Phenotype: Difficulty climbing stairs (HP:0003551)
Associated genes and diseases:
gene_symbol: ACTA1
disease_id: ORPHA:97240
disease_name: Zebra body myopathy
gene_symbol: SGCG
disease_id: ORPHA:353
disease_name: Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
Autosomal recessive limb-girdle muscular dystrophy type 2C
Gamma-sarcoglycan-related LGMD R5
Gamma-sarcoglycanopathy
LGMD due to gamma-sarcoglycan deficiency
LGMD type 2C
LGMD2C
Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency
Limb-girdle muscular dystrophy type 2C
gene_symbol: BIN1
disease_id: ORPHA:169186
disease_name: Autosomal recessive centronuclear myopathy
AR-CNM
gene_symbol: SPEG
disease_id: ORPHA:169186
disease_name: Autosomal recessive centronuclear myopathy
AR-CNM
gene_symbol: RYR1
disease_id: ORPHA:169186
disease_name: Autosomal recessive centronuclear myopathy
AR-CNM
gene_symbol: TTN
disease_id: ORPHA:169186
disease_name: Autosomal recessive centronuclear myopathy
AR-CNM
gene_symbol: TTN
disease_id: OMIM:608807
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10
gene_symbol: TTN
disease_id: OMIM:611705
disease_name: SALIH MYOPATHY
gene_symbol: SLC25A4
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: POLG
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: POLG
disease_id: OMIM:258450
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
gene_symbol: POLG
disease_id: OMIM:607459
disease_name: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS
gene_symbol: TWNK
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: TWNK
disease_id: OMIM:607459
disease_name: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS
gene_symbol: POLG2
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: RRM2B
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: RRM2B
disease_id: ORPHA:329336
disease_name: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Adult-onset CPEO with mitochondrial myopathy
gene_symbol: POMT1
disease_id: OMIM:609308
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1
gene_symbol: POMT1
disease_id: ORPHA:86812
disease_name: POMT1-related limb-girdle muscular dystrophy R11
Autosomal recessive limb-girdle muscular dystrophy type 2K
LGMD type 2K
LGMD2K
Limb-girdle muscular dystrophy type 2K
Limb-girdle muscular dystrophy-intellectual disability syndrome
POMT1-related LGMD R11
gene_symbol: GMPPB
disease_id: OMIM:615350
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
gene_symbol: GMPPB
disease_id: ORPHA:353327
disease_name: Congenital myasthenic syndromes with glycosylation defect
gene_symbol: GMPPB
disease_id: ORPHA:363623
disease_name: GMPPB-related limb-girdle muscular dystrophy R19
Autosomal recessive limb-girdle muscular dystrophy type 2T
GMPPB-related LGMD R19
LGMD type 2T
LGMD2T
Limb-girdle muscular dystrophy type 2T
gene_symbol: LRIF1
disease_id: OMIM:619477
disease_name: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC
gene_symbol: DNA2
disease_id: OMIM:615156
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6
gene_symbol: VCP
disease_id: ORPHA:435387
disease_name: Autosomal dominant Charcot-Marie-Tooth disease type 2Y
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation
CMT2 due to VCP mutation
CMT2Y
gene_symbol: VCP
disease_id: OMIM:167320
disease_name: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 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: GAA
disease_id: OMIM:232300
disease_name: GLYCOGEN STORAGE DISEASE II
gene_symbol: DYSF
disease_id: OMIM:254130
disease_name: MIYOSHI MUSCULAR DYSTROPHY 1
gene_symbol: DYSF
disease_id: OMIM:253601
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2
gene_symbol: DYSF
disease_id: ORPHA:268
disease_name: Dysferlin-related limb-girdle muscular dystrophy R2
Autosomal recessive limb-girdle muscular dystrophy type 2B
Dysferlin-related LGMD R2
LGMD due to dysferlin deficiency
LGMD type 2B
LGMD2B
Limb-girdle muscular dystrophy due to dysferlin deficiency
Limb-girdle muscular dystrophy type 2B
gene_symbol: DYSF
disease_id: ORPHA:45448
disease_name: Miyoshi myopathy
gene_symbol: PYROXD1
disease_id: OMIM:617258
disease_name: MYOPATHY, MYOFIBRILLAR, 8
gene_symbol: DMD
disease_id: OMIM:310200
disease_name: MUSCULAR DYSTROPHY, DUCHENNE TYPE
gene_symbol: DMD
disease_id: ORPHA:98895
disease_name: Becker muscular dystrophy
BMD
Becker dystrophinopathy
gene_symbol: VMA21
disease_id: OMIM:310440
disease_name: MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY
gene_symbol: HADHB
disease_id: ORPHA:746
disease_name: Mitochondrial trifunctional protein deficiency
TFP deficiency
TFPD
gene_symbol: HADHA
disease_id: ORPHA:746
disease_name: Mitochondrial trifunctional protein deficiency
TFP deficiency
TFPD
gene_symbol: TNNT1
disease_id: OMIM:620389
disease_name: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT
gene_symbol: TNNT1
disease_id: OMIM:620386
disease_name: NEMALINE MYOPATHY 5B, AUTOSOMAL RECESSIVE, CHILDHOOD-ONSET
gene_symbol: SGCA
disease_id: ORPHA:62
disease_name: Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3
Alpha-sarcoglycan-related LGMD R3
Alpha-sarcoglycanopathy
Autosomal recessive limb-girdle muscular dystrophy type 2D
LGMD due to alpha-sarcoglycan deficiency
LGMD type 2D
LGMD2D
Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency
Limb-girdle muscular dystrophy type 2D
gene_symbol: DAG1
disease_id: OMIM:613818
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9
gene_symbol: DAG1
disease_id: ORPHA:280333
disease_name: Alpha-dystroglycan-related limb-girdle muscular dystrophy R16
Alpha-dystroglycan-related LGMD R16
Autosomal recessive limb-girdle muscular dystrophy type 2P
LGMD type 2P
LGMD2P
Limb-girdle muscular dystrophy type 2P
gene_symbol: DNAJB6
disease_id: OMIM:603511
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1
gene_symbol: DNAJB6
disease_id: ORPHA:34516
disease_name: DNAJB6-related limb-girdle muscular dystrophy D1
Autosomal dominant limb-girdle muscular dystrophy type 1D
DNAJB6-related LGMD D1
LGMD type 1D
LGMD1D
Limb-girdle muscular dystrophy type 1D
gene_symbol: LMNA
disease_id: OMIM:181350
disease_name: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT
gene_symbol: PLEC
disease_id: ORPHA:254361
disease_name: Plectin-related limb-girdle muscular dystrophy R17
Autosomal recessive limb-girdle muscular dystrophy type 2Q
LGMD type 2Q
LGMD2Q
Limb-girdle muscular dystrophy type 2Q
Plectin-related LGMD R17
gene_symbol: PLEC
disease_id: OMIM:613723
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17
gene_symbol: CAPN3
disease_id: ORPHA:267
disease_name: Calpain-3-related limb-girdle muscular dystrophy R1
Autosomal recessive limb-girdle muscular dystrophy type 2A
Calpain-3-related LGMD R1
LGMD type 2A
LGMD2A
Limb-girdle muscular dystrophy due to calpain deficiency
Limb-girdle muscular dystrophy type 2A
Primary calpainopathy
gene_symbol: POMK
disease_id: OMIM:616094
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12
gene_symbol: MYOT
disease_id: ORPHA:98911
disease_name: Distal myotilinopathy
gene_symbol: SNUPN
disease_id: OMIM:620793
disease_name: OMIM:620793
gene_symbol: RYR3
disease_id: OMIM:620310
disease_name: CONGENITAL MYOPATHY 20
gene_symbol: FKRP
disease_id: OMIM:607155
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5
gene_symbol: FKRP
disease_id: OMIM:606612
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5
gene_symbol: FKRP
disease_id: ORPHA:34515
disease_name: FKRP-related limb-girdle muscular dystrophy R9
Autosomal recessive limb-girdle muscular dystrophy type 2I
FKRP-related LGMD R9
LGMD due to FKRP deficiency
LGMD type 2I
LGMD2I
Limb-girdle muscular dystrophy due to FKRP deficiency
Limb-girdle muscular dystrophy type 2I
gene_symbol: GFPT1
disease_id: ORPHA:353327
disease_name: Congenital myasthenic syndromes with glycosylation defect
gene_symbol: DPAGT1
disease_id: ORPHA:353327
disease_name: Congenital myasthenic syndromes with glycosylation defect
gene_symbol: ALG2
disease_id: ORPHA:353327
disease_name: Congenital myasthenic syndromes with glycosylation defect
gene_symbol: ALG14
disease_id: ORPHA:353327
disease_name: Congenital myasthenic syndromes with glycosylation defect
gene_symbol: WDR62
disease_id: OMIM:604317
disease_name: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS
gene_symbol: SGCD
disease_id: OMIM:601287
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6
gene_symbol: TOR1AIP1
disease_id: OMIM:617072
disease_name: MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES
gene_symbol: TFG
disease_id: ORPHA:431329
disease_name: Autosomal recessive spastic paraplegia type 57
SPG57
Spastic paraplegia due to partial TFG deficiency
gene_symbol: FLNC
disease_id: ORPHA:171445
disease_name: Muscle filaminopathy
FLNC-associated myofibrillar myopathy
Filamin C-related filaminopathy
MFM5
gene_symbol: FLNC
disease_id: OMIM:609524
disease_name: MYOPATHY, MYOFIBRILLAR, 5
gene_symbol: MYPN
disease_id: ORPHA:171881
disease_name: Cap myopathy
Cap disease
gene_symbol: TPM2
disease_id: ORPHA:171881
disease_name: Cap myopathy
Cap disease
gene_symbol: TPM3
disease_id: ORPHA:171881
disease_name: Cap myopathy
Cap disease
gene_symbol: SPTAN1
disease_id: OMIM:620528
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11
gene_symbol: POMGNT1
disease_id: OMIM:613157
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3
gene_symbol: MEGF10
disease_id: OMIM:620249
disease_name: CONGENITAL MYOPATHY 10B, MILD VARIANT
gene_symbol: ADSS1
disease_id: ORPHA:482601
disease_name: Adenylosuccinate synthetase-like 1-related distal myopathy
ADSSL1-related distal myopathy
gene_symbol: MYH7
disease_id: OMIM:608358
disease_name: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT
gene_symbol: ANO5
disease_id: OMIM:613319
disease_name: MIYOSHI MUSCULAR DYSTROPHY 3
gene_symbol: MT-TE
disease_id: ORPHA:2596
disease_name: Myopathy and diabetes mellitus
gene_symbol: POMT2
disease_id: ORPHA:206559
disease_name: POMT2-related limb-girdle muscular dystrophy R14
Autosomal recessive limb-girdle muscular dystrophy type 2N
LGMD type 2N
LGMD2N
Limb-girdle muscular dystrophy type 2N
POMT2-related LGMD R14
gene_symbol: VAPB
disease_id: ORPHA:209335
disease_name: Autosomal dominant adult-onset proximal spinal muscular atrophy
Autosomal dominant adult-onset proximal SMA
Autosomal dominant late-onset spinal muscular atrophy, Finkel type
Finkel disease
SMAFK
gene_symbol: TCAP
disease_id: OMIM:601954
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 7
gene_symbol: LIPE
disease_id: OMIM:615980
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6
gene_symbol: COL6A1
disease_id: OMIM:158810
disease_name: BETHLEM MYOPATHY 1
gene_symbol: MIEF2
disease_id: OMIM:619024
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49
gene_symbol: KBTBD13
disease_id: OMIM:609273
disease_name: NEMALINE MYOPATHY 6
gene_symbol: PLEKHG5
disease_id: OMIM:611067
disease_name: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4
gene_symbol: LAMA2
disease_id: OMIM:618138
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23
gene_symbol: TNPO3
disease_id: OMIM:608423
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2
gene_symbol: LRP12
disease_id: OMIM:620452
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 28
gene_symbol: PHKA1
disease_id: ORPHA:715
disease_name: Glycogen storage disease due to muscle phosphorylase kinase deficiency
GSD due to muscle phosphorylase kinase deficiency
GSD type 9D
GSD type 9E
GSD type IXd
GSD type IXe
Glycogen storage disease type 9D
Glycogen storage disease type 9E
Glycogen storage disease type IXd
Glycogen storage disease type IXe
Glycogenosis due to muscle phosphorylase kinase deficiency
Glycogenosis type 9D
Glycogenosis type 9E
Glycogenosis type IXd
Glycogenosis type IXe
gene_symbol: PHKG1
disease_id: ORPHA:715
disease_name: Glycogen storage disease due to muscle phosphorylase kinase deficiency
GSD due to muscle phosphorylase kinase deficiency
GSD type 9D
GSD type 9E
GSD type IXd
GSD type IXe
Glycogen storage disease type 9D
Glycogen storage disease type 9E
Glycogen storage disease type IXd
Glycogen storage disease type IXe
Glycogenosis due to muscle phosphorylase kinase deficiency
Glycogenosis type 9D
Glycogenosis type 9E
Glycogenosis type IXd
Glycogenosis type IXe
gene_symbol: MFN2
disease_id: ORPHA:99947
disease_name: Autosomal dominant Charcot-Marie-Tooth disease type 2A2
CMT2A2