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: C1849172
Disease: Frontal lobe hypoplasia
Frontal lobe hypoplasia 		30 0 24 0.32 0 0
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		33 0 23 0.29 0 0
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology 		41 0 22 0.25 0 0
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia 		67 0 23 0.20 0 0
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		39 0 17 0.19 0 0
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		187 0 37 0.17 0 0
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney 		33 3 12 0.13 1 0.11
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 23 0.13 0 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		149 0 25 0.13 0 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 0 31 0.12 0 0
CUI: C1619700
Disease: RENAL ADYSPLASIA
RENAL ADYSPLASIA 		29 0 10 0.11 0 0
CUI: C2749675
Disease: Cortical gyral simplification
Cortical gyral simplification 		39 0 11 0.11 0 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 0 28 0.11 0 0
CUI: C1609433
Disease: Congenital absence of kidneys syndrome
Congenital absence of kidneys syndrome 		110 0 16 9.8E-02 0 0
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney 		96 0 12 7.8E-02 0 0
CUI: C0685695
Disease: Abnormal lung lobation
Abnormal lung lobation 		32 0 7 7.4E-02 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 33 7.4E-02 0 0
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		51 0 8 7.1E-02 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 0 33 7.1E-02 0 0
CUI: C1837503
Disease: Small cerebral cortex
Small cerebral cortex 		8 0 5 6.9E-02 0 0
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		56 0 8 6.8E-02 0 0
CUI: C1968949
Disease: Cakut
Cakut 		72 0 9 6.8E-02 0 0
CUI: C3536714
Disease: Renal dysplasia
Renal dysplasia 		95 0 10 6.5E-02 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 30 6.4E-02 0 0
CUI: C0235831
Disease: Renal Cell Dysplasia
Renal Cell Dysplasia 		81 0 9 6.4E-02 0 0