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: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 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
Caused by mutation in the transportin 3 gene (TNPO3, 610032.0001)
phenotype Finding 1 1 0.100 None 0 1
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities
phenotype Musculoskeletal Diseases; Nervous System Diseases Pathologic Function 115 16 0.100 None 0 1
Abnormality of metabolism/homeostasis
phenotype Finding 171 5 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: C1866021
Disease: Increased connective tissue
Increased connective tissue
phenotype Finding 16 0.100 None 0
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation
phenotype Skin and Connective Tissue Diseases Pathologic Function 73 11 0.100 None 0
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1098 182 0.100 None 0
CUI: C0022346
Disease: Icterus
Icterus
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 241 17 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
CUI: C0020541
Disease: Portal Hypertension
Portal Hypertension
disease Digestive System Diseases Disease or Syndrome 167 9 0.100 None 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
phenotype Digestive System Diseases Finding 103 6 0.100 None 0
CUI: C0019158
Disease: Hepatitis
Hepatitis
group Digestive System Diseases Disease or Syndrome 656 42 0.100 None 0
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 760 67 0.100 None 0
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 527 263 0.100 None 0
CUI: C0003962
Disease: Ascites
Ascites
phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 198 7 0.100 None 0
CUI: C0030232
Disease: Pallor
Pallor
phenotype Pathological Conditions, Signs and Symptoms Finding 124 4 0.100 None 0
CUI: C0033774
Disease: Pruritus
Pruritus
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 107 2 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: 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: C0085605
Disease: Liver Failure
Liver Failure
disease Digestive System Diseases Disease or Syndrome 293 20 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