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: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 55 0.16 0 0
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		93 0 34 0.14 0 0
CUI: C1855676
Disease: Aplasia/Hypoplasia of the cerebellar vermis
Aplasia/Hypoplasia of the cerebellar vermis 		30 0 25 0.14 0 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		168 0 40 0.13 0 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 0 40 0.12 0 0
CUI: C3808249
Disease: Abnormality of the optic disc
Abnormality of the optic disc 		26 0 22 0.12 0 0
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		116 0 31 0.12 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 0 50 0.11 0 0
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		121 0 30 0.11 0 0
CUI: C0375206
Disease: Hemiplegia/hemiparesis
Hemiplegia/hemiparesis 		112 0 29 0.11 0 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		241 0 41 0.11 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		36 0 21 0.11 0 0
CUI: C0001403
Disease: Addison Disease
Addison Disease 		111 0 28 0.11 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 0 39 0.11 0 0
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		199 29 35 0.10 2 1.6E-02
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		422 0 55 0.10 0 0
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		194 0 33 9.7E-02 0 0
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		60 0 21 9.6E-02 0 0
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		83 0 23 9.6E-02 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 35 9.5E-02 0 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 0 24 9.4E-02 0 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		219 0 34 9.3E-02 0 0
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE 		175 0 30 9.2E-02 0 0
CUI: C3714745
Disease: Malabsorption
Malabsorption 		175 0 30 9.2E-02 0 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 50 26 9.2E-02 1 6.7E-03