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: C4277690
Disease: Ciliopathies
Ciliopathies 		241 0 78 0.12 0 0
CUI: C0018681
Disease: Headache
Headache 		338 75 88 0.12 2 1.8E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 159 0.12 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 154 0.12 1 1.6E-03
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		384 0 91 0.12 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 93 0.12 3 4.3E-02
CUI: C0600031
Disease: Congenital absence of spleen
Congenital absence of spleen 		80 0 58 0.12 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 130 0.12 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 130 0.12 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 238 0.12 4 6.8E-03
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		139 0 63 0.11 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 158 0.11 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 178 0.11 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 162 0.11 1 3.0E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 132 0.11 0 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 337 122 0.11 2 5.4E-03
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 51 104 0.11 1 1.1E-02
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		160 0 63 0.11 0 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		422 0 89 0.11 0 0
CUI: C0004144
Disease: Atelectasis
Atelectasis 		62 0 53 0.11 0 0
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		510 0 97 0.11 0 0
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		108 0 57 0.11 0 0
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		171 0 63 0.11 0 0
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		1098 0 152 0.11 0 0
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		199 29 65 0.11 2 3.1E-02