TaoMedAI/RareMedData huggingface dataset:
Gene: GNE
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: NONAKA MYOPATHY (OMIM:605820)
Gene: GNE
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: IBM2; DMRV; Nonaka myopathy; Quadriceps-sparing myopathy; Distal myopathy with rimmed vacuoles; Inclusion body myopathy type 2; GNE myopathy; Hereditary inclusion body myopathy type 2; Distal myopathy, Nonaka type; HIBM2 (ORPHA:602)
Gene: GNE
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: IBM2; DMRV; Nonaka myopathy; Quadriceps-sparing myopathy; Distal myopathy with rimmed vacuoles; Inclusion body myopathy type 2; GNE myopathy; Hereditary inclusion body myopathy type 2; Distal myopathy, Nonaka type; HIBM2 (ORPHA:602)
Gene: GNE
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: SIALURIA (OMIM:269921)
Gene: GNE
Phenotype: Increased mean platelet volume (HP:0011877)
Associated disease: THROMBOCYTOPENIA 12 WITH OR WITHOUT MYOPATHY (OMIM:620757)
Gene: GNE
Phenotype: Sleep apnea (HP:0010535)
Associated disease: SIALURIA (OMIM:269921)
Gene: GNE
Phenotype: Sleep apnea (HP:0010535)
Associated disease: Sialuria, French type; Sialuria (ORPHA:3166)
Gene: GNE
Phenotype: Infantile onset (HP:0003593)
Associated disease: SIALURIA (OMIM:269921)
Gene: GNE
Phenotype: Congenital onset (HP:0003577)
Associated disease: THROMBOCYTOPENIA 12 WITH OR WITHOUT MYOPATHY (OMIM:620757)
Gene: GNE
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Sialuria, French type; Sialuria (ORPHA:3166)
Gene: GNE
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: SIALURIA (OMIM:269921)
Gene: GNE
Phenotype: Adult onset (HP:0003581)
Associated disease: NONAKA MYOPATHY (OMIM:605820)
Gene: GNE
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: IBM2; DMRV; Nonaka myopathy; Quadriceps-sparing myopathy; Distal myopathy with rimmed vacuoles; Inclusion body myopathy type 2; GNE myopathy; Hereditary inclusion body myopathy type 2; Distal myopathy, Nonaka type; HIBM2 (ORPHA:602)
Gene: GNE
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: SIALURIA (OMIM:269921)
Gene: GNE
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: IBM2; DMRV; Nonaka myopathy; Quadriceps-sparing myopathy; Distal myopathy with rimmed vacuoles; Inclusion body myopathy type 2; GNE myopathy; Hereditary inclusion body myopathy type 2; Distal myopathy, Nonaka type; HIBM2 (ORPHA:602)
Gene: GNE
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: SIALURIA (OMIM:269921)
Gene: GNE
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: SIALURIA (OMIM:269921)
Gene: GNE
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Sialuria, French type; Sialuria (ORPHA:3166)
Gene: GNE
Phenotype: Facial palsy (HP:0010628)
Associated disease: IBM2; DMRV; Nonaka myopathy; Quadriceps-sparing myopathy; Distal myopathy with rimmed vacuoles; Inclusion body myopathy type 2; GNE myopathy; Hereditary inclusion body myopathy type 2; Distal myopathy, Nonaka type; HIBM2 (ORPHA:602)
Gene: GNE
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: NONAKA MYOPATHY (OMIM:605820)
Gene: GNE
Phenotype: Scapular winging (HP:0003691)
Associated disease: IBM2; DMRV; Nonaka myopathy; Quadriceps-sparing myopathy; Distal myopathy with rimmed vacuoles; Inclusion body myopathy type 2; GNE myopathy; Hereditary inclusion body myopathy type 2; Distal myopathy, Nonaka type; HIBM2 (ORPHA:602)
Gene: GNE
Phenotype: Hirsutism (HP:0001007)
Associated disease: SIALURIA (OMIM:269921)
Gene: GNE
Phenotype: Memory impairment (HP:0002354)
Associated disease: Sialuria, French type; Sialuria (ORPHA:3166)
Gene: GNE
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: Sialuria, French type; Sialuria (ORPHA:3166)
Gene: GNE
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: Sialuria, French type; Sialuria (ORPHA:3166)
Gene: GNE
Phenotype: Neuropathic spinal arthropathy (HP:0008443)
Associated disease: Sialuria, French type; Sialuria (ORPHA:3166)
Gene: GNE
Phenotype: Increased megakaryocyte count (HP:0005513)
Associated disease: THROMBOCYTOPENIA 12 WITH OR WITHOUT MYOPATHY (OMIM:620757)
Gene: GNE
Phenotype: Weakness of long finger extensor muscles (HP:0009077)
Associated disease: IBM2; DMRV; Nonaka myopathy; Quadriceps-sparing myopathy; Distal myopathy with rimmed vacuoles; Inclusion body myopathy type 2; GNE myopathy; Hereditary inclusion body myopathy type 2; Distal myopathy, Nonaka type; HIBM2 (ORPHA:602)
Gene: GNE
Phenotype: Anti-HLA antibody positivity (HP:0034016)
Associated disease: THROMBOCYTOPENIA 12 WITH OR WITHOUT MYOPATHY (OMIM:620757)
Gene: GNE
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: SIALURIA (OMIM:269921)
Gene: GNE
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: Sialuria, French type; Sialuria (ORPHA:3166)
Gene: GNE
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: Sialuria, French type; Sialuria (ORPHA:3166)
Gene: GNE
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: NONAKA MYOPATHY (OMIM:605820)
Gene: GNE
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: IBM2; DMRV; Nonaka myopathy; Quadriceps-sparing myopathy; Distal myopathy with rimmed vacuoles; Inclusion body myopathy type 2; GNE myopathy; Hereditary inclusion body myopathy type 2; Distal myopathy, Nonaka type; HIBM2 (ORPHA:602)
Gene: GNE
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Sialuria, French type; Sialuria (ORPHA:3166)
Gene: GNE
Phenotype: Synophrys (HP:0000664)
Associated disease: SIALURIA (OMIM:269921)
Gene: GNE
Phenotype: Childhood onset (HP:0011463)
Associated disease: THROMBOCYTOPENIA 12 WITH OR WITHOUT MYOPATHY (OMIM:620757)
Gene: GNE
Phenotype: Spontaneous, recurrent epistaxis (HP:0004406)
Associated disease: THROMBOCYTOPENIA 12 WITH OR WITHOUT MYOPATHY (OMIM:620757)
Gene: GNE
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: IBM2; DMRV; Nonaka myopathy; Quadriceps-sparing myopathy; Distal myopathy with rimmed vacuoles; Inclusion body myopathy type 2; GNE myopathy; Hereditary inclusion body myopathy type 2; Distal myopathy, Nonaka type; HIBM2 (ORPHA:602)
Gene: GNE
Phenotype: Abnormal right hemidiaphragm morphology (HP:0040047)
Associated disease: IBM2; DMRV; Nonaka myopathy; Quadriceps-sparing myopathy; Distal myopathy with rimmed vacuoles; Inclusion body myopathy type 2; GNE myopathy; Hereditary inclusion body myopathy type 2; Distal myopathy, Nonaka type; HIBM2 (ORPHA:602)
Gene: GNE
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: NONAKA MYOPATHY (OMIM:605820)
Gene: GNE
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: THROMBOCYTOPENIA 12 WITH OR WITHOUT MYOPATHY (OMIM:620757)
Gene: GNE
Phenotype: Anti-platelet antigen antibody positivity (HP:4000170)
Associated disease: THROMBOCYTOPENIA 12 WITH OR WITHOUT MYOPATHY (OMIM:620757)
Gene: GNE
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: THROMBOCYTOPENIA 12 WITH OR WITHOUT MYOPATHY (OMIM:620757)
Gene: GNE
Phenotype: EMG: myotonic discharges (HP:0100284)
Associated disease: IBM2; DMRV; Nonaka myopathy; Quadriceps-sparing myopathy; Distal myopathy with rimmed vacuoles; Inclusion body myopathy type 2; GNE myopathy; Hereditary inclusion body myopathy type 2; Distal myopathy, Nonaka type; HIBM2 (ORPHA:602)
Gene: GNE
Phenotype: Petechiae (HP:0000967)
Associated disease: THROMBOCYTOPENIA 12 WITH OR WITHOUT MYOPATHY (OMIM:620757)
Gene: GNE
Phenotype: Dysostosis multiplex (HP:0000943)
Associated disease: Sialuria, French type; Sialuria (ORPHA:3166)
Gene: GNE
Phenotype: Muscle fiber inclusion bodies (HP:0100299)
Associated disease: IBM2; DMRV; Nonaka myopathy; Quadriceps-sparing myopathy; Distal myopathy with rimmed vacuoles; Inclusion body myopathy type 2; GNE myopathy; Hereditary inclusion body myopathy type 2; Distal myopathy, Nonaka type; HIBM2 (ORPHA:602)
Gene: GNE
Phenotype: Epicanthus (HP:0000286)
Associated disease: Sialuria, French type; Sialuria (ORPHA:3166)
Gene: GNE
Phenotype: Epicanthus (HP:0000286)
Associated disease: SIALURIA (OMIM:269921)
Gene: GNE
Phenotype: Coarse facial features (HP:0000280)
Associated disease: SIALURIA (OMIM:269921)
Gene: GNE
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Sialuria, French type; Sialuria (ORPHA:3166)
Gene: GNE
Phenotype: Macrocephaly (HP:0000256)
Associated disease: SIALURIA (OMIM:269921)
Gene: GNE
Phenotype: Limited shoulder movement (HP:0006467)
Associated disease: IBM2; DMRV; Nonaka myopathy; Quadriceps-sparing myopathy; Distal myopathy with rimmed vacuoles; Inclusion body myopathy type 2; GNE myopathy; Hereditary inclusion body myopathy type 2; Distal myopathy, Nonaka type; HIBM2 (ORPHA:602)
Gene: GNE
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Sialuria, French type; Sialuria (ORPHA:3166)
Gene: GNE
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: SIALURIA (OMIM:269921)
Gene: GNE
Phenotype: High palate (HP:0000218)
Associated disease: SIALURIA (OMIM:269921)
Gene: GNE
Phenotype: EMG: positive sharp waves (HP:0030007)
Associated disease: IBM2; DMRV; Nonaka myopathy; Quadriceps-sparing myopathy; Distal myopathy with rimmed vacuoles; Inclusion body myopathy type 2; GNE myopathy; Hereditary inclusion body myopathy type 2; Distal myopathy, Nonaka type; HIBM2 (ORPHA:602)
Gene: GNE
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: SIALURIA (OMIM:269921)
Gene: GNE
Phenotype: Growth abnormality (HP:0001507)
Associated disease: SIALURIA (OMIM:269921)
Gene: GNE
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: SIALURIA (OMIM:269921)
Gene: GNE
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Sialuria, French type; Sialuria (ORPHA:3166)
Gene: GNE
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Sialuria, French type; Sialuria (ORPHA:3166)
Gene: GNE
Phenotype: Low-set ears (HP:0000369)
Associated disease: Sialuria, French type; Sialuria (ORPHA:3166)
Gene: GNE
Phenotype: Low-set ears (HP:0000369)
Associated disease: SIALURIA (OMIM:269921)
Gene: GNE
Phenotype: Long philtrum (HP:0000343)
Associated disease: SIALURIA (OMIM:269921)
Gene: GNE
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: SIALURIA (OMIM:269921)
Gene: GNE
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: Sialuria, French type; Sialuria (ORPHA:3166)
Gene: GNE
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Sialuria, French type; Sialuria (ORPHA:3166)
Gene: GNE
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SIALURIA (OMIM:269921)
Gene: GNE
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: IBM2; DMRV; Nonaka myopathy; Quadriceps-sparing myopathy; Distal myopathy with rimmed vacuoles; Inclusion body myopathy type 2; GNE myopathy; Hereditary inclusion body myopathy type 2; Distal myopathy, Nonaka type; HIBM2 (ORPHA:602)
Gene: GNE
Phenotype: Splenomegaly (HP:0001744)
Associated disease: SIALURIA (OMIM:269921)
Gene: GNE
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Sialuria, French type; Sialuria (ORPHA:3166)
Gene: GNE
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: SIALURIA (OMIM:269921)
Gene: GNE
Phenotype: Epistaxis (HP:0000421)
Associated disease: THROMBOCYTOPENIA 12 WITH OR WITHOUT MYOPATHY (OMIM:620757)
Gene: GNE
Phenotype: Long hallux (HP:0001847)
Associated disease: SIALURIA (OMIM:269921)
Gene: GNE
Phenotype: Long hallux (HP:0001847)
Associated disease: Sialuria, French type; Sialuria (ORPHA:3166)
Gene: GNE
Phenotype: Fatty replacement of skeletal muscle (HP:0012548)
Associated disease: IBM2; DMRV; Nonaka myopathy; Quadriceps-sparing myopathy; Distal myopathy with rimmed vacuoles; Inclusion body myopathy type 2; GNE myopathy; Hereditary inclusion body myopathy type 2; Distal myopathy, Nonaka type; HIBM2 (ORPHA:602)
Gene: GNE
Phenotype: Prominent forehead (HP:0011220)
Associated disease: SIALURIA (OMIM:269921)
Gene: GNE
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Sialuria, French type; Sialuria (ORPHA:3166)
Gene: GNE
Phenotype: Hip flexor weakness (HP:0012515)
Associated disease: IBM2; DMRV; Nonaka myopathy; Quadriceps-sparing myopathy; Distal myopathy with rimmed vacuoles; Inclusion body myopathy type 2; GNE myopathy; Hereditary inclusion body myopathy type 2; Distal myopathy, Nonaka type; HIBM2 (ORPHA:602)
Gene: GNE
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: THROMBOCYTOPENIA 12 WITH OR WITHOUT MYOPATHY (OMIM:620757)
Gene: HCN4
Phenotype: T-wave inversion (HP:0010872)
Associated disease: SICK SINUS SYNDROME 2 (OMIM:163800)
Gene: HCN4
Phenotype: Syncope (HP:0001279)
Associated disease: SICK SINUS SYNDROME 2 (OMIM:163800)
Gene: HCN4
Phenotype: Syncope (HP:0001279)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: HCN4
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 18 (OMIM:619521)
Gene: HCN4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 18 (OMIM:619521)
Gene: HCN4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: HCN4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SICK SINUS SYNDROME 2 (OMIM:163800)
Gene: HCN4
Phenotype: Trifascicular block (HP:0011715)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: HCN4
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: HCN4
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: BRUGADA SYNDROME 8 (OMIM:613123)
Gene: HCN4
Phenotype: Sick sinus syndrome (HP:0011704)
Associated disease: SICK SINUS SYNDROME 2 (OMIM:163800)
Gene: HCN4
Phenotype: Sick sinus syndrome (HP:0011704)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: HCN4
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: HCN4
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: SICK SINUS SYNDROME 2 (OMIM:163800)
Gene: HCN4
Phenotype: Paroxysmal atrial fibrillation (HP:0004757)
Associated disease: SICK SINUS SYNDROME 2 (OMIM:163800)
Gene: HCN4
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: BRUGADA SYNDROME 8 (OMIM:613123)
Gene: HCN4
Phenotype: Supraventricular tachycardia (HP:0004755)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: HCN4
Phenotype: Paroxysmal ventricular tachycardia (HP:0004751)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: HCN4
Phenotype: Infantile onset (HP:0003593)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 18 (OMIM:619521)
Gene: HCN4
Phenotype: Congenital onset (HP:0003577)
Associated disease: SICK SINUS SYNDROME 2 (OMIM:163800)
Gene: HCN4
Phenotype: Late onset (HP:0003584)
Associated disease: SICK SINUS SYNDROME 2 (OMIM:163800)
Gene: HCN4
Phenotype: Adult onset (HP:0003581)
Associated disease: SICK SINUS SYNDROME 2 (OMIM:163800)
Gene: HCN4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SICK SINUS SYNDROME 2 (OMIM:163800)
Gene: HCN4
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: HCN4
Phenotype: Left ventricular noncompaction (HP:0030682)
Associated disease: SICK SINUS SYNDROME 2 (OMIM:163800)
Gene: HCN4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 18 (OMIM:619521)
Gene: HCN4
Phenotype: Childhood onset (HP:0011463)
Associated disease: SICK SINUS SYNDROME 2 (OMIM:163800)
Gene: HCN4
Phenotype: Young adult onset (HP:0011462)
Associated disease: SICK SINUS SYNDROME 2 (OMIM:163800)
Gene: HCN4
Phenotype: Ventricular bigeminy (HP:0034306)
Associated disease: SICK SINUS SYNDROME 2 (OMIM:163800)
Gene: HCN4
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: HCN4
Phenotype: ST segment elevation (HP:0012251)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: HCN4
Phenotype: ST segment elevation (HP:0012251)
Associated disease: BRUGADA SYNDROME 8 (OMIM:613123)
Gene: HCN4
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: SICK SINUS SYNDROME 2 (OMIM:163800)
Gene: HCN4
Phenotype: Chronotropic incompetence (HP:0033992)
Associated disease: SICK SINUS SYNDROME 2 (OMIM:163800)
Gene: HCN4
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: SICK SINUS SYNDROME 2 (OMIM:163800)
Gene: HCN4
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: SICK SINUS SYNDROME 2 (OMIM:163800)
Gene: HCN4
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: HCN4
Phenotype: Sinus bradycardia (HP:0001688)
Associated disease: SICK SINUS SYNDROME 2 (OMIM:163800)
Gene: HCN4
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: SICK SINUS SYNDROME 2 (OMIM:163800)
Gene: HCN4
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: HCN4
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 18 (OMIM:619521)
Gene: HCN4
Phenotype: Tachycardia (HP:0001649)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: HCN4
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: SICK SINUS SYNDROME 2 (OMIM:163800)
Gene: HCN4
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: HCN4
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: HCN4
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: SICK SINUS SYNDROME 2 (OMIM:163800)
Gene: HCN4
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: HCN4
Phenotype: Bradycardia (HP:0001662)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 18 (OMIM:619521)
Gene: HCN4
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: SICK SINUS SYNDROME 2 (OMIM:163800)
Gene: HCN4
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: SICK SINUS SYNDROME 2 (OMIM:163800)
Gene: HCN4
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: HCN4
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: HCN4
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: SICK SINUS SYNDROME 2 (OMIM:163800)
Gene: HCN4
Phenotype: Abnormal QT interval (HP:0031547)
Associated disease: SICK SINUS SYNDROME 2 (OMIM:163800)
Gene: HCN4
Phenotype: Early young adult onset (HP:0025708)
Associated disease: SICK SINUS SYNDROME 2 (OMIM:163800)
Gene: HCN4
Phenotype: Polymorphic ventricular tachycardia (HP:0031677)
Associated disease: SICK SINUS SYNDROME 2 (OMIM:163800)
Gene: PIGK
Phenotype: Brachydactyly (HP:0001156)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES (OMIM:618879)
Gene: PIGK
Phenotype: Prominent antitragus (HP:0008593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES (OMIM:618879)
Gene: PIGK
Phenotype: High anterior hairline (HP:0009890)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES (OMIM:618879)
Gene: PIGK
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES (OMIM:618879)
Gene: PIGK
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES (OMIM:618879)
Gene: PIGK
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES (OMIM:618879)
Gene: PIGK
Phenotype: Ataxia (HP:0001251)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES (OMIM:618879)
Gene: PIGK
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES (OMIM:618879)
Gene: PIGK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES (OMIM:618879)
Gene: PIGK
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES (OMIM:618879)
Gene: PIGK
Phenotype: Dental crowding (HP:0000678)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES (OMIM:618879)
Gene: PIGK
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES (OMIM:618879)
Gene: PIGK
Phenotype: Decreased circulating alkaline phosphatase activity (HP:0003282)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES (OMIM:618879)
Gene: PIGK
Phenotype: Long face (HP:0000276)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES (OMIM:618879)
Gene: PIGK
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES (OMIM:618879)
Gene: PIGK
Phenotype: Sparse lateral eyebrow (HP:0005338)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES (OMIM:618879)
Gene: PIGK
Phenotype: Prominent forehead (HP:0011220)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES (OMIM:618879)
Gene: PIGK
Phenotype: Decreased expression of GPI-anchored proteins on the cell surface (HP:0041048)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES (OMIM:618879)
Gene: TOM1
Phenotype: Decreased proportion of CD4-positive T cells (HP:0032218)
Associated disease: IMMUNODEFICIENCY 85 AND AUTOIMMUNITY (OMIM:619510)
Gene: TOM1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: IMMUNODEFICIENCY 85 AND AUTOIMMUNITY (OMIM:619510)
Gene: TOM1
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: IMMUNODEFICIENCY 85 AND AUTOIMMUNITY (OMIM:619510)
Gene: TOM1
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: IMMUNODEFICIENCY 85 AND AUTOIMMUNITY (OMIM:619510)
Gene: TOM1
Phenotype: Oligoarthritis (HP:0040313)
Associated disease: IMMUNODEFICIENCY 85 AND AUTOIMMUNITY (OMIM:619510)
Gene: TOM1
Phenotype: Vomiting (HP:0002013)
Associated disease: IMMUNODEFICIENCY 85 AND AUTOIMMUNITY (OMIM:619510)