PSMB8, proteasome 20S subunit beta 8, 5696

N. diseases: 165; N. variants: 9
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.
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
disease Disease or Syndrome 1 3 0.700 None 1.000 7 3 2010 2016
CUI: C1850568
Disease: Nakajo syndrome
Nakajo syndrome
disease Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders Disease or Syndrome 4 0.570 None 1.000 7 2010 2018
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease Disease or Syndrome 60 4 0.310 strong 1.000 2 2011 2012
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 870 0.300 None 1.000 1 2014 2014
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 226 28 0.140 None 1.000 4 2010 2012
Diabetes Mellitus, Insulin-Dependent
disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1675 954 0.130 None 1.000 4 3 1995 2011
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.110 None 1.000 3 4 1998 2009
CUI: C0030326
Disease: Panniculitis
Panniculitis
disease Skin and Connective Tissue Diseases Disease or Syndrome 37 2 0.110 None 1.000 1 2012 2012
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 456 130 0.100 None 1.000 1 1 2014 2014
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1180 140 0.100 None 1.000 1 1 2011 2011
CUI: C0239598
Disease: Swelling of finger
Swelling of finger
phenotype Finding 5 0.100 None 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 340 56 0.100 None 0
CUI: C0262361
Disease: Growth abnormality
Growth abnormality
phenotype Finding 49 5 0.100 None 0
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 340 169 0.100 None 0
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion
phenotype Finding 145 10 0.100 None 0
CUI: C0020492
Disease: Hyperostosis
Hyperostosis
disease Musculoskeletal Diseases Disease or Syndrome 50 3 0.100 None 0
CUI: C0020458
Disease: Hyperhidrosis disorder
Hyperhidrosis disorder
phenotype Skin and Connective Tissue Diseases Finding 114 7 0.100 None 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 0.100 None 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype Pathological Conditions, Signs and Symptoms Finding 345 19 0.100 None 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase
phenotype Finding 212 9 0.100 None 0
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.100 None 0
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 267 11 0.100 None 0
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 155 10 0.100 None 0
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation
phenotype Skin and Connective Tissue Diseases Pathologic Function 73 11 0.100 None 0
CUI: C0151632
Disease: ESR raised
ESR raised
phenotype Finding 36 0.100 None 0