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: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
955 0 1 9.8E-04 0 0
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
717 0 1 1.3E-03 0 0
Finding of Mean Corpuscular Hemoglobin
653 0 1 1.4E-03 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
595 0 1 1.5E-03 0 0
Red cell distribution width determination
593 0 1 1.5E-03 0 0
RDW - Red blood cell distribution width result
593 0 1 1.5E-03 0 0
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
578 0 1 1.6E-03 0 0
Delayed speech and language development
560 0 1 1.6E-03 0 0
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
505 0 1 1.8E-03 0 0
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
399 0 1 2.2E-03 0 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay
393 0 1 2.2E-03 0 0
CUI: C0037369
Disease: Smoking
Smoking
391 0 1 2.2E-03 0 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
340 0 1 2.5E-03 0 0
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement
338 0 1 2.5E-03 0 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
321 0 1 2.6E-03 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency
315 0 1 2.6E-03 0 0
CUI: C0020619
Disease: Hypogonadism
Hypogonadism
305 0 1 2.7E-03 0 0
CUI: C0021704
Disease: Intelligence
Intelligence
645 0 2 2.8E-03 0 0
CUI: C0521525
Disease: Short neck
Short neck
288 0 1 2.8E-03 0 0
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot
285 0 1 2.9E-03 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
967 0 3 2.9E-03 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
272 0 1 3.0E-03 0 0
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test)
272 0 1 3.0E-03 0 0
CUI: C1262477
Disease: Weight decreased
Weight decreased
271 0 1 3.0E-03 0 0
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy
271 0 1 3.0E-03 0 0