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: C0002896
Disease: Sideroblastic anemia
Sideroblastic anemia 		0 11 0 0 1 9.1E-02
CUI: C0042485
Disease: Venous Insufficiency
Venous Insufficiency 		0 1 0 0 1 1.00
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney 		0 8 0 0 1 0.12
CUI: C0702157
Disease: Thalassemia trait
Thalassemia trait 		0 2 0 0 1 0.50
CUI: C0854076
Disease: Distal ileal obstruction syndrome
Distal ileal obstruction syndrome 		0 2 0 0 1 0.50
CUI: C0878520
Disease: beta Thalassemia, heterozygous
beta Thalassemia, heterozygous 		0 2 0 0 1 0.50
CUI: C1262483
Disease: Hereditary stomatocytosis
Hereditary stomatocytosis 		0 2 0 0 1 0.50
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 1 1.1E-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: C0038379
Disease: Strabismus
Strabismus 		716 0 1 1.3E-03 0 0
CUI: C0005890
Disease: Body Height
Body Height 		1903 0 3 1.5E-03 0 0
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		593 0 1 1.6E-03 0 0
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		593 0 1 1.6E-03 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 0 1 1.9E-03 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 0 1 1.9E-03 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 1 2.1E-03 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 1 2.2E-03 0 0
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		401 4389 1 2.3E-03 1 2.3E-04
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 1 2.3E-03 0 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		367 0 1 2.4E-03 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 0 2 2.6E-03 0 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		321 0 1 2.8E-03 0 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		319 0 1 2.8E-03 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 1 2.8E-03 0 0