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 2 0.600 3 2 2001 2013
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
disease Digestive System Diseases Disease or Syndrome 328 108 0.430 1.000 4 2 2010 2015
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
disease Immune System Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1112 674 0.120 1.000 7 8 2008 2017
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
disease Skin and Connective Tissue Diseases Disease or Syndrome 561 149 0.110 1.000 3 5 2014 2018
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome
disease Eye Diseases; Immune System Diseases; Musculoskeletal Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases Disease or Syndrome 259 29 0.110 1.000 2 1 2014 2015
CUI: C0023892
Disease: Biliary cirrhosis
Biliary cirrhosis
disease Digestive System Diseases Disease or Syndrome 154 560 0.100 3 7 2011 2013
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
disease Immune System Diseases; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1832 1878 0.100 1 3 2017 2017
Caused by mutation in the transportin 3 gene (TNPO3, 610032.0001)
phenotype Finding 1 1 0.100 1 1 2015 2015
Increased incidence of hepatocellular carcinoma
phenotype Finding 31 0.100 0
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation
phenotype Skin and Connective Tissue Diseases Pathologic Function 50 3 0.100 0
CUI: C0221436
Disease: Melanoderma (disorder)
Melanoderma (disorder)
disease Disease or Syndrome 44 0.100 0
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
disease Digestive System Diseases Disease or Syndrome 544 31 0.100 0
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias
group Nutritional and Metabolic Diseases Disease or Syndrome 215 48 0.100 0
CUI: C0268307
Disease: Conjugated hyperbilirubinemia
Conjugated hyperbilirubinemia
disease Disease or Syndrome 25 0.100 0
CUI: C4317107
Disease: Abnormality of the thyroid gland
Abnormality of the thyroid gland
phenotype Finding 13 0.100 0
CUI: C0343065
Disease: Symptomatic dermographism
Symptomatic dermographism
phenotype Disease or Syndrome 9 1 0.100 0
CUI: C4025650
Disease: Abnormality of lipid metabolism
Abnormality of lipid metabolism
phenotype Finding 13 0.100 0
CUI: C1839972
Disease: Increased IgM level
Increased IgM level
phenotype Finding 17 0.100 0
Abnormality of the intrahepatic bile duct
phenotype Anatomical Abnormality 10 2 0.100 0
Increased hepatocellular carcinoma risk
phenotype Finding 31 0.100 0
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 3592 419 0.100 0
CUI: C0151849
Disease: Alkaline phosphatase raised
Alkaline phosphatase raised
phenotype Finding 43 0.100 0
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
disease Digestive System Diseases Disease or Syndrome 682 71 0.100 0
CUI: C0022346
Disease: Icterus
Icterus
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 153 7 0.100 0
CUI: C0033774
Disease: Pruritus
Pruritus
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 136 5 0.100 0