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: C3853041
Disease: Severe Congenital Microcephaly
Severe Congenital Microcephaly 		35 0 32 0.74 0 0
CUI: C2749675
Disease: Cortical gyral simplification
Cortical gyral simplification 		39 0 9 0.13 0 0
CUI: C1955869
Disease: Malformations of Cortical Development
Malformations of Cortical Development 		60 0 11 0.12 0 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 18 0.12 0 0
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		51 0 9 0.11 0 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		149 0 16 9.2E-02 0 0
CUI: C1842688
Disease: Hypoplasia of the brainstem
Hypoplasia of the brainstem 		55 0 8 9.2E-02 0 0
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		103 0 12 9.2E-02 0 0
CUI: C1879312
Disease: Agyria
Agyria 		20 0 5 9.1E-02 0 0
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		71 0 9 8.8E-02 0 0
CUI: C0018273
Disease: Growth Disorders
Growth Disorders 		39 0 6 8.2E-02 0 0
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		39 0 6 8.2E-02 0 0
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia 		67 0 8 8.1E-02 0 0
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		67 0 8 8.1E-02 0 0
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		148 0 14 8.0E-02 0 0
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		56 0 7 7.9E-02 0 0
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		142 0 13 7.7E-02 0 0
CUI: C1849172
Disease: Frontal lobe hypoplasia
Frontal lobe hypoplasia 		30 0 5 7.7E-02 0 0
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		33 0 5 7.4E-02 0 0
CUI: C0267072
Disease: Esophageal Dysphagia
Esophageal Dysphagia 		4 0 3 7.3E-02 0 0
CUI: C1848526
Disease: Pontocerebellar Hypoplasia Type 2A
Pontocerebellar Hypoplasia Type 2A 		4 0 3 7.3E-02 0 0
CUI: C0042790
Disease: Vision Disorders
Vision Disorders 		6 0 3 7.0E-02 0 0
CUI: C0233769
Disease: Micropsia
Micropsia 		6 0 3 7.0E-02 0 0
CUI: C0233771
Disease: Macropsia
Macropsia 		6 0 3 7.0E-02 0 0
CUI: C2932714
Disease: Pontocerebellar Hypoplasia Type 2
Pontocerebellar Hypoplasia Type 2 		6 0 3 7.0E-02 0 0