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 1.9E-02
CUI: C0035085
Disease: Renal infarction
Renal infarction 		0 1 0 0 1 2.2E-02
CUI: C0423461
Disease: Cilioretinal artery (disorder)
Cilioretinal artery (disorder) 		0 1 0 0 1 2.2E-02
CUI: C0494491
Disease: Mononeuropathies
Mononeuropathies 		0 2 0 0 1 2.2E-02
CUI: C1401162
Disease: Carbohydrate intolerance
Carbohydrate intolerance 		0 1 0 0 1 2.2E-02
CUI: C2242712
Disease: Hyper LDL cholesterolaemia
Hyper LDL cholesterolaemia 		0 19 0 0 1 1.6E-02
CUI: C3495893
Disease: Congenital thrombophilia
Congenital thrombophilia 		0 1 0 0 1 2.2E-02
CUI: C3540839
Disease: Neonatal Drug Withdrawal
Neonatal Drug Withdrawal 		0 3 0 0 1 2.1E-02
CUI: C3875381
Disease: Homozygous methylenetetrahydrofolate reductase mutation
Homozygous methylenetetrahydrofolate reductase mutation 		0 1 0 0 1 2.2E-02
CUI: C4511035
Disease: Isolated thrombocytopenia
Isolated thrombocytopenia 		0 9 0 0 1 1.9E-02
CUI: C4733577
Disease: adult chronic myelogenous leukemia
adult chronic myelogenous leukemia 		0 3 0 0 2 4.3E-02
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 0 1 1.4E-03 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 1 1.4E-03 0 0
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		118 0 1 1.5E-03 0 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 0 1 1.6E-03 0 0
CUI: C0424230
Disease: Motor retardation
Motor retardation 		98 0 1 1.6E-03 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 1 1.6E-03 0 0
CUI: C0231835
Disease: Tachypnea
Tachypnea 		82 0 1 1.6E-03 0 0
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement 		82 0 1 1.6E-03 0 0
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		79 0 1 1.6E-03 0 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		77 0 1 1.6E-03 0 0
CUI: C1857453
Disease: Renal hypoplasia/aplasia
Renal hypoplasia/aplasia 		73 0 1 1.6E-03 0 0
CUI: C0455829
Disease: Waist Circumference
Waist Circumference 		70 0 1 1.7E-03 0 0
CUI: C0426848
Disease: Sacral dimple
Sacral dimple 		69 0 1 1.7E-03 0 0
CUI: C1844383
Disease: Recurrent bacterial infection
Recurrent bacterial infection 		69 0 1 1.7E-03 0 0