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.
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 3 0.700 strong 1.000 5 3 2013 2019
Caused by mutation in the transportin 3 gene (TNPO3, 610032.0001)
phenotype Finding 1 1 0.100 None 0 1
CUI: C4025565
Disease: Late-onset distal muscle weakness
Late-onset distal muscle weakness
phenotype Finding 3 0.100 None 0
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2014 2014
CUI: C0544966
Disease: Autophagic vaculoes (finding)
Autophagic vaculoes (finding)
phenotype Finding 6 0.100 None 0
Abnormality of the intrahepatic bile duct
disease Anatomical Abnormality 10 2 0.100 None 0
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: 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: C1866021
Disease: Increased connective tissue
Increased connective tissue
phenotype Finding 16 0.100 None 0
CUI: C4317107
Disease: Abnormality of the thyroid gland
Abnormality of the thyroid gland
phenotype Finding 21 2 0.100 None 0
Centrally nucleated skeletal muscle fibers
phenotype Finding 25 0.100 None 0
CUI: C0040261
Disease: Onychomycosis
Onychomycosis
disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 27 2 0.100 None 0
CUI: C1853932
Disease: Rimmed vacuoles on biopsy
Rimmed vacuoles on biopsy
phenotype Finding 28 2 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: 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: C0560346
Disease: Difficulty running
Difficulty running
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 38 3 0.100 None 0 1
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness
phenotype Finding 39 4 0.100 None 0 1
CUI: C0694563
Disease: Excessive daytime somnolence
Excessive daytime somnolence
phenotype Disease or Syndrome 39 0.100 None 0
CUI: C1535950
Disease: Gastrointestinal inflammation
Gastrointestinal inflammation
disease Disease or Syndrome 39 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: C0086942
Disease: Rous Sarcoma
Rous Sarcoma
disease Neoplasms; Infections; Animal Diseases Neoplastic Process; Experimental Model of Disease 60 0.010 None 1.000 1 2010 2010
CUI: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised
phenotype Finding 67 6 0.100 None 0
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation
phenotype Skin and Connective Tissue Diseases Pathologic Function 73 11 0.100 None 0
CUI: C0240953
Disease: Winged scapula
Winged scapula
phenotype Finding 73 3 0.100 None 0
CUI: C0020651
Disease: Hypotension, Orthostatic
Hypotension, Orthostatic
phenotype Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 82 21 0.100 None 0