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: C0000731
Disease: Abdomen distended
Abdomen distended
103 0 1 9.7E-03 0 0
Abnormality of metabolism/homeostasis
171 0 1 5.8E-03 0 0
Abnormality of the intrahepatic bile duct
10 0 1 1.0E-01 0 0
CUI: C4317107
Disease: Abnormality of the thyroid gland
Abnormality of the thyroid gland
21 0 1 4.8E-02 0 0
CUI: C1629609
Disease: Age at menopause
Age at menopause
129 0 1 7.8E-03 0 0
CUI: C0151849
Disease: Alkaline phosphatase raised
Alkaline phosphatase raised
55 0 1 1.8E-02 0 0
CUI: C0151480
Disease: Anti-nuclear factor positive
Anti-nuclear factor positive
35 0 1 2.9E-02 0 0
CUI: C0003962
Disease: Ascites
Ascites
198 0 1 5.1E-03 0 0
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
1071 0 1 9.3E-04 0 0
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
1758 0 1 5.7E-04 0 0
CUI: C0544966
Disease: Autophagic vaculoes (finding)
Autophagic vaculoes (finding)
6 0 1 0.17 0 0
CUI: C0023892
Disease: Biliary cirrhosis
Biliary cirrhosis
132 0 1 7.6E-03 0 0
Caused by mutation in the transportin 3 gene (TNPO3, 610032.0001)
1 0 1 1.00 0 0
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
527 0 1 1.9E-03 0 0
Centrally nucleated skeletal muscle fibers
25 0 1 4.0E-02 0 0
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
1740 0 1 5.7E-04 0 0
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
919 0 1 1.1E-03 0 0
CUI: C0268307
Disease: Conjugated hyperbilirubinemia
Conjugated hyperbilirubinemia
32 0 1 3.1E-02 0 0
CUI: C0343065
Disease: Dermatographic urticaria
Dermatographic urticaria
12 0 1 8.3E-02 0 0
CUI: C0560346
Disease: Difficulty running
Difficulty running
38 3 1 2.6E-02 1 0.20
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities
115 16 1 8.7E-03 1 5.6E-02
CUI: C0694563
Disease: Excessive daytime somnolence
Excessive daytime somnolence
39 0 1 2.6E-02 0 0
CUI: C0015672
Disease: Fatigue
Fatigue
760 0 1 1.3E-03 0 0
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
1179 0 1 8.5E-04 0 0
CUI: C1535950
Disease: Gastrointestinal inflammation
Gastrointestinal inflammation
39 0 1 2.6E-02 0 0