DNM2, dynamin 2, 1785

N. diseases: 7; N. variants: 17
Source: CLINVAR ×
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 4 12 0.900 limited 0.982 0 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 12 0.710 None 1.000 32 12 2005 2017
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 6 0.710 None 1.000 6 6 2005 2016
CUI: C3809272
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 5
LETHAL CONGENITAL CONTRACTURE SYNDROME 5 		disease Disease or Syndrome 1 1 0.710 strong 1.000 0 1 2005 2018
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 24 52 0.200 None 0.964 1 1 2005 2019
CUI: C0026848
Disease: Myopathy
Myopathy 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 37 63 0.200 None 1.000 0 1 2007 2019
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		disease Disease or Syndrome 14 17 0.100 None 0 1