Phenotype: Falls (HP:0002527)
Associated genes and diseases:
gene_symbol: PDE2A
disease_id: OMIM:619150
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES
gene_symbol: MAPT
disease_id: OMIM:601104
disease_name: SUPRANUCLEAR PALSY, PROGRESSIVE, 1
gene_symbol: MAPT
disease_id: ORPHA:240094
disease_name: Progressive supranuclear palsy-pure akinesia with gait freezing syndrome
PSP-PAGF
PSP-pure akinesia with gait freezing
gene_symbol: MAPT
disease_id: ORPHA:240085
disease_name: Progressive supranuclear palsy-predominant parkinsonism syndrome
PSP-p
PSP-parkinsonism
gene_symbol: MAPT
disease_id: ORPHA:240071
disease_name: Classic progressive supranuclear palsy syndrome
Classic PSP syndrome
Richardson syndrome
Steele-Richardson-Olszewski disease
gene_symbol: MAPT
disease_id: ORPHA:240112
disease_name: Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
PSP-AOS
PSP-PNFA
Progressive supranuclear palsy-apraxia of speech syndrome
gene_symbol: NDUFS8
disease_id: OMIM:618222
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: ACBD5
disease_id: OMIM:618863
disease_name: RETINAL DYSTROPHY WITH LEUKODYSTROPHY
gene_symbol: DNA2
disease_id: OMIM:615156
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6
gene_symbol: SPTBN1
disease_id: OMIM:619475
disease_name: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
gene_symbol: RAPSN
disease_id: OMIM:616326
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
gene_symbol: VPS13C
disease_id: OMIM:616840
disease_name: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET
gene_symbol: OGDH
disease_id: OMIM:203740
disease_name: ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY
gene_symbol: SET
disease_id: OMIM:618106
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58
gene_symbol: TTN
disease_id: ORPHA:178464
disease_name: Hereditary myopathy with early respiratory failure
Edström Myopathy
HIBM-ERF
HMERF
Hereditary inclusion body myopathy with early respiratory failure
MFM-titinopathy
Myofibrillar myopathy with early respiratory failure
Myofibrillar myopathy-titinopathy
gene_symbol: LRAT
disease_id: OMIM:613341
disease_name: LEBER CONGENITAL AMAUROSIS 14
gene_symbol: PRKAR1B
disease_id: ORPHA:412066
disease_name: PRKAR1B-related neurodegenerative dementia with intermediate filaments
gene_symbol: ORAI1
disease_id: OMIM:615883
disease_name: MYOPATHY, TUBULAR AGGREGATE, 2
gene_symbol: ATP13A2
disease_id: OMIM:617225
disease_name: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
gene_symbol: SACS
disease_id: OMIM:270550
disease_name: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
gene_symbol: DAB1
disease_id: ORPHA:363710
disease_name: Spinocerebellar ataxia type 37
SCA37
Spinocerebellar ataxia with altered vertical eye movements
gene_symbol: TPM2
disease_id: OMIM:609285
disease_name: NEMALINE MYOPATHY 4
gene_symbol: POPDC3
disease_id: OMIM:618848
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26
gene_symbol: MYH7
disease_id: OMIM:608358
disease_name: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT
gene_symbol: NKX2-1
disease_id: ORPHA:209905
disease_name: Brain-lung-thyroid syndrome
Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome
gene_symbol: GAN
disease_id: ORPHA:643
disease_name: Giant axonal neuropathy
GAN
gene_symbol: ALDH18A1
disease_id: ORPHA:447753
disease_name: Autosomal dominant spastic paraplegia type 9A
AD-SPG9A
Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome
Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome
gene_symbol: PTS
disease_id: ORPHA:13
disease_name: 6-pyruvoyl-tetrahydropterin synthase deficiency
Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency
gene_symbol: CERS1
disease_id: OMIM:616230
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC, 8
gene_symbol: SDHB
disease_id: OMIM:619224
disease_name: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4
gene_symbol: DNM1
disease_id: ORPHA:2382
disease_name: Lennox-Gastaut syndrome
gene_symbol: GABRB3
disease_id: ORPHA:2382
disease_name: Lennox-Gastaut syndrome
gene_symbol: MAPK10
disease_id: ORPHA:2382
disease_name: Lennox-Gastaut syndrome
gene_symbol: CACNA1A
disease_id: ORPHA:2382
disease_name: Lennox-Gastaut syndrome
gene_symbol: SCN1A
disease_id: ORPHA:2382
disease_name: Lennox-Gastaut syndrome
gene_symbol: CUX2
disease_id: ORPHA:2382
disease_name: Lennox-Gastaut syndrome
gene_symbol: CHD2
disease_id: ORPHA:2382
disease_name: Lennox-Gastaut syndrome
gene_symbol: ATP6AP2
disease_id: OMIM:300423
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE
gene_symbol: FA2H
disease_id: ORPHA:329308
disease_name: Fatty acid hydroxylase-associated neurodegeneration
FAHN
gene_symbol: NEFL
disease_id: OMIM:617882
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
gene_symbol: VPS13A
disease_id: ORPHA:2388
disease_name: Choreoacanthocytosis
ChAc
Chorea-acanthocytosis
Levine-Critchley syndrome
gene_symbol: GNB2
disease_id: OMIM:619503
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
gene_symbol: SLC25A21
disease_id: OMIM:618811
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 18
gene_symbol: RNU4-2
disease_id: OMIM:620851
disease_name: OMIM:620851
gene_symbol: FXN
disease_id: ORPHA:95
disease_name: Friedreich ataxia
FA
FRDA
gene_symbol: DMD
disease_id: ORPHA:98895
disease_name: Becker muscular dystrophy
BMD
Becker dystrophinopathy