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 22 0.54 0 0
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology 		41 0 22 0.42 0 0
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia 		67 0 23 0.30 0 0
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney 		69 0 23 0.29 0 0
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		39 9 15 0.26 1 9.3E-03
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 8 24 0.17 1 9.4E-03
CUI: C1837503
Disease: Small cerebral cortex
Small cerebral cortex 		8 0 6 0.17 0 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		149 0 25 0.16 0 0
CUI: C2749675
Disease: Cortical gyral simplification
Cortical gyral simplification 		39 0 9 0.14 0 0
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		187 0 23 0.12 0 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 0 23 0.10 0 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 0 22 9.9E-02 0 0
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		56 0 8 9.9E-02 0 0
CUI: C1849364
Disease: Absent earlobe
Absent earlobe 		14 0 4 9.3E-02 0 0
CUI: C1842109
Disease: Microcephaly, Primary Autosomal Recessive, 6
Microcephaly, Primary Autosomal Recessive, 6 		3 11 3 9.1E-02 3 2.8E-02
CUI: C2675187
Disease: MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 7 (disorder)
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 7 (disorder) 		3 6 3 9.1E-02 3 2.9E-02
CUI: C4551474
Disease: Seckel syndrome 1
Seckel syndrome 1 		3 0 3 9.1E-02 0 0
CUI: C1855081
Disease: MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1 		7 19 3 8.1E-02 6 5.4E-02
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		36 0 5 7.8E-02 0 0
CUI: C0347915
Disease: Congenital malformation syndromes associated with short stature
Congenital malformation syndromes associated with short stature 		9 0 3 7.7E-02 0 0
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		51 29 6 7.7E-02 4 3.2E-02
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly 		40 0 5 7.4E-02 0 0
CUI: C0175691
Disease: Dubowitz syndrome
Dubowitz syndrome 		12 0 3 7.1E-02 0 0
CUI: C1837501
Disease: Microcephaly, Primary Autosomal Recessive, 5
Microcephaly, Primary Autosomal Recessive, 5 		2 81 2 6.1E-02 20 0.12
CUI: C1858516
Disease: MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE 		2 0 2 6.1E-02 0 0