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: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		148 0 14 5.9E-02 0 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		153 0 14 5.8E-02 0 0
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 0 13 5.6E-02 0 0
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		108 8 11 5.5E-02 1 7.2E-03
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 17 5.3E-02 2 1.0E-02
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 0 14 5.3E-02 0 0
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		137 0 12 5.2E-02 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 49 24 5.2E-02 1 5.6E-03
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 0 10 5.2E-02 0 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 0 15 5.0E-02 0 0
CUI: C2673431
Disease: Abnormality of the periventricular white matter
Abnormality of the periventricular white matter 		45 0 7 4.9E-02 0 0
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		109 0 10 4.9E-02 0 0
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		67 0 8 4.9E-02 0 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 0 13 4.8E-02 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 24 4.7E-02 0 0
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		96 0 9 4.7E-02 0 0
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly 		75 0 8 4.7E-02 0 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 126 13 4.7E-02 1 3.9E-03
CUI: C0014877
Disease: Esotropia
Esotropia 		121 39 10 4.7E-02 2 1.2E-02
CUI: C0024433
Disease: Macrostomia
Macrostomia 		148 0 11 4.6E-02 0 0
CUI: C0240896
Disease: Fundus coloboma
Fundus coloboma 		57 0 7 4.5E-02 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 46 4.5E-02 1 3.4E-03
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 32 23 4.5E-02 1 6.2E-03
CUI: C3540764
Disease: Coloboma of the Retina
Coloboma of the Retina 		58 0 7 4.5E-02 0 0
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		35 0 6 4.5E-02 0 0