Phenotype: Bradycardia (HP:0001662)
Associated genes and diseases:
gene_symbol: NDUFA8
disease_id: OMIM:619272
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37
gene_symbol: SCO2
disease_id: OMIM:604377
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: PRKAG2
disease_id: OMIM:261740
disease_name: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL
gene_symbol: GNB5
disease_id: OMIM:617173
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA
gene_symbol: GNB5
disease_id: OMIM:617182
disease_name: LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA
gene_symbol: GNB5
disease_id: ORPHA:542306
disease_name: GNB5-related intellectual disability-cardiac arrhythmia syndrome
gene_symbol: SGO1
disease_id: OMIM:616201
disease_name: CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA
gene_symbol: SCN5A
disease_id: OMIM:614022
disease_name: ATRIAL FIBRILLATION, FAMILIAL, 10
gene_symbol: SCN5A
disease_id: ORPHA:1344
disease_name: Atrial standstill
Atrial cardiomyopathy with heart block
gene_symbol: CALM3
disease_id: OMIM:618782
disease_name: LONG QT SYNDROME 16
gene_symbol: CALM2
disease_id: OMIM:616249
disease_name: LONG QT SYNDROME 15
gene_symbol: PROP1
disease_id: ORPHA:226307
disease_name: Hypothyroidism due to deficient transcription factors involved in pituitary development or function
gene_symbol: LHX4
disease_id: ORPHA:226307
disease_name: Hypothyroidism due to deficient transcription factors involved in pituitary development or function
gene_symbol: LHX3
disease_id: ORPHA:226307
disease_name: Hypothyroidism due to deficient transcription factors involved in pituitary development or function
gene_symbol: POU1F1
disease_id: ORPHA:226307
disease_name: Hypothyroidism due to deficient transcription factors involved in pituitary development or function
gene_symbol: HESX1
disease_id: ORPHA:226307
disease_name: Hypothyroidism due to deficient transcription factors involved in pituitary development or function
gene_symbol: GBE1
disease_id: OMIM:232500
disease_name: GLYCOGEN STORAGE DISEASE IV
gene_symbol: TMEM43
disease_id: OMIM:614302
disease_name: EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT
gene_symbol: IFNG
disease_id: OMIM:613254
disease_name: TUBEROUS SCLEROSIS 2
gene_symbol: TSC2
disease_id: OMIM:613254
disease_name: TUBEROUS SCLEROSIS 2
gene_symbol: SLC25A20
disease_id: OMIM:212138
disease_name: CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY
gene_symbol: MTO1
disease_id: OMIM:614702
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
gene_symbol: SCN9A
disease_id: OMIM:167400
disease_name: PAROXYSMAL EXTREME PAIN DISORDER
gene_symbol: ACTA1
disease_id: OMIM:620265
disease_name: CONGENITAL MYOPATHY 2B, SEVERE INFANTILE, AUTOSOMAL RECESSIVE
gene_symbol: KCNQ1
disease_id: OMIM:609621
disease_name: SHORT QT SYNDROME 2
gene_symbol: KCNQ1
disease_id: ORPHA:51083
disease_name: Familial short QT syndrome
SQTS
gene_symbol: LAMA3
disease_id: ORPHA:79404
disease_name: Severe generalized junctional epidermolysis bullosa
Epidermolysis bullosa letalis
JEB-H
Junctional epidermolysis bullosa generalisata gravis
Junctional epidermolysis bullosa, Herlitz type
Junctional epidermolysis bullosa, Herlitz-Pearson type
Severe generalized JEB
gene_symbol: LAMC2
disease_id: ORPHA:79404
disease_name: Severe generalized junctional epidermolysis bullosa
Epidermolysis bullosa letalis
JEB-H
Junctional epidermolysis bullosa generalisata gravis
Junctional epidermolysis bullosa, Herlitz type
Junctional epidermolysis bullosa, Herlitz-Pearson type
Severe generalized JEB
gene_symbol: LAMB3
disease_id: ORPHA:79404
disease_name: Severe generalized junctional epidermolysis bullosa
Epidermolysis bullosa letalis
JEB-H
Junctional epidermolysis bullosa generalisata gravis
Junctional epidermolysis bullosa, Herlitz type
Junctional epidermolysis bullosa, Herlitz-Pearson type
Severe generalized JEB
gene_symbol: PAX8
disease_id: OMIM:218700
disease_name: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2
gene_symbol: TSPYL1
disease_id: OMIM:608800
disease_name: SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME
gene_symbol: SCO1
disease_id: OMIM:619048
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4
gene_symbol: HCN4
disease_id: OMIM:619521
disease_name: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 18
gene_symbol: NDUFA2
disease_id: OMIM:618235
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13
gene_symbol: LIPT1
disease_id: OMIM:616299
disease_name: LIPOYLTRANSFERASE 1 DEFICIENCY
gene_symbol: DES
disease_id: OMIM:601419
disease_name: MYOPATHY, MYOFIBRILLAR, 1
gene_symbol: PPA2
disease_id: OMIM:617222
disease_name: SUDDEN CARDIAC FAILURE, INFANTILE
gene_symbol: EFEMP2
disease_id: OMIM:614437
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
gene_symbol: SCN4A
disease_id: OMIM:620351
disease_name: CONGENITAL MYOPATHY 22A, CLASSIC
gene_symbol: TSHR
disease_id: ORPHA:90673
disease_name: Hypothyroidism due to TSH receptor mutations
gene_symbol: TSHB
disease_id: ORPHA:90674
disease_name: Isolated thyroid-stimulating hormone deficiency
Isolated TSH deficiency
Isolated thyrotropin deficiency
gene_symbol: TRPM4
disease_id: OMIM:604559
disease_name: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB
gene_symbol: SFTPC
disease_id: ORPHA:685082
disease_name: Pediatric acute respiratory distress syndrome
PARDS
Pediatric ARDS
gene_symbol: ABCA3
disease_id: ORPHA:685082
disease_name: Pediatric acute respiratory distress syndrome
PARDS
Pediatric ARDS
gene_symbol: SFTPB
disease_id: ORPHA:685082
disease_name: Pediatric acute respiratory distress syndrome
PARDS
Pediatric ARDS
gene_symbol: ACY1
disease_id: OMIM:609924
disease_name: AMINOACYLASE 1 DEFICIENCY
gene_symbol: CACNA1C
disease_id: OMIM:601005
disease_name: TIMOTHY SYNDROME
gene_symbol: GFM2
disease_id: ORPHA:565624
disease_name: Combined oxidative phosphorylation defect type 39
COXPD39
GFM2-related combined oxidative phosphorylation defect
gene_symbol: USP18
disease_id: OMIM:617397
disease_name: PSEUDO-TORCH SYNDROME 2
gene_symbol: GRIN1
disease_id: OMIM:619814
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101
gene_symbol: DUOXA2
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
gene_symbol: SLC5A5
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
gene_symbol: TG
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
gene_symbol: TPO
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
gene_symbol: IYD
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
gene_symbol: DUOX2
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
gene_symbol: NPPA
disease_id: ORPHA:1344
disease_name: Atrial standstill
Atrial cardiomyopathy with heart block
gene_symbol: NPPA
disease_id: OMIM:615745
disease_name: ATRIAL STANDSTILL 2
gene_symbol: MPV17
disease_id: OMIM:256810
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)
gene_symbol: DOLK
disease_id: OMIM:610768
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im
gene_symbol: TWNK
disease_id: OMIM:609286
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3
gene_symbol: CASQ2
disease_id: OMIM:611938
disease_name: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2
gene_symbol: ASXL1
disease_id: ORPHA:97297
disease_name: Bohring-Opitz syndrome
BOS syndrome
Bohring syndrome
C-like syndrome
Oberklaid-Danks syndrome
Opitz trigonocephaly-like syndrome
gene_symbol: MYL4
disease_id: OMIM:617280
disease_name: ATRIAL FIBRILLATION, FAMILIAL, 18
gene_symbol: UQCRFS1
disease_id: OMIM:618775
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10
gene_symbol: ECHS1
disease_id: OMIM:616277
disease_name: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
gene_symbol: GLYCTK
disease_id: OMIM:220120
disease_name: D-GLYCERIC ACIDURIA
gene_symbol: COQ4
disease_id: OMIM:616276
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 7
gene_symbol: TLL1
disease_id: OMIM:613087
disease_name: ATRIAL SEPTAL DEFECT 6
gene_symbol: DST
disease_id: OMIM:614653
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
gene_symbol: COQ9
disease_id: OMIM:614654
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 5
gene_symbol: CACNA1D
disease_id: OMIM:614896
disease_name: SINOATRIAL NODE DYSFUNCTION AND DEAFNESS
gene_symbol: HTRA2
disease_id: OMIM:617248
disease_name: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII
gene_symbol: BRAT1
disease_id: OMIM:614498
disease_name: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
gene_symbol: TANGO2
disease_id: OMIM:616878
disease_name: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION
gene_symbol: CAVIN1
disease_id: OMIM:613327
disease_name: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4
gene_symbol: GLUL
disease_id: OMIM:610015
disease_name: GLUTAMINE DEFICIENCY, CONGENITAL
gene_symbol: CACNA2D1
disease_id: ORPHA:51083
disease_name: Familial short QT syndrome
SQTS
gene_symbol: KCNJ2
disease_id: ORPHA:51083
disease_name: Familial short QT syndrome
SQTS
gene_symbol: KCNH2
disease_id: ORPHA:51083
disease_name: Familial short QT syndrome
SQTS
gene_symbol: SLC4A3
disease_id: ORPHA:51083
disease_name: Familial short QT syndrome
SQTS
gene_symbol: CRELD1
disease_id: OMIM:620771
disease_name: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME
gene_symbol: PRDX1
disease_id: OMIM:277400
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
gene_symbol: MMACHC
disease_id: OMIM:277400
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
gene_symbol: CAV3
disease_id: OMIM:611818
disease_name: LONG QT SYNDROME 9
gene_symbol: CAV3
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: CALM1
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: KCNE1
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: KCNE1
disease_id: OMIM:613695
disease_name: LONG QT SYNDROME 5
gene_symbol: KCNJ5
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: TBX5
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: TBX5
disease_id: OMIM:142900
disease_name: HOLT-ORAM SYNDROME
gene_symbol: SCN10A
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: KCNE2
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: AKAP9
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: NOS1AP
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: TRDN
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: SCN4B
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: SNTA1
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: ANK2
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: ANK2
disease_id: OMIM:600919
disease_name: CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED
gene_symbol: MYO1H
disease_id: OMIM:619482
disease_name: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION
gene_symbol: LMNA
disease_id: OMIM:115200
disease_name: CARDIOMYOPATHY, DILATED, 1A
gene_symbol: HEPHL1
disease_id: OMIM:261990
disease_name: ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY
gene_symbol: KCNA5
disease_id: OMIM:612240
disease_name: ATRIAL FIBRILLATION, FAMILIAL, 7
gene_symbol: GNB2
disease_id: OMIM:619464
disease_name: SICK SINUS SYNDROME 4
gene_symbol: TNNI3K
disease_id: OMIM:616117
disease_name: CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY
gene_symbol: POPDC1
disease_id: OMIM:616812
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 25
gene_symbol: TNNT2
disease_id: OMIM:601494
disease_name: CARDIOMYOPATHY, DILATED, 1D