TPM2, tropomyosin 2, 7169

N. diseases: 228; N. variants: 14
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: C0220662
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 1
ARTHROGRYPOSIS, DISTAL, TYPE 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome; Congenital Abnormality 9 10 0.730 None 1.000 17 7 1997 2018
CUI: C1836447
Disease: Nemaline myopathy 4
Nemaline myopathy 4
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 9 0.710 strong 1.000 9 9 2002 2019
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion
disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 33 49 0.610 None 1.000 2 1 2012 2014
CUI: C1834523
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B
ARTHROGRYPOSIS, DISTAL, TYPE 2B
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 25 6 0.550 strong 1.000 8 2007 2018
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 198 33 0.440 strong 1.000 5 2005 2017
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 47 42 0.400 strong 0.941 17 2 2002 2018
CUI: C0265213
Disease: Distal arthrogryposis syndrome
Distal arthrogryposis syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 22 15 0.400 strong 1.000 16 1 2006 2020
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 63 10 0.390 strong 1.000 10 2 2007 2017
CUI: C3710589
Disease: Cap Myopathy
Cap Myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome; Congenital Abnormality 9 4 0.390 None 1.000 9 1 2007 2018
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 9 11 0.310 strong 1.000 2 2009 2013
CUI: C0546125
Disease: Nemaline Myopathy, Childhood Onset
Nemaline Myopathy, Childhood Onset
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 2 2013 2013
CUI: C1852085
Disease: Digitotalar Dysmorphism
Digitotalar Dysmorphism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 6 0.300 None 1.000 1 2013 2013
Squamous cell carcinoma of esophagus
disease Digestive System Diseases; Neoplasms Neoplastic Process 2053 329 0.300 None 1.000 1 2011 2011
Autosomal Recessive Centronuclear Myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 16 0.300 None 0
Autosomal Dominant Myotubular Myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 13 0.300 None 0
CUI: C0752282
Disease: Congenital Structural Myopathy
Congenital Structural Myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 18 1 0.300 None 0
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 40 13 0.300 None 0
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 13 13 0.300 None 0
Myopathy, Centronuclear, Autosomal Dominant
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 16 1 0.300 None 0
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 29 140 0.300 None 0
CUI: C0410207
Disease: Tubular Aggregate Myopathy
Tubular Aggregate Myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 67 5 0.300 None 0
CUI: C2750413
Disease: Cap Myopathy, Tpm2-Related
Cap Myopathy, Tpm2-Related
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 0
CUI: C0026848
Disease: Myopathy
Myopathy
group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.170 None 0.857 7 1 2001 2019
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 285 44 0.120 None 1.000 2 2009 2016
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 123 10 0.110 None 1.000 1 2020 2020