RYR1, ryanodine receptor 1, 6261

N. diseases: 320; N. variants: 248
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: 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 47 97 1991 2017
CUI: C1840365
Disease: King Denborough syndrome
King Denborough syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 0.330 None 1.000 4 2008 2018
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: 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: C4749502
Disease: Benign Samaritan congenital myopathy
Benign Samaritan congenital myopathy 		disease Disease or Syndrome 1 0.300 None 1.000 1 2012 2012
CUI: C2083352
Disease: Rectus femoris muscle atrophy
Rectus femoris muscle atrophy 		disease Disease or Syndrome 1 0.100 None 0
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: C4016368
Disease: CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE
CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE 		disease Finding 1 3 0.100 None 0 3
CUI: C4476998
Disease: Frog-leg posture
Frog-leg posture 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 1 0.100 None 0
CUI: C0263992
Disease: Exertional rhabdomyolysis (disorder)
Exertional rhabdomyolysis (disorder) 		disease Musculoskeletal Diseases Disease or Syndrome 2 1 0.040 None 1.000 4 1 2009 2016
CUI: C0155338
Disease: Total ophthalmoplegia
Total ophthalmoplegia 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2013 2013
CUI: C4022568
Disease: Central core regions in muscle fibers
Central core regions in muscle fibers 		phenotype Finding 2 0.100 None 0
CUI: C4025568
Disease: Type 1 and type 2 muscle fiber minicore regions
Type 1 and type 2 muscle fiber minicore regions 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Finding 2 0.100 None 0
CUI: C4073214
Disease: Abnormality of masseter muscle
Abnormality of masseter muscle 		phenotype Anatomical Abnormality 2 0.100 None 0
CUI: C4531203
Disease: Cardiomyocyte mitochondrial proliferation
Cardiomyocyte mitochondrial proliferation 		phenotype Finding 2 0.100 None 0
CUI: C3267178
Disease: Axial myopathy
Axial myopathy 		disease Disease or Syndrome 3 0.020 None 1.000 2 2013 2018
CUI: C0333759
Disease: Muscle fiber hypertrophy
Muscle fiber hypertrophy 		phenotype Finding 3 1 0.100 None 0
CUI: C0742747
Disease: High-output congestive heart failure
High-output congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 3 0.100 None 0
CUI: C4023067
Disease: Sternocleidomastoid amyotrophy
Sternocleidomastoid amyotrophy 		disease Disease or Syndrome 3 0.100 None 0
CUI: C4023104
Disease: Intermittent painful muscle spasms
Intermittent painful muscle spasms 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 3 1 0.100 None 0
CUI: C4023375
Disease: Tibialis atrophy
Tibialis atrophy 		phenotype Finding 3 1 0.100 None 0
CUI: C4531255
Disease: Internally nucleated skeletal muscle fibers
Internally nucleated skeletal muscle fibers 		phenotype Anatomical Abnormality 3 0.100 None 0
CUI: C1855126
Disease: 3-Methylglutaconic Aciduria Type IV
3-Methylglutaconic Aciduria Type IV 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 4 0.010 None 1.000 1 2009 2009
CUI: C1840372
Disease: Mixed respiratory and metabolic acidosis
Mixed respiratory and metabolic acidosis 		phenotype Nutritional and Metabolic Diseases Finding 4 3 0.100 None 0
CUI: C0750194
Disease: Non-sustained ventricular tachycardia
Non-sustained ventricular tachycardia 		disease Disease or Syndrome 5 0.010 None 1.000 1 2019 2019