Source: ALL
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: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 1 1.3E-03 0 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 0 1 1.3E-03 0 0
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		84 0 1 1.3E-03 0 0
CUI: C0231835
Disease: Tachypnea
Tachypnea 		82 0 1 1.3E-03 0 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		77 0 1 1.3E-03 0 0
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		75 0 1 1.3E-03 0 0
CUI: C3554617
Disease: Adducted thumb
Adducted thumb 		74 0 1 1.3E-03 0 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		73 0 1 1.3E-03 0 0
CUI: C0521620
Disease: Dilatation of ureter
Dilatation of ureter 		72 0 1 1.3E-03 0 0
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		71 0 1 1.3E-03 0 0
CUI: C0238621
Disease: Aminoaciduria
Aminoaciduria 		68 0 1 1.3E-03 0 0
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		67 0 1 1.3E-03 0 0
CUI: C3501844
Disease: Familial Nonmedullary Thyroid Cancer
Familial Nonmedullary Thyroid Cancer 		66 0 1 1.3E-03 0 0
CUI: C0376705
Disease: Viral Load result
Viral Load result 		65 0 1 1.3E-03 0 0
CUI: C1862095
Disease: Bilateral single transverse palmar creases
Bilateral single transverse palmar creases 		65 0 1 1.3E-03 0 0
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		63 0 1 1.3E-03 0 0
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		63 0 1 1.3E-03 0 0
CUI: C1847514
Disease: Postnatal microcephaly
Postnatal microcephaly 		62 0 1 1.3E-03 0 0
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		61 0 1 1.3E-03 0 0
CUI: C0220697
Disease: POLYDACTYLY, POSTAXIAL
POLYDACTYLY, POSTAXIAL 		61 0 1 1.3E-03 0 0
CUI: C0263523
Disease: Micronychia (disorder)
Micronychia (disorder) 		60 0 1 1.3E-03 0 0
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		60 0 1 1.3E-03 0 0
CUI: C1855483
Disease: Progressive spastic paraplegia
Progressive spastic paraplegia 		59 0 1 1.3E-03 0 0
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		58 20 1 1.3E-03 1 1.6E-03
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval 		57 0 1 1.3E-03 0 0