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.
CUI: C4746851
Disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 		disease Disease or Syndrome 1 3 0.700 None 1.000 7 3 2010 2016
CUI: C4024615
Disease: Adipose tissue loss
Adipose tissue loss 		phenotype Finding 3 0.100 None 0
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: C4023703
Disease: Abnormality of the Leydig cells
Abnormality of the Leydig cells 		disease Anatomical Abnormality 4 0.100 None 0
CUI: C0239598
Disease: Swelling of finger
Swelling of finger 		phenotype Finding 5 0.100 None 0
CUI: C0231791
Disease: Toeing-in
Toeing-in 		phenotype Sign or Symptom 6 0.010 None 1.000 1 2010 2010
CUI: C3276815
Disease: Stiff skin
Stiff skin 		phenotype Finding 6 0.100 None 0
CUI: C0014583
Disease: Episcleritis
Episcleritis 		disease Eye Diseases Disease or Syndrome 9 0.100 None 0
CUI: C1406835
Disease: Flexion contracture of toe
Flexion contracture of toe 		phenotype Finding 10 0.100 None 0
CUI: C1142272
Disease: Neutrophilic dermatosis
Neutrophilic dermatosis 		disease Disease or Syndrome 12 0.010 None 1.000 1 2012 2012
CUI: C0010635
Disease: Cystadenoma, Mucinous
Cystadenoma, Mucinous 		disease Neoplasms Neoplastic Process 15 0.010 None 1.000 1 2018 2018
CUI: C1855852
Disease: Abnormally large globe
Abnormally large globe 		phenotype Finding 16 1 0.100 None 0
CUI: C0877635
Disease: Cytomegalovirus viremia
Cytomegalovirus viremia 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 17 2 0.010 None 1.000 1 2016 2016
CUI: C1389280
Disease: Basal ganglia calcification
Basal ganglia calcification 		phenotype Pathologic Function 22 3 0.100 None 0
CUI: C0151669
Disease: Increased antibody level in blood
Increased antibody level in blood 		phenotype Finding 27 0.100 None 0
CUI: C3887489
Disease: Clubbing of toes
Clubbing of toes 		disease Anatomical Abnormality 30 0.100 None 0
CUI: C0221292
Disease: Basophilic leukemia
Basophilic leukemia 		disease Neoplasms Neoplastic Process 32 3 0.010 None 1.000 1 1996 1996
CUI: C1858091
Disease: Long fingers
Long fingers 		phenotype Finding 32 6 0.100 None 0
CUI: C0009918
Disease: Contracture of joint
Contracture of joint 		disease Musculoskeletal Diseases Anatomical Abnormality 36 0.010 None 1.000 1 2012 2012
CUI: C0151632
Disease: ESR raised
ESR raised 		phenotype Finding 36 0.100 None 0
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: C0085615
Disease: Right bundle branch block
Right bundle branch block 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 39 0.100 None 0
CUI: C0035021
Disease: Relapsing Fever
Relapsing Fever 		disease Infections Disease or Syndrome 48 2 0.100 None 0
CUI: C3714772
Disease: Recurrent fevers
Recurrent fevers 		phenotype Sign or Symptom 48 4 0.100 None 0
CUI: C0262361
Disease: Growth abnormality
Growth abnormality 		phenotype Finding 49 5 0.100 None 0