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: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		51 0 8 6.2E-02 0 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 0 18 6.2E-02 0 0
CUI: C0078982
Disease: Arhinencephaly
Arhinencephaly 		35 0 7 6.1E-02 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 19 36 6.1E-02 1 4.0E-02
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 0 31 6.1E-02 0 0
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		71 0 9 6.1E-02 0 0
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly 		74 0 9 6.0E-02 0 0
CUI: C0004158
Disease: Athetosis
Athetosis 		39 0 7 5.9E-02 0 0
CUI: C0034372
Disease: Quadriplegia
Quadriplegia 		57 3 8 5.9E-02 1 0.11
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 12 5.9E-02 0 0
CUI: C1859236
Disease: Prolonged neonatal jaundice
Prolonged neonatal jaundice 		59 0 8 5.8E-02 0 0
CUI: C1704356
Disease: Enchondroma
Enchondroma 		41 0 7 5.8E-02 0 0
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		60 0 8 5.8E-02 0 0
CUI: C0270790
Disease: Quadriparesis
Quadriparesis 		42 0 7 5.8E-02 0 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 0 13 5.8E-02 0 0
CUI: C3489724
Disease: Aicardi-Goutieres Syndrome 2
Aicardi-Goutieres Syndrome 2 		6 0 5 5.7E-02 0 0
CUI: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
AICARDI-GOUTIERES SYNDROME 1 		7 0 5 5.7E-02 0 0
CUI: C3489725
Disease: Pseudo-TORCH syndrome
Pseudo-TORCH syndrome 		7 0 5 5.7E-02 0 0
CUI: C1837108
Disease: Decreased muscle mass
Decreased muscle mass 		65 12 8 5.6E-02 1 5.6E-02
CUI: C0019825
Disease: Hoarseness
Hoarseness 		84 0 9 5.6E-02 0 0
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification 		103 0 10 5.6E-02 0 0
CUI: C4022769
Disease: Small basal ganglia
Small basal ganglia 		10 0 5 5.5E-02 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 59 5.4E-02 0 0
CUI: C0004368
Disease: Autoimmune state
Autoimmune state 		70 0 8 5.4E-02 0 0
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 15 5.4E-02 0 0