TaoMedAI/RareMedData huggingface dataset:
Gene: CSTB
Phenotype: Mental deterioration (HP:0001268)
Associated disease: MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG (OMIM:254800)
Gene: CSTB
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG (OMIM:254800)
Gene: CSTB
Phenotype: Ataxia (HP:0001251)
Associated disease: EPM1; ULD; Unverricht-Lundborg disease; Progressive myoclonus epilepsy type 1; Progressive myoclonic epilepsy type 1 (ORPHA:308)
Gene: CSTB
Phenotype: Ataxia (HP:0001251)
Associated disease: MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG (OMIM:254800)
Gene: CSTB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EPM1; ULD; Unverricht-Lundborg disease; Progressive myoclonus epilepsy type 1; Progressive myoclonic epilepsy type 1 (ORPHA:308)
Gene: CSTB
Phenotype: Dysarthria (HP:0001260)
Associated disease: MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG (OMIM:254800)
Gene: CSTB
Phenotype: Dysarthria (HP:0001260)
Associated disease: EPM1; ULD; Unverricht-Lundborg disease; Progressive myoclonus epilepsy type 1; Progressive myoclonic epilepsy type 1 (ORPHA:308)
Gene: CSTB
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Autosomal recessive anhidrotic ectodermal dysplasia; Autosomal recessive hypohidrotic ectodermal dysplasia; AR-HED (ORPHA:248)
Gene: CSTB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG (OMIM:254800)
Gene: CSTB
Phenotype: Myoclonus (HP:0001336)
Associated disease: MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG (OMIM:254800)
Gene: CSTB
Phenotype: Myoclonus (HP:0001336)
Associated disease: EPM1; ULD; Unverricht-Lundborg disease; Progressive myoclonus epilepsy type 1; Progressive myoclonic epilepsy type 1 (ORPHA:308)
Gene: CSTB
Phenotype: Premature loss of primary teeth (HP:0006323)
Associated disease: Autosomal recessive anhidrotic ectodermal dysplasia; Autosomal recessive hypohidrotic ectodermal dysplasia; AR-HED (ORPHA:248)
Gene: CSTB
Phenotype: Intention tremor (HP:0002080)
Associated disease: EPM1; ULD; Unverricht-Lundborg disease; Progressive myoclonus epilepsy type 1; Progressive myoclonic epilepsy type 1 (ORPHA:308)
Gene: CSTB
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG (OMIM:254800)
Gene: CSTB
Phenotype: Limb ataxia (HP:0002070)
Associated disease: EPM1; ULD; Unverricht-Lundborg disease; Progressive myoclonus epilepsy type 1; Progressive myoclonic epilepsy type 1 (ORPHA:308)
Gene: CSTB
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG (OMIM:254800)
Gene: CSTB
Phenotype: Fine hair (HP:0002213)
Associated disease: Autosomal recessive anhidrotic ectodermal dysplasia; Autosomal recessive hypohidrotic ectodermal dysplasia; AR-HED (ORPHA:248)
Gene: CSTB
Phenotype: Morning myoclonic jerks (HP:0007000)
Associated disease: EPM1; ULD; Unverricht-Lundborg disease; Progressive myoclonus epilepsy type 1; Progressive myoclonic epilepsy type 1 (ORPHA:308)
Gene: CSTB
Phenotype: Abnormal toenail morphology (HP:0008388)
Associated disease: Autosomal recessive anhidrotic ectodermal dysplasia; Autosomal recessive hypohidrotic ectodermal dysplasia; AR-HED (ORPHA:248)
Gene: CSTB
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG (OMIM:254800)
Gene: CSTB
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: EPM1; ULD; Unverricht-Lundborg disease; Progressive myoclonus epilepsy type 1; Progressive myoclonic epilepsy type 1 (ORPHA:308)
Gene: CSTB
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG (OMIM:254800)
Gene: CSTB
Phenotype: Hypoplasia of teeth (HP:0000685)
Associated disease: Autosomal recessive anhidrotic ectodermal dysplasia; Autosomal recessive hypohidrotic ectodermal dysplasia; AR-HED (ORPHA:248)
Gene: CSTB
Phenotype: Dementia (HP:0000726)
Associated disease: MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG (OMIM:254800)
Gene: CSTB
Phenotype: Dementia (HP:0000726)
Associated disease: EPM1; ULD; Unverricht-Lundborg disease; Progressive myoclonus epilepsy type 1; Progressive myoclonic epilepsy type 1 (ORPHA:308)
Gene: CSTB
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: EPM1; ULD; Unverricht-Lundborg disease; Progressive myoclonus epilepsy type 1; Progressive myoclonic epilepsy type 1 (ORPHA:308)
Gene: CSTB
Phenotype: Dry skin (HP:0000958)
Associated disease: Autosomal recessive anhidrotic ectodermal dysplasia; Autosomal recessive hypohidrotic ectodermal dysplasia; AR-HED (ORPHA:248)
Gene: CSTB
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: Autosomal recessive anhidrotic ectodermal dysplasia; Autosomal recessive hypohidrotic ectodermal dysplasia; AR-HED (ORPHA:248)
Gene: CSTB
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: Autosomal recessive anhidrotic ectodermal dysplasia; Autosomal recessive hypohidrotic ectodermal dysplasia; AR-HED (ORPHA:248)
Gene: CSTB
Phenotype: Alopecia (HP:0001596)
Associated disease: Autosomal recessive anhidrotic ectodermal dysplasia; Autosomal recessive hypohidrotic ectodermal dysplasia; AR-HED (ORPHA:248)
Gene: CSTB
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Autosomal recessive anhidrotic ectodermal dysplasia; Autosomal recessive hypohidrotic ectodermal dysplasia; AR-HED (ORPHA:248)
Gene: CSTB
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG (OMIM:254800)
Gene: CSTF2
Phenotype: Motor delay (HP:0001270)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 113 (OMIM:301116)
Gene: CSTF2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 113 (OMIM:301116)
Gene: CSTF2
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 113 (OMIM:301116)
Gene: CSTF2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 113 (OMIM:301116)
Gene: CSTF2
Phenotype: Childhood onset (HP:0011463)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 113 (OMIM:301116)
Gene: NKX2-5
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: NKX2-5
Phenotype: Aortic valve atresia (HP:0010883)
Associated disease: HYPOPLASTIC LEFT HEART SYNDROME 2 (OMIM:614435)
Gene: NKX2-5
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: NKX2-5
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: Del (5)(q35); Distal 5q deletion; Del (5)(qter); Deletion 5q35 syndrome; Telomeric deletion 5q; Monosomy 5q35 (ORPHA:1627)
Gene: NKX2-5
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (OMIM:225250)
Gene: NKX2-5
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-5
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: NKX2-5
Phenotype: Decreased circulating free T3 (HP:0032210)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (OMIM:225250)
Gene: NKX2-5
Phenotype: Stroke (HP:0001297)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: NKX2-5
Phenotype: Motor delay (HP:0001270)
Associated disease: Del (5)(q35); Distal 5q deletion; Del (5)(qter); Deletion 5q35 syndrome; Telomeric deletion 5q; Monosomy 5q35 (ORPHA:1627)
Gene: NKX2-5
Phenotype: Syncope (HP:0001279)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: NKX2-5
Phenotype: Syncope (HP:0001279)
Associated disease: Familial progressive cardiac conduction defect; Familial Lev disease; Familial progressive heart block; Familial Lenègre disease; Familial Lev-Lenègre disease; Familial PCCD; Hereditary bundle branch defect (ORPHA:871)
Gene: NKX2-5
Phenotype: Syncope (HP:0001279)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: NKX2-5
Phenotype: Lethargy (HP:0001254)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-5
Phenotype: Hypotonia (HP:0001252)
Associated disease: Del (5)(q35); Distal 5q deletion; Del (5)(qter); Deletion 5q35 syndrome; Telomeric deletion 5q; Monosomy 5q35 (ORPHA:1627)
Gene: NKX2-5
Phenotype: Hypotonia (HP:0001252)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-5
Phenotype: Hypotonia (HP:0001252)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: NKX2-5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: NKX2-5
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: Del (5)(q35); Distal 5q deletion; Del (5)(qter); Deletion 5q35 syndrome; Telomeric deletion 5q; Monosomy 5q35 (ORPHA:1627)
Gene: NKX2-5
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: NKX2-5
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Del (5)(q35); Distal 5q deletion; Del (5)(qter); Deletion 5q35 syndrome; Telomeric deletion 5q; Monosomy 5q35 (ORPHA:1627)
Gene: NKX2-5
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-5
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: NKX2-5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Gene: NKX2-5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (OMIM:225250)
Gene: NKX2-5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: NKX2-5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: NKX2-5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR SEPTAL DEFECT 3 (OMIM:614432)
Gene: NKX2-5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOPLASTIC LEFT HEART SYNDROME 2 (OMIM:614435)
Gene: NKX2-5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS (OMIM:108900)
Gene: NKX2-5
Phenotype: Abnormal circulating thyroglobulin concentration (HP:0025483)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-5
Phenotype: Cold intolerance (HP:6000855)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: NKX2-5
Phenotype: Macroglossia (HP:0000158)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-5
Phenotype: Macroglossia (HP:0000158)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: NKX2-5
Phenotype: Coldness (HP:0033850)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-5
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Del (5)(q35); Distal 5q deletion; Del (5)(qter); Deletion 5q35 syndrome; Telomeric deletion 5q; Monosomy 5q35 (ORPHA:1627)
Gene: NKX2-5
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: NKX2-5
Phenotype: Constipation (HP:0002019)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-5
Phenotype: Constipation (HP:0002019)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: NKX2-5
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Familial progressive cardiac conduction defect; Familial Lev disease; Familial progressive heart block; Familial Lenègre disease; Familial Lev-Lenègre disease; Familial PCCD; Hereditary bundle branch defect (ORPHA:871)
Gene: NKX2-5
Phenotype: Thyroid hypoplasia (HP:0005990)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (OMIM:225250)
Gene: NKX2-5
Phenotype: Dysphagia (HP:0002015)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: NKX2-5
Phenotype: Breathing dysregulation (HP:0005957)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: NKX2-5
Phenotype: Dyspnea (HP:0002094)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: NKX2-5
Phenotype: Dyspnea (HP:0002094)
Associated disease: Familial progressive cardiac conduction defect; Familial Lev disease; Familial progressive heart block; Familial Lenègre disease; Familial Lev-Lenègre disease; Familial PCCD; Hereditary bundle branch defect (ORPHA:871)
Gene: NKX2-5
Phenotype: Dyspnea (HP:0002094)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: NKX2-5
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: NKX2-5
Phenotype: Pneumonia (HP:0002090)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: NKX2-5
Phenotype: Bundle branch block (HP:0011710)
Associated disease: Familial progressive cardiac conduction defect; Familial Lev disease; Familial progressive heart block; Familial Lenègre disease; Familial Lev-Lenègre disease; Familial PCCD; Hereditary bundle branch defect (ORPHA:871)
Gene: NKX2-5
Phenotype: Bundle branch block (HP:0011710)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: NKX2-5
Phenotype: Bundle branch block (HP:0011710)
Associated disease: Atrial septal defect-atrioventricular conduction defects syndrome (ORPHA:1479)
Gene: NKX2-5
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: NKX2-5
Phenotype: Thyroid agenesis (HP:0008191)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (OMIM:225250)
Gene: NKX2-5
Phenotype: Thyroid agenesis (HP:0008191)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-5
Phenotype: Supraventricular tachycardia (HP:0004755)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: NKX2-5
Phenotype: Atrial flutter (HP:0004749)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: NKX2-5
Phenotype: Unconjugated hyperbilirubinemia (HP:0008282)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-5
Phenotype: Congenital onset (HP:0003577)
Associated disease: VENTRICULAR SEPTAL DEFECT 3 (OMIM:614432)
Gene: NKX2-5
Phenotype: Congenital onset (HP:0003577)
Associated disease: HYPOPLASTIC LEFT HEART SYNDROME 2 (OMIM:614435)
Gene: NKX2-5
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: NKX2-5
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: NKX2-5
Phenotype: Hypersomnia (HP:0100786)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-5
Phenotype: Hypersomnia (HP:0100786)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: NKX2-5
Phenotype: Chest pain (HP:0100749)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: NKX2-5
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-5
Phenotype: Vertigo (HP:0002321)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: NKX2-5
Phenotype: Vertigo (HP:0002321)
Associated disease: Familial progressive cardiac conduction defect; Familial Lev disease; Familial progressive heart block; Familial Lenègre disease; Familial Lev-Lenègre disease; Familial PCCD; Hereditary bundle branch defect (ORPHA:871)
Gene: NKX2-5
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: NKX2-5
Phenotype: Maternal diabetes (HP:0009800)
Associated disease: HLHS; Hypoplastic left heart syndrome (ORPHA:2248)
Gene: NKX2-5
Phenotype: Pedal edema (HP:0010741)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: NKX2-5
Phenotype: Thoracic aorta calcification (HP:0004962)
Associated disease: Familial bicuspid aortic valve; Familial BAV (ORPHA:402075)
Gene: NKX2-5
Phenotype: Pulmonary artery atresia (HP:0004935)
Associated disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS (OMIM:108900)
Gene: NKX2-5
Phenotype: Ascending aortic dissection (HP:0004933)
Associated disease: Familial bicuspid aortic valve; Familial BAV (ORPHA:402075)
Gene: NKX2-5
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: NKX2-5
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: NKX2-5
Phenotype: Intellectual disability, progressive (HP:0006887)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (OMIM:225250)
Gene: NKX2-5
Phenotype: Palpitations (HP:0001962)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: NKX2-5
Phenotype: Palpitations (HP:0001962)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: NKX2-5
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Gene: NKX2-5
Phenotype: Thromboembolism (HP:0001907)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: NKX2-5
Phenotype: Broad hallux (HP:0010055)
Associated disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Gene: NKX2-5
Phenotype: Short stature (HP:0004322)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-5
Phenotype: Short stature (HP:0004322)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: NKX2-5
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: HLHS; Hypoplastic left heart syndrome (ORPHA:2248)
Gene: NKX2-5
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: HYPOPLASTIC LEFT HEART SYNDROME 2 (OMIM:614435)
Gene: NKX2-5
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: Familial bicuspid aortic valve; Familial BAV (ORPHA:402075)
Gene: NKX2-5
Phenotype: Aortic valve calcification (HP:0004380)
Associated disease: Familial bicuspid aortic valve; Familial BAV (ORPHA:402075)
Gene: NKX2-5
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Del (5)(q35); Distal 5q deletion; Del (5)(qter); Deletion 5q35 syndrome; Telomeric deletion 5q; Monosomy 5q35 (ORPHA:1627)
Gene: NKX2-5
Phenotype: Heart block (HP:0012722)
Associated disease: Familial progressive cardiac conduction defect; Familial Lev disease; Familial progressive heart block; Familial Lenègre disease; Familial Lev-Lenègre disease; Familial PCCD; Hereditary bundle branch defect (ORPHA:871)
Gene: NKX2-5
Phenotype: Ectopic thyroid (HP:0100028)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (OMIM:225250)
Gene: NKX2-5
Phenotype: Ectopic thyroid (HP:0100028)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: NKX2-5
Phenotype: Lingual thyroid (HP:0100029)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: NKX2-5
Phenotype: Orthopnea (HP:0012764)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: NKX2-5
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: VENTRICULAR SEPTAL DEFECT 3 (OMIM:614432)
Gene: NKX2-5
Phenotype: Preauricular pit (HP:0004467)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: NKX2-5
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: NKX2-5
Phenotype: Right atrial enlargement (HP:0030718)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: NKX2-5
Phenotype: Congenital hypothyroidism (HP:0000851)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (OMIM:225250)
Gene: NKX2-5
Phenotype: Hypertension (HP:0000822)
Associated disease: Familial bicuspid aortic valve; Familial BAV (ORPHA:402075)
Gene: NKX2-5
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (OMIM:225250)
Gene: NKX2-5
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-5
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: NKX2-5
Phenotype: Abnormality of the thyroid gland (HP:0000820)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: NKX2-5
Phenotype: Mitral atresia (HP:0011560)
Associated disease: HLHS; Hypoplastic left heart syndrome (ORPHA:2248)
Gene: NKX2-5
Phenotype: Mitral atresia (HP:0011560)
Associated disease: HYPOPLASTIC LEFT HEART SYNDROME 2 (OMIM:614435)
Gene: NKX2-5
Phenotype: Decreased circulating free T4 concentration (HP:0033078)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (OMIM:225250)
Gene: NKX2-5
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-5
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: NKX2-5
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Gene: NKX2-5
Phenotype: Dry skin (HP:0000958)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: NKX2-5
Phenotype: Jaundice (HP:0000952)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: NKX2-5
Phenotype: Cyanosis (HP:0000961)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: NKX2-5
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Atrial septal defect-atrioventricular conduction defects syndrome (ORPHA:1479)
Gene: NKX2-5
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial progressive cardiac conduction defect; Familial Lev disease; Familial progressive heart block; Familial Lenègre disease; Familial Lev-Lenègre disease; Familial PCCD; Hereditary bundle branch defect (ORPHA:871)
Gene: NKX2-5
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: NKX2-5
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: NKX2-5
Phenotype: Epicanthus (HP:0000286)
Associated disease: Del (5)(q35); Distal 5q deletion; Del (5)(qter); Deletion 5q35 syndrome; Telomeric deletion 5q; Monosomy 5q35 (ORPHA:1627)
Gene: NKX2-5
Phenotype: Facial edema (HP:0000282)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-5
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-5
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: NKX2-5
Phenotype: Prolonged PR interval (HP:0012248)
Associated disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS (OMIM:108900)
Gene: NKX2-5
Phenotype: ST segment depression (HP:0012250)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: NKX2-5
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Del (5)(q35); Distal 5q deletion; Del (5)(qter); Deletion 5q35 syndrome; Telomeric deletion 5q; Monosomy 5q35 (ORPHA:1627)
Gene: NKX2-5
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-5
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: NKX2-5
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Tetralogy of Fallot (ORPHA:3303)