Phenotype: Mental deterioration (HP:0001268)
Associated genes and diseases:
gene_symbol: SERPINI1
disease_id: OMIM:604218
disease_name: ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES
gene_symbol: ATXN3
disease_id: OMIM:109150
disease_name: MACHADO-JOSEPH DISEASE
gene_symbol: ATXN3
disease_id: OMIM:168600
disease_name: PARKINSON DISEASE, LATE-ONSET
gene_symbol: CUBN
disease_id: OMIM:261100
disease_name: IMERSLUND-GRASBECK SYNDROME 1
gene_symbol: MATR3
disease_id: OMIM:606070
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 21
gene_symbol: MATR3
disease_id: ORPHA:600
disease_name: Vocal cord and pharyngeal distal myopathy
Distal myopathy with vocal cord weakness
MATR3-related distal myopathy
VCPDM
gene_symbol: CYP27A1
disease_id: OMIM:213700
disease_name: CEREBROTENDINOUS XANTHOMATOSIS
gene_symbol: NDP
disease_id: OMIM:310600
disease_name: NORRIE DISEASE
gene_symbol: PPP2R2B
disease_id: OMIM:604326
disease_name: SPINOCEREBELLAR ATAXIA 12
gene_symbol: PPP2R2B
disease_id: ORPHA:98762
disease_name: Spinocerebellar ataxia type 12
SCA12
gene_symbol: KCTD7
disease_id: ORPHA:263516
disease_name: Progressive myoclonic epilepsy type 3
EPM3
PME type 3
Progressive myoclonic epilepsy due to KCTD7 deficiency
Progressive myoclonus epilepsy type 3
gene_symbol: HEXA
disease_id: OMIM:272800
disease_name: TAY-SACHS DISEASE
gene_symbol: DCTN1
disease_id: ORPHA:178509
disease_name: Perry syndrome
Parkinsonism with alveolar hypoventilation and mental depression
gene_symbol: ATXN2
disease_id: OMIM:183090
disease_name: SPINOCEREBELLAR ATAXIA 2
gene_symbol: ATXN2
disease_id: ORPHA:98756
disease_name: Spinocerebellar ataxia type 2
SCA2
gene_symbol: ATXN2
disease_id: OMIM:168600
disease_name: PARKINSON DISEASE, LATE-ONSET
gene_symbol: IRF6
disease_id: OMIM:119500
disease_name: POPLITEAL PTERYGIUM SYNDROME
gene_symbol: PRKAR1B
disease_id: ORPHA:412066
disease_name: PRKAR1B-related neurodegenerative dementia with intermediate filaments
gene_symbol: NOTCH2NLC
disease_id: ORPHA:2289
disease_name: Neuronal intranuclear inclusion disease
gene_symbol: NOTCH2NLC
disease_id: OMIM:603472
disease_name: NEURONAL INTRANUCLEAR INCLUSION DISEASE
gene_symbol: RNF216
disease_id: OMIM:212840
disease_name: GORDON HOLMES SYNDROME
gene_symbol: RNF216
disease_id: ORPHA:1173
disease_name: Cerebellar ataxia-hypogonadism syndrome
Gordon-Holmes syndrome
Luteinizing hormone-releasing hormone deficiency with ataxia
gene_symbol: ERCC8
disease_id: OMIM:216400
disease_name: COCKAYNE SYNDROME A
gene_symbol: POLG
disease_id: ORPHA:298
disease_name: Mitochondrial neurogastrointestinal encephalomyopathy
MNGIE
gene_symbol: POLG
disease_id: OMIM:203700
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)
gene_symbol: POLG
disease_id: OMIM:607459
disease_name: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS
gene_symbol: POLG
disease_id: OMIM:603041
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)
gene_symbol: TYMP
disease_id: ORPHA:298
disease_name: Mitochondrial neurogastrointestinal encephalomyopathy
MNGIE
gene_symbol: TYMP
disease_id: OMIM:603041
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)
gene_symbol: RRM2B
disease_id: ORPHA:298
disease_name: Mitochondrial neurogastrointestinal encephalomyopathy
MNGIE
gene_symbol: RRM2B
disease_id: ORPHA:480
disease_name: Kearns-Sayre syndrome
gene_symbol: MT-TS1
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-TS1
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TS2
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-TS2
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-ND1
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-ND1
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TL1
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-TL1
disease_id: ORPHA:480
disease_name: Kearns-Sayre syndrome
gene_symbol: MT-TL1
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TL2
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-CO1
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-CO1
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-CO2
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-CO2
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-CO3
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-CO3
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-CYB
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-TC
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-TQ
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-TQ
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TV
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-TW
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-TW
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TF
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-TF
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TH
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-TH
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-ND5
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-ND5
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-ND6
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-ND6
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: APOE
disease_id: OMIM:607822
disease_name: ALZHEIMER DISEASE 3
gene_symbol: APOE
disease_id: OMIM:606889
disease_name: ALZHEIMER DISEASE 4
gene_symbol: APOE
disease_id: OMIM:104310
disease_name: ALZHEIMER DISEASE 2
gene_symbol: DGUOK
disease_id: ORPHA:329314
disease_name: Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency
gene_symbol: DGUOK
disease_id: OMIM:617070
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4
gene_symbol: NAA60
disease_id: ORPHA:1980
disease_name: Bilateral striopallidodentate calcinosis
BSPDC
Cerebrovascular ferrocalcinosis
Idiopathic basal ganglia calcification
PFBC
Primary familial brain calcification
gene_symbol: CMPK2
disease_id: ORPHA:1980
disease_name: Bilateral striopallidodentate calcinosis
BSPDC
Cerebrovascular ferrocalcinosis
Idiopathic basal ganglia calcification
PFBC
Primary familial brain calcification
gene_symbol: SPTLC1
disease_id: OMIM:620285
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE
gene_symbol: TTR
disease_id: OMIM:105210
disease_name: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
gene_symbol: MT-ATP6
disease_id: OMIM:551500
disease_name: NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA
gene_symbol: MT-ATP6
disease_id: ORPHA:644
disease_name: NARP syndrome
Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome
Neuropathy-ataxia-retinitis pigmentosa syndrome
gene_symbol: LYST
disease_id: ORPHA:167
disease_name: Chédiak-Higashi syndrome
Chédiak-Higashi disease
Chédiak-Higashi-Steinbrink syndrome
gene_symbol: ABCB7
disease_id: OMIM:301310
disease_name: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
gene_symbol: CERS1
disease_id: OMIM:616230
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC, 8
gene_symbol: ITM2B
disease_id: OMIM:117300
disease_name: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 2
gene_symbol: ITM2B
disease_id: OMIM:176500
disease_name: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1
gene_symbol: PNPLA6
disease_id: ORPHA:1173
disease_name: Cerebellar ataxia-hypogonadism syndrome
Gordon-Holmes syndrome
Luteinizing hormone-releasing hormone deficiency with ataxia
gene_symbol: CLN3
disease_id: OMIM:204200
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 3
gene_symbol: PARK7
disease_id: ORPHA:2828
disease_name: Young-onset Parkinson disease
Early-onset Parkinson disease
YOPD
gene_symbol: UCHL1
disease_id: ORPHA:2828
disease_name: Young-onset Parkinson disease
Early-onset Parkinson disease
YOPD
gene_symbol: HTRA2
disease_id: ORPHA:2828
disease_name: Young-onset Parkinson disease
Early-onset Parkinson disease
YOPD
gene_symbol: DNAJC6
disease_id: ORPHA:2828
disease_name: Young-onset Parkinson disease
Early-onset Parkinson disease
YOPD
gene_symbol: PODXL
disease_id: ORPHA:2828
disease_name: Young-onset Parkinson disease
Early-onset Parkinson disease
YOPD
gene_symbol: PINK1
disease_id: ORPHA:2828
disease_name: Young-onset Parkinson disease
Early-onset Parkinson disease
YOPD
gene_symbol: PINK1
disease_id: OMIM:605909
disease_name: PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET
gene_symbol: PRKN
disease_id: ORPHA:2828
disease_name: Young-onset Parkinson disease
Early-onset Parkinson disease
YOPD
gene_symbol: PRKN
disease_id: OMIM:600116
disease_name: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
gene_symbol: JPH3
disease_id: ORPHA:98934
disease_name: Huntington disease-like 2
HDL2
gene_symbol: JPH3
disease_id: OMIM:606438
disease_name: HUNTINGTON DISEASE-LIKE 2
gene_symbol: NOTCH3
disease_id: OMIM:125310
disease_name: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
gene_symbol: NOTCH3
disease_id: ORPHA:136
disease_name: Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
CADASIL
Hereditary multi-infarct dementia
gene_symbol: CST3
disease_id: OMIM:105150
disease_name: CEREBRAL AMYLOID ANGIOPATHY, CST3-RELATED
gene_symbol: FTL
disease_id: OMIM:606159
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3
gene_symbol: TREX1
disease_id: OMIM:192315
disease_name: VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS
gene_symbol: CISD2
disease_id: ORPHA:3463
disease_name: Wolfram syndrome
Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome
Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome
DIDMOAD syndrome
Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome
Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome
gene_symbol: WFS1
disease_id: ORPHA:3463
disease_name: Wolfram syndrome
Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome
Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome
DIDMOAD syndrome
Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome
Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome
gene_symbol: WFS1
disease_id: ORPHA:411590
disease_name: Wolfram-like syndrome
gene_symbol: ATN1
disease_id: ORPHA:101
disease_name: Dentatorubral pallidoluysian atrophy
DRPLA
Dentatorubropallidoluysian atrophy
Naito-Oyanagi disease
gene_symbol: ATN1
disease_id: OMIM:125370
disease_name: DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY
gene_symbol: MME
disease_id: ORPHA:497764
disease_name: Spinocerebellar ataxia type 43
SCA43
gene_symbol: MME
disease_id: OMIM:617017
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T
gene_symbol: ATP7B
disease_id: OMIM:277900
disease_name: WILSON DISEASE
gene_symbol: COL4A1
disease_id: OMIM:618564
disease_name: MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT
gene_symbol: SDHA
disease_id: ORPHA:3208
disease_name: Isolated succinate-CoQ reductase deficiency
Isolated mitochondrial respiratory chain complex II deficiency
Isolated succinate dehydrogenase deficiency
Isolated succinate-coenzyme Q reductase deficiency
Isolated succinate-ubiquinone reductase deficiency
gene_symbol: SDHB
disease_id: ORPHA:3208
disease_name: Isolated succinate-CoQ reductase deficiency
Isolated mitochondrial respiratory chain complex II deficiency
Isolated succinate dehydrogenase deficiency
Isolated succinate-coenzyme Q reductase deficiency
Isolated succinate-ubiquinone reductase deficiency
gene_symbol: SDHD
disease_id: ORPHA:3208
disease_name: Isolated succinate-CoQ reductase deficiency
Isolated mitochondrial respiratory chain complex II deficiency
Isolated succinate dehydrogenase deficiency
Isolated succinate-coenzyme Q reductase deficiency
Isolated succinate-ubiquinone reductase deficiency
gene_symbol: SDHAF1
disease_id: ORPHA:3208
disease_name: Isolated succinate-CoQ reductase deficiency
Isolated mitochondrial respiratory chain complex II deficiency
Isolated succinate dehydrogenase deficiency
Isolated succinate-coenzyme Q reductase deficiency
Isolated succinate-ubiquinone reductase deficiency
gene_symbol: PSEN2
disease_id: ORPHA:1020
disease_name: Early-onset autosomal dominant Alzheimer disease
EOFAD
Early-onset familial autosomal dominant Alzheimer disease
Familial Alzheimer disease
gene_symbol: PSEN2
disease_id: OMIM:613697
disease_name: CARDIOMYOPATHY, DILATED, 1V
gene_symbol: PSEN2
disease_id: OMIM:606889
disease_name: ALZHEIMER DISEASE 4
gene_symbol: TOMM40
disease_id: ORPHA:1020
disease_name: Early-onset autosomal dominant Alzheimer disease
EOFAD
Early-onset familial autosomal dominant Alzheimer disease
Familial Alzheimer disease
gene_symbol: ABCA7
disease_id: ORPHA:1020
disease_name: Early-onset autosomal dominant Alzheimer disease
EOFAD
Early-onset familial autosomal dominant Alzheimer disease
Familial Alzheimer disease
gene_symbol: SORL1
disease_id: ORPHA:1020
disease_name: Early-onset autosomal dominant Alzheimer disease
EOFAD
Early-onset familial autosomal dominant Alzheimer disease
Familial Alzheimer disease
gene_symbol: COQ7
disease_id: OMIM:620402
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 9
gene_symbol: SPAST
disease_id: OMIM:182601
disease_name: SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT
gene_symbol: ALDH18A1
disease_id: ORPHA:447757
disease_name: Autosomal dominant spastic paraplegia type 9B
AD-SPG9B
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: MT-TE
disease_id: ORPHA:2596
disease_name: Myopathy and diabetes mellitus
gene_symbol: TWNK
disease_id: OMIM:607459
disease_name: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS
gene_symbol: TWNK
disease_id: OMIM:609286
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3
gene_symbol: DNAJC5
disease_id: OMIM:162350
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT
gene_symbol: MT-ATP8
disease_id: ORPHA:480
disease_name: Kearns-Sayre syndrome
gene_symbol: ZFYVE26
disease_id: ORPHA:100996
disease_name: Autosomal recessive spastic paraplegia type 15
Hereditary spastic paraparesis type 15
Kjellin syndrome
SPG15
Spastic paraplegia-retinal degeneration syndrome
gene_symbol: FBXO7
disease_id: ORPHA:171695
disease_name: Parkinsonian-pyramidal syndrome
Pallidopyramidal syndrome
gene_symbol: CHCHD2
disease_id: OMIM:616710
disease_name: PARKINSON DISEASE 22, AUTOSOMAL DOMINANT
gene_symbol: LMNB1
disease_id: ORPHA:99027
disease_name: Adult-onset autosomal dominant leukodystrophy
ADLD
Adult-onset autosomal dominant demyelinating leukodystrophy
gene_symbol: GCDH
disease_id: ORPHA:25
disease_name: Glutaryl-CoA dehydrogenase deficiency
GA1
GCDHD
Glutaric acidemia type 1
Glutaric aciduria type 1
Glutaryl-coenzyme A dehydrogenase deficiency
gene_symbol: MT-ND4
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: NKX2-1
disease_id: OMIM:118700
disease_name: CHOREA, BENIGN HEREDITARY
gene_symbol: CP
disease_id: OMIM:604290
disease_name: ACERULOPLASMINEMIA
gene_symbol: ERBB4
disease_id: OMIM:615515
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 19
gene_symbol: MPO
disease_id: OMIM:104300
disease_name: ALZHEIMER DISEASE
gene_symbol: NOS3
disease_id: OMIM:104300
disease_name: ALZHEIMER DISEASE
gene_symbol: PLAU
disease_id: OMIM:104300
disease_name: ALZHEIMER DISEASE
gene_symbol: PRICKLE1
disease_id: ORPHA:308
disease_name: Progressive myoclonic epilepsy type 1
EPM1
Progressive myoclonus epilepsy type 1
ULD
Unverricht-Lundborg disease
gene_symbol: ATXN10
disease_id: OMIM:603516
disease_name: SPINOCEREBELLAR ATAXIA 10
gene_symbol: AARS2
disease_id: OMIM:615889
disease_name: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE
gene_symbol: TRPM7
disease_id: OMIM:105500
disease_name: AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1
gene_symbol: CBLIF
disease_id: ORPHA:332
disease_name: Congenital intrinsic factor deficiency
Congenital pernicious anemia
Gastric intrinsic factor deficiency
Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency
IFD
Intrinsic factor deficiency
gene_symbol: DNM1L
disease_id: ORPHA:98673
disease_name: Autosomal dominant optic atrophy, classic form
Autosomal dominant optic atrophy, Kjer type
Kjer optic atrophy
Optic atrophy type 1
gene_symbol: OPA1
disease_id: ORPHA:98673
disease_name: Autosomal dominant optic atrophy, classic form
Autosomal dominant optic atrophy, Kjer type
Kjer optic atrophy
Optic atrophy type 1
gene_symbol: NDUFA1
disease_id: OMIM:301020
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12
gene_symbol: USP48
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: TP53
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: USP8
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: CDH23
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: NR3C1
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: ATRX
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: ERCC4
disease_id: OMIM:278760
disease_name: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F
gene_symbol: GPRC5B
disease_id: OMIM:620447
disease_name: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 3
gene_symbol: ANXA11
disease_id: OMIM:617839
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 23
gene_symbol: RAB39B
disease_id: OMIM:311510
disease_name: WAISMAN SYNDROME
gene_symbol: DLAT
disease_id: ORPHA:79244
disease_name: Pyruvate dehydrogenase E2 deficiency
Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency
Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency
Pyruvate dehydrogenase complex component E2 deficiency
gene_symbol: AUH
disease_id: OMIM:250950
disease_name: 3-METHYLGLUTACONIC ACIDURIA, TYPE I
gene_symbol: NPC1
disease_id: OMIM:257220
disease_name: NIEMANN-PICK DISEASE, TYPE C1
gene_symbol: HLA-DQB1
disease_id: OMIM:123400
disease_name: CREUTZFELDT-JAKOB DISEASE
gene_symbol: GBE1
disease_id: ORPHA:206583
disease_name: Adult polyglucosan body disease
APBD
gene_symbol: TUBB4A
disease_id: ORPHA:98805
disease_name: Primary dystonia, DYT4 type
DYT4
Hereditary whispering dysphonia
gene_symbol: C9orf72
disease_id: OMIM:105550
disease_name: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1
gene_symbol: STARD7
disease_id: OMIM:607876
disease_name: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2
gene_symbol: SAMD9L
disease_id: OMIM:619806
disease_name: SPINOCEREBELLAR ATAXIA 49
gene_symbol: SNCB
disease_id: OMIM:127750
disease_name: DEMENTIA, LEWY BODY
gene_symbol: NPC2
disease_id: OMIM:607625
disease_name: NIEMANN-PICK DISEASE, TYPE C2
gene_symbol: ATP6V0A2
disease_id: ORPHA:357074
disease_name: Autosomal recessive cutis laxa type 2, classic type
ARCL2, Debré type
ARCL2, classic type
Autosomal recessive cutis laxa type 2, Debré type
gene_symbol: ATP6V1E1
disease_id: ORPHA:357074
disease_name: Autosomal recessive cutis laxa type 2, classic type
ARCL2, Debré type
ARCL2, classic type
Autosomal recessive cutis laxa type 2, Debré type
gene_symbol: CYLD
disease_id: OMIM:619132
disease_name: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8
gene_symbol: CPT1C
disease_id: ORPHA:444099
disease_name: Autosomal dominant spastic paraplegia type 73
SPG73
gene_symbol: CFAP43
disease_id: OMIM:236690
disease_name: HYDROCEPHALUS, NORMAL-PRESSURE, 1
gene_symbol: TYROBP
disease_id: OMIM:221770
disease_name: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
gene_symbol: ADH1C
disease_id: OMIM:168600
disease_name: PARKINSON DISEASE, LATE-ONSET
gene_symbol: MT-TT
disease_id: OMIM:168600
disease_name: PARKINSON DISEASE, LATE-ONSET
gene_symbol: SNCAIP
disease_id: OMIM:168600
disease_name: PARKINSON DISEASE, LATE-ONSET
gene_symbol: NR4A2
disease_id: OMIM:168600
disease_name: PARKINSON DISEASE, LATE-ONSET
gene_symbol: ATXN8OS
disease_id: OMIM:168600
disease_name: PARKINSON DISEASE, LATE-ONSET
gene_symbol: PRDX1
disease_id: OMIM:277400
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
gene_symbol: GM2A
disease_id: OMIM:272750
disease_name: GM2-GANGLIOSIDOSIS, AB VARIANT
gene_symbol: CHCHD10
disease_id: OMIM:615911
disease_name: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2
gene_symbol: SCN1A
disease_id: OMIM:607208
disease_name: DRAVET SYNDROME
gene_symbol: SCN1A
disease_id: ORPHA:2382
disease_name: Lennox-Gastaut syndrome
gene_symbol: SCN1A
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: HTT
disease_id: ORPHA:399
disease_name: Huntington disease
Huntington chorea
gene_symbol: SLC2A3
disease_id: ORPHA:399
disease_name: Huntington disease
Huntington chorea
gene_symbol: MTHFR
disease_id: ORPHA:395
disease_name: Homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR deficiency
Methylene tetrahydrofolate reductase deficiency
gene_symbol: POLR3K
disease_id: OMIM:619310
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 21
gene_symbol: SLC44A1
disease_id: OMIM:618868
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE
gene_symbol: FTH1
disease_id: OMIM:620669
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9
gene_symbol: VPS13C
disease_id: OMIM:616840
disease_name: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET
gene_symbol: GNAS
disease_id: OMIM:219080
disease_name: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA
gene_symbol: ATP1A3
disease_id: OMIM:614820
disease_name: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
gene_symbol: ATP1A3
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: DNMT1
disease_id: ORPHA:314404
disease_name: Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
ADCA-DN syndrome
Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome
gene_symbol: GRN
disease_id: OMIM:614706
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 11
gene_symbol: GRN
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: GRN
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: ADA2
disease_id: ORPHA:820
disease_name: Sneddon syndrome
Ehrmann-Sneddon syndrome
Livedo racemosa-cerebrovascular accident syndrome
Livedo reticularis-cerebrovascular accident syndrome
gene_symbol: ADA2
disease_id: OMIM:182410
disease_name: SNEDDON SYNDROME
gene_symbol: MAP2K1
disease_id: ORPHA:389
disease_name: Langerhans cell histiocytosis
Histiocytosis X
Langerhans cell granulomatosis
gene_symbol: NRAS
disease_id: ORPHA:389
disease_name: Langerhans cell histiocytosis
Histiocytosis X
Langerhans cell granulomatosis
gene_symbol: NRAS
disease_id: OMIM:249400
disease_name: MELANOSIS, NEUROCUTANEOUS
gene_symbol: BRAF
disease_id: ORPHA:389
disease_name: Langerhans cell histiocytosis
Histiocytosis X
Langerhans cell granulomatosis
gene_symbol: PSAP
disease_id: OMIM:249900
disease_name: METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY
gene_symbol: PSAP
disease_id: ORPHA:206436
disease_name: Infantile Krabbe disease
Krabbe disease, classic form
Krabbe disease, early-onset
gene_symbol: GALC
disease_id: ORPHA:206443
disease_name: Late-infantile/juvenile Krabbe disease
Krabbe disease, late-onset
gene_symbol: GALC
disease_id: ORPHA:206448
disease_name: Adult Krabbe disease
gene_symbol: GALC
disease_id: ORPHA:206436
disease_name: Infantile Krabbe disease
Krabbe disease, classic form
Krabbe disease, early-onset
gene_symbol: CSF1R
disease_id: OMIM:618476
disease_name: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS
gene_symbol: CSF1R
disease_id: OMIM:221820
disease_name: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS
gene_symbol: HEXB
disease_id: ORPHA:309169
disease_name: Sandhoff disease, adult form
Beta-hexosaminidase subunit beta deficiency, adult form
GM2 gangliosidosis, Sandhoff variant, adult form
GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form
gene_symbol: APP
disease_id: ORPHA:324713
disease_name: ABeta amyloidosis, Italian type
ABetaE22K amyloidosis
HCHWA, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
gene_symbol: APP
disease_id: ORPHA:100006
disease_name: ABeta amyloidosis, Dutch type
ABetaE22Q amyloidosis
HCHWA, Dutch type
HCHWA-D
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
gene_symbol: CTSF
disease_id: OMIM:615362
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 13
gene_symbol: SQSTM1
disease_id: OMIM:617145
disease_name: NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET
gene_symbol: SQSTM1
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: COASY
disease_id: OMIM:615643
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6
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: MAPT
disease_id: ORPHA:240103
disease_name: Progressive supranuclear palsy-corticobasal syndrome
PSP-CBS
PSP-corticobasal syndrome
gene_symbol: MAPT
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: MAPT
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: CLN6
disease_id: OMIM:204300
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE
gene_symbol: PDE11A
disease_id: OMIM:610475
disease_name: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2
gene_symbol: AMACR
disease_id: ORPHA:79095
disease_name: Congenital bile acid synthesis defect type 4
2-methylacyl-CoA racemase deficiency
AMACR deficiency
Alpha-methyl-acyl-CoA racemase deficiency
BASD4
Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome
gene_symbol: L1CAM
disease_id: ORPHA:306617
disease_name: X-linked complicated spastic paraplegia type 1
SPG1
gene_symbol: CSTB
disease_id: OMIM:254800
disease_name: MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG
gene_symbol: PAH
disease_id: ORPHA:79254
disease_name: Classic phenylketonuria
Classic PKU
gene_symbol: BSCL2
disease_id: OMIM:615924
disease_name: ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY
gene_symbol: ATXN7
disease_id: OMIM:164500
disease_name: SPINOCEREBELLAR ATAXIA 7
gene_symbol: ATXN7
disease_id: ORPHA:94147
disease_name: Spinocerebellar ataxia type 7
Ataxia with pigmentary retinopathy
Cerebellar syndrome-pigmentary maculopathy syndrome
SCA7
gene_symbol: GALT
disease_id: ORPHA:79239
disease_name: Classic galactosemia
GALT deficiency
Galactose-1-phosphate uridyltransferase deficiency
Galactosemia type 1
gene_symbol: COX6B1
disease_id: OMIM:619051
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7
gene_symbol: MBTPS2
disease_id: ORPHA:2273
disease_name: Ichthyosis follicularis-alopecia-photophobia syndrome
IFAP syndrome
Ichthyosis follicularis-atrichia-photophobia syndrome
gene_symbol: SNORD118
disease_id: OMIM:614561
disease_name: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS
gene_symbol: SNORD118
disease_id: ORPHA:542310
disease_name: Leukoencephalopathy with calcifications and cysts
LCC
Labrune syndrome
gene_symbol: SYNJ1
disease_id: OMIM:615530
disease_name: PARKINSON DISEASE 20, EARLY-ONSET
gene_symbol: SYNJ1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: ABCD1
disease_id: ORPHA:139396
disease_name: X-linked cerebral adrenoleukodystrophy
X-CALD
gene_symbol: ABCD1
disease_id: OMIM:300100
disease_name: ADRENOLEUKODYSTROPHY
gene_symbol: UBTF
disease_id: OMIM:617672
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY
gene_symbol: KCNC1
disease_id: OMIM:616187
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC 7
gene_symbol: GDAP2
disease_id: OMIM:618369
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27
gene_symbol: DARS2
disease_id: ORPHA:137898
disease_name: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
LBSL
Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome
gene_symbol: CLN8
disease_id: OMIM:610003
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT
gene_symbol: GBA1
disease_id: ORPHA:411602
disease_name: Hereditary late-onset Parkinson disease
Autosomal dominant late-onset Parkinson disease
LOPD
gene_symbol: DNAJC13
disease_id: ORPHA:411602
disease_name: Hereditary late-onset Parkinson disease
Autosomal dominant late-onset Parkinson disease
LOPD
gene_symbol: EIF4G1
disease_id: ORPHA:411602
disease_name: Hereditary late-onset Parkinson disease
Autosomal dominant late-onset Parkinson disease
LOPD
gene_symbol: VPS35
disease_id: ORPHA:411602
disease_name: Hereditary late-onset Parkinson disease
Autosomal dominant late-onset Parkinson disease
LOPD
gene_symbol: LRRK2
disease_id: ORPHA:411602
disease_name: Hereditary late-onset Parkinson disease
Autosomal dominant late-onset Parkinson disease
LOPD
gene_symbol: GIGYF2
disease_id: ORPHA:411602
disease_name: Hereditary late-onset Parkinson disease
Autosomal dominant late-onset Parkinson disease
LOPD
gene_symbol: SNCA
disease_id: ORPHA:411602
disease_name: Hereditary late-onset Parkinson disease
Autosomal dominant late-onset Parkinson disease
LOPD
gene_symbol: SNCA
disease_id: OMIM:168601
disease_name: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT
gene_symbol: SLC20A2
disease_id: OMIM:213600
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1
gene_symbol: PDGFRB
disease_id: OMIM:213600
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1
gene_symbol: XPR1
disease_id: OMIM:213600
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1
gene_symbol: PDGFB
disease_id: OMIM:213600
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1
gene_symbol: PRKAR1A
disease_id: OMIM:610489
disease_name: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1
gene_symbol: CTSD
disease_id: OMIM:610127
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 10
gene_symbol: ERCC6
disease_id: OMIM:278800
disease_name: DE SANCTIS-CACCHIONE SYNDROME
gene_symbol: PLA2G6
disease_id: ORPHA:35069
disease_name: Infantile neuroaxonal dystrophy
INAD
INAD1
PLAN
Phospholipase A2-associated neurodegeneration
Seitelberger disease
gene_symbol: PLA2G6
disease_id: OMIM:612953
disease_name: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
gene_symbol: PLA2G6
disease_id: OMIM:610217
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B
gene_symbol: GOSR2
disease_id: OMIM:620166
disease_name: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES
gene_symbol: AASS
disease_id: ORPHA:3124
disease_name: Saccharopinuria
Hyperlysinemia type II
Saccharopine dehydrogenase deficiency
gene_symbol: AGK
disease_id: OMIM:212350
disease_name: SENGERS SYNDROME
gene_symbol: MT-TK
disease_id: ORPHA:1349
disease_name: Mitochondrial DNA-related cardiomyopathy and hearing loss
Maternally-inherited cardiomyopathy and deafness
mtDNA-related cardiomyopathy and deafness
mtDNA-related cardiomyopathy and hearing loss
tRNA-LYS-related cardiomyopathy-hearing loss syndrome
gene_symbol: PRKCG
disease_id: OMIM:605361
disease_name: SPINOCEREBELLAR ATAXIA 14
gene_symbol: STUB1
disease_id: OMIM:618093
disease_name: SPINOCEREBELLAR ATAXIA 48
gene_symbol: ACTB
disease_id: ORPHA:79107
disease_name: Developmental malformations-deafness-dystonia syndrome
Developmental malformations-hearing loss-dystonia syndrome
gene_symbol: TIMM8A
disease_id: OMIM:304700
disease_name: MOHR-TRANEBJAERG SYNDROME
gene_symbol: TIMM8A
disease_id: ORPHA:52368
disease_name: Mohr-Tranebjaerg syndrome
DDON syndrome
Deafness-dystonia-optic neuronopathy syndrome
Hearing loss-dystonia-optic neuronopathy syndrome
gene_symbol: TTPA
disease_id: ORPHA:96
disease_name: Ataxia with vitamin E deficiency
AVED
Ataxia with isolated vitamin E deficiency
Familial isolated vitamin E deficiency
Friedreich-like ataxia
Isolated vitamin E deficiency
gene_symbol: SPG21
disease_id: ORPHA:101001
disease_name: Autosomal recessive spastic paraplegia type 21
Mast syndrome
SPG21
gene_symbol: FMR1
disease_id: OMIM:300623
disease_name: FRAGILE X TREMOR/ATAXIA SYNDROME
gene_symbol: SCN2A
disease_id: ORPHA:140927
disease_name: Self-limited neonatal-infantile epilepsy
BFNIS
Benign familial neonatal-infantile seizures
Benign neonatal-infantile epilepsy
SeLFNIE
gene_symbol: KCNQ2
disease_id: ORPHA:140927
disease_name: Self-limited neonatal-infantile epilepsy
BFNIS
Benign familial neonatal-infantile seizures
Benign neonatal-infantile epilepsy
SeLFNIE
gene_symbol: DNM1
disease_id: ORPHA:2382
disease_name: Lennox-Gastaut syndrome
gene_symbol: DNM1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
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: CACNA1A
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
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: FA2H
disease_id: ORPHA:329308
disease_name: Fatty acid hydroxylase-associated neurodegeneration
FAHN
gene_symbol: FA2H
disease_id: OMIM:612319
disease_name: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE
gene_symbol: FA2H
disease_id: ORPHA:171629
disease_name: Autosomal recessive spastic paraplegia type 35
SPG35
gene_symbol: C19orf12
disease_id: OMIM:614298
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
gene_symbol: ATP13A2
disease_id: ORPHA:306674
disease_name: Kufor-Rakeb syndrome
PARK9
gene_symbol: ATP13A2
disease_id: OMIM:617225
disease_name: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
gene_symbol: TLR3
disease_id: OMIM:613002
disease_name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 2
gene_symbol: SPG11
disease_id: ORPHA:2822
disease_name: Autosomal recessive spastic paraplegia type 11
Nakamura-Osame syndrome
SPG11
Spastic paraplegia-intellectual disability-thin corpus callosum syndrome
gene_symbol: SPG11
disease_id: OMIM:604360
disease_name: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE
gene_symbol: UBAP1
disease_id: OMIM:618418
disease_name: SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT
gene_symbol: VPS13A
disease_id: ORPHA:2388
disease_name: Choreoacanthocytosis
ChAc
Chorea-acanthocytosis
Levine-Critchley syndrome
gene_symbol: APTX
disease_id: OMIM:208920
disease_name: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
gene_symbol: TSPOAP1
disease_id: OMIM:620456
disease_name: DYSTONIA 22, ADULT-ONSET
gene_symbol: TSPOAP1
disease_id: OMIM:620453
disease_name: DYSTONIA 22, JUVENILE-ONSET
gene_symbol: KCNA2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: AP3B2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: ATP6V1A
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SLC38A3
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: FZR1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: KCNC2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: EEF1A2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: FBXO28
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: GABRB2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SYNGAP1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: GABRA5
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: GRIN2D
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: NUS1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CLTC
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: WWOX
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SZT2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: HCN1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: NECAP1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: PACS2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: AARS1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: AARS1
disease_id: OMIM:619661
disease_name: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2
gene_symbol: SCN8A
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: GABBR2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: GABRA2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: DALRD3
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CYFIP2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: NTRK2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: PARS2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CDK19
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: FGF12
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: PPP3CA
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: TRAK1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: GABRG2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: YWHAG
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: UBA5
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SCN3A
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CACNA2D1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CELF2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CACNA1B
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: ACTL6B
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: FOXG1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SLC1A2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: ATP1A2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: KCNB1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SLC13A5
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SLC13A5
disease_id: ORPHA:1946
disease_name: Amelocerebrohypohidrotic syndrome
Epilepsy-dementia-amelogenesis imperfecta syndrome
Kohlschütter-Tönz syndrome
gene_symbol: CNKSR2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: DHDDS
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SCARB2
disease_id: OMIM:254900
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE
gene_symbol: AP5Z1
disease_id: OMIM:613647
disease_name: SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE
gene_symbol: HEPACAM
disease_id: OMIM:613925
disease_name: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A
gene_symbol: HEPACAM
disease_id: ORPHA:2478
disease_name: Megalencephalic leukoencephalopathy with subcortical cysts
MLC
Megalencephalic leukodystrophy
Megalencephaly-cystic leukodystrophy syndrome
Vacuolating megalencephalic leukoencephalopathy with subcortical cysts
Van der Knaap syndrome
gene_symbol: PRNP
disease_id: ORPHA:356
disease_name: Gerstmann-Straussler-Scheinker syndrome
Subacute spongiform encephalopathy, Gerstmann-Straussler type
gene_symbol: HTRA1
disease_id: ORPHA:199354
disease_name: Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy
CARASIL
Maeda syndrome
gene_symbol: HTRA1
disease_id: OMIM:616779
disease_name: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2
gene_symbol: KARS1
disease_id: OMIM:619196
disease_name: DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY
gene_symbol: SLC7A6OS
disease_id: OMIM:619191
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC, 12
gene_symbol: SGPL1
disease_id: OMIM:617575
disease_name: NEPHROTIC SYNDROME, TYPE 14
gene_symbol: JAM2
disease_id: OMIM:618824
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE
gene_symbol: FUCA1
disease_id: OMIM:230000
disease_name: FUCOSIDOSIS
gene_symbol: MFN2
disease_id: OMIM:609260
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
gene_symbol: PDE10A
disease_id: OMIM:616922
disease_name: STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2
gene_symbol: NHLRC1
disease_id: ORPHA:501
disease_name: Lafora disease
EPM2
PME type 2
Progressive myoclonic epilepsy type 2
Progressive myoclonus epilepsy type 2
gene_symbol: EPM2A
disease_id: ORPHA:501
disease_name: Lafora disease
EPM2
PME type 2
Progressive myoclonic epilepsy type 2
Progressive myoclonus epilepsy type 2
gene_symbol: PANK2
disease_id: OMIM:234200
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1
gene_symbol: XPA
disease_id: OMIM:278700
disease_name: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A
gene_symbol: CNTNAP2
disease_id: ORPHA:163681
disease_name: CNTNAP2-related developmental and epileptic encephalopathy
CDFE syndrome
CDFES
CNTNAP2-related DEE
Cortical dysplasia-focal epilepsy syndrome
gene_symbol: TBK1
disease_id: OMIM:617900
disease_name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8
gene_symbol: MYORG
disease_id: OMIM:618317
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE
gene_symbol: MFSD8
disease_id: OMIM:610951
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 7
gene_symbol: TBP
disease_id: ORPHA:98759
disease_name: Spinocerebellar ataxia type 17
HDL4
Huntington disease-like 4
SCA17
gene_symbol: PLP1
disease_id: ORPHA:280229
disease_name: Pelizaeus-Merzbacher disease in female carriers
gene_symbol: PLP1
disease_id: OMIM:312080
disease_name: PELIZAEUS-MERZBACHER DISEASE
gene_symbol: WDR45
disease_id: OMIM:300894
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
gene_symbol: ASAH1
disease_id: ORPHA:2590
disease_name: Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Hereditary myoclonus-progressive distal muscular atrophy syndrome
Jankovic-Rivera syndrome
SMA-PME
gene_symbol: MLC1
disease_id: ORPHA:2478
disease_name: Megalencephalic leukoencephalopathy with subcortical cysts
MLC
Megalencephalic leukodystrophy
Megalencephaly-cystic leukodystrophy syndrome
Vacuolating megalencephalic leukoencephalopathy with subcortical cysts
Van der Knaap syndrome
gene_symbol: MMACHC
disease_id: ORPHA:79282
disease_name: Methylmalonic acidemia with homocystinuria, type cblC
CblC defect
Cobalamin C defect
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC
Methylmalonic aciduria with homocystinuria, type cblC
gene_symbol: GBA2
disease_id: OMIM:614409
disease_name: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
gene_symbol: NBN
disease_id: ORPHA:647
disease_name: Nijmegen breakage syndrome
AT V1
Ataxia-telangiectasia, variant 1
Berlin breakage syndrome
Immunodeficiency-microcephaly-chromosomal instability syndrome
Microcephaly-immunodeficiency-lymphoid malignancy syndrome
NBS
Seemanova syndrome type 2
gene_symbol: ROGDI
disease_id: ORPHA:1946
disease_name: Amelocerebrohypohidrotic syndrome
Epilepsy-dementia-amelogenesis imperfecta syndrome
Kohlschütter-Tönz syndrome
gene_symbol: SMPD1
disease_id: OMIM:607616
disease_name: NIEMANN-PICK DISEASE, TYPE B
gene_symbol: LIG3
disease_id: OMIM:619780
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE)
gene_symbol: CARS2
disease_id: OMIM:616672
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27
gene_symbol: CTC1
disease_id: OMIM:612199
disease_name: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
gene_symbol: CHMP2B
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: CHMP2B
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: PSEN1
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: PSEN1
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: TMEM106B
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: TMEM106B
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: TREM2
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: TREM2
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: VCP
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: VCP
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: KIF1C
disease_id: OMIM:611302
disease_name: SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE
gene_symbol: TMEM240
disease_id: OMIM:607454
disease_name: SPINOCEREBELLAR ATAXIA 21
gene_symbol: HMBS
disease_id: ORPHA:79276
disease_name: Acute intermittent porphyria
gene_symbol: PRDM8
disease_id: ORPHA:324290
disease_name: Early-onset Lafora body disease
gene_symbol: ERCC2
disease_id: OMIM:278730
disease_name: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D
gene_symbol: ARSA
disease_id: OMIM:250100
disease_name: METACHROMATIC LEUKODYSTROPHY
gene_symbol: UBQLN2
disease_id: OMIM:300857
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
gene_symbol: UBQLN2
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: TIA1
disease_id: OMIM:619133
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
gene_symbol: TARDBP
disease_id: OMIM:612069
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
gene_symbol: TARDBP
disease_id: ORPHA:275872
disease_name: Frontotemporal dementia with motor neuron disease
FTD-ALS
FTD-MND
Frontotemporal dementia with amyotrophic lateral sclerosis
gene_symbol: TARDBP
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: TUBA4A
disease_id: OMIM:616208
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
gene_symbol: FUS
disease_id: ORPHA:275872
disease_name: Frontotemporal dementia with motor neuron disease
FTD-ALS
FTD-MND
Frontotemporal dementia with amyotrophic lateral sclerosis
gene_symbol: FUS
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: HNRNPA1
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: HNRNPA1
disease_id: ORPHA:52430
disease_name: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
IBMPFD
Limb-girdle muscular dystrophy with Paget disease of bone
Pagetoid amyotrophic lateral sclerosis
Pagetoid neuroskeletal syndrome
gene_symbol: TAF15
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: PON2
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: VAPB
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: PRPH
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: GLT8D1
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: CFAP410
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: PPARGC1A
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: SOD1
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: OPTN
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: FIG4
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: PON1
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: PON3
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: NEFH
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: PFN1
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: ANG
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: GLE1
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: NEK1
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: DAO
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: UNC13A
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: CCNF
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: CCNF
disease_id: OMIM:619141
disease_name: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5
gene_symbol: HNRNPA2B1
disease_id: OMIM:615422
disease_name: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2
gene_symbol: HNRNPA2B1
disease_id: ORPHA:52430
disease_name: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
IBMPFD
Limb-girdle muscular dystrophy with Paget disease of bone
Pagetoid amyotrophic lateral sclerosis
Pagetoid neuroskeletal syndrome
gene_symbol: RBM28
disease_id: ORPHA:157954
disease_name: ANE syndrome
Alopecia-progressive neurological defect-endocrinopathy syndrome
gene_symbol: RBM28
disease_id: OMIM:612079
disease_name: ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME
gene_symbol: TK2
disease_id: ORPHA:254875
disease_name: Mitochondrial DNA depletion syndrome, myopathic form
mtDNA depletion syndrome, myopathic form
gene_symbol: CLN5
disease_id: OMIM:256731
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 5
gene_symbol: MECP2
disease_id: OMIM:312750
disease_name: RETT SYNDROME
gene_symbol: FRRS1L
disease_id: ORPHA:725
disease_name: Developmental and epileptic encephalopathy with spike-wave activation in sleep
CSWS
CSWSS syndrome
Continuous spikes and waves during sleep
Continuous spikes and waves during slow-wave sleep
DEE-SWAS
Epileptic encephalopathy with continuous spike-and-wave during slow sleep
Epileptic encephalopathy with spike-and wave activation in sleep
gene_symbol: GRIN2A
disease_id: ORPHA:725
disease_name: Developmental and epileptic encephalopathy with spike-wave activation in sleep
CSWS
CSWSS syndrome
Continuous spikes and waves during sleep
Continuous spikes and waves during slow-wave sleep
DEE-SWAS
Epileptic encephalopathy with continuous spike-and-wave during slow sleep
Epileptic encephalopathy with spike-and wave activation in sleep
gene_symbol: HGSNAT
disease_id: OMIM:252930
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IIIC
gene_symbol: PLEKHG4
disease_id: ORPHA:98765
disease_name: Spinocerebellar ataxia type 4
SCA4
gene_symbol: CTNS
disease_id: OMIM:219800
disease_name: CYSTINOSIS, NEPHROPATHIC
gene_symbol: TINF2
disease_id: OMIM:268130
disease_name: REVESZ SYNDROME
gene_symbol: SLC13A3
disease_id: OMIM:618384
disease_name: LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE
gene_symbol: HSD17B10
disease_id: OMIM:300438
disease_name: HSD10 MITOCHONDRIAL DISEASE
gene_symbol: SLC39A14
disease_id: OMIM:617013
disease_name: HYPERMANGANESEMIA WITH DYSTONIA 2
gene_symbol: RNU4ATAC
disease_id: OMIM:210710
disease_name: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
gene_symbol: GCH1
disease_id: OMIM:233910
disease_name: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B
gene_symbol: SLC2A1
disease_id: ORPHA:2131
disease_name: Alternating hemiplegia of childhood
AHC
gene_symbol: RHOBTB2
disease_id: ORPHA:2131
disease_name: Alternating hemiplegia of childhood
AHC
gene_symbol: SLC1A3
disease_id: ORPHA:2131
disease_name: Alternating hemiplegia of childhood
AHC
gene_symbol: MTFMT
disease_id: OMIM:614947
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
gene_symbol: IARS2
disease_id: ORPHA:506
disease_name: Leigh syndrome
Infantile subacute necrotizing encephalopathy
Leigh disease
gene_symbol: LRPPRC
disease_id: ORPHA:70472
disease_name: Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
COX deficiency, French-Canadian type
Cytochrome C oxidase deficiency, French-Canadian type
Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type
Leigh syndrome, French-Canadian type
Leigh syndrome, Saguenay-Lac-Saint-Jean type
SLSJ-COX deficiency
gene_symbol: HIBCH
disease_id: ORPHA:88639
disease_name: Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
HIBCH deficiency
Methacrylic aciduria
Valine metabolic defect
gene_symbol: EIF2B5
disease_id: OMIM:620315
disease_name: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 5
gene_symbol: RAB27A
disease_id: OMIM:607624
disease_name: GRISCELLI SYNDROME, TYPE 2
gene_symbol: PTS
disease_id: OMIM:261640
disease_name: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A
gene_symbol: CYC1
disease_id: OMIM:615453
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6
gene_symbol: MICOS13
disease_id: OMIM:618329
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37
gene_symbol: MCOLN1
disease_id: OMIM:252650
disease_name: MUCOLIPIDOSIS IV
gene_symbol: HNF4A
disease_id: ORPHA:263455
disease_name: Congenital hyperinsulinism due to HNF4A deficiency
Hyperinsulinemic hypoglycemia due to HNF4A deficiency
gene_symbol: QDPR
disease_id: OMIM:261630
disease_name: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C
gene_symbol: TIMMDC1
disease_id: OMIM:618251
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31
gene_symbol: NDUFA6
disease_id: OMIM:618253
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33
gene_symbol: IDUA
disease_id: OMIM:607014
disease_name: HURLER SYNDROME
gene_symbol: NAGLU
disease_id: OMIM:252920
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IIIB
gene_symbol: COG2
disease_id: ORPHA:435934
disease_name: COG2-CDG
COG2-related congenital disorder of glycosylation
gene_symbol: KMT2A
disease_id: ORPHA:319182
disease_name: Wiedemann-Steiner syndrome
Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome
gene_symbol: PPT1
disease_id: OMIM:256730
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 1
gene_symbol: RNASEH1
disease_id: ORPHA:329336
disease_name: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Adult-onset CPEO with mitochondrial myopathy
gene_symbol: PRRT2
disease_id: ORPHA:306
disease_name: Self-limited infantile epilepsy
BFIE
BFIS
Benign familial infantile convulsions
Benign familial infantile epilepsy
Benign familial infantile seizures
SeLIE
gene_symbol: KCNQ3
disease_id: ORPHA:306
disease_name: Self-limited infantile epilepsy
BFIE
BFIS
Benign familial infantile convulsions
Benign familial infantile epilepsy
Benign familial infantile seizures
SeLIE
gene_symbol: GALK1
disease_id: ORPHA:79237
disease_name: Galactokinase deficiency
GALK deficiency
GALK-D
Galactokinase deficiency galactosemia
Galactosemia type 2
gene_symbol: CREBBP
disease_id: ORPHA:353277
disease_name: Rubinstein-Taybi syndrome due to CREBBP mutations
gene_symbol: CREBBP
disease_id: ORPHA:353281
disease_name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
gene_symbol: EP300
disease_id: ORPHA:353284
disease_name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
gene_symbol: APOL2
disease_id: OMIM:181500
disease_name: SCHIZOPHRENIA
gene_symbol: DAOA
disease_id: OMIM:181500
disease_name: SCHIZOPHRENIA
gene_symbol: HTR2A
disease_id: OMIM:181500
disease_name: SCHIZOPHRENIA
gene_symbol: SYN2
disease_id: OMIM:181500
disease_name: SCHIZOPHRENIA
gene_symbol: DRD3
disease_id: OMIM:181500
disease_name: SCHIZOPHRENIA
gene_symbol: DISC2
disease_id: OMIM:181500
disease_name: SCHIZOPHRENIA
gene_symbol: RTN4R
disease_id: OMIM:181500
disease_name: SCHIZOPHRENIA
gene_symbol: APOL4
disease_id: OMIM:181500
disease_name: SCHIZOPHRENIA
gene_symbol: CHI3L1
disease_id: OMIM:181500
disease_name: SCHIZOPHRENIA
gene_symbol: PMPCA
disease_id: ORPHA:1170
disease_name: Autosomal recessive cerebelloparenchymal disorder type 3
Autosomal recessive spinocerebellar ataxia type 2
SCAR2
gene_symbol: ABAT
disease_id: ORPHA:2066
disease_name: Gamma-aminobutyric acid transaminase deficiency
GABA transaminase deficiency
gene_symbol: GLB1
disease_id: OMIM:230600
disease_name: GM1-GANGLIOSIDOSIS, TYPE II
gene_symbol: SUMF1
disease_id: ORPHA:585
disease_name: Multiple sulfatase deficiency
Austin disease
MSD
Mucosulfatidosis
gene_symbol: SUMF1
disease_id: OMIM:272200
disease_name: MULTIPLE SULFATASE DEFICIENCY