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: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		0 9 0 0 1 9.1E-02
CUI: C0035085
Disease: Renal infarction
Renal infarction 		0 1 0 0 1 0.33
CUI: C0342342
Disease: Idiopathic Hypoparathyroidism
Idiopathic Hypoparathyroidism 		0 5 0 0 1 0.14
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		0 123 0 0 1 8.0E-03
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		0 144 0 0 1 6.8E-03
CUI: C3160845
Disease: PAI-1 4G/5G polymorphism
PAI-1 4G/5G polymorphism 		0 3 0 0 1 0.20
CUI: C3495893
Disease: Congenital thrombophilia
Congenital thrombophilia 		0 1 0 0 1 0.33
CUI: C3875381
Disease: Homozygous methylenetetrahydrofolate reductase mutation
Homozygous methylenetetrahydrofolate reductase mutation 		0 1 0 0 1 0.33
CUI: C4022560
Disease: Splanchnic vein thrombosis
Splanchnic vein thrombosis 		0 2 0 0 1 0.25
CUI: C4511035
Disease: Isolated thrombocytopenia
Isolated thrombocytopenia 		0 9 0 0 1 9.1E-02
CUI: C4733577
Disease: adult chronic myelogenous leukemia
adult chronic myelogenous leukemia 		0 3 0 0 1 0.20
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 1 1.0E-03 0 0
CUI: C0005890
Disease: Body Height
Body Height 		1903 0 2 1.0E-03 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 0 1 1.9E-03 0 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		393 0 1 2.3E-03 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 1 2.3E-03 0 0
CUI: C1854301
Disease: Motor delay
Motor delay 		384 0 1 2.3E-03 0 0
CUI: C2347761
Disease: Childhood Myelodysplastic Syndrome
Childhood Myelodysplastic Syndrome 		335 0 1 2.6E-03 0 0
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome 		332 0 1 2.7E-03 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 0 1 2.7E-03 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 0 1 2.7E-03 0 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		321 0 1 2.7E-03 0 0
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		681 0 2 2.8E-03 0 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		318 0 1 2.8E-03 0 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 1 2.8E-03 0 0