PRG4, proteoglycan 4, 10216

N. diseases: 73; N. variants: 1
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.
CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 5 1 0.800 strong 1.000 11 1 1999 2017
CUI: C0031046
Disease: Pericarditis
Pericarditis
disease Cardiovascular Diseases Disease or Syndrome 51 6 0.300 None 1.000 1 1999 1999
CUI: C1167732
Disease: Pleuropericarditis
Pleuropericarditis
disease Cardiovascular Diseases Disease or Syndrome 1 0.300 None 1.000 1 1999 1999
CUI: C0009917
Disease: Contracture
Contracture
disease Musculoskeletal Diseases Anatomical Abnormality 111 12 0.300 None 1.000 1 1999 1999
CUI: C0020507
Disease: Hyperplasia
Hyperplasia
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 131 0.300 None 1.000 1 1999 1999
CUI: C0003864
Disease: Arthritis
Arthritis
disease Musculoskeletal Diseases Disease or Syndrome 1072 69 0.130 None 1.000 3 2007 2017
CUI: C0022408
Disease: Arthropathy
Arthropathy
group Musculoskeletal Diseases Disease or Syndrome 187 10 0.120 None 0.500 2 2017 2019
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.100 None 0.955 22 2013 2019
CUI: C4023134
Disease: Flattened metacarpal heads
Flattened metacarpal heads
disease Anatomical Abnormality 1 0.100 None 0
Congenital finger flexion contractures
disease Congenital Abnormality 5 1 0.100 None 0
CUI: C0031048
Disease: Pericarditis, Constrictive
Pericarditis, Constrictive
disease Cardiovascular Diseases Disease or Syndrome 8 1 0.100 None 0
CUI: C0409345
Disease: Flexion contracture - wrist
Flexion contracture - wrist
disease Acquired Abnormality 15 4 0.100 None 0
Hip joint varus deformity - observation
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Finding 49 2 0.100 None 0
CUI: C4025238
Disease: Generalized morning stiffness
Generalized morning stiffness
phenotype Finding 2 1 0.100 None 0
CUI: C4025240
Disease: Flattened metatarsal heads
Flattened metatarsal heads
disease Anatomical Abnormality 2 0.100 None 0
CUI: C0410574
Disease: Synovial Hypertrophy
Synovial Hypertrophy
disease Musculoskeletal Diseases Disease or Syndrome 12 0.100 None 0
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly
disease Acquired Abnormality 120 1 0.030 None 1.000 3 2013 2014
CUI: C0023418
Disease: leukemia
leukemia
disease Neoplasms Neoplastic Process 2111 144 0.030 None 1.000 3 1999 2004
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 123 10 0.030 None 1.000 3 2013 2014
CUI: C0545074
Disease: Myxoid/Round Cell Liposarcoma
Myxoid/Round Cell Liposarcoma
disease Neoplasms Neoplastic Process 61 0.020 None 1.000 2 2004 2017
Treatment related acute myeloid leukaemia
disease Neoplastic Process 65 4 0.020 None 1.000 2 1999 2001
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
disease Neoplasms Neoplastic Process 1740 140 0.020 None 1.000 2 1999 2004
CUI: C0206634
Disease: Liposarcoma, Myxoid
Liposarcoma, Myxoid
disease Neoplasms Neoplastic Process 79 4 0.020 None 1.000 2 2004 2017
CUI: C0796070
Disease: MICROPHTHALMIA, SYNDROMIC 7
MICROPHTHALMIA, SYNDROMIC 7
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality 46 7 0.020 None 1.000 2 2004 2017
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.020 None 0.500 2 2018 2019