TNPO3, transportin 3, 23534

N. diseases: 66; N. variants: 25
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C4025565
Disease: Late-onset distal muscle weakness
Late-onset distal muscle weakness
phenotype Finding 3 0.100 None 0
CUI: C0427064
Disease: Pelvic girdle weakness
Pelvic girdle weakness
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 16 2 0.100 None 0 1
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness
phenotype Finding 39 4 0.100 None 0 1
CUI: C0343065
Disease: Dermatographic urticaria
Dermatographic urticaria
disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 12 1 0.100 None 0
CUI: C0268307
Disease: Conjugated hyperbilirubinemia
Conjugated hyperbilirubinemia
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 32 1 0.100 None 0
CUI: C0240953
Disease: Winged scapula
Winged scapula
phenotype Finding 73 3 0.100 None 0
CUI: C0239981
Disease: Hypoalbuminemia
Hypoalbuminemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 107 9 0.100 None 0
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1179 64 0.100 None 0
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation
phenotype Skin and Connective Tissue Diseases Pathologic Function 73 11 0.100 None 0
CUI: C0151849
Disease: Alkaline phosphatase raised
Alkaline phosphatase raised
phenotype Nutritional and Metabolic Diseases; Musculoskeletal Diseases Finding 55 0.100 None 0
CUI: C0151480
Disease: Anti-nuclear factor positive
Anti-nuclear factor positive
phenotype Skin and Connective Tissue Diseases Laboratory or Test Result 35 3 0.100 None 0
CUI: C0544966
Disease: Autophagic vaculoes (finding)
Autophagic vaculoes (finding)
phenotype Finding 6 0.100 None 0
CUI: C0694563
Disease: Excessive daytime somnolence
Excessive daytime somnolence
phenotype Disease or Syndrome 39 0.100 None 0
CUI: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised
phenotype Finding 67 6 0.100 None 0
Abnormality of the intrahepatic bile duct
disease Anatomical Abnormality 10 2 0.100 None 0
Abnormality of metabolism/homeostasis
phenotype Finding 171 5 0.100 None 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities
phenotype Musculoskeletal Diseases; Nervous System Diseases Pathologic Function 115 16 0.100 None 0 1
Caused by mutation in the transportin 3 gene (TNPO3, 610032.0001)
phenotype Finding 1 1 0.100 None 0 1
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.100 None 0
CUI: C1866021
Disease: Increased connective tissue
Increased connective tissue
phenotype Finding 16 0.100 None 0
CUI: C1853932
Disease: Rimmed vacuoles on biopsy
Rimmed vacuoles on biopsy
phenotype Finding 28 2 0.100 None 0
Centrally nucleated skeletal muscle fibers
phenotype Finding 25 0.100 None 0
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 919 110 0.100 None 0
CUI: C1535950
Disease: Gastrointestinal inflammation
Gastrointestinal inflammation
disease Disease or Syndrome 39 0.100 None 0
CUI: C0085605
Disease: Liver Failure
Liver Failure
disease Digestive System Diseases Disease or Syndrome 293 20 0.100 None 0