TaoMedAI/RareMedData huggingface dataset:
Gene: GJA1
Phenotype: Ridged nail (HP:0001807)
Associated disease: Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia; Palmoplantar keratoderma and congenital alopecia, Stevanovic type; Autosomal dominant palmoplantar keratoderma and congenital alopecia; PPK-CA, Stevanovic type (ORPHA:1010)
Gene: GJA1
Phenotype: Abnormality of the ear (HP:0000598)
Associated disease: ODDD syndrome; Oculodentodigitalis dysplasia; Oculo-dento-digital dysplasia; Oculodentodigital syndrome; Oculodentoosseous dysplasia; Meyer-Schwickerath-Weyers syndrome; ODOD syndrome; Osseous-oculo-dental dysplasia; Oculodentodigital dysplasia; Meyer-Schwickerath syndrome (ORPHA:2710)
Gene: GJA1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: ODDD syndrome; Oculodentodigitalis dysplasia; Oculo-dento-digital dysplasia; Oculodentodigital syndrome; Oculodentoosseous dysplasia; Meyer-Schwickerath-Weyers syndrome; ODOD syndrome; Osseous-oculo-dental dysplasia; Oculodentodigital dysplasia; Meyer-Schwickerath syndrome (ORPHA:2710)
Gene: GJA1
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Uveitis (HP:0000554)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Gene: GJA1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJA1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GJA1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GJA1
Phenotype: Myopia (HP:0000545)
Associated disease: ODDD syndrome; Oculodentodigitalis dysplasia; Oculo-dento-digital dysplasia; Oculodentodigital syndrome; Oculodentoosseous dysplasia; Meyer-Schwickerath-Weyers syndrome; ODOD syndrome; Osseous-oculo-dental dysplasia; Oculodentodigital dysplasia; Meyer-Schwickerath syndrome (ORPHA:2710)
Gene: GJA1
Phenotype: Myopia (HP:0000545)
Associated disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Gene: GJA3
Phenotype: Zonular cataract (HP:0010920)
Associated disease: CATARACT 14, MULTIPLE TYPES (OMIM:601885)
Gene: GJA3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CATARACT 14, MULTIPLE TYPES (OMIM:601885)
Gene: GJA5
Phenotype: Brachydactyly (HP:0001156)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GJA5
Phenotype: Duplication of thumb phalanx (HP:0009942)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Duane anomaly (HP:0009921)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Simple ear (HP:0020206)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GJA5
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Sporadic (HP:0003745)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Syncope (HP:0001279)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GJA5
Phenotype: Seizure (HP:0001250)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Hypotonia (HP:0001252)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Exophoria (HP:0025313)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GJA5
Phenotype: Tremor (HP:0001337)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: GJA5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ATRIAL STANDSTILL 1 (OMIM:108770)
Gene: GJA5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: GJA5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 11 (OMIM:614049)
Gene: GJA5
Phenotype: Scoliosis (HP:0002650)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Palmoplantar erythema (HP:0025493)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Atrial standstill (HP:0025478)
Associated disease: ATRIAL STANDSTILL 1 (OMIM:108770)
Gene: GJA5
Phenotype: Bifid uvula (HP:0000193)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Dyspnea (HP:0002094)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GJA5
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: ATRIAL STANDSTILL 1 (OMIM:108770)
Gene: GJA5
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Paroxysmal atrial fibrillation (HP:0004757)
Associated disease: ATRIAL STANDSTILL 1 (OMIM:108770)
Gene: GJA5
Phenotype: Middle age onset (HP:0003596)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 11 (OMIM:614049)
Gene: GJA5
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GJA5
Phenotype: Atrial cardiomyopathy (HP:0200127)
Associated disease: ATRIAL STANDSTILL 1 (OMIM:108770)
Gene: GJA5
Phenotype: Chest pain (HP:0100749)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GJA5
Phenotype: Frontal balding (HP:0002292)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Schizophrenia (HP:0100753)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Esodeviation (HP:0020045)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Nuclear pulverulent cataract (HP:0010698)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Sutural cataract (HP:0010695)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Vertigo (HP:0002321)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GJA5
Phenotype: Low hanging columella (HP:0009765)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Ascending tubular aorta aneurysm (HP:0004970)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: GJA5
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GJA5
Phenotype: Palpitations (HP:0001962)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GJA5
Phenotype: Truncal obesity (HP:0001956)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Hypotelorism (HP:0000601)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Thromboembolism (HP:0001907)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GJA5
Phenotype: Broad hallux (HP:0010055)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 11 (OMIM:614049)
Gene: GJA5
Phenotype: Microdontia (HP:0000691)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Broad thumb (HP:0011304)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Synophrys (HP:0000664)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Autism (HP:0000717)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Atypical behavior (HP:0000708)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Mesoaxial foot polydactyly (HP:0010112)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Preauricular pit (HP:0004467)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GJA5
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: GJA5
Phenotype: Long lower eyelashes (HP:0040053)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Prolonged P wave (HP:0034308)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 11 (OMIM:614049)
Gene: GJA5
Phenotype: Muscular ventricular septal defect (HP:0011623)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Perimembranous ventricular septal defect (HP:0011682)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: GJA5
Phenotype: Epicanthus (HP:0000286)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Turricephaly (HP:0000262)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Malar flattening (HP:0000272)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GJA5
Phenotype: Prominent occiput (HP:0000269)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GJA5
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 11 (OMIM:614049)
Gene: GJA5
Phenotype: Abnormal nasal morphology (HP:0005105)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GJA5
Phenotype: Microcephaly (HP:0000252)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Brachycephaly (HP:0000248)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: High palate (HP:0000218)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GJA5
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GJA5
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GJA5
Phenotype: Camptodactyly (HP:0012385)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Ventricular escape rhythm (HP:0005155)
Associated disease: ATRIAL STANDSTILL 1 (OMIM:108770)
Gene: GJA5
Phenotype: Low-set ears (HP:0000369)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Long philtrum (HP:0000343)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: GJA5
Phenotype: Broad forehead (HP:0000337)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GJA5
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: GJA5
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Micrognathia (HP:0000347)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Round face (HP:0000311)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: GJA5
Phenotype: Truncus arteriosus (HP:0001660)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: GJA5
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GJA5
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Triangular face (HP:0000325)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GJA5
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: GJA5
Phenotype: Pointed chin (HP:0000307)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: GJA5
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: GJA5
Phenotype: Premature atrial contractions (HP:0006699)
Associated disease: ATRIAL STANDSTILL 1 (OMIM:108770)
Gene: GJA5
Phenotype: Prolonged QRS complex (HP:0006677)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 11 (OMIM:614049)
Gene: GJA5
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: GJA5
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Endocardial fibroelastosis (HP:0001706)
Associated disease: ATRIAL STANDSTILL 1 (OMIM:108770)
Gene: GJA5
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Strabismus (HP:0000486)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Deeply set eye (HP:0000490)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Short neck (HP:0000470)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Pes planus (HP:0001763)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Prominent nose (HP:0000448)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Bulbous nose (HP:0000414)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Protruding ear (HP:0000411)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Cataract (HP:0000518)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Overlapping toe (HP:0001845)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: GJA5
Phenotype: Proptosis (HP:0000520)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: GJA5
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Prominent forehead (HP:0011220)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Microphthalmia (HP:0000568)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Hypermetropia (HP:0000540)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA5
Phenotype: Talipes (HP:0001883)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Brachydactyly (HP:0001156)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Corneal dystrophy (HP:0001131)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: GJA8
Phenotype: Duplication of thumb phalanx (HP:0009942)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Duane anomaly (HP:0009921)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Simple ear (HP:0020206)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Sporadic (HP:0003745)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Seizure (HP:0001250)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Hypotonia (HP:0001252)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Exophoria (HP:0025313)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Tremor (HP:0001337)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)
Gene: GJA8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CATARACT 1, MULTIPLE TYPES (OMIM:116200)
Gene: GJA8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB (OMIM:612474)