Phenotype: Vertical supranuclear gaze palsy (HP:0000511)
Associated genes and diseases:
gene_symbol: SPG7
disease_id: OMIM:607259
disease_name: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
gene_symbol: NPC2
disease_id: OMIM:607625
disease_name: NIEMANN-PICK DISEASE, TYPE C2
gene_symbol: PLP1
disease_id: OMIM:312080
disease_name: PELIZAEUS-MERZBACHER DISEASE
gene_symbol: NAXE
disease_id: OMIM:617186
disease_name: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1
gene_symbol: EIF2AK2
disease_id: OMIM:619687
disease_name: DYSTONIA 33
gene_symbol: ATP13A2
disease_id: ORPHA:306674
disease_name: Kufor-Rakeb syndrome
PARK9
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:240085
disease_name: Progressive supranuclear palsy-predominant parkinsonism syndrome
PSP-p
PSP-parkinsonism
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: SQSTM1
disease_id: OMIM:617145
disease_name: NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET
gene_symbol: NOP56
disease_id: OMIM:614153
disease_name: SPINOCEREBELLAR ATAXIA 36
gene_symbol: MTFMT
disease_id: OMIM:618248
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27
gene_symbol: ACOX2
disease_id: OMIM:617308
disease_name: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6
gene_symbol: PLA2G6
disease_id: OMIM:612953
disease_name: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
gene_symbol: ALDH4A1
disease_id: ORPHA:79101
disease_name: Hyperprolinemia type 2
Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency
gene_symbol: NPC1
disease_id: OMIM:257220
disease_name: NIEMANN-PICK DISEASE, TYPE C1
gene_symbol: DCTN1
disease_id: OMIM:168605
disease_name: PERRY SYNDROME
gene_symbol: POLR3A
disease_id: OMIM:607694
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
gene_symbol: POLR3A
disease_id: ORPHA:447896
disease_name: Tremor-ataxia-central hypomyelination syndrome
TACH syndrome
gene_symbol: POLR3B
disease_id: OMIM:607694
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
gene_symbol: CCDC88C
disease_id: ORPHA:423275
disease_name: Spinocerebellar ataxia type 40
SCA40
gene_symbol: PIGT
disease_id: ORPHA:369837
disease_name: Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
Congenital disorder of glycosylation due to PIGT deficiency
MCAHS type 3
Multiple congenital anomalies-hypotonia-seizures syndrome type 3
PIGT-CDG
gene_symbol: FTL
disease_id: ORPHA:157846
disease_name: Neuroferritinopathy
Adult basal ganglia disease
Ferritin-related neurodegeneration
Hereditary ferritinopathy
gene_symbol: NKX6-2
disease_id: OMIM:617560
disease_name: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY
gene_symbol: NEK9
disease_id: OMIM:614262
disease_name: ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY
gene_symbol: AGTPBP1
disease_id: OMIM:618276
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY
gene_symbol: MUSK
disease_id: OMIM:616325
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
gene_symbol: AASS
disease_id: ORPHA:2203
disease_name: Hyperlysinemia
Hyperlysinemia type I
Lysine alpha-ketoglutarate reductase deficiency
gene_symbol: VPS13A
disease_id: ORPHA:2388
disease_name: Choreoacanthocytosis
ChAc
Chorea-acanthocytosis
Levine-Critchley syndrome
gene_symbol: KCNC3
disease_id: ORPHA:98768
disease_name: Spinocerebellar ataxia type 13
SCA13
gene_symbol: ACBD6
disease_id: OMIM:620785
disease_name: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES
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: POLG
disease_id: ORPHA:70595
disease_name: Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
SANDO
gene_symbol: TWNK
disease_id: ORPHA:70595
disease_name: Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
SANDO
gene_symbol: ATXN1
disease_id: ORPHA:98755
disease_name: Spinocerebellar ataxia type 1
SCA1