Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Caused by mutation in the transportin 3 gene (TNPO3, 610032.0001)
1 0 1 1.00 0 0
CUI: C4025565
Disease: Late-onset distal muscle weakness
Late-onset distal muscle weakness
3 0 1 0.33 0 0
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E
4 0 1 0.25 0 0
CUI: C0544966
Disease: Autophagic vaculoes (finding)
Autophagic vaculoes (finding)
6 0 1 0.17 0 0
Abnormality of the intrahepatic bile duct
10 0 1 1.0E-01 0 0
CUI: C0343065
Disease: Dermatographic urticaria
Dermatographic urticaria
12 0 1 8.3E-02 0 0
CUI: C0427064
Disease: Pelvic girdle weakness
Pelvic girdle weakness
16 2 1 6.2E-02 1 0.25
CUI: C1866021
Disease: Increased connective tissue
Increased connective tissue
16 0 1 6.2E-02 0 0
CUI: C4317107
Disease: Abnormality of the thyroid gland
Abnormality of the thyroid gland
21 0 1 4.8E-02 0 0
Centrally nucleated skeletal muscle fibers
25 0 1 4.0E-02 0 0
CUI: C0040261
Disease: Onychomycosis
Onychomycosis
27 0 1 3.7E-02 0 0
CUI: C1853932
Disease: Rimmed vacuoles on biopsy
Rimmed vacuoles on biopsy
28 0 1 3.6E-02 0 0
CUI: C0268307
Disease: Conjugated hyperbilirubinemia
Conjugated hyperbilirubinemia
32 0 1 3.1E-02 0 0
CUI: C0151480
Disease: Anti-nuclear factor positive
Anti-nuclear factor positive
35 0 1 2.9E-02 0 0
CUI: C0560346
Disease: Difficulty running
Difficulty running
38 3 1 2.6E-02 1 0.20
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness
39 4 1 2.6E-02 1 0.17
CUI: C0694563
Disease: Excessive daytime somnolence
Excessive daytime somnolence
39 0 1 2.6E-02 0 0
CUI: C1535950
Disease: Gastrointestinal inflammation
Gastrointestinal inflammation
39 0 1 2.6E-02 0 0
CUI: C0151849
Disease: Alkaline phosphatase raised
Alkaline phosphatase raised
55 0 1 1.8E-02 0 0
CUI: C0086942
Disease: Rous Sarcoma
Rous Sarcoma
60 0 1 1.7E-02 0 0
CUI: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised
67 0 1 1.5E-02 0 0
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation
73 0 1 1.4E-02 0 0
CUI: C0240953
Disease: Winged scapula
Winged scapula
73 0 1 1.4E-02 0 0
CUI: C0020651
Disease: Hypotension, Orthostatic
Hypotension, Orthostatic
82 0 1 1.2E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
103 0 1 9.7E-03 0 0