VCP - valosin containing protein Gene

Also Known as p97; TERA; CDC48; FTDALS6

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 7415

About VCP

Cytogenetic location: 9p13.3 Genomic coordinates (GRCh38): 9:35,056,064-35,072,625 (from NCBI)

This gene has 36 transcripts (splice variants), 229 orthologues, 5 paralogues and is associated with 12 phenotypes. Ubiquitous expression in appendix (RPKM 60.7), thyroid (RPKM 56.9) and 25 other tissues.

Summary

This gene encodes a member of the AAA ATPase family of proteins. The encoded protein plays a role in protein degradation, intracellular membrane fusion, DNA repair and replication, regulation of the cell cycle, and activation of the NF-kappa B pathway. This protein forms a homohexameric complex that interacts with a variety of cofactors and extracts ubiquitinated proteins from lipid membranes or protein complexes. Mutations in this gene cause IBMPFD (inclusion body myopathy with paget disease of bone and frontotemporal dementia), ALS (amyotrophic lateral sclerosis) and Charcot-Marie-Tooth disease in human patients. [provided by RefSeq, Aug 2017]

VCP Products (3)

mRNA Protein Name
NM_001354927.2 NP_001341856.1 transitional endoplasmic reticulum ATPase isoform 2
NM_007126.5 NP_009057.1 transitional endoplasmic reticulum ATPase isoform 1
NM_001354928.2 NP_001341857.1 transitional endoplasmic reticulum ATPase isoform 2
Molecular Function GO Annotation Evidence References Source
enables ATP hydrolysis activity IDA
IDA: Inferred from direct assay
24129571 GOA
enables ATP hydrolysis activity IMP
IMP: Inferred from mutant phenotype
23349634 GOA
enables BAT3 complex binding IPI
IPI: Inferred from physical interaction
21636303 GOA
enables K48-linked polyubiquitin modification-dependent protein binding IDA
IDA: Inferred from direct assay
37816088 GOA
enables deubiquitinase activator activity IDA
IDA: Inferred from direct assay
22970133 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
20512113 GOA
enables polyubiquitin modification-dependent protein binding IDA
IDA: Inferred from direct assay
11483959 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
9452483 GOA
enables protein domain specific binding IPI
IPI: Inferred from physical interaction
15362974 GOA
enables protein phosphatase binding IPI
IPI: Inferred from physical interaction
10364224 GOA
enables ubiquitin protein ligase binding IPI
IPI: Inferred from physical interaction
22590560 GOA
enables ubiquitin-like protein ligase binding IPI
IPI: Inferred from physical interaction
16186510 GOA
enables ubiquitin-modified protein reader activity IDA
IDA: Inferred from direct assay
29033132 GOA
enables ubiquitin-specific protease binding IPI
IPI: Inferred from physical interaction
22590560 GOA
Biological Process GO Annotation Evidence References Source
involved in DNA damage response IDA
IDA: Inferred from direct assay
16140914 GOA
involved in ERAD pathway IDA
IDA: Inferred from direct assay
17872946 GOA
involved in ERAD pathway IMP
IMP: Inferred from mutant phenotype
20104022 GOA
involved in NADH metabolic process IMP
IMP: Inferred from mutant phenotype
23498975 GOA
involved in autophagosome maturation IMP
IMP: Inferred from mutant phenotype
20104022 GOA
involved in autophagy IMP
IMP: Inferred from mutant phenotype
20104022 GOA
involved in cellular response to arsenite ion IMP
IMP: Inferred from mutant phenotype
29804830 GOA
involved in cellular response to heat IMP
IMP: Inferred from mutant phenotype
29804830 GOA
involved in cellular response to misfolded protein IMP
IMP: Inferred from mutant phenotype
24089527 GOA
involved in cytoplasm protein quality control IDA
IDA: Inferred from direct assay
29033132 GOA
involved in double-strand break repair IDA
IDA: Inferred from direct assay
10855792 GOA
involved in endoplasmic reticulum stress-induced pre-emptive quality control IMP
IMP: Inferred from mutant phenotype
26565908 GOA
involved in endosome to lysosome transport via multivesicular body sorting pathway IMP
IMP: Inferred from mutant phenotype
21822278 GOA
involved in flavin adenine dinucleotide catabolic process IMP
IMP: Inferred from mutant phenotype
23498975 GOA
involved in macroautophagy IMP
IMP: Inferred from mutant phenotype
27753622 GOA
involved in negative regulation of hippo signaling IGI
IGI: Inferred from genetic interaction
38710747 GOA
involved in negative regulation of protein localization to chromatin IDA
IDA: Inferred from direct assay
35013556 GOA
involved in negative regulation of smoothened signaling pathway IMP
IMP: Inferred from mutant phenotype
23747190 GOA
involved in positive regulation of ATP biosynthetic process IMP
IMP: Inferred from mutant phenotype
23498975 GOA
involved in positive regulation of Lys63-specific deubiquitinase activity IDA
IDA: Inferred from direct assay
22970133 GOA
involved in positive regulation of canonical Wnt signaling pathway IDA
IDA: Inferred from direct assay
28689657 GOA
involved in positive regulation of mitochondrial membrane potential IMP
IMP: Inferred from mutant phenotype
23498975 GOA
involved in positive regulation of non-canonical NF-kappaB signal transduction IDA
IDA: Inferred from direct assay
37816088 GOA
involved in positive regulation of oxidative phosphorylation IMP
IMP: Inferred from mutant phenotype
23498975 GOA
involved in positive regulation of proteasomal ubiquitin-dependent protein catabolic process IDA
IDA: Inferred from direct assay
9452483 GOA
involved in positive regulation of protein K63-linked deubiquitination IDA
IDA: Inferred from direct assay
22970133 GOA
involved in positive regulation of protein catabolic process IDA
IDA: Inferred from direct assay
11483959 GOA
involved in positive regulation of protein-containing complex assembly IDA
IDA: Inferred from direct assay
18775313 GOA
involved in proteasomal protein catabolic process IMP
IMP: Inferred from mutant phenotype
26565908 GOA
involved in proteasome-mediated ubiquitin-dependent protein catabolic process IDA
IDA: Inferred from direct assay
31387940 GOA
involved in proteasome-mediated ubiquitin-dependent protein catabolic process IMP
IMP: Inferred from mutant phenotype
20104022 GOA
involved in protein ubiquitination IDA
IDA: Inferred from direct assay
22120668 GOA
involved in protein-DNA covalent cross-linking repair IDA
IDA: Inferred from direct assay
32152270 GOA
involved in regulation of aerobic respiration IMP
IMP: Inferred from mutant phenotype
23498975 GOA
involved in regulation of protein localization to chromatin IDA
IDA: Inferred from direct assay
32152270 GOA
involved in retrograde protein transport, ER to cytosol IDA
IDA: Inferred from direct assay
15215856 GOA
involved in retrograde protein transport, ER to cytosol IMP
IMP: Inferred from mutant phenotype
25660456 GOA
involved in stress granule disassembly IDA
IDA: Inferred from direct assay
36692217 GOA
involved in stress granule disassembly IMP
IMP: Inferred from mutant phenotype
29804830 GOA
involved in translesion synthesis IMP
IMP: Inferred from mutant phenotype
23042605 GOA
involved in viral genome replication IMP
IMP: Inferred from mutant phenotype
22379090 GOA
Cellular Component GO Annotation Evidence References Source
part of Derlin-1 retrotranslocation complex IDA
IDA: Inferred from direct assay
15215856 GOA
part of VCP-NPL4-UFD1 AAA ATPase complex IPI
IPI: Inferred from physical interaction
20414249 GOA
part of VCP-NSFL1C complex IPI
IPI: Inferred from physical interaction
21645854 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
27753622 GOA
located in cytoplasmic stress granule IDA
IDA: Inferred from direct assay
29804830 GOA
located in cytosol IDA
IDA: Inferred from direct assay
10855792 GOA
is active in cytosol IMP
IMP: Inferred from mutant phenotype
38710747 GOA
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
15215856 GOA
is active in endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
24129571 GOA
located in endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
17872946 GOA
located in lipid droplet IDA
IDA: Inferred from direct assay
23297223 GOA
located in nucleus IDA
IDA: Inferred from direct assay
10855792 GOA
located in perinuclear region of cytoplasm IDA
IDA: Inferred from direct assay
16275660 GOA
part of proteasome complex IDA
IDA: Inferred from direct assay
9452483 GOA
part of protein-containing complex IDA
IDA: Inferred from direct assay
21822278 GOA
located in site of double-strand break IDA
IDA: Inferred from direct assay
22120668 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

VCP Protein Structure

CDC48_N

CDC48_N: Cell division protein 48 (CDC48), N-terminal domain (25 - 107)

CDC48_2

CDC48_2: Cell division protein 48 (CDC48), domain 2 (126 - 189)

AAA

AAA: ATPase family associated with various cellular activities (AAA) (241 - 370)

AAA

AAA: ATPase family associated with various cellular activities (AAA) (514 - 647)

Vps4_C

Vps4_C: Vps4 C terminal oligomerisation domain (719 - 760)

  • 0
  • 200
  • 400
  • 600
  • 806 a.a.
Protein Preferred Names Protein Names

transitional endoplasmic reticulum ATPase

  • 15S Mg(2+)-ATPase p97 subunit

  • TER ATPase

VCP Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
VCP P55072 ATG5 Homo sapiens A9UGY9 25416956
Intra
VCP P55072 VCF1 Homo sapiens Q969W3 32296183
Intra
VCP P55072 VCF1 Homo sapiens Q969W3 25416956
Intra
VCP P55072 VCF1 Homo sapiens Q969W3 33961781
Intra
VCP P55072 AMFR Homo sapiens Q9UKV5 16275660
Intra
VCP P55072 AMFR Homo sapiens Q9UKV5 26712280
Intra
VCP P55072 AMFR Homo sapiens Q9UKV5 16275660
Intra
VCP P55072 AMFR Homo sapiens Q9UKV5
IF
16275660
Intra
VCP P55072 PTPN3 Homo sapiens P26045 10364224
Intra
VCP P55072 FAF2 Homo sapiens Q96CS3 35271311
Intra
VCP P55072 FAF2 Homo sapiens Q96CS3 29997244
Intra
VCP P55072 UBXN1 Homo sapiens Q04323 25416956
Intra
VCP P55072 METTL17 Homo sapiens Q9H7H0-2 32296183
Intra
VCP P55072 FCHSD2 Homo sapiens O94868
Y2H
18654987
Cross
VCP P55072 Cul1 Mus musculus Q9WTX6 22466964
Intra
VCP P55072 UBXN2B Homo sapiens Q14CS0 35271311
Intra
VCP P55072 UBXN2B Homo sapiens Q14CS0 32296183
Intra
VCP P55072 UBXN2B Homo sapiens Q14CS0 29997244
Intra
VCP P55072 UBXN2B Homo sapiens Q14CS0 25416956
Intra
VCP P55072 UBXN7 Homo sapiens O94888 18775313
Intra
VCP P55072 UBXN2A Homo sapiens P68543
Y2H
21900206
Intra
VCP P55072 UBXN2A Homo sapiens P68543 32296183
Intra
VCP P55072 UBXN2A Homo sapiens P68543 35271311
Intra
VCP P55072 UBXN2A Homo sapiens P68543 29997244
Intra
VCP P55072 ASPSCR1 Homo sapiens Q9BZE9 25416956
Intra
VCP P55072 ASPSCR1 Homo sapiens Q9BZE9 25416956
Intra
VCP P55072 ASPSCR1 Homo sapiens Q9BZE9 26496610
Intra
VCP P55072 ASPSCR1 Homo sapiens Q9BZE9
Y2H
21900206
Intra
VCP P55072 ASPSCR1 Homo sapiens Q9BZE9 29997244
Intra
VCP P55072 UBXN8 Homo sapiens O00124 35271311
Intra
VCP P55072 UBXN8 Homo sapiens O00124 29997244
Intra
VCP P55072 UBXN8 Homo sapiens O00124 29997244
Intra
VCP P55072 UBXN6 Homo sapiens Q9BZV1 35271311
Intra
VCP P55072 UBXN6 Homo sapiens Q9BZV1 29997244
Intra
VCP P55072 UBXN6 Homo sapiens Q9BZV1 18775313
Intra
VCP P55072 UBXN6 Homo sapiens Q9BZV1
Y2H
18656546
Intra
VCP P55072 UBXN6 Homo sapiens Q9BZV1 29997244
Intra
VCP P55072 UBXN6 Homo sapiens Q9BZV1
GMS
18656546
Intra
VCP P55072 UBXN10 Homo sapiens Q96LJ8 29997244
Intra
VCP P55072 PLAA Homo sapiens Q9Y263 32296183
Intra
VCP P55072 PLAA Homo sapiens Q9Y263 35271311
Intra
VCP P55072 PLAA Homo sapiens Q9Y263 25416956
Intra
VCP P55072 UFD1 Homo sapiens Q92890 26712280
Intra
VCP P55072 UFD1 Homo sapiens Q92890 18775313
Intra
VCP P55072 UFD1 Homo sapiens Q92890 26712280
Intra
VCP P55072 UFD1 Homo sapiens Q92890 20414249
Intra
VCP P55072 UFD1 Homo sapiens Q92890 35271311
Intra
VCP P55072 NPLOC4 Homo sapiens Q8TAT6 35271311
Intra
VCP P55072 NPLOC4 Homo sapiens Q8TAT6 18775313
Intra
VCP P55072 NPLOC4 Homo sapiens Q8TAT6 20414249
Intra
VCP P55072 NPLOC4 Homo sapiens Q8TAT6 20414249
Intra
VCP P55072 NPLOC4 Homo sapiens Q8TAT6 33961781
Intra
VCP P55072 RNF125 Homo sapiens Q96EQ8 26471729
Intra
VCP P55072 YOD1 Homo sapiens Q5VVQ6 32296183
Intra
VCP P55072 XAF1 Homo sapiens Q6GPH4 32296183
Intra
VCP P55072 YWHAZ Homo sapiens P63104 15161933
Intra
VCP P55072 YWHAZ Homo sapiens P63104 21988832
Intra
VCP P55072 NSFL1C Homo sapiens Q9UNZ2 20414249
Intra
VCP P55072 NSFL1C Homo sapiens Q9UNZ2
ITC
21645854
Intra
VCP P55072 NSFL1C Homo sapiens Q9UNZ2 20414249
Intra
VCP P55072 NSFL1C Homo sapiens Q9UNZ2
ITC
26712280
Intra
VCP P55072 NSFL1C Homo sapiens Q9UNZ2 26496610
Intra
VCP P55072 NSFL1C Homo sapiens Q9UNZ2 25416956
Intra
VCP P55072 NSFL1C Homo sapiens Q9UNZ2 29997244
Intra
VCP P55072 NSFL1C Homo sapiens Q9UNZ2 25416956
Intra
VCP P55072 NSFL1C Homo sapiens Q9UNZ2 33961781
Intra
VCP P55072 NSFL1C Homo sapiens Q9UNZ2 16275660
Intra
VCP P55072 NSFL1C Homo sapiens Q9UNZ2 29997244
Intra
VCP P55072 PSMA1 Homo sapiens P25786 25416956
Intra
VCP P55072 PSMA1 Homo sapiens P25786 25416956
Intra
VCP P55072 RNF8 Homo sapiens O76064 25416956
Intra
VCP P55072 GRB2 Homo sapiens P62993 25814554
Intra
VCP P55072 GRB2 Homo sapiens P62993 25814554
Intra
VCP P55072 CUL4A Homo sapiens Q13619 22466964
Intra
VCP P55072 UBXN4 Homo sapiens Q92575 18775313
Intra
VCP P55072 UBXN4 Homo sapiens Q92575 35271311
Intra
VCP P55072 UBXN4 Homo sapiens Q92575 29997244
Intra
VCP P55072 LNX1 Homo sapiens Q8TBB1 32296183
Intra
VCP P55072 LNX1 Homo sapiens Q8TBB1 29892012
Intra
VCP P55072 LNX1 Homo sapiens Q8TBB1 25416956
Intra
VCP P55072 DTNB Homo sapiens O60941 25416956
Intra
VCP P55072 DTNB Homo sapiens O60941 31515488
Intra
VCP P55072 NTAQ1 Homo sapiens Q96HA8 25416956
Intra
VCP P55072 NTAQ1 Homo sapiens Q96HA8 32296183
Intra
VCP P55072 NTAQ1 Homo sapiens Q96HA8 25416956
Intra
VCP P55072 CEP19 Homo sapiens Q96LK0 25416956
Intra
VCP P55072 CEP19 Homo sapiens Q96LK0 32296183
Intra
VCP P55072 CEP19 Homo sapiens Q96LK0 25416956
Intra
VCP P55072 UBOX5 Homo sapiens O94941 25416956
Intra
VCP P55072 UBOX5 Homo sapiens O94941 25416956
Intra
VCP P55072 UBE4B Homo sapiens B1AQ61 20414249
Intra
VCP P55072 ATXN3 Homo sapiens P54252-1 16525503
Intra
VCP P55072 ATXN3 Homo sapiens P54252-1 20414249
Intra
VCP P55072 ATXN3 Homo sapiens P54252-1 16525503
Intra
VCP P55072 ATXN3 Homo sapiens P54252-1 12944474
Intra
VCP P55072 ATXN3 Homo sapiens P54252-1 20414249
Cross: Cross-species interaction Intra: Intraspecies interaction

VCP Antibodies

Cat. No. Product Name Application Reactivity
HY-P82630 VCP Antibody (YA2375) WB, IHC-F, IHC-P, ICC/IF, IP Human, Mouse, Rat
HY-P82630A VCP Antibody (YA2375)(PBS only) WB, IHC-F, IHC-P, ICC/IF, IP Human, Mouse, Rat
HY-P84401 VCP Antibody (YA4098) WB, ICC/IF, FC, ELISA Human, Mouse
HY-P84401A VCP Antibody (YA4098)(PBS only) WB, ICC/IF, FC, ELISA Human, Mouse

Related Diseases

Diseases Alias
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
  • Ibmpfd

  • Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia

  • Pagetoid Amyotrophic Lateral Sclerosis

  • Pagetoid Neuroskeletal Syndrome

  • Inclusion Body Myopathy With Paget Disease Of Bone And/Or Frontotemporal Dementia

  • Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone And/Or Frontotemporal Dementia

  • Multisystem Proteinopathy

  • Limb-Girdle Muscular Dystrophy With Paget Disease Of Bone

  • Inclusion Body Myopathy With Paget'S Disease Of Bone And Frontotemporal Dementia

  • Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dement

  • Lower Motor Neuron Degeneration With Paget-Like Bone Disease

  • Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone

  • Myopathy, Inclusion Body, With Early-Onset Paget Disease And Frontotemporal Dementia

Movement Disease
  • Movement Disorders

  • Movement Disorder

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
  • FTDALS1

  • Frontotemporal Dementia And/Or Motor Neuron Disease

  • Ftdmnd

  • Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia

  • Alsftd

  • Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis

  • Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-1

  • Frontotemporal Dementia With Motor Neuron Disease

  • Ftdals

  • Ftd-Als

  • Ftd-Mnd

  • Frontotemporal Dementia With Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis With Frontotemporal Dementia 1

  • Amyotrophic Lateral Sclerosis/Frontotemporal Dementia

  • Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia 1

  • Frontotemporal Lobar Degeneration

  • Grn-Related Frontotemporal Dementia

Myofibrillar Myopathy
  • Desmin Related Myopathy

  • Myotilinopathy

  • Myopathy, Myofibrillar

  • Alpha Beta Crystallinopathy

  • Desmin Storage Myopathy

  • Desminopathy

  • Filaminopathy

  • Protein Surplus Myopathy

  • Zaspopathy

  • Myofibrillar Myopathies

  • Myopathy, Myofibrillar, Desmin-Related

  • Myopathy, Desmin Storage

  • Mfm - [Myofibrillar Myopathy]

Parkinson Disease, Late-Onset
  • Parkinson Disease

  • Parkinson'S Disease

  • PD

  • PARK

  • Parkinson Disease, Susceptibility To

  • Late Onset Parkinson'S Disease

  • Late Onset Parkinson Disease

  • Paralysis Agitans

  • Primary Parkinsonism

  • Idiopathic Parkinson Disease

  • Parkinson'S

  • Parkinson Disease, Late-Onset, Susceptibility To

  • Parkinson Disease, Age Of Onset, Modifier

  • Lewy Body Parkinson Disease

  • Idiopathic Parkinson'S Disease

  • Pd - [Parkinson Disease]

  • Parkinson Disease Nos

  • Parkinson, Nos

  • Primary Parkinson Disease

Nervous System Disease
  • Abnormality Of The Nervous System

  • Nervous System Diseases

  • Nervous System Disorder

Amyotrophic Lateral Sclerosis 1
  • Amyotrophic Lateral Sclerosis

  • ALS

  • Lou Gehrig Disease

  • Amyotrophic Lateral Sclerosis Type 1

  • Charcot Disease

  • ALS1

  • Amyotrophic Lateral Sclerosis, Susceptibility To

  • Fals

  • Lou Gehrig'S Disease

  • Mnd

  • Motor Neuron Disease

  • Familial Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis 1, Familial

  • Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

  • Motor Neuron Disease, Bulbar

  • Motor Neurone Disease

  • Amyotrophic Lateral Sclerosis With Dementia

  • Dementia With Amyotrophic Lateral Sclerosis

  • Motor Neuron Disease, Amyotrophic Lateral Sclerosis

  • Sclerosis, Lateral, Amyotrophic

  • Sclerosis, Lateral, Amyotrophic, Type 1

  • Amyotrophic Sclerosis

  • Als - [Amyotrophic Lateral Sclerosis]

  • Wasting Palsy

  • Amyotrophic Paralysis

  • Amyotrophy Lateral Sclerosis

  • Wasting Paralysis

  • Spinal Progressive Amyotrophy

  • Progressive Atrophic Paralysis

Amyotrophic Lateral Sclerosis Type 15
  • Amyotrophic Lateral Sclerosis 15, With Or Without Frontotemporal Dementia

  • Als15

  • Amyotrophic Lateral Sclerosis 15

Supranuclear Palsy, Progressive, 1
  • Progressive Supranuclear Palsy

  • Steele-Richardson-Olszewski Syndrome

  • Supranuclear Palsy, Progressive

  • Psp

  • Progressive Supranuclear Ophthalmoplegia

  • PSNP1

  • Familial Progressive Supranuclear Palsy

  • Richardson'S Syndrome

  • Psp Syndrome

  • Progressive Supranuclear Palsy 1

  • Supranuclear Palsy Progressive

  • Ophthalmoplegia, Supranuclear, Progressive

  • Steele-Richardson-Olszewksi Syndrome

Amyotrophic Lateral Sclerosis 16, Juvenile
  • Amyotrophic Lateral Sclerosis Type 16

  • ALS16

  • Amyotrophic Lateral Sclerosis 16

  • Sclerosis, Lateral, Amyotrophic, Type 16, Juvenile

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone With Or Without Frontotemporal Dementia 1
  • Ibmpfd1

  • Msp1

  • Multisystem Proteinopathy 1

Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone With Or Without Frontotemporal Dementia 2
  • Ibmpfd2

  • Msp2

  • Multisystem Proteinopathy 2

Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
  • ALS6

  • Amyotrophic Lateral Sclerosis 6, With Or Without Frontotemporal Dementia

  • Amyotrophic Lateral Sclerosis 6 Without Frontotemporal Dementia

  • Amyotrophic Lateral Sclerosis 6

Muscle Tissue Disease
Dysgraphia
  • Agraphia

Werner Syndrome
  • Werner'S Syndrome

  • WRN

  • Adult Progeria

  • Ws

  • Adult Premature Ageing Syndrome

  • Adult Premature Aging Syndrome

  • Werners Syndrome

Aphasia
Dementia
  • Dementias

  • Presenile Dementia

  • Alzheimer Type Dementia

  • Alzheimer Sclerosis

  • Alzheimer Disease Dementia

  • Alzheimer Dementia

  • Primary Degenerative Alzheimer Type Dementia

  • End Stage Alzheimer'S Dementia

  • Alzheimer'S Type Atypical Dementia

  • Alzheimer Type Presenile Dementia

  • Early Onset Alzheimer Dementia

  • Dementia In Alzheimer Disease Type 2

  • Dementia In Alzheimer Disease With Early Onset

  • Early Onset Alzheimer Type Dementia, Uncomplicated

  • Primary Degenerative Alzheimer Type Dementia, Early Onset

  • Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated

  • Alzheimer Disease Dementia With Early Onset

  • Presenile Sclerosis

  • Presenile Brain Sclerosis

  • Presenile Alzheimer Brain Sclerosis

  • Late Onset Alzheimer Dementia

  • Dementia In Alzheimer Disease Type 1

  • Dementia In Alzheimer Disease With Late Onset

  • Primary Degenerative Alzheimer Type Dementia, Late Onset

  • Sdat - [Senile Dementia, Alzheimer Type]

  • Alzheimer Disease Dementia With Late Onset

  • Late Onset Alzheimer Brain Sclerosis

  • Senile Alzheimer Brain Disease

  • Senile Alzheimer Brain Sclerosis

  • Senile Primary Degenerative Alzheimer Type Dementia

  • Senile Dementia Of The Alzheimer Type

  • Arteriosclerotic Dementia

  • Strategic-Infarct Dementia

  • Post Stroke Dementia

  • Vascular Cognitive Impairment

  • Vascular Dementia

  • Dementia Of The Lewy Body Type

  • Dementia With Lewy Bodies

  • Sdlt - [Senile Dementia Of The Lewy Body Type]

  • Senile Dementia Of The Lewy Body Type

  • Alcohol-Related Dementia

  • Alcoholic Dementia Nos

  • Alcohol-Induced Dementia

  • Alcoholic Brain Syndrome

  • Chronic Alcoholic Brain Syndrome

  • Alcohol Dementia

  • Late Onset Alcoholic Psychosis

  • Residual And Late-Onset Alcohol-Induced Psychotic Disorder

  • Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder

  • Late-Onset Psychoactive Substance-Induced Psychotic Disorder

  • Inhalant Dementia

  • Volatile Solvents Dementia

  • Dementia In Paralysis Agitans

  • Pdd - [Parkinson Disease Dementia]

  • Dementia Syndrome Of Parkinson Disease

  • Dementia In Parkinson Disease

  • Parkinson Related Dementia

  • Dementia In Huntington Chorea

  • Hiv - [Human Immunodeficiency Virus] Dementia

  • Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex

  • Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex

  • Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex

  • Aids Related Dementia

  • Dementia Due To Niacin Deficiency

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
  • Ftd3

  • Frontotemporal Dementia, Chromosome 3-Linked

  • Amyotrophic Lateral Sclerosis, Chmp2b-Related

  • Chromosome 3-Linked Frontotemporal Dementia

  • FTDALS7

  • Chmp2b-Related Frontotemporal Dementia

  • Amyotrophic Lateral Sclerosis 17, Formerly

  • Als17, Formerly

  • Amyotrophic Lateral Sclerosis Type 17

  • Dtm1

  • Ftd-3

  • Ftd-Chmp2b

  • Als17

  • Amyotrophic Lateral Sclerosis 17

  • Sclerosis, Lateral, Amyotrophic, Type 17

  • Dementia, Frontotemporal, Chromosome 3-Linked

Prosopagnosia
Cystic Fibrosis
  • Mucoviscidosis

  • CF

  • Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

  • Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

  • Cystic Fibrosis Lung Disease, Modifier Of

  • Cystic Fibrosis Of Pancreas

  • Fibrocystic Disease Of Pancreas

  • Cf - [Cystic Fibrosis]

  • Cystic Fibrosis Nos

  • Fibrocystic Disease

  • Fibrocystic Disease Of The Pancreas

  • Mucoviscidosis Of Pancreas

  • Nonproliferative Fibrocystic Disease

  • Pancreatic Cystic Fibrosis

Myositis
  • Idiopathic Inflammatory Myopathy

  • Idiopathic Inflammatory Myositis

  • Iim

  • Imm

  • Idiopathic Inflammatory Myopathies

  • Myopathy, Familial Idiopathic Inflammatory

  • Inflammatory Disorder Of Muscle

  • Idiopathic Inflammatory Myopathy, Familial

  • Inflammatory Myopathy, Idiopathic

  • Myopathies Idiopathic Inflammatory

  • Familial Idiopathic Inflammatory Myopathy

Muscular Dystrophy
  • Muscular Dystrophies

  • Congenital Md

  • Congenital Muscular Dystrophy

  • Cmd

  • Mdc

  • Dystrophy, Muscular

  • Gower'S Muscular Dystrophy

  • Progressive Musclular Dystrophy

  • Pseudohypertrophic Atrophy

  • Pseudohypertrophic Muscle Paralysis

  • Pseudohypertrophic Muscular Atrophy

  • Pseudohypertrophic Muscular Dystrophy

  • Pseudohypertrophic Paralysis

  • Pseudomuscular Hypertrophy

Writing Disorder
Nominal Aphasia
  • Anomia

  • Anomic Aphasia

Tooth Disease
  • Tooth Diseases

  • Teeth Disease

  • Tooth Disorders

Motor Neuron Disease
  • Anterior Horn Cell Disease

  • Motor Neuron Diseases

  • Mnd - [Motor Neurone Disease]

  • Lou Gehrig Disease

  • Creeping Palsy

  • Creeping Paralysis

  • Bulbar Motor Neuron Disease

  • Bulbar Syndrome

  • Anterior Horn Cell Disorder

  • Hereditary Motor Neuron Disease

Dementia, Lewy Body
  • Lewy Body Dementia

  • Lewy Body Disease

  • Diffuse Lewy Body Disease

  • Dementia With Lewy Bodies

  • DLB

  • Autosomal Dominant Diffuse Lewy Body Disease

  • Cortical Lewy Body Disease

  • Dementia, Lewy Body, Susceptibility To

  • Lewy Body Dementia, Susceptibility To

  • Senile Dementia Of The Lewy Body Type

  • Dementia Of The Lewy Body Type

  • Lbd

  • Diffuse Lewy Body Disease With Gaze Palsy

  • Dysphasic Dementia Hereditary

  • Lewy Body Type Senile Dementia

  • Lewy Body Variant Of Alzheimer Disease

  • Lewy Bodies

  • Lewy Body

  • Dlbd - [Diffuse Lewy Body Disease]

  • Clbd - [Cortical Lewy Body Disease]

Mammary Paget'S Disease
  • Paget'S Disease

  • Mammary Paget Disease

  • Paget'S Disease Of The Breast

  • Paget Disease Of The Breast

  • Paget'S Disease Of The Nipple

  • Paget'S Disease, Mammary

  • Paget Cell Neoplasm

  • Paget Disease Of The Nipple

  • Pagets Disease Mammary

  • Osteitis Deformans

Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
  • IBMPFD1

  • Multisystem Proteinopathy 1

  • Pagetoid Amyotrophic Lateral Sclerosis

  • Pagetoid Neuroskeletal Syndrome

  • Lower Motor Neuron Degeneration With Paget-Like Bone Disease

  • Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia

  • Msp1

  • Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone

  • Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia 1

  • Limb-Girdle Muscular Dystrophy With Paget Disease Of Bone

  • Inclusion Body Myopathy Without Early-Onset Paget Disease And Frontotemporal Dementia 1

Lateral Sclerosis
  • Primary Lateral Sclerosis

  • Adult-Onset Primary Lateral Sclerosis

  • Adult-Onset Pls

  • Motor Neuron Disease

  • Pls

  • Pls - [Primary Lateral Sclerosis]

  • Lateral Spinal Sclerosis

  • Lateral Complete Paralysis

  • Lateral Incomplete Paralysis

  • Lateral Paralysis

Cerebellar Disease
  • Cerebellar Diseases

  • Cerebellar Dysfunction

  • Cerebellar Abnormality

  • Cerebellar Disorders

Autism
  • Autistic Disorder

  • Autism Susceptibility 1

  • Childhood Autism

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Kanner'S Syndrome

  • Autistic

Autosomal Dominant Cerebellar Ataxia
  • Spinocerebellar Ataxia

  • Adca

  • Pierre Marie Cerebellar Ataxia

  • Ataxia, Spinocerebellar

  • Sca

  • Autosomal Dominant Spinocerebellar Ataxia

  • Spinocerebellar Ataxias

Spinal And Bulbar Muscular Atrophy, X-Linked 1
  • Kennedy Disease

  • Sbma

  • Spinal And Bulbar Muscular Atrophy

  • Kennedy'S Disease

  • X-Linked Spinal And Bulbar Muscular Atrophy

  • SMAX1

  • Kd

  • Kennedy Spinal And Bulbar Muscular Atrophy

  • Spinobulbar Muscular Atrophy

  • Bulbospinal Muscular Atrophy, X-Linked

  • Bulbospinal Neuronopathy, X-Linked Recessive

  • Xbsn

  • Spinal And Bulbar Muscular Atrophy Of Kennedy

  • Bulbospinal Muscular Atrophy

  • X-Linked Bulbospinal Amyotrophy

  • Bulbo-Spinal Atrophy, X-Linked

  • Spinal Bulbar Muscular Atrophy

  • X-Linked Bulbo-Spinal Atrophy

  • X-Linked Spinal Bulbar Muscular Atrophy

  • X-Linked Bsma

  • X-Linked Bulbospinal Muscular Atrophy

  • Spinal And Bulbar Muscular Atrophy X-Linked 1

  • Bulbospinal Muscular Atrophy X-Linked

  • Bulbospinal Neuronopathy X-Linked Recessive

  • Kennedy Disease)

  • Kennedy Syndrome

  • Atrophy, Muscular, Spinal And Bulbar, Kennedy Type

  • Atrophy, Muscular, Spinobulbar

  • Bulbospinal Neuronopathy

Machado-Joseph Disease
  • SCA3

  • MJD

  • Spinocerebellar Ataxia 3

  • Azorean Disease

  • Spinocerebellar Ataxia Type 3

  • Azorean Neurologic Disease

  • Spinopontine Atrophy

  • Nigrospinodentatal Degeneration

  • Spinocerebellar Atrophy

  • Spinocerebellar Atrophy Iii

  • Spinocerebellar Atrophy Type 3

  • Azorean Ataxia

  • Azorean Disease Of The Nervous System

  • Machado Disease

  • Nigro-Spino-Dentatal Degeneration With Nuclear Ophthalmoplegia

  • Disease, Machado-Joseph

  • Ataxia, Spinocerebellar

Alzheimer Disease 7
  • Ad7

  • Alzheimer'S Disease 7

  • Alzheimer Disease, Familial, 7

  • Alzheimer Disease-7

  • Alzheimer Disease, Familial 7

Associative Agnosia
Charcot-Marie-Tooth Disease
  • Cmt

  • Hmsn

  • Hereditary Motor And Sensory Neuropathy

  • Pma

  • Cmt - Charcot-Marie-Tooth Disease

  • Charcot Marie Tooth Disease

  • Charcot-Marie-Tooth Hereditary Neuropathy

  • Charcot-Marie-Tooth Syndrome

  • Peroneal Muscular Atrophy

  • Hereditary Motor And Sensory Neuropathies

Neuronal Ceroid Lipofuscinosis
  • Hereditary Ceroid Lipofuscinosis

  • Batten Disease

  • Ncl

  • Neuronal Ceroid-Lipofuscinoses

  • Lipofuscinosis, Ceroid, Neuronal

  • Juvenile Neuronal Ceroid Lipofuscinosis

  • Cerebromacular Dystrophy

  • Cerebromacular Degeneration

  • Ceroid-Lipofuscinosis

  • Ncl - [Neuronal Ceroid Lipofuscinosis]

  • Amaurotic Familial Idiocy

  • Amaurotic Idiocy

  • Amaurotic Idiot

  • Neuronal Lipofuscinosis

  • Pigmentary Retinal Lipoid Neuronal Heredodegeneration

Cortical Deafness
Agraphia
Hereditary Spastic Paraplegia
  • Familial Spastic Paraplegia

  • Hereditary Spastic Paraparesis

  • Strumpell-Lorrain Disease

  • Hsp

  • Spg

  • Strümpell-Lorrain Disease

  • Spastic Paraplegia, Hereditary

  • French Settlement Disease

  • Strumpell-Lorrain Syndrome

  • Fsp

  • Familial Spastic Paraparesis

  • Spastic Paraplegia, Familial

  • Spastic Paraplegia Hereditary

  • Spastic Paraplegia 3, Autosomal Dominant

  • Spastic Paraparesis

  • Hereditary Spastic Paralysis

  • Familial Spastic Paralysis

  • Hereditary Spastic Ataxia

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
  • FTDALS6

  • Amyotrophic Lateral Sclerosis 14 With Or Without Frontotemporal Dementia, Formerly

  • Als14, Formerly

  • Als14

  • Amyotrophic Lateral Sclerosis 14, With Or Without Frontotemporal Dementia

  • Sclerosis, Lateral, Amyotrophic, Type 14, With/Without Frontotemporal Dementia

Amyotrophic Lateral Sclerosis Type 14
  • Als14

  • Amyotrophic Lateral Sclerosis 14

  • Amyotrophic Lateral Sclerosis, With Or Without Frontotemporal Dementia

  • Amyotrophic Lateral Sclerosis 14 With Or Without Frontotemporal Dementia

Myopathy
  • Muscular Diseases

  • Myopathies

Spastic Paraplegia-Paget Disease Of Bone Syndrome
Primary Biliary Cholangitis
  • Primary Biliary Cirrhosis

  • Biliary Liver Cirrhosis

  • Chronic Nonsuppurative Destructive Cholangitis

  • Familial Primary Biliary Cirrhosis

  • Pbc

  • Hanot Syndrome

  • Cholestatic Cirrhosis

  • Biliary Cirrhosis Primary

  • Liver Cirrhosis, Biliary

  • Hanot'S Cirrhosis

  • Biliary Cirrhosis

  • Pericholangiolic Biliary Cirrhosis

  • Tannhauser-Magendantz Syndrome

  • Hanot-Rossle Syndrome

  • Hypertrophic Cirrhosis

  • Todd Cirrhosis

  • Hanot Cirrhosis

  • Charcot Cirrhosis

  • Mahon-Tannhauser Syndrome

  • Toxic Cirrhosis

  • Hypertrophic Biliary Cirrhosis

  • Monolobular Cirrhosis

  • Unilobar Cirrhosis

  • Xanthomatous Biliary Cirrhosis

Frontotemporal Dementia
  • Pallidopontonigral Degeneration

  • Frontotemporal Lobar Degeneration

  • Semantic Dementia

  • FTD

  • Frontotemporal Lobe Dementia

  • Multiple System Tauopathy With Presenile Dementia

  • Dementia, Frontotemporal

  • Frontotemporal Dementia With Parkinsonism

  • Mstd

  • Frontotemporal Lobar Degeneration With Tau Inclusions

  • Ftld With Tau Inclusions

  • Dementia, Frontotemporal, With Parkinsonism

  • Fldem

  • Ftdp17

  • Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex

  • Ddpac

  • Wilhelmsen-Lynch Disease

  • Wld

  • Ppnd

  • Dementia, Frontotemporal, With Or Without Parkinsonism

  • Semantic Primary Progressive Aphasia

  • Semantic Variant Ppa

  • Wilhemsen-Lynch Disease

  • Frontotemporal Dementia-Amyotrophic Lateral Sclerosis

  • Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17

  • Ftd-Als

  • Ftld

  • Pick Complex

  • Pick Disease Of The Brain

  • Frontotemporal Dementia With Parkinsonism-17

  • Grn-Related Frontotemporal Dementia

  • Frontotemporal Dementia With Motor Neuron Disease

  • Dementia In Fronto-Temporal Lobar Degeneration

  • Ftd - [Frontotemporal Dementia]

  • Temple Dementia

  • Frontal Lobe Dementia

Progressive Non-Fluent Aphasia
  • Non-Fluent Variant Ppa

  • Non-Fluent Primary Progressive Aphasia

  • Agramatic Variant Of Ppa

  • Agramatic Variant Of Primary Progressive Aphasia

  • Progressive Nonfluent Aphasia

  • Primary Progressive Non Fluent Aphasia

  • Primary Progressive Nonfluent Aphasia

Progressive Muscular Atrophy
  • Progressive Spinal Muscular Atrophy

  • Pure Progressive Muscular Atrophy

  • Pma

  • Hereditary Spinal Muscle Atrophy

  • Pma - [Progressive Muscular Atrophy]

  • Progressive Muscle Atrophy

  • Progressive Spinal Muscle Atrophy

  • Duchenne-Aran Atrophy

  • Duchenne-Aran Muscle Atrophy

  • Hereditary Sma - [Spinal Muscle Atrophy]

Alzheimer Disease, Familial, 1
  • Alzheimer Disease

  • Alzheimer'S Disease

  • Presenile And Senile Dementia

  • AD1

  • Alzheimer Disease, Susceptibility To

  • Alzheimer Disease, Late-Onset, Susceptibility To

  • Alzheimer Disease 1, Familial

  • AD

  • Familial Alzheimer Disease

  • Alzheimer Disease, Late-Onset

  • Alzheimers Dementia

  • Alzheimer Dementia

  • Alzheimer Sclerosis

  • Alzheimer Syndrome

  • Alzheimer-Type Dementia

  • Dat

  • Primary Senile Degenerative Dementia

  • Sdat

  • Alzheimer Disease 1

  • Autosomal Dominant Alzheimer Disease

  • Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

  • Late Onset Alzheimer Disease

  • Alzheimers Disease

  • Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

  • Late-Onset Alzheimers Disease

  • Alzheimer'S Disease Pathway Kegg

  • Dementia Due To Alzheimer'S Disease

  • Alzheimer Disease Type 1

  • Alzheimers

Muscular Disease
Nonaka Myopathy
  • Gne Myopathy

  • Hibm

  • Distal Myopathy With Rimmed Vacuoles

  • Hereditary Inclusion Body Myopathy

  • Ibm2

  • Inclusion Body Myopathy, Quadriceps-Sparing

  • Qsm

  • Dmrv

  • Distal Myopathy, Nonaka Type

  • Inclusion Body Myopathy 2

  • Inclusion Body Myopathy, Autosomal Recessive

  • NM

  • Nonaka Distal Myopathy

  • Myopathy, Distal, With Or Without Rimmed Vacuoles

  • Inclusion Body Myopathy, Hereditary, Autosomal Recessive

  • Inclusion Body Myopathy Type 2

  • Quadriceps-Sparing Myopathy

  • Quadriceps Sparing Myopathy

  • Rimmed Vacuole Myopathy

  • Inclusion Body Myopathy 2, Autosomal Recessive, Formerly

  • Ibm2, Formerly

  • Hibm2

  • Hereditary Inclusion Body Myopathy Type 2

  • Inclusion Body Myopathy 2, Autosomal Recessive

  • Myopathy, Distal, With Rimmed Vacuoles

  • Inclusion Body Myopathy Autosomal Recessive

  • Myopathy, Inclusion Body, Type 2

  • Myopathy, Nonaka

Amyotrophic Lateral Sclerosis Type 6
  • Amyotrophic Lateral Sclerosis 6, Autosomal Recessive

  • Als6

  • Amyotrophic Lateral Sclerosis 6, With Or Without Frontotemporal Dementia

  • Autosomal Recessive Amyotrophic Lateral Sclerosis 6

  • Sclerosis, Lateral, Amyotrophic, Type Type 6

  • Amyotrophic Lateral Sclerosis 6

Spinocerebellar Ataxia 2
  • Spinocerebellar Ataxia Type 2

  • SCA2

  • Amyotrophic Lateral Sclerosis 13

  • Spinocerebellar Degeneration With Slow Eye Movements

  • SDSEM

  • Spinocerebellar Atrophy Ii

  • Olivopontocerebellar Atrophy Ii

  • Opca2

  • Cerebellar Degeneration With Slow Eye Movements

  • Wadia-Swami Syndrome

  • Amyotrophic Lateral Sclerosis Type 13

  • ALS13

  • Olivopontocerebellar Atrophy Holguin Type

  • Spinocerebellar Ataxia Cuban Type

  • Olivopontocerebellar Atrophy, Holguin Type

  • Spinocerebellar Ataxia, Cuban Type

  • Amyotrophic Lateral Sclerosis, Susceptibility To, 13

  • Olivopontocerebellar Atrophy 2

  • Sca 2

  • Spinocerebellar Ataxia With Slow Eye Movements

  • Spinocerebellar Atrophy 2

  • Wadia Swami Syndrome

  • Opca Ii

  • Spinocerebellar Ataxia-2

  • Ataxia, Spinocerebellar, Type 2

Charcot-Marie-Tooth Disease, Axonal, Type 2e
  • Charcot-Marie-Tooth Disease Type 2

  • CMT2E

  • CMT2S

  • CMT2Y

  • Charcot-Marie-Tooth Disease Type 2e

  • Charcot-Marie-Tooth Disease Type 2y

  • Charcot-Marie-Tooth Disease Axonal Type 2s

  • Charcot-Marie-Tooth Disease, Axonal, Type 2s

  • Charcot-Marie-Tooth Disease, Type 2e

  • Hereditary Motor And Sensory Neuropathy Type 2

  • Charcot-Marie-Tooth Neuropathy, Type 2s

  • Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s

  • Charcot-Marie-Tooth Disease, Axonal, Type 2y

  • Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y

  • Charcot-Marie-Tooth Neuropathy, Type 2y

  • Charcot-Marie-Tooth Disease, Type 2y

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e

  • Charcot-Marie-Tooth Neuropathy Type 2e

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation

  • Cmt2 Due To Vcp Mutation

  • Charcot-Marie-Tooth Disease Type 2s

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2

  • Autosomal Dominant Axonal Charcot-Marie-Tooth Disease

  • Cmt2

  • Charcot-Marie-Tooth Neuropathy, Type 2e

  • Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type

  • Hereditary Motor And Sensory Neuropathy Okinawa Type

  • Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y

  • Charcot-Marie-Tooth Neuropathy Type 2y

  • Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s

  • Charcot-Marie-Tooth Neuropathy Type 2s

  • Charcot-Marie-Tooth Type 2

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y

  • Charcot-Marie-Tooth Disease 2e

  • Charcot-Marie-Tooth Disease Axonal Type 2e

  • Charcot-Marie-Tooth Disease Neuronal Type 2e

  • Charcot-Marie-Tooth Disease 2s

  • Charcot-Marie-Tooth Neuropathy Axonal Type 2s

  • Charcot-Marie-Tooth Disease 2y

  • Charcot-Marie-Tooth Disease, Type 2

  • Hereditary Motor And Sensory-Neuropathy Type Ii

Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
  • Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like

  • Scd-Eds

  • EDSSPD3

  • Ehlers-Danlos Syndrome Spondylodysplastic Type 3

  • Ehlers-Danlos Syndrome, Spondylocheirodysplastic Type

  • Slc39a13-Related Spondylodysplastic Ehlers-Danlos Syndrome

  • Slc39a13-Related Speds

  • Slc39a13-Related Spondylodysplastic Eds

  • Spondylocheirodysplastic Ehlers-Danlos Syndrome

  • Speds-Slc39a13

  • Ehlers-Danlos Syndrome-Like Spondylocheirodysplasia

  • Ehlers-Danlos Syndrome, Spondylodysplastic, Type 3

Neuromuscular Disease
  • Neuromuscular Diseases

  • Neuromuscular Disorders

  • Neuromuscular Disorder

Breast Adenocarcinoma
  • Mammary Adenocarcinoma

  • Adenocarcinoma Of Breast

Adult-Onset Distal Myopathy Due To Vcp Mutation
Familial Expansile Osteolysis
  • FEO

  • Mccabe Disease

  • Osteolysis, Familial Expansile

  • Polyostotic Osteolytic Dysplasia, Hereditary Expansile

  • Hepod

  • Expansile Osteolysis, Familial

  • Eof

  • Hereditary Expansile Polyostotic Osteolytic Dysplasia

Pick Disease Of Brain
  • Pick Disease

  • Pick Disease Of The Brain

  • Lobar Atrophy Of Brain

  • Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions

  • Pick'S Disease

  • Behavioral Variant Of Frontotemporal Dementia

  • Dementia In Pick'S Disease

  • Lobar Atrophy Of The Brain

  • Bvftd

  • Bv-Ftd

  • PIDB

  • Picks Disease

Paget'S Disease Of Bone
  • Osteitis Deformans

  • Paget Disease Of Bone

  • Osseous Paget'S Disease

  • Paget Disease Of Bone, Familial

  • Bone Paget Disease

  • Familial Paget'S Disease Of Bone

  • Paget'S Bone Disease

  • Familial Paget Disease Of Bone

  • Paget Disease, Bone

  • Pdb

  • Pagets Bone Disease

Speech And Communication Disorders
  • Language Disorder

  • Communication Disorder

  • Language Disorders

  • Communication Disorders

  • Speech Language Disorder

  • Speech-Language Disorder

  • Communication Impairment

  • Speech And Language Disorder

Multisystem Proteinopathy
Perry Syndrome
  • Parkinsonism With Alveolar Hypoventilation And Mental Depression

  • PERRYS

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus VCP VGNC VGNC:66933
Rattus norvegicus VCP RGD RGD:621595
Canis familiaris VCP VGNC VGNC:48243
Mus musculus VCP MGD MGI:99919
Bos taurus VCP VGNC VGNC:36780
Macaca mulatta VCP VGNC VGNC:78762
Others VCP NCBI