TaoMedAI/RareMedData huggingface dataset:
Gene: TK2
Phenotype: Cogwheel rigidity (HP:0002396)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: TK2
Phenotype: Difficulty standing (HP:0003698)
Associated disease: Mitochondrial DNA depletion syndrome, myopathic form; mtDNA depletion syndrome, myopathic form (ORPHA:254875)
Gene: TK2
Phenotype: Shuffling gait (HP:0002362)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: TK2
Phenotype: Scapular winging (HP:0003691)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: TK2
Phenotype: Scapular winging (HP:0003691)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3 (OMIM:617069)
Gene: TK2
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560)
Gene: TK2
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: TK2
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3 (OMIM:617069)
Gene: TK2
Phenotype: Developmental regression (HP:0002376)
Associated disease: Mitochondrial DNA depletion syndrome, myopathic form; mtDNA depletion syndrome, myopathic form (ORPHA:254875)
Gene: TK2
Phenotype: Action tremor (HP:0002345)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: TK2
Phenotype: Progressive (HP:0003676)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560)
Gene: TK2
Phenotype: Motor deterioration (HP:0002333)
Associated disease: Mitochondrial DNA depletion syndrome, myopathic form; mtDNA depletion syndrome, myopathic form (ORPHA:254875)
Gene: TK2
Phenotype: Optic neuritis (HP:0100653)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: TK2
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: TK2
Phenotype: Infantile encephalopathy (HP:0007105)
Associated disease: Mitochondrial DNA depletion syndrome, myopathic form; mtDNA depletion syndrome, myopathic form (ORPHA:254875)
Gene: TK2
Phenotype: Progressive proximal muscle weakness (HP:0009073)
Associated disease: Mitochondrial DNA depletion syndrome, myopathic form; mtDNA depletion syndrome, myopathic form (ORPHA:254875)
Gene: TK2
Phenotype: Intellectual disability, progressive (HP:0006887)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560)
Gene: TK2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: TK2
Phenotype: Irritability (HP:0000737)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560)
Gene: TK2
Phenotype: Depression (HP:0000716)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: TK2
Phenotype: Depletion of mitochondrial DNA in muscle tissue (HP:0009141)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3 (OMIM:617069)
Gene: TK2
Phenotype: Depletion of mitochondrial DNA in muscle tissue (HP:0009141)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560)
Gene: TK2
Phenotype: Childhood onset (HP:0011463)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560)
Gene: TK2
Phenotype: Myopathy (HP:0003198)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: TK2
Phenotype: Myopathy (HP:0003198)
Associated disease: Mitochondrial DNA depletion syndrome, myopathic form; mtDNA depletion syndrome, myopathic form (ORPHA:254875)
Gene: TK2
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560)
Gene: TK2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: TK2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3 (OMIM:617069)
Gene: TK2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560)
Gene: TK2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Mitochondrial DNA depletion syndrome, myopathic form; mtDNA depletion syndrome, myopathic form (ORPHA:254875)
Gene: TK2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3 (OMIM:617069)
Gene: TK2
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: TK2
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3 (OMIM:617069)
Gene: TK2
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560)
Gene: TK2
Phenotype: Muscle fiber atrophy (HP:0100295)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: TK2
Phenotype: Mask-like facies (HP:0000298)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: TK2
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Mitochondrial DNA depletion syndrome, myopathic form; mtDNA depletion syndrome, myopathic form (ORPHA:254875)
Gene: TK2
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Mitochondrial DNA depletion syndrome, myopathic form; mtDNA depletion syndrome, myopathic form (ORPHA:254875)
Gene: TK2
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: Mitochondrial DNA depletion syndrome, myopathic form; mtDNA depletion syndrome, myopathic form (ORPHA:254875)
Gene: TK2
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: TK2
Phenotype: Abnormal cerebrospinal fluid morphology (HP:0002921)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: TK2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: TK2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560)
Gene: TK2
Phenotype: Weak voice (HP:0001621)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: TK2
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: TK2
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: Mitochondrial DNA depletion syndrome, myopathic form; mtDNA depletion syndrome, myopathic form (ORPHA:254875)
Gene: TK2
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3 (OMIM:617069)
Gene: TK2
Phenotype: Abnormal retinal morphology (HP:0000479)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: TK2
Phenotype: Hand muscle weakness (HP:0030237)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: TK2
Phenotype: Chronic fatigue (HP:0012432)
Associated disease: Mitochondrial DNA depletion syndrome, myopathic form; mtDNA depletion syndrome, myopathic form (ORPHA:254875)
Gene: TK2
Phenotype: Ptosis (HP:0000508)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: TK2
Phenotype: Ptosis (HP:0000508)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3 (OMIM:617069)
Gene: TK2
Phenotype: Visual impairment (HP:0000505)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: TK2
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Mitochondrial DNA depletion syndrome, myopathic form; mtDNA depletion syndrome, myopathic form (ORPHA:254875)
Gene: TK2
Phenotype: Progressive external ophthalmoplegia (HP:0000590)
Associated disease: Mitochondrial DNA depletion syndrome, myopathic form; mtDNA depletion syndrome, myopathic form (ORPHA:254875)
Gene: TK2
Phenotype: Progressive external ophthalmoplegia (HP:0000590)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3 (OMIM:617069)
Gene: TK2
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: TKT
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Short stature-developmental delay-congenital heart defect syndrome; TKT deficiency; Transketolase deficiency (ORPHA:488618)
Gene: TKT
Phenotype: Hypotonia (HP:0001252)
Associated disease: SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS (OMIM:617044)
Gene: TKT
Phenotype: Hypotonia (HP:0001252)
Associated disease: Short stature-developmental delay-congenital heart defect syndrome; TKT deficiency; Transketolase deficiency (ORPHA:488618)
Gene: TKT
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS (OMIM:617044)
Gene: TKT
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS (OMIM:617044)
Gene: TKT
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Short stature-developmental delay-congenital heart defect syndrome; TKT deficiency; Transketolase deficiency (ORPHA:488618)
Gene: TKT
Phenotype: Absent speech (HP:0001344)
Associated disease: Short stature-developmental delay-congenital heart defect syndrome; TKT deficiency; Transketolase deficiency (ORPHA:488618)
Gene: TKT
Phenotype: Absent speech (HP:0001344)
Associated disease: SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS (OMIM:617044)
Gene: TKT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS (OMIM:617044)
Gene: TKT
Phenotype: Increased level of ribose in urine (HP:0410072)
Associated disease: Short stature-developmental delay-congenital heart defect syndrome; TKT deficiency; Transketolase deficiency (ORPHA:488618)
Gene: TKT
Phenotype: Renal cyst (HP:0000107)
Associated disease: Short stature-developmental delay-congenital heart defect syndrome; TKT deficiency; Transketolase deficiency (ORPHA:488618)
Gene: TKT
Phenotype: Congenital onset (HP:0003577)
Associated disease: SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS (OMIM:617044)
Gene: TKT
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Short stature-developmental delay-congenital heart defect syndrome; TKT deficiency; Transketolase deficiency (ORPHA:488618)
Gene: TKT
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: Short stature-developmental delay-congenital heart defect syndrome; TKT deficiency; Transketolase deficiency (ORPHA:488618)
Gene: TKT
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS (OMIM:617044)
Gene: TKT
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Short stature-developmental delay-congenital heart defect syndrome; TKT deficiency; Transketolase deficiency (ORPHA:488618)
Gene: TKT
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS (OMIM:617044)
Gene: TKT
Phenotype: Proportionate short stature (HP:0003508)
Associated disease: SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS (OMIM:617044)
Gene: TKT
Phenotype: Proportionate short stature (HP:0003508)
Associated disease: Short stature-developmental delay-congenital heart defect syndrome; TKT deficiency; Transketolase deficiency (ORPHA:488618)
Gene: TKT
Phenotype: Seborrheic dermatitis (HP:0001051)
Associated disease: Short stature-developmental delay-congenital heart defect syndrome; TKT deficiency; Transketolase deficiency (ORPHA:488618)
Gene: TKT
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: Short stature-developmental delay-congenital heart defect syndrome; TKT deficiency; Transketolase deficiency (ORPHA:488618)
Gene: TKT
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Short stature-developmental delay-congenital heart defect syndrome; TKT deficiency; Transketolase deficiency (ORPHA:488618)
Gene: TKT
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS (OMIM:617044)
Gene: TKT
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS (OMIM:617044)
Gene: TKT
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Short stature-developmental delay-congenital heart defect syndrome; TKT deficiency; Transketolase deficiency (ORPHA:488618)
Gene: TKT
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: Short stature-developmental delay-congenital heart defect syndrome; TKT deficiency; Transketolase deficiency (ORPHA:488618)
Gene: TKT
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS (OMIM:617044)
Gene: TKT
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: Short stature-developmental delay-congenital heart defect syndrome; TKT deficiency; Transketolase deficiency (ORPHA:488618)
Gene: TKT
Phenotype: Abnormal coronary artery course (HP:0011686)
Associated disease: Short stature-developmental delay-congenital heart defect syndrome; TKT deficiency; Transketolase deficiency (ORPHA:488618)
Gene: TKT
Phenotype: Elevated circulating ribitol concentration (HP:0025550)
Associated disease: Short stature-developmental delay-congenital heart defect syndrome; TKT deficiency; Transketolase deficiency (ORPHA:488618)
Gene: TKT
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Short stature-developmental delay-congenital heart defect syndrome; TKT deficiency; Transketolase deficiency (ORPHA:488618)
Gene: TKT
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Short stature-developmental delay-congenital heart defect syndrome; TKT deficiency; Transketolase deficiency (ORPHA:488618)
Gene: TKT
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS (OMIM:617044)
Gene: TKT
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: Short stature-developmental delay-congenital heart defect syndrome; TKT deficiency; Transketolase deficiency (ORPHA:488618)
Gene: TKT
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS (OMIM:617044)
Gene: TKT
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Short stature-developmental delay-congenital heart defect syndrome; TKT deficiency; Transketolase deficiency (ORPHA:488618)
Gene: TKT
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS (OMIM:617044)
Gene: TKT
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Short stature-developmental delay-congenital heart defect syndrome; TKT deficiency; Transketolase deficiency (ORPHA:488618)
Gene: TKT
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Short stature-developmental delay-congenital heart defect syndrome; TKT deficiency; Transketolase deficiency (ORPHA:488618)
Gene: TKT
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS (OMIM:617044)
Gene: TKT
Phenotype: Strabismus (HP:0000486)
Associated disease: SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS (OMIM:617044)
Gene: TKT
Phenotype: Cataract (HP:0000518)
Associated disease: Short stature-developmental delay-congenital heart defect syndrome; TKT deficiency; Transketolase deficiency (ORPHA:488618)
Gene: TKT
Phenotype: Developmental cataract (HP:0000519)
Associated disease: SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS (OMIM:617044)
Gene: TKT
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Short stature-developmental delay-congenital heart defect syndrome; TKT deficiency; Transketolase deficiency (ORPHA:488618)
Gene: TKT
Phenotype: Uveitis (HP:0000554)
Associated disease: Short stature-developmental delay-congenital heart defect syndrome; TKT deficiency; Transketolase deficiency (ORPHA:488618)
Gene: TKT
Phenotype: Uveitis (HP:0000554)
Associated disease: SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS (OMIM:617044)
Gene: TLL1
Phenotype: Stroke (HP:0001297)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TLL1
Phenotype: Syncope (HP:0001279)
Associated disease: ASD, ostium primum type; Atrial septal defect, ostium primum type (ORPHA:99106)
Gene: TLL1
Phenotype: Syncope (HP:0001279)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TLL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TLL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ATRIAL SEPTAL DEFECT 6 (OMIM:613087)
Gene: TLL1
Phenotype: Left atrial enlargement (HP:0031295)
Associated disease: ASD, ostium primum type; Atrial septal defect, ostium primum type (ORPHA:99106)
Gene: TLL1
Phenotype: Abnormal respiratory system physiology (HP:0002795)
Associated disease: ASD, ostium primum type; Atrial septal defect, ostium primum type (ORPHA:99106)
Gene: TLL1
Phenotype: Tachypnea (HP:0002789)
Associated disease: ASD, ostium primum type; Atrial septal defect, ostium primum type (ORPHA:99106)
Gene: TLL1
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TLL1
Phenotype: Breathing dysregulation (HP:0005957)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TLL1
Phenotype: Dyspnea (HP:0002094)
Associated disease: ASD, ostium primum type; Atrial septal defect, ostium primum type (ORPHA:99106)
Gene: TLL1
Phenotype: Dyspnea (HP:0002094)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TLL1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: ASD, ostium primum type; Atrial septal defect, ostium primum type (ORPHA:99106)
Gene: TLL1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TLL1
Phenotype: Pneumonia (HP:0002090)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TLL1
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: ASD, ostium primum type; Atrial septal defect, ostium primum type (ORPHA:99106)
Gene: TLL1
Phenotype: Bundle branch block (HP:0011710)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TLL1
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TLL1
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: ASD, ostium primum type; Atrial septal defect, ostium primum type (ORPHA:99106)
Gene: TLL1
Phenotype: Supraventricular tachycardia (HP:0004755)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TLL1
Phenotype: Hemoptysis (HP:0002105)
Associated disease: ASD, ostium primum type; Atrial septal defect, ostium primum type (ORPHA:99106)
Gene: TLL1
Phenotype: Atrial flutter (HP:0004749)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TLL1
Phenotype: Atrial flutter (HP:0004749)
Associated disease: ASD, ostium primum type; Atrial septal defect, ostium primum type (ORPHA:99106)
Gene: TLL1
Phenotype: Congenital onset (HP:0003577)
Associated disease: ATRIAL SEPTAL DEFECT 6 (OMIM:613087)
Gene: TLL1
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: ASD, ostium primum type; Atrial septal defect, ostium primum type (ORPHA:99106)
Gene: TLL1
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TLL1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: ASD, ostium primum type; Atrial septal defect, ostium primum type (ORPHA:99106)
Gene: TLL1
Phenotype: Clubbing of toes (HP:0100760)
Associated disease: ASD, ostium primum type; Atrial septal defect, ostium primum type (ORPHA:99106)
Gene: TLL1
Phenotype: Clubbing of fingers (HP:0100759)
Associated disease: ASD, ostium primum type; Atrial septal defect, ostium primum type (ORPHA:99106)
Gene: TLL1
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TLL1
Phenotype: Pedal edema (HP:0010741)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TLL1
Phenotype: Pulmonary artery dilatation (HP:0004927)
Associated disease: ASD, ostium primum type; Atrial septal defect, ostium primum type (ORPHA:99106)
Gene: TLL1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TLL1
Phenotype: Palpitations (HP:0001962)
Associated disease: ASD, ostium primum type; Atrial septal defect, ostium primum type (ORPHA:99106)
Gene: TLL1
Phenotype: Palpitations (HP:0001962)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TLL1
Phenotype: Thromboembolism (HP:0001907)
Associated disease: ASD, ostium primum type; Atrial septal defect, ostium primum type (ORPHA:99106)
Gene: TLL1
Phenotype: Orthopnea (HP:0012764)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TLL1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TLL1
Phenotype: Right atrial enlargement (HP:0030718)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TLL1
Phenotype: Right atrial enlargement (HP:0030718)
Associated disease: ASD, ostium primum type; Atrial septal defect, ostium primum type (ORPHA:99106)
Gene: TLL1
Phenotype: Cyanosis (HP:0000961)
Associated disease: ASD, ostium primum type; Atrial septal defect, ostium primum type (ORPHA:99106)
Gene: TLL1
Phenotype: Cyanosis (HP:0000961)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: TLL1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)