C9orf72 - C9orf72-SMCR8 complex subunit Gene

Also Known as ALSFTD; DENND9; FTDALS; DENNL72; FTDALS1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 203228

About C9orf72

Cytogenetic location: 9p21.2 Genomic coordinates (GRCh38): 9:27,546,546-27,573,866 (from NCBI)

This gene has 8 transcripts (splice variants), 207 orthologues and is associated with 7 phenotypes. Ubiquitous expression in appendix (RPKM 9.7), testis (RPKM 9.3) and 25 other tissues.

Summary

The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in Autophagy and endocytic transport. Expansion of a GGGGCC repeat from 2-22 copies to 700-1600 copies in the intronic sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients (PMID: 23393093). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2016]

C9orf72 Products (3)

mRNA Protein Name
NM_001256054.3 NP_001242983.1 guanine nucleotide exchange factor C9orf72 isoform a
NM_018325.5 NP_060795.1 guanine nucleotide exchange factor C9orf72 isoform a
NM_145005.7 NP_659442.2 guanine nucleotide exchange factor C9orf72 isoform b
Molecular Function GO Annotation Evidence References Source
enables GTPase activator activity IMP
IMP: Inferred from mutant phenotype
32303654 GOA
contributes to guanyl-nucleotide exchange factor activity IDA
IDA: Inferred from direct assay
27103069 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
21516116 GOA
enables small GTPase binding IDA
IDA: Inferred from direct assay
24549040 GOA
Biological Process GO Annotation Evidence References Source
involved in autophagy IMP
IMP: Inferred from mutant phenotype
24549040 GOA
involved in axon extension IMP
IMP: Inferred from mutant phenotype
27723745 GOA
involved in endocytosis IMP
IMP: Inferred from mutant phenotype
24549040 GOA
involved in negative regulation of protein phosphorylation IMP
IMP: Inferred from mutant phenotype
27723745 GOA
involved in positive regulation of macroautophagy IGI
IGI: Inferred from genetic interaction
27103069 GOA
involved in positive regulation of macroautophagy IMP
IMP: Inferred from mutant phenotype
27103069 GOA
involved in regulation of TORC1 signaling IMP
IMP: Inferred from mutant phenotype
27559131 GOA
involved in regulation of actin filament organization IMP
IMP: Inferred from mutant phenotype
27723745 GOA
involved in regulation of autophagosome assembly IMP
IMP: Inferred from mutant phenotype
27334615 GOA
involved in regulation of autophagy IMP
IMP: Inferred from mutant phenotype
27103069 GOA
involved in stress granule assembly IMP
IMP: Inferred from mutant phenotype
27037575 GOA
Cellular Component GO Annotation Evidence References Source
part of Atg1/ULK1 kinase complex IDA
IDA: Inferred from direct assay
27193190 GOA
located in P-body IDA
IDA: Inferred from direct assay
27037575 GOA
located in autophagosome IDA
IDA: Inferred from direct assay
24549040 GOA
located in axonal growth cone IDA
IDA: Inferred from direct assay
27723745 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
27037575 GOA
located in cytoplasmic stress granule IDA
IDA: Inferred from direct assay
27037575 GOA
located in dendrite IDA
IDA: Inferred from direct assay
26174152 GOA
located in endosome IDA
IDA: Inferred from direct assay
24549040 GOA
located in extracellular space IDA
IDA: Inferred from direct assay
24549040 GOA
part of guanyl-nucleotide exchange factor complex IDA
IDA: Inferred from direct assay
27103069 GOA
part of guanyl-nucleotide exchange factor complex IPI
IPI: Inferred from physical interaction
29950492 GOA
located in lysosome IDA
IDA: Inferred from direct assay
24549040 GOA
located in main axon IDA
IDA: Inferred from direct assay
27723745 GOA
located in nuclear membrane IDA
IDA: Inferred from direct assay
26174152 GOA
located in nucleus IDA
IDA: Inferred from direct assay
24549040 GOA
located in perikaryon IDA
IDA: Inferred from direct assay
26174152 GOA
is active in presynaptic cytosol IDA
IDA: Inferred from direct assay
30075745 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

C9orf72 Protein Structure

C9orf72-like

C9orf72-like: C9orf72-like protein family (60 - 325)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 481 a.a.
Protein Preferred Names Protein Names

guanine nucleotide exchange factor C9orf72

  • guanine nucleotide exchange C9orf72

C9orf72 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
C9orf72 Q96LT7 TRIM74 Homo sapiens Q86UV6-2 32296183
Intra
C9orf72 Q96LT7 TRIM74 Homo sapiens Q86UV6-2 32296183
Intra
C9orf72 Q96LT7 EIF2B2 Homo sapiens Q53XC2 25416956
Intra
C9orf72 Q96LT7 EIF2B2 Homo sapiens Q53XC2 25416956
Intra
C9orf72 Q96LT7 EIF2B2 Homo sapiens Q9BPX4 25416956
Intra
C9orf72 Q96LT7 SYN3 Homo sapiens Q17R54 32296183
Intra
C9orf72 Q96LT7 SYN3 Homo sapiens Q17R54 32296183
Intra
C9orf72 Q96LT7 VRTN Homo sapiens Q9H8Y1 32296183
Intra
C9orf72 Q96LT7 VRTN Homo sapiens Q9H8Y1 32296183
Intra
C9orf72 Q96LT7 VRTN Homo sapiens Q9H8Y1 32296183
Intra
C9orf72 Q96LT7 SMCR8 Homo sapiens Q8TEV9 27103069
Intra
C9orf72 Q96LT7 SMCR8 Homo sapiens Q8TEV9 27103069
Intra
C9orf72 Q96LT7 SMCR8 Homo sapiens Q8TEV9 33961781
Intra
C9orf72 Q96LT7 SMCR8 Homo sapiens Q8TEV9 32296183
Intra
C9orf72 Q96LT7 SMCR8 Homo sapiens Q8TEV9 27107012
Intra
C9orf72 Q96LT7 SMCR8 Homo sapiens Q8TEV9 32296183
Intra
C9orf72 Q96LT7 REL Homo sapiens Q04864 25416956
Intra
C9orf72 Q96LT7 REL Homo sapiens Q04864 25416956
Intra
C9orf72 Q96LT7 POP7 Homo sapiens O75817 32296183
Intra
C9orf72 Q96LT7 POP7 Homo sapiens O75817 32296183
Intra
C9orf72 Q96LT7 NMI Homo sapiens Q13287 25416956
Intra
C9orf72 Q96LT7 NMI Homo sapiens Q13287 25416956
Intra
C9orf72 Q96LT7 NMI Homo sapiens Q13287 25416956
Intra
C9orf72 Q96LT7 EIF2B2 Homo sapiens P49770 32296183
Intra
C9orf72 Q96LT7 EIF2B2 Homo sapiens P49770 32296183
Intra
C9orf72 Q96LT7 HMG20A Homo sapiens Q9NP66 32296183
Intra
C9orf72 Q96LT7 HMG20A Homo sapiens Q9NP66 32296183
Intra
C9orf72 Q96LT7 HMG20A Homo sapiens Q9NP66 32296183
Intra
C9orf72 Q96LT7 CRX Homo sapiens O43186 25416956
Intra
C9orf72 Q96LT7 CRX Homo sapiens O43186 25416956
Intra
C9orf72 Q96LT7 COIL Homo sapiens P38432 32296183
Intra
C9orf72 Q96LT7 COIL Homo sapiens P38432 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

C9orf72 Antibodies

Cat. No. Product Name Application Reactivity
HY-P84926 C9orf72 Antibody (YA4623) WB, IHC-P, ICC/IF, FC, ELISA Human, Mouse, Monkey, Rat
HY-P84926A C9orf72 Antibody (YA4623)(PBS only) WB, IHC-P, ICC/IF, FC, ELISA Human, Mouse, Monkey, Rat
HY-P86795 C9orf72 Antibody (YA6488) WB Human, Mouse, Rat

Related Diseases

Diseases Alias
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

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

Huntington Disease-Like Syndrome Due To C9orf72 Expansions
  • C9orf72-Related Huntington Disease Phenocopy

  • C9orf72-Related Huntington Disease-Like Syndrome

  • Huntington Disease Phenocopy Due To C9orf72 Expansions

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

  • Progressive Nonfluent Aphasia

  • Non-Fluent Primary Progressive Aphasia

  • Agramatic Variant Of Ppa

  • Agramatic Variant Of Primary Progressive Aphasia

  • Primary Progressive Non Fluent Aphasia

  • Primary Progressive Nonfluent Aphasia

Pick Disease Of Brain
  • Pick Disease

  • Pick'S Disease

  • Pick Disease Of The Brain

  • Lobar Atrophy Of Brain

  • Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions

  • Behavioral Variant Of Frontotemporal Dementia

  • Dementia In Pick'S Disease

  • Lobar Atrophy Of The Brain

  • Bvftd

  • Bv-Ftd

  • PIDB

  • Picks Disease

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

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

Aphasia
Speech And Communication Disorders
  • Language Disorder

  • Communication Disorder

  • Language Disorders

  • Communication Disorders

  • Speech Language Disorder

  • Speech-Language Disorder

  • Communication Impairment

  • Speech And Language Disorder

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

Associative Agnosia
Spinocerebellar Ataxia 36
  • Spinocerebellar Ataxia Type 36

  • SCA36

  • Asidan Ataxia

  • Costa De Morte Ataxia

  • Asidan

  • Ataxia, Spinocerebellar, Type 36

Cardiomyopathy, Familial Hypertrophic, 20
  • Hypertrophic Cardiomyopathy 20

  • CMH20

  • Cardiomyopathy, Hypertrophic, 20

  • Cardiomyopathy Familial Hypertrophic 20

  • Cardiomyopathy, Familial Hypertrophic 20

  • Cardiomyopathy, Hypertrophic, Familial, Type 20

Nominal Aphasia
  • Anomia

  • Anomic Aphasia

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

Dysgraphia
  • Agraphia

Progressive Bulbar Palsy
  • Bulbar Palsy, Progressive

  • Progressive Bulbar Atrophy

  • Bulbar Palsy

  • Pbp - [Progressive Bulbar Palsy]

  • Progressive Bulbar Paralysis

  • Bulbar Paralysis

  • Chronic Bulbar Palsy

  • Chronic Bulbar Paralysis

  • Supranuclear Bulbar Paralysis

X-Linked Hereditary Ataxia
Writing Disorder
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
  • FTDALS2

  • Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-2

  • Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis, Type 2

Phonagnosia
Anosognosia
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]

Amyotrophic Lateral Sclerosis 18
  • Amyotrophic Lateral Sclerosis Type 18

  • ALS18

  • Sclerosis, Lateral, Amyotrophic, Type 18

Fragile X-Associated Tremor/Ataxia Syndrome
  • Fxtas Syndrome

  • Fragile X Tremor/Ataxia Syndrome

  • Fxtas

Muscular Atrophy
  • Muscle Wasting

  • Amyotrophia

  • Wasting - Muscle

  • Skeletal Muscle Atrophy

Prosopagnosia
Amyotrophic Lateral Sclerosis 19
  • Amyotrophic Lateral Sclerosis Type 19

  • ALS19

  • Sclerosis, Lateral, Amyotrophic, Type 19

Spinocerebellar Ataxia 8
  • Spinocerebellar Ataxia Type 8

  • SCA8

  • Ataxia, Spinocerebellar, Type 8

Essential Tremor
  • Benign Essential Tremor

  • Familial Tremor

  • Hereditary Essential Tremor

  • Essential Hereditary Tremor

  • Shaky Hand Syndrome

  • Benign Essential Tremor Syndrome

  • Tremor Hereditary Essential

  • Essential Tremor, Susceptibility To

  • Tremor, Hereditary Essential

Multisystem Proteinopathy
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

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

  • Als15

  • Amyotrophic Lateral Sclerosis 15

Agraphia
Amyotrophic Lateral Sclerosis Type 22
  • Als 22

  • Amyotrohpic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia

  • Amyotrophic Lateral Sclerosis 22

Spinocerebellar Ataxia 31
  • Spinocerebellar Ataxia Type 31

  • SCA31

  • Spinocerebellar Ataxia 16q22-Linked

  • Spinocerebellar Ataxia, 16q22-Linked

  • Pure Spinocerebellar Ataxia Japanese Type

  • Sca4 Pure Japanese Type

  • Ataxia, Spinocerebellar, Type 31

Postpoliomyelitis Syndrome
  • Postpolio Syndrome

  • Post-Polio Syndrome

  • Post Polio Syndrome

  • Polio Late Effects

  • Post-Polio Muscular Atrophy

  • Post-Polio Sequelae

  • Post-Poliomyelitic Syndrome

  • Postpolio Sequelae

  • Postpoliomyelitic Syndrome

  • Postpoliomyelitis Sequelae

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
  • FTDALS3

  • Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-3

  • Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis, Type 3

Myotonic Dystrophy 2
  • Myotonic Dystrophy Type 2

  • Proximal Myotonic Myopathy

  • Promm

  • Ricker Syndrome

  • DM2

  • Dystrophia Myotonica 2

  • Myotonic Myopathy, Proximal

  • Myotonic Disorders

  • Dystrophia Myotonica Type 2

  • Proximal Myotonic Dystrophy

  • Ricker Disease

  • Myotonic Dystrophy, Type 2

  • Dystrophy, Myotonic, Type 2

Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
  • Guam Disease

  • Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex Of Guam

  • Als-Pdc

  • Lytico-Bodig Disease

  • Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Complex

  • Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1, Susceptibility To

  • Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex, Susceptibility To

  • Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex

  • Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Of Guam Syndrome

  • Parkinsonism-Dementia-Als Complex

  • Pdals

  • Amyotrophic Lateral Sclerosis, Parkinsonism/Dementia Complex Of Guam

  • Parkinson-Dementia Complex Of Guam

  • G-Pdc

  • Guam Parkinsonism-Dementia Complex

  • ALS-PDC1

  • Als/Pdc Of Guam

  • Amyotrophic Lateral Sclerosis

  • Sclerosis, Lateral, Amyotrophic/Parkinsonism/Dementia Complex 1

  • Amyotrophic Lateral Sclerosis, Guam Form

  • Parkinsonian Disorders

Huntington Disease
  • Huntington'S Disease

  • Huntington Chorea

  • Huntington'S Chorea

  • HD

  • Huntington Chronic Progressive Hereditary Chorea

  • Juvenile Huntington Disease

  • Chronic Progressive Chorea

  • Chronic Progressive Hereditary Chorea

  • Hc - [Huntington Chorea]

  • Hereditary Chorea

  • Progressive Hereditary Chorea

Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
  • Amyotrophic Lateral Sclerosis Type 10

  • ALS10

  • Amyotrophic Lateral Sclerosis 10, With Or Without Ftd

  • Frontotemporal Lobar Degeneration, Tardbp-Related

  • Amyotrophic Lateral Sclerosis 10

  • Amyotrophic Lateral Sclerosis 10, With Or Without Frontotemporal Dementia

  • Tardbp-Related Frontotemporal Lobar Degeneration With Tdp43 Inclusions

  • Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia And With Tdp43 Inclusions

  • Sclerosis, Lateral, Amyotrophic, Type Type 10

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

  • Msp2

  • Multisystem Proteinopathy 2

Myotonic Disease
  • Myotonic Disorders

  • Myotonic Syndrome

  • Symptomatic Myotonia

Ideomotor Apraxia
  • Apraxia, Ideomotor

  • Classic Apraxia

  • Ideomotor Dyspraxia

  • Limb-Kinetic Apraxia

  • Transcortical Apraxia

Perry Syndrome
  • Parkinsonism With Alveolar Hypoventilation And Mental Depression

  • PERRYS

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

Pseudobulbar Palsy
  • Pseudobulbar Paralysis

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

Amyotrophic Lateral Sclerosis 20
  • Amyotrophic Lateral Sclerosis Type 20

  • ALS20

  • Sclerosis, Lateral, Amyotrophic, Type 20

Obsessive-Compulsive Disorder
  • OCD

  • Obsessive-Compulsive Disorder, Susceptibility To

  • Anancastic Neurosis

  • Obsessive Compulsive Disorder

  • Anankastic Neurosis

  • Obsessive-Compulsive Neurosis

  • Obsessive Compulsive Behavior

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

  • ALS16

  • Amyotrophic Lateral Sclerosis 16

  • Sclerosis, Lateral, Amyotrophic, Type 16, Juvenile

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
  • FTDALS4

  • Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-4

  • Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis, Type 4

Restless Legs Syndrome
  • Wed

  • Willis-Ekbom Disease

  • Restless Leg Syndrome

  • Ekbom Syndrome

  • Wittmaack-Ekbom Syndrome

  • Willis Ekbom Disease

  • Ekbom'S Syndrome

  • Rls

  • Restless Legs

  • Restless Legs Syndrome, Susceptibility To

Alexia
  • Dyslexia

  • Dyslexia, Acquired

  • Acquired Dyslexia

  • Aphemesthaesia

Pupil Disease
  • Pupil Disorders

  • Pupillary Disorder

Supranuclear Palsy, Progressive, 1
  • Progressive Supranuclear Palsy

  • Steele-Richardson-Olszewski Syndrome

  • Supranuclear Palsy, Progressive

  • Progressive Supranuclear Ophthalmoplegia

  • Psp

  • 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 8
  • Amyotrophic Lateral Sclerosis Type 8

  • ALS8

  • Sclerosis, Lateral, Amyotrophic, Type Type 8

Amyotrophic Lateral Sclerosis 4, Juvenile
  • Amyotrophic Lateral Sclerosis Type 4

  • ALS4

  • Amyotrophic Lateral Sclerosis 4

  • Dhmn With Upper Motor Neuron Signs

  • Distal Hereditary Motor Neuropathy With Upper Motor Neuron Signs

  • Neuronopathy, Distal Hereditary Motor, With Pyramidal Features

  • Als 4

  • Distal Hereditary Motor Neuropathy With Pyramidal Features

  • Amyotrophic Lateral Sclerosis Juvenile 4

  • Neuronopathy Distal Hereditary Motor With Pyramidal Features

  • Sclerosis, Lateral, Amyotrophic, Type Type 4

Huntington Disease-Like 2
  • HDL2

  • Huntington'S Disease-Like 2

  • Huntington Disease-Like, Type 2

Echolalia
Creutzfeldt-Jakob Disease
  • Variant Creutzfeldt-Jakob Disease

  • CJD

  • Bovine Spongiform Encephalopathy

  • Vcjd

  • Inherited Creutzfeldt-Jakob Disease

  • Creutzfeldt-Jakob Disease, Familial

  • Creutzfeldt Jakob Disease

  • Creutzfeldt-Jacob Disease

  • Creutzfeldt Jacob Disease

  • Sporadic Creutzfeldt-Jakob Disease

  • Encephalopathy, Bovine Spongiform

  • Creutzfeldt-Jakob Disease, Variant, Resistance To

  • Creutzfeldt-Jakob Disease, Variant

  • Creutzfeldt Jacob Syndrome

  • Jakob-Creutzfeldt Disease

  • Subacute Spongiform Encephalopathy

  • Transmissible Virus Dementia

  • New Variant Of Cjd

  • Nv-Cjd

  • Variant Cjd

  • Variant Creutzfeldt-Jacob Disease

  • Sporadic Cjd

  • Inherited Cjd

  • Acquired Creutzfeldt-Jakob Disease

  • Variant Mcj

  • Encephalopathy Bovine Spongiform

  • Familial Creutzfeldt-Jakob Disease

  • Creutzfeldt-Jakob Syndrome

  • New Variant Creutzfeldt-Jakob Disease

  • Creutzfeldt-Jakob Disease, Sporadic

  • Acquired Cjd

  • Scjd - [Sporadic Creutzfeldt-Jakob Disease]

  • Idiopathic Creutzfeldt-Jakob Disease

  • Creutzfeld-Jakob Disease Nos

  • Vcjd - [Variant Creutzfeldt-Jakob Disease]

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

Visual Agnosia
  • Primary Visual Agnosia

Amyotrophic Lateral Sclerosis 11
  • Amyotrophic Lateral Sclerosis Type 11

  • ALS11

  • Sclerosis, Lateral, Amyotrophic, Type Type 11

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]

Mutism
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

Cerebellar Disease
  • Cerebellar Diseases

  • Cerebellar Dysfunction

  • Cerebellar Abnormality

  • Cerebellar Disorders

Hereditary Ataxia
  • Sca

  • Spinocerebellar Ataxia

  • Ataxias Hereditary

  • Ataxias, Hereditary

Fatal Familial Insomnia
  • Insomnia, Fatal Familial

  • FFI

  • Familial Fatal Insomnia

  • Insomnia Familial Fatal

  • Insomnia Fatal Familial

  • Insomnia, Fatal, Familial

  • Ffi - [Fatal Familial Insomnia]

Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
  • Hereditary Diffuse Leukoencephalopathy With Spheroids

  • Adult-Onset Leukoencephalopathy With Axonal Spheroids And Pigmented Glia

  • Alsp

  • Gpsc

  • Subcortical Gliosis Of Neumann

  • Leukoencephalopathy, Diffuse Hereditary, With Spheroids 1

  • Autosomal Dominant Leukoencephalopathy With Neuroaxonal Spheroids

  • Hdls

  • HDLS1

  • Leukoencephalopathy, Adult-Onset, With Axonal Spheroids And Pigmented Glia

  • Gliosis, Familial Progressive Subcortical

  • Leukoencephalopathy, Diffuse Hereditary, With Spheroids

  • Pold

  • Pigmentary Orthochromatic Leukodystrophy

  • Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids And Pigmented Glia

  • Familial Progressive Subcortical Gliosis

  • Leukoencephalopathy With Neuroaxonal Spheroids, Autosomal Dominant

  • Dementia, Familial, Neumann Type

  • Adult-Onset Leukodystrophy With Neuroaxonal Spheroids

  • Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids

  • Neuroaxonal Leukodystrophy

  • Fpsg

  • Familial Dementia, Neumann Type

  • Familial Dementia Neumann Type

  • Leukoencephalopathy, Diffuse Hereditary, With Spheroid

Autosomal Dominant Cerebellar Ataxia
  • Spinocerebellar Ataxia

  • Adca

  • Pierre Marie Cerebellar Ataxia

  • Ataxia, Spinocerebellar

  • Sca

  • Autosomal Dominant Spinocerebellar Ataxia

  • Spinocerebellar Ataxias

Movement Disease
  • Movement Disorders

  • Movement Disorder

Spinocerebellar Ataxia 10
  • Spinocerebellar Ataxia Type 10

  • SCA10

  • Spinocerebellar Ataxia-10

  • Ataxia, Spinocerebellar, Type 10

Myotonic Dystrophy 1
  • Myotonic Dystrophy

  • Dystrophia Myotonica

  • Steinert Disease

  • Myotonic Dystrophy Type 1

  • Myotonia Atrophica

  • DM1

  • Congenital Myotonic Dystrophy

  • Myotonia Dystrophica

  • Steinert Myotonic Dystrophy

  • Dystrophia Myotonica 1

  • Dm

  • Steinert'S Disease

  • Steinert Myotonic Dystrophy Syndrome

  • Myotonic Dystrophy Of Steinert

  • Dystrophia Myotonica Type 1

  • Myotonic Dystrophy Congenital

  • Dystrophy, Myotonic, Type 1

  • Dm - [Dystrophia Myotonica]

  • Myotonic Muscular Dystrophy

Hydrocephalus
  • Hydrocephalus, Nonsyndromic, Autosomal Recessive

  • Hydrocephalus, X-Linked

  • Hydrocephalus Adverse Event

  • Hydrocephaly Nos

Dystonia
  • Dystonic Disease

  • Dystonic Disorder

  • Dystonia Disorders

  • Neuroleptic Dyskinesia

Disease Of Mental Health
  • Mental Health

  • Mental Disorders

Multiple System Atrophy 1
  • Multiple System Atrophy

  • Shy-Drager Syndrome

  • Msa

  • MSA1

  • Multiple System Atrophy 1, Susceptibility To

  • Sporadic Olivopontocerebellar Atrophy

  • Multisystem Atrophy

  • Msa1, Susceptibility To

  • Multiple System Atrophy, Susceptibility To

  • Opca

  • Progressive Autonomic Failure With Multiple System Atrophy

  • Sds

Fuchs' Endothelial Dystrophy
  • Fuchs Endothelial Corneal Dystrophy

  • Fuchs Endothelial Dystrophy

  • Fuchs Dystrophy

  • Fced

  • Fuchs' Corneal Dystrophy

  • Fuchs' Endothelial Corneal Dystrophy

  • Fuchs Atrophy

  • Fuchs Corneal Dystrophy

  • Endoepithelial Corneal Dystrophy

  • Fecd

  • Late Hereditary Endothelial Dystrophy

  • Corneal Dystrophy, Fuchs Endothelial

  • Dystrophy, Corneal, Fuchs Endothelial

  • Corneal Dystrophy, Fuchs' Endothelial, 1

Choreatic Disease
  • Chorea

  • Hereditary Chorea

Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
  • Aoa2

  • Ataxia With Oculomotor Apraxia Type 2

  • Scar1

  • SCAN2

  • Ataxia-Oculomotor Apraxia 2

  • Ataxia-Ocular Apraxia 2

  • Ataxia-Oculomotor Apraxia Type 2

  • Scan 2

  • Spinocerebellar Ataxia With Axonal Neuropathy Type 2

  • Spinocerebellar Ataxia, Autosomal Recessive 1, Formerly

  • Scar1, Formerly

  • Autosomal Recessive Spinocerebellar Ataxia-1

  • Spinocerebellar Ataxia, Autosomal Recessive, 1

  • Ataxia-Ocular Apraxia-2

  • Spinocerebellar Ataxia, Autosomal Recessive 1

Epithelial-Stromal Tgfbi Dystrophy
Lattice Corneal Dystrophy
  • Familial Amyloid Neuropathy, Finnish Type

  • Familial Amyloid Polyneuropathy, Type V

Dentatorubral-Pallidoluysian Atrophy
  • DRPLA

  • Naito-Oyanagi Disease

  • Haw River Syndrome

  • Myoclonic Epilepsy With Choreoathetosis

  • Nod

  • Ataxia, Chorea, Seizures, And Dementia

  • Dentatorubropallidoluysian Atrophy

  • Hrs

  • Naito Oyanagi Disease

  • Dentatorubral Pallidoluysian Atrophy

  • Dentatorubro-Pallidoluysian Atrophy

  • Myoclonic Epilepsies, Progressive

  • Atrophy, Pallidoluysian, Dentatorubral

Epilepsy, Idiopathic Generalized 2
  • EIG2

  • Epilepsy, Idiopathic Generalized, Susceptibility To, 2

  • Idiopathic Generalized Epilepsy 2

  • Epilepsy, Idiopathic Generalized Locus On Chromosome 14

  • Epilepsy, Idiopathic Generalized, Susceptibility To, Locus On Chromosome 14

Specific Developmental Disorder
Cortical Deafness
Premature Ovarian Failure 1
  • Ovarian Failure, Premature

  • Fmr1-Related Primary Ovarian Insufficiency

  • Fragile X-Associated Primary Ovarian Insufficiency

  • POF1

  • Pofx

  • Hypergonadotropic Ovarian Failure, X-Linked

  • Pof

  • Primary Ovarian Insufficiency, Fragile X-Associated

  • Primary Ovarian Insufficiency 1

  • Ovarian Failure Premature

  • Premature Ovarian Failure, X-Linked

  • Fragile X Premature Ovarian Failure

  • Fmr1-Related Premature Ovarian Failure

  • Familial Premature Ovarian Failure

  • Idiopathic Familial Premature Ovarian Failure

  • Fxpoi

  • X-Linked Hypergonadotropic Ovarian Failure

  • Hypergonadotropic Ovarian Failure X-Linked

  • Poi

  • Premature Ovarian Failure X-Linked

  • Primary Ovarian Insufficiency

  • Premature Ovarian Failure-1

  • Ovarian Failure, Premature, Type 1

  • Premature Ovarian Failure, Familial

  • Premature Menopause

  • Primary Hypogonadism

  • Turner Syndrome

Speech Disorder
  • Speech Disorders

Spinocerebellar Ataxia 1
  • Spinocerebellar Ataxia Type 1

  • SCA1

  • Olivopontocerebellar Atrophy I

  • Opca1

  • Opca4

  • Menzel Type Opca

  • Schut-Haymaker Type Opca

  • Spinocerebellar Atrophy I

  • Opca I

  • Olivopontocerebellar Atrophy Iv

  • Opca Iv

  • Cerebelloparenchymal Disorder I

  • Cpd1

  • Olivopontocerebellar Atrophy 1

  • Cerebelloparenchymal Disorder 1

  • Olivopontocerebellar Atrophy 4

  • Spinocerebellar Atrophy 1

  • Type 1 Spinocerebellar Ataxia

  • Spinocerebellar Ataxia-1

  • Ataxia, Spinocerebellar, Type 1

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

Familial Adult Myoclonic Epilepsy
  • Benign Adult Familial Myoclonus Epilepsy

  • Bafme

  • Benign Adult Familial Myoclonic Epilepsy

  • Fame

  • Familial Cortical Myoclonic Tremor And Epilepsy

  • Fcmte

  • Adcme

  • Autosomal Dominant Cortical Myoclonus And Epilepsy

  • Fam

  • Epilepsy, Myoclonic, Familial Adult

  • Epilepsy, Myoclonic, Benign Adult Familial, Type 2

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

Neuromuscular Disease
  • Neuromuscular Diseases

  • Neuromuscular Disorders

  • Neuromuscular Disorder

Spinal Muscular Atrophy
  • Sma

  • 5q Sma

  • Proximal Sma

  • Sma-Associated Sma

  • Spinal Amyotrophies

  • Spinal Amyotrophy

  • Spinal Muscle Degeneration

  • Spinal Muscle Wasting

  • Muscular Atrophy Spinal

  • Atrophy, Muscular, Spinal

  • Hereditary Motor Neuronopathy

  • Progressive Muscular Atrophy

  • Sma - [Spinal Muscular Atrophy]

Hereditary Spastic Paraplegia
  • Familial Spastic Paraplegia

  • Hereditary Spastic Paraparesis

  • Strumpell-Lorrain Disease

  • Familial Spastic Paraparesis

  • Hsp

  • Spg

  • Strümpell-Lorrain Disease

  • Spastic Paraplegia, Hereditary

  • French Settlement Disease

  • Strumpell-Lorrain Syndrome

  • Fsp

  • Spastic Paraplegia, Familial

  • Spastic Paraplegia Hereditary

  • Spastic Paraplegia 3, Autosomal Dominant

  • Spastic Paraparesis

  • Hereditary Spastic Paralysis

  • Familial Spastic Paralysis

  • Hereditary Spastic Ataxia

Schizophrenia
  • SCZD

  • Schizophrenia With Or Without An Affective Disorder

  • Schizophrenia 12

  • Schizophrenia, Susceptibility To

  • Schizophrenia-1

  • Dementia Praecox

  • Schizophrenia 1

Hemochromatosis, Type 1
  • Hemochromatosis

  • Hemochromatosis Type 1

  • Hereditary Hemochromatosis

  • Hh

  • HFE1

  • Hfe Hemochromatosis, Modifier Of

  • Symptomatic Form Of Classic Hemochromatosis

  • Symptomatic Form Of Hemochromatosis Type 1

  • Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis

  • Haemochromatosis

  • Iron Storage Disorder

  • Bronze Diabetes

  • Hereditary Haemochromatosis

  • Hlah

  • Hfe

  • Hemochromatosis, Hereditary

  • Diabetes Bronze

  • Classic Hemochromatosis

  • Hfe-Associated Hereditary Hemochromatosis

  • Hemochromatosis Classic

  • Bronzed Cirrhosis

  • Familial Hemochromatosis

  • Genetic Hemochromatosis

  • Hc

  • Pigmentary Cirrhosis

  • Primary Hemochromatosis

  • Troisier-Hanot-Chauffard Syndrome

  • Von Recklenhausen-Applebaum Disease

  • Hemochromatosis 1

  • Primary Hereditary Hemochromatosis

  • Bronze Cirrhosis

Nervous System Disease
  • Abnormality Of The Nervous System

  • Nervous System Diseases

  • Nervous System Disorder

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

Peripheral Nervous System Disease
  • Peripheral Neuropathy

  • Peripheral Nerve Disease

  • Peripheral Nerve Disorders

  • Neuropathy, Peripheral

  • Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

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

Myopathy
  • Muscular Diseases

  • Myopathies

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
Bos taurus C9orf72 VGNC VGNC:52742
Macaca mulatta C9orf72 VGNC VGNC:70419
Rattus norvegicus C9orf72 RGD RGD:1359108
Canis familiaris C9orf72 VGNC VGNC:52490
Mus musculus C9orf72 MGD MGI:1920455
Felis catus C9orf72 VGNC VGNC:60630
Others C9orf72 NCBI