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: C1837503
Disease: Small cerebral cortex
Small cerebral cortex 		8 0 1 0.12 0 0
CUI: C1849172
Disease: Frontal lobe hypoplasia
Frontal lobe hypoplasia 		30 0 1 3.3E-02 0 0
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		33 99 1 3.0E-02 2 1.8E-02
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		39 0 1 2.6E-02 0 0
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology 		41 0 1 2.4E-02 0 0
CUI: C0346421
Disease: Chronic eosinophilic leukemia
Chronic eosinophilic leukemia 		42 0 1 2.4E-02 0 0
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		51 0 1 2.0E-02 0 0
CUI: C0015393
Disease: Eye Abnormalities
Eye Abnormalities 		55 0 1 1.8E-02 0 0
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia 		67 0 1 1.5E-02 0 0
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney 		69 0 1 1.4E-02 0 0
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		89 0 1 1.1E-02 0 0
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		105 0 1 9.5E-03 0 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 1 7.8E-03 0 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		149 0 1 6.7E-03 0 0
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		183 0 1 5.5E-03 0 0
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		187 0 1 5.3E-03 0 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 0 1 4.7E-03 0 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 0 1 4.6E-03 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 0 1 4.0E-03 0 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		337 0 1 3.0E-03 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 1 2.4E-03 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 0 1 2.3E-03 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 1 2.3E-03 0 0
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder 		430 0 1 2.3E-03 0 0
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		505 0 1 2.0E-03 0 0