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 15 0.28 0 0
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		33 99 15 0.26 1 9.3E-03
CUI: C2749675
Disease: Cortical gyral simplification
Cortical gyral simplification 		39 0 15 0.24 0 0
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology 		41 0 14 0.21 0 0
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney 		69 0 17 0.19 0 0
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia 		67 0 15 0.16 0 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		149 0 26 0.16 0 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 23 0.16 0 0
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		56 0 13 0.16 0 0
CUI: C1849364
Disease: Absent earlobe
Absent earlobe 		14 0 6 0.13 0 0
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		51 29 10 0.12 1 2.7E-02
CUI: C1837503
Disease: Small cerebral cortex
Small cerebral cortex 		8 0 5 0.12 0 0
CUI: C3853041
Disease: Severe Congenital Microcephaly
Severe Congenital Microcephaly 		35 0 6 8.8E-02 0 0
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		36 0 6 8.7E-02 0 0
CUI: C1865037
Disease: Cone-shaped epiphysis
Cone-shaped epiphysis 		49 0 7 8.6E-02 0 0
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		25 0 5 8.5E-02 0 0
CUI: C1857656
Disease: Prematurely aged appearance
Prematurely aged appearance 		40 0 6 8.2E-02 0 0
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly 		40 0 6 8.2E-02 0 0
CUI: C1842109
Disease: Microcephaly, Primary Autosomal Recessive, 6
Microcephaly, Primary Autosomal Recessive, 6 		3 11 3 7.7E-02 1 5.3E-02
CUI: C2675187
Disease: MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 7 (disorder)
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 7 (disorder) 		3 0 3 7.7E-02 0 0
CUI: C1863516
Disease: Microcephaly with Simplified Gyral Pattern
Microcephaly with Simplified Gyral Pattern 		4 0 3 7.5E-02 0 0
CUI: C4024202
Disease: Reduced number of teeth
Reduced number of teeth 		67 0 7 7.1E-02 0 0
CUI: C1855081
Disease: MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1 		7 0 3 7.0E-02 0 0
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		69 0 7 6.9E-02 0 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 0 16 6.7E-02 0 0