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: C0035085
Disease: Renal infarction
Renal infarction
0 1 0 0 1 1.0E-02
CUI: C0423461
Disease: Cilioretinal artery (disorder)
Cilioretinal artery (disorder)
0 1 0 0 1 1.0E-02
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
0 15 0 0 1 8.9E-03
SPINOCEREBELLAR ATAXIA WITH EPILEPSY
0 2 0 0 1 1.0E-02
CUI: C3160845
Disease: PAI-1 4G/5G polymorphism
PAI-1 4G/5G polymorphism
0 3 0 0 1 1.0E-02
CUI: C3266076
Disease: Orofacial cleft
Orofacial cleft
0 2 0 0 2 2.0E-02
CUI: C3540839
Disease: Neonatal Drug Withdrawal
Neonatal Drug Withdrawal
0 3 0 0 1 1.0E-02
CUI: C3683791
Disease: Ataxia Neuropathy Spectrum
Ataxia Neuropathy Spectrum
0 2 0 0 1 1.0E-02
Homozygous methylenetetrahydrofolate reductase mutation
0 1 0 0 1 1.0E-02
CUI: C3888962
Disease: POLG mutation
POLG mutation
0 7 0 0 1 9.6E-03
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z
0 6 0 0 1 9.7E-03
CUI: C0014591
Disease: Epistaxis
Epistaxis
82 0 1 1.7E-03 0 0
CUI: C0455829
Disease: Waist Circumference
Waist Circumference
70 0 1 1.7E-03 0 0
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests
67 0 1 1.8E-03 0 0
CUI: C0155094
Disease: Corneal pannus
Corneal pannus
66 0 1 1.8E-03 0 0
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity
64 0 1 1.8E-03 0 0
CUI: C0549493
Disease: Alveolitis
Alveolitis
63 0 1 1.8E-03 0 0
CUI: C0340076
Disease: Asthmatic pulmonary eosinophilia
Asthmatic pulmonary eosinophilia
62 0 1 1.8E-03 0 0
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta
61 0 1 1.8E-03 0 0
CUI: C0376670
Disease: Pancreatitis, Alcoholic
Pancreatitis, Alcoholic
61 0 1 1.8E-03 0 0
CUI: C0232744
Disease: Decreased liver function
Decreased liver function
59 0 1 1.8E-03 0 0
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect
59 123 1 1.8E-03 1 4.5E-03
Aspartate aminotransferase measurement
57 0 1 1.8E-03 0 0
CUI: C0235095
Disease: Visual field constriction
Visual field constriction
57 0 1 1.8E-03 0 0
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome
56 0 1 1.8E-03 0 0