndrome
Oculovestibuloauditory syndrome 		87 0 13 9.8E-02 0 0
CUI: C0702169
Disease: Acrania
Acrania 		31 0 8 9.8E-02 0 0
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		121 0 16 9.8E-02 0 0
CUI: C0240896
Disease: Fundus coloboma
Fundus coloboma 		57 0 10 9.4E-02 0 0
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		92 0 13 9.4E-02 0 0
CUI: C1855675
Disease: Arima syndrome
Arima syndrome 		11 0 6 9.4E-02 0 0
CUI: C3540764
Disease: Coloboma of the Retina
Coloboma of the Retina 		58 0 10 9.3E-02 0 0
CUI: C4551722
Disease: Encephalocele
Encephalocele 		23 7 7 9.3E-02 1 6.2E-02
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		117 0 15 9.3E-02 0 0
CUI: C0266453
Disease: Exencephaly
Exencephaly 		47 0 9 9.3E-02 0 0
CUI: C0080218
Disease: Tethered Cord Syndrome
Tethered Cord Syndrome 		41 0 8 8.7E-02 0 0
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		304 122 29 8.7E-02 8 6.5E-02
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		129 0 15 8.7E-02 0 0
CUI: C4024669
Disease: Asymmetry of spinal facet joints
Asymmetry of spinal facet joints 		5 0 5 8.5E-02 0 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		149 0 16 8.3E-02 0 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 0 12 8.2E-02 0 0
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		148 0 14 7.3E-02 0 0
CUI: C0344490
Disease: Sacral agenesis
Sacral agenesis 		15 0 5 7.2E-02 0 0
CUI: C0267818
Disease: Bile duct proliferation
Bile duct proliferation 		30 0 6 7.2E-02 0 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		153 0 14 7.1E-02 0 0
CUI: C0431565
Disease: Hamartoma of tongue
Hamartoma of tongue 		18 0 5 6.9E-02 0 0
CUI: C0152427
Disease: Polydactyly
Polydactyly 		188 0 16 6.9E-02 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 18 6.8E-02 0 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		241 0 19 6.8E-02 0 0
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		20 0 5 6.8E-02 0 0