RYR1, ryanodine receptor 1, 6261

N. diseases: 29; N. variants: 225
Source: CURATED ×
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: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 101 1.000 None 1.000 32 101 1993 2019
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 2 6 0.900 strong 0.958 10 6 1990 2020
CUI: C1850674
Disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 20 0.800 None 1.000 5 20 2002 2019
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 1 		disease Pathological Conditions, Signs and Symptoms Finding 1 97 0.700 strong 1.000 46 97 1991 2017
CUI: C3645536
Disease: Autosomal Recessive Centronuclear Myopathy
Autosomal Recessive Centronuclear Myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 15 0.500 None 1.000 2 2007 2010
CUI: C1834558
Disease: Myopathy, Centronuclear, Autosomal Dominant
Myopathy, Centronuclear, Autosomal Dominant 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 14 0.500 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 18 46 0.440 None 1.000 1 12 2007 2018
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		group Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 12 1 0.400 strong 0.953 1 1993 2019
CUI: C2674259
Disease: NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER (disorder)
NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER (disorder) 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 2 0.400 limited 0 2
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 13 12 0.390 None 1.000 1 2007 2019
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 16 0.390 moderate 1.000 1 1993 2013
CUI: C1840365
Disease: King Denborough syndrome
King Denborough syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 0.330 None 1.000 2 2008 2018
CUI: C0752282
Disease: Congenital Structural Myopathy
Congenital Structural Myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 13 0.310 None 1.000 1 2007 2018
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 6 12 0.310 None 1.000 1 2014 2016
CUI: C3661489
Disease: Autosomal Dominant Myotubular Myopathy
Autosomal Dominant Myotubular Myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 13 0.300 None 1.000 1 2007 2007
CUI: C1861753
Disease: Multiminicore Disease, Moderate, with Hand Involvement
Multiminicore Disease, Moderate, with Hand Involvement 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2002 2002
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 13 13 0.300 None 1.000 1 2007 2007
CUI: C4706390
Disease: Congenital myopathy with myasthenic-like onset
Congenital myopathy with myasthenic-like onset 		disease Disease or Syndrome 1 0.300 None 1.000 1 2014 2014
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 128 119 0.300 None 1.000 1 2011 2011
CUI: C1306837
Disease: Papillary Renal Cell Carcinoma
Papillary Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 128 0.300 None 1.000 1 2011 2011
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 4 11 0.300 None 1.000 1 2016 2016
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 148 19 0.300 None 1.000 1 2011 2011
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 13 140 0.300 None 1.000 1 2007 2007
CUI: C0410204
Disease: Myopathy, Centronuclear, Autosomal Recessive
Myopathy, Centronuclear, Autosomal Recessive 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome; Congenital Abnormality 4 9 0.300 None 1.000 1 2010 2010
CUI: C0410207
Disease: Tubular Aggregate Myopathy
Tubular Aggregate Myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 14 4 0.300 None 1.000 1 2007 2007