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: C0029456
Disease: Osteoporosis
Osteoporosis
1098 0 1 9.1E-04 0 0
Childhood Acute Lymphoblastic Leukemia
1096 0 1 9.1E-04 0 0
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
1037 0 1 9.6E-04 0 0
CUI: C0015967
Disease: Fever
Fever
1021 0 1 9.8E-04 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
1010 0 1 9.9E-04 0 0
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
977 0 1 1.0E-03 0 0
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
925 0 1 1.1E-03 0 0
CUI: C0004134
Disease: Ataxia
Ataxia
868 68 1 1.2E-03 1 1.5E-02
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
842 0 1 1.2E-03 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus
833 0 1 1.2E-03 0 0
CUI: C0497327
Disease: Dementia
Dementia
816 0 1 1.2E-03 0 0
Sensorineural Hearing Loss (disorder)
783 0 1 1.3E-03 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
779 0 1 1.3E-03 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
779 0 1 1.3E-03 0 0
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
766 0 1 1.3E-03 0 0
CUI: C1384666
Disease: hearing impairment
hearing impairment
740 0 1 1.4E-03 0 0
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
714 0 1 1.4E-03 0 0
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
669 0 1 1.5E-03 0 0
CUI: C0026848
Disease: Myopathy
Myopathy
634 0 1 1.6E-03 0 0
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance
596 0 1 1.7E-03 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
590 77 1 1.7E-03 1 1.3E-02
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
580 0 1 1.7E-03 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
568 0 1 1.8E-03 0 0
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
560 0 1 1.8E-03 0 0
Delayed speech and language development
560 0 1 1.8E-03 0 0