TaoMedAI/RareMedData huggingface dataset:
Gene: MAD1L1
Phenotype: Multiple enchondromatosis (HP:0005701)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION (OMIM:620189)
Gene: MAD1L1
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION (OMIM:620189)
Gene: MAD1L1
Phenotype: Cervix cancer (HP:0030079)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION (OMIM:620189)
Gene: MAD1L1
Phenotype: Microcephaly (HP:0000252)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION (OMIM:620189)
Gene: MAD1L1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION (OMIM:620189)
Gene: MAD1L1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION (OMIM:620189)
Gene: MAD1L1
Phenotype: Micrognathia (HP:0000347)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION (OMIM:620189)
Gene: MAD1L1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION (OMIM:620189)
Gene: MAD1L1
Phenotype: Hammertoe (HP:0001765)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION (OMIM:620189)
Gene: MAD1L1
Phenotype: Pes cavus (HP:0001761)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION (OMIM:620189)
Gene: MAD1L1
Phenotype: Embryonal rhabdomyosarcoma (HP:0006743)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION (OMIM:620189)
Gene: MAD1L1
Phenotype: Pilomatrixoma (HP:0030434)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION (OMIM:620189)
Gene: NME5
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 48, WITHOUT SITUS INVERSUS (OMIM:620032)
Gene: NME5
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 48, WITHOUT SITUS INVERSUS (OMIM:620032)
Gene: NME5
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Atelectasis (HP:0100750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Abnormal sputum (HP:0032016)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Abnormal atrial arrangement (HP:0011535)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Wheezing (HP:0030828)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Absent central microtubular pair morphology of respiratory motile cilia (HP:0012264)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 48, WITHOUT SITUS INVERSUS (OMIM:620032)
Gene: NME5
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 48, WITHOUT SITUS INVERSUS (OMIM:620032)
Gene: NME5
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 48, WITHOUT SITUS INVERSUS (OMIM:620032)
Gene: NME5
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 48, WITHOUT SITUS INVERSUS (OMIM:620032)
Gene: NME5
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 48, WITHOUT SITUS INVERSUS (OMIM:620032)
Gene: NME5
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: NME5
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: PLA2G6
Phenotype: Bulbar signs (HP:0002483)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Eye of the tiger anomaly of globus pallidus (HP:0002454)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
Gene: PLA2G6
Phenotype: Stiff hip (HP:0025262)
Associated disease: Dystonia-parkinsonism, Paisan-Ruiz type; PARK14; PLA2G6-related dystonia-parkinsonism; Adult-onset dystonia-parkinsonism (ORPHA:199351)
Gene: PLA2G6
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
Gene: PLA2G6
Phenotype: Hypertonia (HP:0001276)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
Gene: PLA2G6
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
Gene: PLA2G6
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
Gene: PLA2G6
Phenotype: Hemiparesis (HP:0001269)
Associated disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
Gene: PLA2G6
Phenotype: Mental deterioration (HP:0001268)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Mental deterioration (HP:0001268)
Associated disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
Gene: PLA2G6
Phenotype: Mental deterioration (HP:0001268)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
Gene: PLA2G6
Phenotype: Gait disturbance (HP:0001288)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Areflexia (HP:0001284)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
Gene: PLA2G6
Phenotype: Seizure (HP:0001250)
Associated disease: Dystonia-parkinsonism, Paisan-Ruiz type; PARK14; PLA2G6-related dystonia-parkinsonism; Adult-onset dystonia-parkinsonism (ORPHA:199351)
Gene: PLA2G6
Phenotype: Seizure (HP:0001250)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
Gene: PLA2G6
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
Gene: PLA2G6
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
Gene: PLA2G6
Phenotype: Ataxia (HP:0001251)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
Gene: PLA2G6
Phenotype: Ataxia (HP:0001251)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
Gene: PLA2G6
Phenotype: Dysarthria (HP:0001260)
Associated disease: Dystonia-parkinsonism, Paisan-Ruiz type; PARK14; PLA2G6-related dystonia-parkinsonism; Adult-onset dystonia-parkinsonism (ORPHA:199351)
Gene: PLA2G6
Phenotype: Dysarthria (HP:0001260)
Associated disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
Gene: PLA2G6
Phenotype: Dysarthria (HP:0001260)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
Gene: PLA2G6
Phenotype: Dysarthria (HP:0001260)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Dystonia-parkinsonism, Paisan-Ruiz type; PARK14; PLA2G6-related dystonia-parkinsonism; Adult-onset dystonia-parkinsonism (ORPHA:199351)
Gene: PLA2G6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
Gene: PLA2G6
Phenotype: Spasticity (HP:0001257)
Associated disease: Dystonia-parkinsonism, Paisan-Ruiz type; PARK14; PLA2G6-related dystonia-parkinsonism; Adult-onset dystonia-parkinsonism (ORPHA:199351)
Gene: PLA2G6
Phenotype: Spasticity (HP:0001257)
Associated disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
Gene: PLA2G6
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
Gene: PLA2G6
Phenotype: Spasticity (HP:0001257)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Upper limb postural tremor (HP:0007351)
Associated disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
Gene: PLA2G6
Phenotype: Parkinsonism with favorable response to dopaminergic medication (HP:0002548)
Associated disease: Dystonia-parkinsonism, Paisan-Ruiz type; PARK14; PLA2G6-related dystonia-parkinsonism; Adult-onset dystonia-parkinsonism (ORPHA:199351)
Gene: PLA2G6
Phenotype: Axial dystonia (HP:0002530)
Associated disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
Gene: PLA2G6
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
Gene: PLA2G6
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
Gene: PLA2G6
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
Gene: PLA2G6
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Pill-rolling tremor (HP:0025387)
Associated disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
Gene: PLA2G6
Phenotype: Pendular nystagmus (HP:0012043)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Flexion contracture (HP:0001371)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Upgaze palsy (HP:0025331)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Nocturia (HP:0000017)
Associated disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
Gene: PLA2G6
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
Gene: PLA2G6
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Dystonia-parkinsonism, Paisan-Ruiz type; PARK14; PLA2G6-related dystonia-parkinsonism; Adult-onset dystonia-parkinsonism (ORPHA:199351)
Gene: PLA2G6
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
Gene: PLA2G6
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
Gene: PLA2G6
Phenotype: Dystonia (HP:0001332)
Associated disease: Dystonia-parkinsonism, Paisan-Ruiz type; PARK14; PLA2G6-related dystonia-parkinsonism; Adult-onset dystonia-parkinsonism (ORPHA:199351)
Gene: PLA2G6
Phenotype: Dystonia (HP:0001332)
Associated disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
Gene: PLA2G6
Phenotype: Dystonia (HP:0001332)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
Gene: PLA2G6
Phenotype: Dystonia (HP:0001332)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
Gene: PLA2G6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
Gene: PLA2G6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
Gene: PLA2G6
Phenotype: Tremor (HP:0001337)
Associated disease: Dystonia-parkinsonism, Paisan-Ruiz type; PARK14; PLA2G6-related dystonia-parkinsonism; Adult-onset dystonia-parkinsonism (ORPHA:199351)
Gene: PLA2G6
Phenotype: Tremor (HP:0001337)
Associated disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
Gene: PLA2G6
Phenotype: Myoclonus (HP:0001336)
Associated disease: Dystonia-parkinsonism, Paisan-Ruiz type; PARK14; PLA2G6-related dystonia-parkinsonism; Adult-onset dystonia-parkinsonism (ORPHA:199351)
Gene: PLA2G6
Phenotype: Dysmetria (HP:0001310)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
Gene: PLA2G6
Phenotype: Parkinsonism (HP:0001300)
Associated disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
Gene: PLA2G6
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Constipation (HP:0002019)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Dysphagia (HP:0002015)
Associated disease: Dystonia-parkinsonism, Paisan-Ruiz type; PARK14; PLA2G6-related dystonia-parkinsonism; Adult-onset dystonia-parkinsonism (ORPHA:199351)
Gene: PLA2G6
Phenotype: Dysphagia (HP:0002015)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
Gene: PLA2G6
Phenotype: Frontal bossing (HP:0002007)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
Gene: PLA2G6
Phenotype: Temperature instability (HP:0005968)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
Gene: PLA2G6
Phenotype: Apneic episodes in infancy (HP:0005949)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Intention tremor (HP:0002080)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
Gene: PLA2G6
Phenotype: Bradykinesia (HP:0002067)
Associated disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
Gene: PLA2G6
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Dystonia-parkinsonism, Paisan-Ruiz type; PARK14; PLA2G6-related dystonia-parkinsonism; Adult-onset dystonia-parkinsonism (ORPHA:199351)
Gene: PLA2G6
Phenotype: Bradykinesia (HP:0002067)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
Gene: PLA2G6
Phenotype: Gait ataxia (HP:0002066)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
Gene: PLA2G6
Phenotype: Rigidity (HP:0002063)
Associated disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
Gene: PLA2G6
Phenotype: Rigidity (HP:0002063)
Associated disease: Dystonia-parkinsonism, Paisan-Ruiz type; PARK14; PLA2G6-related dystonia-parkinsonism; Adult-onset dystonia-parkinsonism (ORPHA:199351)
Gene: PLA2G6
Phenotype: Abnormal pyramidal tract morphology (HP:0002062)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
Gene: PLA2G6
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
Gene: PLA2G6
Phenotype: Chorea (HP:0002072)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
Gene: PLA2G6
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
Gene: PLA2G6
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
Gene: PLA2G6
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Dystonia-parkinsonism, Paisan-Ruiz type; PARK14; PLA2G6-related dystonia-parkinsonism; Adult-onset dystonia-parkinsonism (ORPHA:199351)
Gene: PLA2G6
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
Gene: PLA2G6
Phenotype: Babinski sign (HP:0003487)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
Gene: PLA2G6
Phenotype: EMG: chronic denervation signs (HP:0003444)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: EMG: chronic denervation signs (HP:0003444)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
Gene: PLA2G6
Phenotype: Diffuse axonal swelling (HP:0003405)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)