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: C0341479
Disease: Infected pancreatic necrosis
Infected pancreatic necrosis
0 2 0 0 1 9.1E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus
833 0 1 1.1E-03 0 0
Sensorineural Hearing Loss (disorder)
783 0 1 1.2E-03 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
779 0 1 1.2E-03 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
779 0 1 1.2E-03 0 0
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
717 0 1 1.3E-03 0 0
CUI: C0038379
Disease: Strabismus
Strabismus
716 0 1 1.3E-03 0 0
CUI: C0033377
Disease: Ptosis
Ptosis
607 0 1 1.5E-03 0 0
CUI: C0005890
Disease: Body Height
Body Height
1903 0 3 1.5E-03 0 0
Red cell distribution width determination
593 0 1 1.6E-03 0 0
RDW - Red blood cell distribution width result
593 0 1 1.6E-03 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism
586 0 1 1.6E-03 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria
487 0 1 1.9E-03 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
473 0 1 1.9E-03 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
967 0 2 2.0E-03 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
955 0 2 2.0E-03 0 0
CUI: C0013421
Disease: Dystonia
Dystonia
453 0 1 2.0E-03 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
439 0 1 2.1E-03 0 0
CUI: C0042834
Disease: Vital capacity
Vital capacity
430 0 1 2.1E-03 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
429 0 1 2.1E-03 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding)
427 0 1 2.1E-03 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
426 0 1 2.1E-03 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly
410 0 1 2.2E-03 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
407 0 1 2.2E-03 0 0
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
399 0 1 2.3E-03 0 0