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: C0022679
Disease: Cystic kidney
Cystic kidney 		89 0 34 0.11 0 0
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		60 0 31 0.11 0 0
CUI: C0600031
Disease: Congenital absence of spleen
Congenital absence of spleen 		80 0 33 0.11 0 0
CUI: C0220697
Disease: POLYDACTYLY, POSTAXIAL
POLYDACTYLY, POSTAXIAL 		61 0 31 0.11 0 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 0 35 0.11 0 0
CUI: C3887499
Disease: Renal cyst
Renal cyst 		170 0 41 0.11 0 0
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		180 0 41 0.11 0 0
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		276 0 50 0.11 0 0
CUI: C3806218
Disease: Episodic tachypnea
Episodic tachypnea 		31 0 26 0.11 0 0
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		291 0 50 0.10 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 95 0.10 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 95 0.10 0 0
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		148 0 36 0.10 0 0
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		42 0 26 0.10 0 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		153 0 36 0.10 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 97 9.9E-02 1 9.9E-03
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		137 0 34 9.9E-02 0 0
CUI: C1395852
Disease: Polydactyly preaxial type 1
Polydactyly preaxial type 1 		49 0 26 9.8E-02 0 0
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		546 0 69 9.6E-02 0 0
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 0 33 9.5E-02 0 0
CUI: C0456909
Disease: Blindness
Blindness 		393 34 54 9.3E-02 1 2.5E-02
CUI: C1865037
Disease: Cone-shaped epiphysis
Cone-shaped epiphysis 		49 0 24 9.0E-02 0 0
CUI: C1691228
Disease: Cystic Kidney Diseases
Cystic Kidney Diseases 		50 0 24 9.0E-02 0 0
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		305 0 45 9.0E-02 0 0
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		26 0 22 9.0E-02 0 0