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: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		108 0 24 9.1E-02 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 0 62 9.0E-02 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 48 8.9E-02 1 7.4E-03
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification 		103 0 23 8.8E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 92 8.7E-02 0 0
CUI: C0235095
Disease: Visual field constriction
Visual field constriction 		57 0 19 8.7E-02 0 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 0 27 8.7E-02 0 0
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		121 0 24 8.7E-02 0 0
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		35 0 17 8.6E-02 0 0
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		113 0 23 8.5E-02 0 0
CUI: C1855285
Disease: Protruding ear
Protruding ear 		152 0 26 8.5E-02 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 74 8.4E-02 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 74 8.4E-02 0 0
CUI: C0003578
Disease: Apnea
Apnea 		262 0 34 8.3E-02 0 0
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		71 5 19 8.2E-02 1 9.5E-03
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 0 24 8.1E-02 0 0
CUI: C4025821
Disease: Anterior hypopituitarism
Anterior hypopituitarism 		48 0 17 8.1E-02 0 0
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly 		75 0 19 8.1E-02 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 75 8.0E-02 0 0
CUI: C0424448
Disease: Mask-like facies
Mask-like facies 		64 0 18 8.0E-02 0 0
CUI: C1858430
Disease: Death in infancy
Death in infancy 		146 0 24 7.9E-02 0 0
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		81 0 19 7.9E-02 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 56 7.8E-02 1 5.6E-03
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		239 0 30 7.7E-02 0 0
CUI: C4520679
Disease: Abnormal macular morphology
Abnormal macular morphology 		30 0 15 7.7E-02 0 0