TaoMedAI/RareMedData huggingface dataset:
Gene: PLA2G6
Phenotype: Neurofibrillary tangles (HP:0002185)
Associated disease: Dystonia-parkinsonism, Paisan-Ruiz type; PARK14; PLA2G6-related dystonia-parkinsonism; Adult-onset dystonia-parkinsonism (ORPHA:199351)
Gene: PLA2G6
Phenotype: Neurofibrillary tangles (HP:0002185)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
Gene: PLA2G6
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
Gene: PLA2G6
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
Gene: PLA2G6
Phenotype: Progressive spasticity (HP:0002191)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Gliosis (HP:0002171)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
Gene: PLA2G6
Phenotype: Postural instability (HP:0002172)
Associated disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
Gene: PLA2G6
Phenotype: Postural instability (HP:0002172)
Associated disease: Dystonia-parkinsonism, Paisan-Ruiz type; PARK14; PLA2G6-related dystonia-parkinsonism; Adult-onset dystonia-parkinsonism (ORPHA:199351)
Gene: PLA2G6
Phenotype: Downbeat nystagmus (HP:0010545)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Dyslexia (HP:0010522)
Associated disease: Dystonia-parkinsonism, Paisan-Ruiz type; PARK14; PLA2G6-related dystonia-parkinsonism; Adult-onset dystonia-parkinsonism (ORPHA:199351)
Gene: PLA2G6
Phenotype: Impulsivity (HP:0100710)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Impulsivity (HP:0100710)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
Gene: PLA2G6
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
Gene: PLA2G6
Phenotype: Paranoia (HP:0011999)
Associated disease: Dystonia-parkinsonism, Paisan-Ruiz type; PARK14; PLA2G6-related dystonia-parkinsonism; Adult-onset dystonia-parkinsonism (ORPHA:199351)
Gene: PLA2G6
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
Gene: PLA2G6
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Generalized cerebral atrophy/hypoplasia (HP:0007058)
Associated disease: Dystonia-parkinsonism, Paisan-Ruiz type; PARK14; PLA2G6-related dystonia-parkinsonism; Adult-onset dystonia-parkinsonism (ORPHA:199351)
Gene: PLA2G6
Phenotype: Psychomotor deterioration (HP:0002361)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Hand tremor (HP:0002378)
Associated disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
Gene: PLA2G6
Phenotype: Developmental regression (HP:0002376)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Developmental regression (HP:0002376)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
Gene: PLA2G6
Phenotype: Progressive (HP:0003676)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
Gene: PLA2G6
Phenotype: Rapidly progressive (HP:0003678)
Associated disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
Gene: PLA2G6
Phenotype: Resting tremor (HP:0002322)
Associated disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
Gene: PLA2G6
Phenotype: Unsteady gait (HP:0002317)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Unsteady gait (HP:0002317)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
Gene: PLA2G6
Phenotype: Eyelid myoclonus (HP:0025097)
Associated disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
Gene: PLA2G6
Phenotype: Dyskinesia (HP:0100660)
Associated disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
Gene: PLA2G6
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Progressive extrapyramidal movement disorder (HP:0007153)
Associated disease: Dystonia-parkinsonism, Paisan-Ruiz type; PARK14; PLA2G6-related dystonia-parkinsonism; Adult-onset dystonia-parkinsonism (ORPHA:199351)
Gene: PLA2G6
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Clumsiness (HP:0002312)
Associated disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
Gene: PLA2G6
Phenotype: Clumsiness (HP:0002312)
Associated disease: Dystonia-parkinsonism, Paisan-Ruiz type; PARK14; PLA2G6-related dystonia-parkinsonism; Adult-onset dystonia-parkinsonism (ORPHA:199351)
Gene: PLA2G6
Phenotype: Drooling (HP:0002307)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Juvenile onset (HP:0003621)
Associated disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
Gene: PLA2G6
Phenotype: Hypometric upward saccades (HP:0031833)
Associated disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
Gene: PLA2G6
Phenotype: Frontotemporal cerebral atrophy (HP:0006892)
Associated disease: Dystonia-parkinsonism, Paisan-Ruiz type; PARK14; PLA2G6-related dystonia-parkinsonism; Adult-onset dystonia-parkinsonism (ORPHA:199351)
Gene: PLA2G6
Phenotype: Frontotemporal cerebral atrophy (HP:0006892)
Associated disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
Gene: PLA2G6
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
Gene: PLA2G6
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
Gene: PLA2G6
Phenotype: Nystagmus (HP:0000639)
Associated disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
Gene: PLA2G6
Phenotype: Nystagmus (HP:0000639)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
Gene: PLA2G6
Phenotype: Optic atrophy (HP:0000648)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
Gene: PLA2G6
Phenotype: Optic atrophy (HP:0000648)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Optic atrophy (HP:0000648)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
Gene: PLA2G6
Phenotype: Blindness (HP:0000618)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Supranuclear gaze palsy (HP:0000605)
Associated disease: Dystonia-parkinsonism, Paisan-Ruiz type; PARK14; PLA2G6-related dystonia-parkinsonism; Adult-onset dystonia-parkinsonism (ORPHA:199351)
Gene: PLA2G6
Phenotype: Cerebellar gliosis (HP:0012698)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Iron accumulation in brain (HP:0012675)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
Gene: PLA2G6
Phenotype: Iron accumulation in brain (HP:0012675)
Associated disease: Dystonia-parkinsonism, Paisan-Ruiz type; PARK14; PLA2G6-related dystonia-parkinsonism; Adult-onset dystonia-parkinsonism (ORPHA:199351)
Gene: PLA2G6
Phenotype: Iron accumulation in brain (HP:0012675)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Eyelid apraxia (HP:0000658)
Associated disease: Dystonia-parkinsonism, Paisan-Ruiz type; PARK14; PLA2G6-related dystonia-parkinsonism; Adult-onset dystonia-parkinsonism (ORPHA:199351)
Gene: PLA2G6
Phenotype: Eyelid apraxia (HP:0000658)
Associated disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
Gene: PLA2G6
Phenotype: Focal dystonia (HP:0004373)
Associated disease: Dystonia-parkinsonism, Paisan-Ruiz type; PARK14; PLA2G6-related dystonia-parkinsonism; Adult-onset dystonia-parkinsonism (ORPHA:199351)
Gene: PLA2G6
Phenotype: Hyperactivity (HP:0000752)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Hyperactivity (HP:0000752)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
Gene: PLA2G6
Phenotype: Personality changes (HP:0000751)
Associated disease: Dystonia-parkinsonism, Paisan-Ruiz type; PARK14; PLA2G6-related dystonia-parkinsonism; Adult-onset dystonia-parkinsonism (ORPHA:199351)
Gene: PLA2G6
Phenotype: Personality changes (HP:0000751)
Associated disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
Gene: PLA2G6
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
Gene: PLA2G6
Phenotype: Short attention span (HP:0000736)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Short attention span (HP:0000736)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
Gene: PLA2G6
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
Gene: PLA2G6
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
Gene: PLA2G6
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Delusion (HP:0000746)
Associated disease: Dystonia-parkinsonism, Paisan-Ruiz type; PARK14; PLA2G6-related dystonia-parkinsonism; Adult-onset dystonia-parkinsonism (ORPHA:199351)
Gene: PLA2G6
Phenotype: Depression (HP:0000716)
Associated disease: Dystonia-parkinsonism, Paisan-Ruiz type; PARK14; PLA2G6-related dystonia-parkinsonism; Adult-onset dystonia-parkinsonism (ORPHA:199351)
Gene: PLA2G6
Phenotype: Depression (HP:0000716)
Associated disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
Gene: PLA2G6
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
Gene: PLA2G6
Phenotype: Emotional lability (HP:0000712)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Emotional lability (HP:0000712)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
Gene: PLA2G6
Phenotype: Autistic behavior (HP:0000729)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Atypical behavior (HP:0000708)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Facial tics (HP:0011468)
Associated disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
Gene: PLA2G6
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
Gene: PLA2G6
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
Gene: PLA2G6
Phenotype: Young adult onset (HP:0011462)
Associated disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
Gene: PLA2G6
Phenotype: Ankle clonus (HP:0011448)
Associated disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
Gene: PLA2G6
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
Gene: PLA2G6
Phenotype: Short nose (HP:0003196)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
Gene: PLA2G6
Phenotype: Lewy bodies (HP:0100315)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
Gene: PLA2G6
Phenotype: Abnormality of peripheral nerve conduction (HP:0003134)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Abnormal circulating creatine kinase concentration (HP:0040081)
Associated disease: Dystonia-parkinsonism, Paisan-Ruiz type; PARK14; PLA2G6-related dystonia-parkinsonism; Adult-onset dystonia-parkinsonism (ORPHA:199351)
Gene: PLA2G6
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
Gene: PLA2G6
Phenotype: Choking episodes (HP:0030842)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Impaired smooth pursuit (HP:0007772)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
Gene: PLA2G6
Phenotype: Vegetative state (HP:0031358)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Hearing impairment (HP:0000365)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
Gene: PLA2G6
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Hypomimic face (HP:0000338)
Associated disease: Dystonia-parkinsonism, Paisan-Ruiz type; PARK14; PLA2G6-related dystonia-parkinsonism; Adult-onset dystonia-parkinsonism (ORPHA:199351)
Gene: PLA2G6
Phenotype: Hypomimic face (HP:0000338)
Associated disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
Gene: PLA2G6
Phenotype: Micrognathia (HP:0000347)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
Gene: PLA2G6
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
Gene: PLA2G6
Phenotype: Strabismus (HP:0000486)
Associated disease: INAD1; Seitelberger disease; Phospholipase A2-associated neurodegeneration; Infantile neuroaxonal dystrophy; INAD; PLAN (ORPHA:35069)
Gene: PLA2G6
Phenotype: Vertical supranuclear gaze palsy (HP:0000511)
Associated disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
Gene: PLA2G6
Phenotype: Prominent forehead (HP:0011220)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
Gene: PLA2G6
Phenotype: Talipes calcaneovalgus (HP:0001884)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
Gene: PLA2G6
Phenotype: Visual loss (HP:0000572)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
Gene: PLA2G6
Phenotype: Hypometric saccades (HP:0000571)
Associated disease: Dystonia-parkinsonism, Paisan-Ruiz type; PARK14; PLA2G6-related dystonia-parkinsonism; Adult-onset dystonia-parkinsonism (ORPHA:199351)
Gene: SLC25A11
Phenotype: Pulsatile tinnitus (HP:0008629)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SLC25A11
Phenotype: Panic attack (HP:0025269)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SLC25A11
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SLC25A11
Phenotype: Episodic abdominal pain (HP:0002574)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SLC25A11
Phenotype: Glomerular sclerosis (HP:0000096)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SLC25A11
Phenotype: Proteinuria (HP:0000093)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SLC25A11
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SLC25A11
Phenotype: Paraganglioma (HP:0002668)
Associated disease: PARAGANGLIOMAS 6 (OMIM:618464)
Gene: SLC25A11
Phenotype: Paraganglioma (HP:0002668)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SLC25A11
Phenotype: Tremor (HP:0001337)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SLC25A11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PARAGANGLIOMAS 6 (OMIM:618464)
Gene: SLC25A11
Phenotype: Hypertension associated with pheochromocytoma (HP:0002640)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SLC25A11
Phenotype: Flushing (HP:0031284)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SLC25A11
Phenotype: Nausea (HP:0002018)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SLC25A11
Phenotype: Elevated circulating catecholamine level (HP:0003334)
Associated disease: PARAGANGLIOMAS 6 (OMIM:618464)
Gene: SLC25A11
Phenotype: Elevated urinary norepinephrine level (HP:0003345)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SLC25A11
Phenotype: Sinus tachycardia (HP:0011703)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SLC25A11
Phenotype: Paroxysmal vertigo (HP:0010532)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SLC25A11
Phenotype: Positive regitine blocking test (HP:0003574)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SLC25A11
Phenotype: Elevated circulating calcitonin concentration (HP:0003528)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SLC25A11
Phenotype: Retinal capillary hemangioma (HP:0009711)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SLC25A11
Phenotype: Chest pain (HP:0100749)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SLC25A11
Phenotype: Elevated urinary dopamine level (HP:0011979)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SLC25A11
Phenotype: Episodic hyperhidrosis (HP:0001069)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SLC25A11
Phenotype: Recurrent paroxysmal headache (HP:0002331)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SLC25A11
Phenotype: Hypertensive retinopathy (HP:0001095)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SLC25A11
Phenotype: Elevated urinary epinephrine level (HP:0003639)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SLC25A11
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SLC25A11
Phenotype: Palpitations (HP:0001962)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SLC25A11
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SLC25A11
Phenotype: Episodic paroxysmal anxiety (HP:0000740)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SLC25A11
Phenotype: Hematuria (HP:0000790)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SLC25A11
Phenotype: Hypertension (HP:0000822)
Associated disease: PARAGANGLIOMAS 6 (OMIM:618464)
Gene: SLC25A11
Phenotype: Pallor (HP:0000980)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SLC25A11
Phenotype: Arachnoid hemangiomatosis (HP:0012222)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SLC25A11
Phenotype: Paraganglioma of head and neck (HP:0002864)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SLC25A11
Phenotype: Fatigue (HP:0012378)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SLC25A11
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SLC25A11
Phenotype: Dysphonia (HP:0001618)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SLC25A11
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SLC25A11
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SLC25A11
Phenotype: Adrenal pheochromocytoma (HP:0006748)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)