TaoMedAI/RareMedData huggingface dataset:
Gene: FUCA1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Fucosidosis; Alpha-L-fucosidase deficiency (ORPHA:349)
Gene: FUCA1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUCA1
Phenotype: Low-set ears (HP:0000369)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUCA1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: Fucosidosis; Alpha-L-fucosidase deficiency (ORPHA:349)
Gene: FUCA1
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: Fucosidosis; Alpha-L-fucosidase deficiency (ORPHA:349)
Gene: FUCA1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUCA1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Fucosidosis; Alpha-L-fucosidase deficiency (ORPHA:349)
Gene: FUCA1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Wide nose (HP:0000445)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Vascular skin abnormality (HP:0011276)
Associated disease: Fucosidosis; Alpha-L-fucosidase deficiency (ORPHA:349)
Gene: FUCA1
Phenotype: Absent/hypoplastic paranasal sinuses (HP:0005453)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUCA1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Tortuosity of conjunctival vessels (HP:0000503)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Fucosidosis; Alpha-L-fucosidase deficiency (ORPHA:349)
Gene: FUCA1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUS
Phenotype: Bulbar signs (HP:0002483)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Language impairment (HP:0002463)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: FUS
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Dyscalculia (HP:0002442)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: FUS
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: FUS
Phenotype: Anarthria (HP:0002425)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: FUS
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: FUS
Phenotype: Hypertonia (HP:0001276)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Head titubation (HP:0002599)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Gait disturbance (HP:0001288)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 6 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:608030)
Gene: FUS
Phenotype: Gait disturbance (HP:0001288)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Bulbar palsy (HP:0001283)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: FUS
Phenotype: Ataxia (HP:0001251)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Gastrointestinal dysmotility (HP:0002579)
Associated disease: Myxoid/round cell liposarcoma; MRCLS (ORPHA:99967)
Gene: FUS
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 6 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:608030)
Gene: FUS
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: FUS
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Dysarthria (HP:0001260)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: FUS
Phenotype: Dysarthria (HP:0001260)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Spasticity (HP:0001257)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Motor neuron atrophy (HP:0007373)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 6 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:608030)
Gene: FUS
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Inability to walk (HP:0002540)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Retrocollis (HP:0002544)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Axial dystonia (HP:0002530)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 6 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:608030)
Gene: FUS
Phenotype: Jaw hyperreflexia (HP:0033683)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Oromandibular dystonia (HP:0012048)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Dystonia (HP:0001332)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Muscle weakness (HP:0001324)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 6 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:608030)
Gene: FUS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TREMOR, HEREDITARY ESSENTIAL, 4 (OMIM:614782)
Gene: FUS
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Scoliosis (HP:0002650)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: FUS
Phenotype: Parkinsonism (HP:0001300)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Myxoid/round cell liposarcoma; MRCLS (ORPHA:99967)
Gene: FUS
Phenotype: Laryngospasm (HP:0025425)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Progressive distal muscular atrophy (HP:0008955)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Myxoid/round cell liposarcoma; MRCLS (ORPHA:99967)
Gene: FUS
Phenotype: Dysphagia (HP:0002015)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: FUS
Phenotype: Dysphagia (HP:0002015)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Dysphagia (HP:0002015)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Dyspnea (HP:0002094)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Chorea (HP:0002072)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: FUS
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: FUS
Phenotype: Steppage gait (HP:0003376)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: FUS
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Paralysis (HP:0003470)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Babinski sign (HP:0003487)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: FUS
Phenotype: Babinski sign (HP:0003487)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Abnormal upper motor neuron morphology (HP:0002127)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: FUS
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Apraxia (HP:0002186)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: FUS
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Clonus (HP:0002169)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Opisthotonus (HP:0002179)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Postural tremor (HP:0002174)
Associated disease: TREMOR, HEREDITARY ESSENTIAL, 4 (OMIM:614782)
Gene: FUS
Phenotype: Gliosis (HP:0002171)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: FUS
Phenotype: Weakness due to upper motor neuron dysfunction (HP:0010549)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: FUS
Phenotype: Tetraparesis (HP:0002273)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: FUS
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: FUS
Phenotype: Abnormal mitochondrial morphology (HP:0008322)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: FUS
Phenotype: Paraparesis (HP:0002385)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: FUS
Phenotype: Fasciculations (HP:0002380)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: FUS
Phenotype: Fasciculations (HP:0002380)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 6 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:608030)
Gene: FUS
Phenotype: Fasciculations (HP:0002380)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Abnormal lower motor neuron morphology (HP:0002366)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: FUS
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Action tremor (HP:0002345)
Associated disease: TREMOR, HEREDITARY ESSENTIAL, 4 (OMIM:614782)
Gene: FUS
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Degeneration of the lateral corticospinal tracts (HP:0002314)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: FUS
Phenotype: Proximal amyotrophy (HP:0007126)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 6 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:608030)
Gene: FUS
Phenotype: Mutism (HP:0002300)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: FUS
Phenotype: Drooling (HP:0002307)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Neuronal loss in the cerebral cortex (HP:0007190)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: FUS
Phenotype: Nystagmus (HP:0000639)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Supranuclear gaze palsy (HP:0000605)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: FUS
Phenotype: Supranuclear gaze palsy (HP:0000605)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Upper limb spasticity (HP:0006986)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Cachexia (HP:0004326)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Cachexia (HP:0004326)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Arm dystonia (HP:0031960)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Hoffmann sign (HP:0031993)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: FUS
Phenotype: Hallucinations (HP:0000738)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: FUS
Phenotype: Anxiety (HP:0000739)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FUS
Phenotype: Disinhibition (HP:0000734)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: FUS
Phenotype: Apathy (HP:0000741)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)