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: C1260922
Disease: Abnormal breathing
Abnormal breathing 		phenotype Respiratory Tract Diseases Finding 5 2 0.100 None 0
CUI: C1836835
Disease: Hyporeflexia of upper limbs
Hyporeflexia of upper limbs 		phenotype Finding 5 1 0.100 None 0
CUI: C3807306
Disease: Acute rhabdomyolysis
Acute rhabdomyolysis 		phenotype Musculoskeletal Diseases Finding 5 2 0.100 None 0
CUI: C0340485
Disease: Familial ventricular tachycardia
Familial ventricular tachycardia 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 6 0.010 None 1.000 1 2001 2001
CUI: C0393761
Disease: Middle insomnia
Middle insomnia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 6 1 0.010 None 1.000 1 2018 2018
CUI: C0410204
Disease: Myopathy, Centronuclear, Autosomal Recessive
Myopathy, Centronuclear, Autosomal Recessive 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome; Congenital Abnormality 6 9 0.300 None 1.000 1 2010 2010
CUI: C0795693
Disease: Skeletal malformation
Skeletal malformation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Anatomical Abnormality 6 0.010 None 1.000 1 2004 2004
CUI: C1850625
Disease: Native American myopathy
Native American myopathy 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 6 3 0.010 None 1.000 1 2017 2017
CUI: C4021526
Disease: Exercise-induced rhabdomyolysis
Exercise-induced rhabdomyolysis 		phenotype Musculoskeletal Diseases Finding 6 1 0.100 None 0
CUI: C4025571
Disease: Type 1 fibers relatively smaller than type 2 fibers
Type 1 fibers relatively smaller than type 2 fibers 		phenotype Finding 6 0.100 None 0
CUI: C4024700
Disease: Elevated creatine kinase after exercise
Elevated creatine kinase after exercise 		phenotype Finding 7 0.100 None 0
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 8 13 0.310 None 1.000 2 2014 2016
CUI: C0264162
Disease: Camptocormia
Camptocormia 		disease Musculoskeletal Diseases; Nervous System Diseases Acquired Abnormality 8 2 0.010 None 1.000 1 2013 2013
CUI: C0265509
Disease: Congenital anomaly of skeletal bone
Congenital anomaly of skeletal bone 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality 8 0.010 None 1.000 1 2004 2004
CUI: C0231531
Disease: Muscle fibrillation
Muscle fibrillation 		phenotype Nervous System Diseases Sign or Symptom 8 0.100 None 0
CUI: C4024608
Disease: Necrotizing myopathy
Necrotizing myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 8 0.100 None 0
CUI: C4025785
Disease: Abnormality of the foot musculature
Abnormality of the foot musculature 		phenotype Anatomical Abnormality 8 0.100 None 0
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 9 11 0.300 None 1.000 1 2016 2016
CUI: C0743841
Disease: Disorder characterized by fever
Disorder characterized by fever 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 9 1 0.010 None 1.000 1 2011 2011
CUI: C3808250
Disease: Reduced forced vital capacity
Reduced forced vital capacity 		phenotype Finding 10 0.100 None 0
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 11 20 0.800 None 1.000 27 20 2002 2019
CUI: C0343239
Disease: Benign congenital hypotonia
Benign congenital hypotonia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 11 0.020 None 1.000 2 2009 2019
CUI: C0020440
Disease: Hypercapnia
Hypercapnia 		phenotype Pathological Conditions, Signs and Symptoms Finding 11 0.100 None 0
CUI: C1864716
Disease: Intrinsic hand muscle atrophy
Intrinsic hand muscle atrophy 		phenotype Finding 11 0.100 None 0
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		phenotype Finding 12 15 0.100 None 1.000 1 2 2020 2020