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: C0027947
Disease: Neutropenia
Neutropenia 		389 0 1 2.6E-03 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 1 2.6E-03 0 0
CUI: C1854301
Disease: Motor delay
Motor delay 		384 0 1 2.6E-03 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 0 1 3.1E-03 0 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		318 0 1 3.1E-03 0 0
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		285 44 1 3.5E-03 1 2.3E-02
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 0 1 3.7E-03 0 0
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		267 0 1 3.7E-03 0 0
CUI: C0456070
Disease: Growth delay
Growth delay 		244 40 1 4.1E-03 1 2.5E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		232 0 1 4.3E-03 0 0
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		225 0 1 4.4E-03 0 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		212 0 1 4.7E-03 0 0
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		197 0 1 5.1E-03 0 0
CUI: C0151526
Disease: Premature Birth
Premature Birth 		192 50 1 5.2E-03 1 2.0E-02
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 0 1 5.3E-03 0 0
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		181 34 1 5.5E-03 1 2.9E-02
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		168 0 1 6.0E-03 0 0
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		168 27 1 6.0E-03 1 3.7E-02
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		159 25 1 6.3E-03 1 4.0E-02
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		156 0 1 6.4E-03 0 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		149 0 1 6.7E-03 0 0
CUI: C2700617
Disease: Irritation - emotion
Irritation - emotion 		147 0 1 6.8E-03 0 0
CUI: C0022107
Disease: Irritable Mood
Irritable Mood 		142 0 1 7.0E-03 0 0
CUI: C4552810
Disease: Irritability, CTCAE
Irritability, CTCAE 		140 0 1 7.1E-03 0 0
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		138 0 1 7.2E-03 0 0