Phenotype: Fatigable weakness of swallowing muscles (HP:0030195)
Associated genes and diseases:
gene_symbol: MTM1
disease_id: ORPHA:596
disease_name: X-linked centronuclear myopathy
X-linked myotubular myopathy
XLCNM
XLMTM
gene_symbol: DKK1
disease_id: ORPHA:268882
disease_name: Arnold-Chiari malformation type I
Arnold-Chiari malformation type 1
Chiari malformation type 1
Chiari malformation type I
gene_symbol: COA8
disease_id: ORPHA:436271
disease_name: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
gene_symbol: OBSCN
disease_id: ORPHA:99845
disease_name: Genetic recurrent myoglobinuria
gene_symbol: LPIN1
disease_id: ORPHA:99845
disease_name: Genetic recurrent myoglobinuria
gene_symbol: MT-CO1
disease_id: ORPHA:99845
disease_name: Genetic recurrent myoglobinuria
gene_symbol: MT-CO3
disease_id: ORPHA:99845
disease_name: Genetic recurrent myoglobinuria
gene_symbol: CHMP2B
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: 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: SQSTM1
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: TBK1
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: DCTN1
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: MATR3
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: TREM2
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: VCP
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: TARDBP
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: UBQLN2
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: FUS
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: ATXN2
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: ERBB4
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: ANXA11
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: CHCHD10
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease