* We recommend a score >= 0.08 for meaningful Gene-Disease associations

GeneID	Gene_Symbol	DisGeNet_diseaseID	Disease_name	DisGeNet score	DisGeNet_sourceDB
6261	RYR1	C0024591	Malignant hyperpyrexia due to anesthesia	0.798598893346645	BEFREE;CTD_human;GAD;HPO;LHGDN;MGD;ORPHANET;UNIPROT
6261	RYR1	C0751951	Central Core Myopathy (disorder)	0.725713372787737	BEFREE;CTD_human;GAD;LHGDN;MGD;ORPHANET;UNIPROT
6261	RYR1	C1850674	MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)	0.684670355331623	BEFREE;CTD_human;MGD;ORPHANET;UNIPROT
6261	RYR1	C0026848	Myopathy	0.226041622990976	BEFREE;HPO;LHGDN
6261	RYR1	C0009917	Contracture	0.207952721364863	BEFREE;HPO;LHGDN
6261	RYR1	C0035410	Rhabdomyolysis	0.202732912464814	HPO;LHGDN
6261	RYR1	C0162292	External Ophthalmoplegia	0.200824180352639	BEFREE;HPO
6261	RYR1	C1840365	King Denborough syndrome	0.200824180352639	BEFREE;ORPHANET
6261	RYR1	C0427055	Facial Paresis	0.200274726784213	BEFREE;HPO
6261	RYR1	C0700208	Acquired scoliosis	0.200274726784213	BEFREE;HPO
6261	RYR1	C0746674	Generalized muscle weakness	0.200274726784213	BEFREE;HPO
6261	RYR1	C1854678	MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE	0.200274726784213	BEFREE;ORPHANET
6261	RYR1	C2267233	Neonatal Hypotonia	0.200274726784213	BEFREE;HPO
6261	RYR1	C0005745	Blepharoptosis	0.2	HPO
6261	RYR1	C0005779	Blood Coagulation Disorders	0.2	HPO
6261	RYR1	C0007134	Renal Cell Carcinoma	0.2	CTD_human
6261	RYR1	C0007193	Cardiomyopathy, Dilated	0.2	HPO
6261	RYR1	C0009918	Contracture of joint	0.2	HPO
6261	RYR1	C0011168	Deglutition Disorders	0.2	HPO
6261	RYR1	C0015967	Fever	0.2	HPO
6261	RYR1	C0016202	Flatfoot	0.2	HPO
6261	RYR1	C0019555	Hip Dislocation, Congenital	0.2	HPO
6261	RYR1	C0020224	Polyhydramnios	0.2	HPO
6261	RYR1	C0020305	Hydrops Fetalis	0.2	HPO
6261	RYR1	C0020461	Hyperkalemia	0.2	HPO
6261	RYR1	C0020649	Hypotension	0.2	HPO
6261	RYR1	C0026827	Muscle hypotonia	0.2	HPO
6261	RYR1	C0026837	Muscle Rigidity	0.2	HPO
6261	RYR1	C0026850	Muscular Dystrophy	0.2	HPO
6261	RYR1	C0027080	Myoglobinuria	0.2	HPO
6261	RYR1	C0035229	Respiratory Insufficiency	0.2	HPO
6261	RYR1	C0037932	Curvature of spine	0.2	HPO
6261	RYR1	C0039231	Tachycardia	0.2	HPO
6261	RYR1	C0085681	Hyperphosphatemia (disorder)	0.2	HPO
6261	RYR1	C0086437	Joint laxity	0.2	HPO
6261	RYR1	C0151576	Elevated creatine kinase	0.2	HPO
6261	RYR1	C0162674	Chronic progressive external ophthalmoplegia	0.2	HPO
6261	RYR1	C0221629	Proximal muscle weakness	0.2	HPO
6261	RYR1	C0231246	Failure to gain weight	0.2	HPO
6261	RYR1	C0232466	Feeding difficulties	0.2	HPO
6261	RYR1	C0234146	Absent reflex	0.2	HPO
6261	RYR1	C0234860	Weak cry	0.2	HPO
6261	RYR1	C0234958	muscle degeneration	0.2	HPO
6261	RYR1	C0235659	Reduced fetal movement	0.2	HPO
6261	RYR1	C0240635	Byzanthine arch palate	0.2	HPO
6261	RYR1	C0241005	Creatine phosphokinase serum increased	0.2	HPO
6261	RYR1	C0241772	Reflex, Deep Tendon, Absent	0.2	HPO
6261	RYR1	C0264133	Acquired flat foot	0.2	HPO
6261	RYR1	C0265783	Congenital hypoplasia of lung	0.2	HPO
6261	RYR1	C0270948	Neurogenic Muscular Atrophy	0.2	HPO
6261	RYR1	C0278124	Absent tendon reflex	0.2	HPO
6261	RYR1	C0332615	Myopathic facies	0.2	HPO
6261	RYR1	C0333068	Flexion contracture	0.2	HPO
6261	RYR1	C0376175	Bell Palsy	0.2	HPO
6261	RYR1	C0541794	Skeletal muscle atrophy	0.2	HPO
6261	RYR1	C0553706	SERUM PHOSPHATE ELEVATED	0.2	HPO
6261	RYR1	C0560346	Difficulty running	0.2	HPO
6261	RYR1	C0575158	Kyphoscoliosis deformity of spine	0.2	HPO
6261	RYR1	C0752282	Congenital Structural Myopathy	0.2	CTD_human
6261	RYR1	C1184923	Lumbar lordosis	0.2	HPO
6261	RYR1	C1301959	Bulbar weakness	0.2	HPO
6261	RYR1	C1834558	Myopathy, Centronuclear, Autosomal Dominant	0.2	ORPHANET
6261	RYR1	C1836047	Long face	0.2	HPO
6261	RYR1	C1837463	Narrow face	0.2	HPO
6261	RYR1	C1837514	Phenotypic variability	0.2	HPO
6261	RYR1	C1838869	Proximal neurogenic muscle weakness	0.2	HPO
6261	RYR1	C1839039	Highly variable clinical phenotype	0.2	HPO
6261	RYR1	C1840372	Mixed respiratory and metabolic acidosis	0.2	HPO
6261	RYR1	C1842170	Centrally nucleated skeletal muscle fibers	0.2	HPO
6261	RYR1	C1843479	Neurogenic muscle atrophy, especially in the lower limbs	0.2	HPO
6261	RYR1	C1843697	Axial muscle weakness	0.2	HPO
6261	RYR1	C1843700	Variation in muscle fiber size	0.2	HPO
6261	RYR1	C1848924	Infantile onset	0.2	HPO
6261	RYR1	C1849121	Thin face	0.2	HPO
6261	RYR1	C1850530	Flexion contractures of joints	0.2	HPO
6261	RYR1	C1850667	Highly variable phenotype and severity	0.2	HPO
6261	RYR1	C1850830	Exercise-induced myalgia	0.2	HPO
6261	RYR1	C1854301	Motor delay	0.2	HPO
6261	RYR1	C1854387	Type 1 muscle fiber predominance	0.2	HPO
6261	RYR1	C1854494	Slow progression	0.2	HPO
6261	RYR1	C1855106	Neonatal onset	0.2	HPO
6261	RYR1	C1858719	Facial muscle weakness of muscles innervated by CN VII	0.2	HPO
6261	RYR1	C1861403	Variable expressivity	0.2	HPO
6261	RYR1	C1864711	Muscle biopsy shows dystrophic changes	0.2	HPO
6261	RYR1	C1866021	Increased connective tissue	0.2	HPO
6261	RYR1	C1866210	Highly variable phenotype, even within families	0.2	HPO
6261	RYR1	C1866862	Highly variable severity	0.2	HPO
6261	RYR1	C2315100	Pediatric failure to thrive	0.2	HPO
6261	RYR1	C2674608	Feeding difficulties in infancy	0.2	HPO
6261	RYR1	C2752013	Prenatal onset	0.2	HPO
6261	RYR1	C2930980	Malignant hyperthermia susceptibility type 1	0.2	CTD_human
6261	RYR1	C3806467	Respiratory insufficiency due to muscle weakness	0.2	HPO
6261	RYR1	C3806482	Recurrent respiratory infections	0.2	HPO
6261	RYR1	C3808039	Nemaline rods	0.2	HPO
6261	RYR1	C3839460	Nonprogressive	0.2	HPO
6261	RYR1	C4020855	Respiratory function loss	0.2	HPO
6261	RYR1	C4020868	Elevated heart rate	0.2	HPO
6261	RYR1	C4020874	No development of motor milestones	0.2	HPO
6261	RYR1	C4020899	Autosomal recessive predisposition	0.2	HPO
6261	RYR1	C4025568	Type 1 and type 2 muscle fiber minicore regions	0.2	HPO
6261	RYR1	C4025571	Type 1 fibers relatively smaller than type 2 fibers	0.2	HPO
6261	RYR1	C4082299	Bulbar palsy	0.2	HPO
6261	RYR1	C0270960	Congenital myopathy (disorder)	0.0087912570948192	BEFREE
6261	RYR1	C0270962	Multi-core congenital myopathy	0.0038461749789834	BEFREE
6261	RYR1	C0029089	Ophthalmoplegia	0.00355709281745305	BEFREE;LHGDN
6261	RYR1	C0206157	Myopathies, Nemaline	0.00328236603323995	BEFREE;LHGDN
6261	RYR1	C0000768	Congenital Abnormality	0.00300763924902685	BEFREE;LHGDN
6261	RYR1	C0003811	Cardiac Arrhythmia	0.00273291246481375	LHGDN
6261	RYR1	C0011071	Sudden death	0.00273291246481375	LHGDN
6261	RYR1	C0024299	Lymphoma	0.00273291246481375	LHGDN
6261	RYR1	C3714514	Infection	0.00273291246481375	LHGDN
6261	RYR1	C0376358	Malignant neoplasm of prostate	0.0026817553075011	BEFREE;GAD
6261	RYR1	C1276035	Pena-Shokeir syndrome type I	0.0026817553075011	BEFREE;GAD
6261	RYR1	C0008928	Cleidocranial Dysplasia	0.0024725410579179	BEFREE
6261	RYR1	C0020503	Hyperparathyroidism, Secondary	0.002407028523288	GAD
6261	RYR1	C0040336	Tobacco Use Disorder	0.002407028523288	GAD
6261	RYR1	C0027868	Neuromuscular Diseases	0.0019230874894917	BEFREE
6261	RYR1	C0015230	Exanthema	0.0016483607052786	BEFREE
6261	RYR1	C0030552	Paresis	0.0016483607052786	BEFREE
6261	RYR1	C0151786	Muscle Weakness	0.0016483607052786	BEFREE
6261	RYR1	C0848332	Spots on skin	0.0016483607052786	BEFREE
6261	RYR1	C0175709	Centronuclear myopathy	0.0013736339210655	BEFREE
6261	RYR1	C0278134	Absence of sensation	0.0008241803526393	BEFREE
6261	RYR1	C3899989	Autosomal Dominant Disorder	0.0008241803526393	BEFREE
6261	RYR1	C0018801	Heart failure	0.0005494535684262	BEFREE
6261	RYR1	C0018802	Congestive heart failure	0.0005494535684262	BEFREE
6261	RYR1	C0020538	Hypertensive disease	0.0005494535684262	BEFREE
6261	RYR1	C0027126	Myotonic Dystrophy	0.0005494535684262	BEFREE
6261	RYR1	C0038454	Cerebrovascular accident	0.0005494535684262	BEFREE
6261	RYR1	C0410158	Muscle damage	0.0005494535684262	BEFREE
6261	RYR1	C0546264	Congenital Fiber Type Disproportion	0.0005494535684262	BEFREE
6261	RYR1	C3887505	DYSFUNCTION - SKIN DISORDERS	0.0005494535684262	BEFREE
6261	RYR1	C0005129	Bernard-Soulier Syndrome	0.0002747267842131	BEFREE
6261	RYR1	C0007222	Cardiovascular Diseases	0.0002747267842131	BEFREE
6261	RYR1	C0011989	Camurati-Engelmann Syndrome	0.0002747267842131	BEFREE
6261	RYR1	C0027121	Myositis	0.0002747267842131	BEFREE
6261	RYR1	C0030443	Familial Periodic Paralysis	0.0002747267842131	BEFREE
6261	RYR1	C0035086	Renal Osteodystrophy	0.0002747267842131	BEFREE
6261	RYR1	C0036439	Scoliosis, unspecified	0.0002747267842131	BEFREE
6261	RYR1	C0036572	Seizures	0.0002747267842131	BEFREE
6261	RYR1	C0040100	Thymoma	0.0002747267842131	BEFREE
6261	RYR1	C0149721	Left Ventricular Hypertrophy	0.0002747267842131	BEFREE
6261	RYR1	C0153690	Secondary malignant neoplasm of bone	0.0002747267842131	BEFREE
6261	RYR1	C0155338	Total ophthalmoplegia	0.0002747267842131	BEFREE
6261	RYR1	C0231528	Myalgia	0.0002747267842131	BEFREE
6261	RYR1	C0238358	Hypokalemic periodic paralysis	0.0002747267842131	BEFREE
6261	RYR1	C0242379	Malignant neoplasm of lung	0.0002747267842131	BEFREE
6261	RYR1	C0263992	Exertional rhabdomyolysis (disorder)	0.0002747267842131	BEFREE
6261	RYR1	C0264162	Camptocormia	0.0002747267842131	BEFREE
6261	RYR1	C0270971	Floppy infant syndrome	0.0002747267842131	BEFREE
6261	RYR1	C0340485	Familial ventricular tachycardia	0.0002747267842131	BEFREE
6261	RYR1	C0343239	Benign congenital hypotonia	0.0002747267842131	BEFREE
6261	RYR1	C0424295	Hyperactive behavior	0.0002747267842131	BEFREE
6261	RYR1	C0600139	Prostate carcinoma	0.0002747267842131	BEFREE
6261	RYR1	C0684249	Carcinoma of lung	0.0002747267842131	BEFREE
6261	RYR1	C0743841	Disorder characterized by fever	0.0002747267842131	BEFREE
6261	RYR1	C0750403	Proximal weakness	0.0002747267842131	BEFREE
6261	RYR1	C0947912	Myasthenias	0.0002747267842131	BEFREE
6261	RYR1	C1279412	periodic paralysis (finding)	0.0002747267842131	BEFREE
6261	RYR1	C1302995	Congenital Fibrosis of the Extraocular Muscles	0.0002747267842131	BEFREE
6261	RYR1	C1306460	Primary malignant neoplasm of lung	0.0002747267842131	BEFREE
6261	RYR1	C1319466	Barber Say syndrome	0.0002747267842131	BEFREE
6261	RYR1	C1533847	Disorder of skeletal muscle	0.0002747267842131	BEFREE
6261	RYR1	C1855126	3-Methylglutaconic Aciduria Type IV	0.0002747267842131	BEFREE
6261	RYR1	C1857276	Trichohepatoenteric Syndrome	0.0002747267842131	BEFREE
6261	RYR1	C1857941	Brooke-Spiegler syndrome	0.0002747267842131	BEFREE
6261	RYR1	C3203102	Idiopathic pulmonary arterial hypertension	0.0002747267842131	BEFREE
6261	RYR1	C3250443	MYOTONIC DYSTROPHY 1	0.0002747267842131	BEFREE