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: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
1156 0 1 8.5E-04 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
967 0 1 1.0E-03 0 0
Sensorineural Hearing Loss (disorder)
783 0 1 1.2E-03 0 0
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
681 0 1 1.4E-03 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism
1261 0 2 1.6E-03 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
595 0 1 1.6E-03 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
580 0 1 1.6E-03 0 0
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
563 0 1 1.7E-03 0 0
Delayed speech and language development
560 0 1 1.7E-03 0 0
High density lipoprotein measurement
545 0 1 1.7E-03 0 0
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
536 0 1 1.8E-03 0 0
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
535 0 1 1.8E-03 0 0
CUI: C0040822
Disease: Tremor
Tremor
528 0 1 1.8E-03 0 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
523 0 1 1.8E-03 0 0
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
507 0 1 1.9E-03 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
497 0 1 1.9E-03 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
1010 0 2 1.9E-03 0 0
CUI: C0239234
Disease: Low set ears
Low set ears
489 0 1 1.9E-03 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria
487 0 1 1.9E-03 0 0
Low density lipoprotein cholesterol measurement
483 0 1 2.0E-03 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE
477 0 1 2.0E-03 0 0
CUI: C0005890
Disease: Body Height
Body Height
1903 0 4 2.1E-03 0 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
454 0 1 2.1E-03 0 0
CUI: C0013421
Disease: Dystonia
Dystonia
453 0 1 2.1E-03 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
439 0 1 2.1E-03 0 0