RYR1, ryanodine receptor 1, 6261

N. diseases: 34; N. variants: 121
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: C4024921
Disease: Lower limb amyotrophy
Lower limb amyotrophy 		phenotype Finding 4 4 0.100 None 0 1
CUI: C0332878
Disease: Congenital contracture
Congenital contracture 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 2 2 0.100 None 0 1
CUI: C0344490
Disease: Sacral agenesis
Sacral agenesis 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 1 1 0.100 None 0 1
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 190 292 0.100 None 0 1
CUI: C0427064
Disease: Pelvic girdle weakness
Pelvic girdle weakness 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 2 2 0.100 None 0 1
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		phenotype Finding 9 12 0.100 None 0 1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 303 505 0.100 None 0 1
CUI: C1836609
Disease: Progressive distal muscle weakness
Progressive distal muscle weakness 		phenotype Finding 4 4 0.100 None 0 1
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		disease Mental Disorders Disease or Syndrome 39 59 0.100 None 0 2
CUI: C1850794
Disease: Proximal amyotrophy
Proximal amyotrophy 		disease Disease or Syndrome 1 1 0.100 None 0 1
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: C0265529
Disease: Plagiocephaly
Plagiocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 10 11 0.100 None 0 1
CUI: C0265213
Disease: Distal arthrogryposis syndrome
Distal arthrogryposis syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 8 9 0.100 None 0 2
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 10 11 0.100 None 0 1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 54 69 0.100 None 0 1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease Eye Diseases Disease or Syndrome 37 49 0.100 None 0 1
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype Respiratory Tract Diseases Pathologic Function 11 15 0.100 None 0 2
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 26 34 0.100 None 0 1
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 6 0.900 strong 0.958 26 6 1990 2020
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		group Nervous System Diseases Disease or Syndrome 11 38 0.200 None 0.960 14 3 2005 2019
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 162 240 0.100 None 1.000 12 1 1973 2013
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 69 1.000 None 1.000 12 69 1993 2019
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 335 611 0.100 None 1.000 12 2 1973 2013
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 336 579 0.100 None 1.000 12 5 1973 2013