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: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.020 None 0.500 2 2009 2010
CUI: C0009917
Disease: Contracture
Contracture 		disease Musculoskeletal Diseases Anatomical Abnormality 111 12 0.010 None 1.000 1 2011 2011
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: C0579144
Disease: Cavovarus deformity of foot
Cavovarus deformity of foot 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Anatomical Abnormality 6 2 0.010 None 1.000 1 2012 2012
CUI: C4025785
Disease: Abnormality of the foot musculature
Abnormality of the foot musculature 		phenotype Anatomical Abnormality 8 0.100 None 0
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
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		group Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 63 10 0.020 None 1.000 2 2017 2019
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 84 4 0.010 None 1.000 1 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
CUI: C0728829
Disease: Congenital pes cavus
Congenital pes cavus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Congenital Abnormality 19 15 0.010 None 1.000 1 2012 2012
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.100 None 0
CUI: C0332878
Disease: Congenital contracture
Congenital contracture 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 31 3 0.100 None 0
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
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
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: 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: C1834558
Disease: Myopathy, Centronuclear, Autosomal Dominant
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: 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
CUI: C0442874
Disease: Neuropathy
Neuropathy 		group Nervous System Diseases Disease or Syndrome 484 110 0.100 None 0.933 15 2 2007 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: 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: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		group Nervous System Diseases Disease or Syndrome 171 50 0.070 None 1.000 7 2010 2019
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		group Nervous System Diseases Disease or Syndrome 549 69 0.050 None 1.000 5 2010 2013
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		group Nervous System Diseases Disease or Syndrome 351 81 0.040 None 1.000 4 2010 2013
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.030 None 1.000 3 2008 2014
CUI: C3809272
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 5
LETHAL CONGENITAL CONTRACTURE SYNDROME 5 		disease Disease or Syndrome 1 1 0.710 strong 1.000 3 1 2005 2018