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: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		disease Disease or Syndrome 60 4 0.310 strong 1.000 2 2011 2012
CUI: C0231791
Disease: Toeing-in
Toeing-in 		phenotype Sign or Symptom 6 0.010 None 1.000 1 2010 2010
CUI: C0375023
Disease: Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site 		disease Disease or Syndrome 467 14 0.010 None 1.000 1 2001 2001
CUI: C1142272
Disease: Neutrophilic dermatosis
Neutrophilic dermatosis 		disease Disease or Syndrome 12 0.010 None 1.000 1 2012 2012
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2016 2016
CUI: C3267073
Disease: Autoinflammatory disease
Autoinflammatory disease 		disease Disease or Syndrome 81 10 0.010 None 1.000 1 2012 2012
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.010 None 1.000 1 2003 2003
CUI: C0151632
Disease: ESR raised
ESR raised 		phenotype Finding 36 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: C0152421
Disease: Macrotia
Macrotia 		disease Congenital Abnormality 188 18 0.100 None 0
CUI: C0239598
Disease: Swelling of finger
Swelling of finger 		phenotype Finding 5 0.100 None 0
CUI: C0262361
Disease: Growth abnormality
Growth abnormality 		phenotype Finding 49 5 0.100 None 0
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		disease Acquired Abnormality 73 14 0.100 None 0
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		phenotype Finding 168 7 0.100 None 0
CUI: C0426415
Disease: Large nose
Large nose 		phenotype Finding 70 7 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype Pathologic Function 306 12 0.100 None 0
CUI: C1389280
Disease: Basal ganglia calcification
Basal ganglia calcification 		phenotype Pathologic Function 22 3 0.100 None 0
CUI: C1406835
Disease: Flexion contracture of toe
Flexion contracture of toe 		phenotype Finding 10 0.100 None 0
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		phenotype Finding 145 10 0.100 None 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype Finding 212 9 0.100 None 0
CUI: C1855852
Disease: Abnormally large globe
Abnormally large globe 		phenotype Finding 16 1 0.100 None 0
CUI: C1858091
Disease: Long fingers
Long fingers 		phenotype Finding 32 6 0.100 None 0
CUI: C1963077
Disease: Bone Pain, CTCAE 3.0
Bone Pain, CTCAE 3.0 		phenotype Finding 67 0.100 None 0
CUI: C3276815
Disease: Stiff skin
Stiff skin 		phenotype Finding 6 0.100 None 0