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: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		61 0 1 1.6E-02 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 0 1 1.2E-03 0 0
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		8621 0 1 1.2E-04 0 0
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia 		72 0 1 1.4E-02 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 1 7.9E-04 0 0
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		473 0 1 2.1E-03 0 0
CUI: C0020620
Disease: Hypohidrosis
Hypohidrosis 		69 0 1 1.4E-02 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 0 1 4.4E-03 0 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 0 1 2.2E-03 0 0
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		226 0 1 4.4E-03 0 0
CUI: C0497327
Disease: Dementia
Dementia 		816 0 1 1.2E-03 0 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 0 1 5.3E-03 0 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 0 1 6.6E-03 0 0
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		1071 0 1 9.3E-04 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 1 2.4E-03 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 0 1 3.0E-03 0 0
CUI: C1856932
Disease: Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth)
Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth) 		1 0 1 1.00 0 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		319 0 1 3.1E-03 0 0
CUI: C1863008
Disease: Yellow-brown discoloration of the teeth
Yellow-brown discoloration of the teeth 		7 0 1 0.14 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 1 9.9E-04 0 0
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		8 0 1 0.12 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 0 1 2.3E-03 0 0
CUI: C3281160
Disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 		7 0 1 0.14 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 1 4.6E-04 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 1 2.1E-03 0 0