DNM2, dynamin 2, 1785

N. diseases: 178; N. variants: 30
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: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 40 13 0.900 limited 0.982 56 9 2005 2019
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 13 0.710 None 1.000 38 13 2005 2017
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 13 13 0.710 None 1.000 18 11 2005 2016
LETHAL CONGENITAL CONTRACTURE SYNDROME 5
disease Disease or Syndrome 1 1 0.710 strong 1.000 3 1 2005 2018
Myopathy, Centronuclear, Autosomal Dominant
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 16 1 0.700 definitive 0.958 24 1 2005 2019
CUI: C0752282
Disease: Congenital Structural Myopathy
Congenital Structural Myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 18 1 0.370 None 1.000 8 2005 2018
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 29 140 0.350 None 1.000 6 2007 2018
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 644 23 0.320 None 1.000 2 2016 2016
Autosomal Recessive Centronuclear Myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 16 0.310 None 1.000 2 2007 2007
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion
disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 33 49 0.300 None 1.000 1 2007 2007
Autosomal Dominant Myotubular Myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 13 0.300 None 1.000 1 2007 2007
CUI: C0410207
Disease: Tubular Aggregate Myopathy
Tubular Aggregate Myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 67 5 0.300 None 1.000 1 2007 2007
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 208 136 0.200 None 0.964 28 3 2005 2019
CUI: C0026848
Disease: Myopathy
Myopathy
group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.200 None 1.000 11 1 2007 2019
CUI: C0022679
Disease: Cystic kidney
Cystic kidney
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 89 1 0.200 None 0
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.110 None 1.000 2 1 2014 2020
CUI: C0039273
Disease: Talipes cavus
Talipes cavus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 213 2 0.110 None 1.000 1 2012 2012
CUI: C0033377
Disease: Ptosis
Ptosis
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 607 12 0.110 None 1.000 1 2011 2011
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease Eye Diseases Disease or Syndrome 595 57 0.110 None 1.000 1 2011 2011
CUI: C0442874
Disease: Neuropathy
Neuropathy
group Nervous System Diseases Disease or Syndrome 484 110 0.100 None 0.933 15 2 2007 2019
Low density lipoprotein cholesterol measurement
phenotype Laboratory Procedure 483 1142 0.100 None 1.000 2 2 2011 2018
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 2 2 2015 2019
Red cell distribution width determination
phenotype Laboratory Procedure 593 988 0.100 None 1.000 1 1 2019 2019
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype Laboratory Procedure 486 1243 0.100 None 1.000 1 1 2018 2018
RDW - Red blood cell distribution width result
phenotype Laboratory or Test Result 593 988 0.100 None 1.000 1 1 2019 2019