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: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
104 0 1 2.4E-03 0 0
Congenital Disorders of Glycosylation
102 0 1 2.4E-03 0 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia
100 0 1 2.4E-03 0 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc
98 0 1 2.5E-03 0 0
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis
94 0 1 2.5E-03 0 0
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy
94 0 1 2.5E-03 0 0
CUI: C0850703
Disease: Frequent falls
Frequent falls
94 0 1 2.5E-03 0 0
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy
94 0 1 2.5E-03 0 0
CUI: C1720983
Disease: Channelopathies
Channelopathies
94 0 1 2.5E-03 0 0
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy
93 0 1 2.5E-03 0 0
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
91 0 1 2.5E-03 0 0
CUI: C0337438
Disease: Glucose measurement
Glucose measurement
89 0 1 2.5E-03 0 0
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level
89 0 1 2.5E-03 0 0
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
86 0 1 2.5E-03 0 0
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology
86 0 1 2.5E-03 0 0
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis
85 0 1 2.5E-03 0 0
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger
85 0 1 2.5E-03 0 0
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum
84 0 1 2.5E-03 0 0
CUI: C0236018
Disease: Aura
Aura
83 0 1 2.5E-03 0 0
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
83 0 1 2.5E-03 0 0
CUI: C0231835
Disease: Tachypnea
Tachypnea
82 0 1 2.6E-03 0 0
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement
82 0 1 2.6E-03 0 0
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
82 0 1 2.6E-03 0 0
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
82 0 1 2.6E-03 0 0
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
82 0 1 2.6E-03 0 0