PRKN - parkin RBR E3 ubiquitin protein ligase Gene

Also Known as PDJ; AR-JP; LPRS2; PARK2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5071

About PRKN

Cytogenetic location: 6q26 Genomic coordinates (GRCh38): 6:161,347,417-162,727,766 (from NCBI)

This gene has 23 transcripts (splice variants), 224 orthologues, 9 paralogues and is associated with 4 phenotypes. Broad expression in heart (RPKM 3.6), kidney (RPKM 3.5) and 21 other tissues.

Summary

The precise function of this gene is unknown; however, the encoded protein is a component of a multiprotein E3 ubiquitin Ligase complex that mediates the targeting of substrate proteins for proteasomal degradation. Mutations in this gene are known to cause Parkinson disease and autosomal recessive juvenile Parkinson disease. Alternative splicing of this gene produces multiple transcript variants encoding distinct isoforms. Additional splice variants of this gene have been described but currently lack transcript support. [provided by RefSeq, Jul 2008]

PRKN Products (3)

mRNA Protein Name
NM_004562.3 NP_004553.2 E3 ubiquitin-protein ligase parkin isoform 1
NM_013987.3 NP_054642.2 E3 ubiquitin-protein ligase parkin isoform 2
NM_013988.3 NP_054643.2 E3 ubiquitin-protein ligase parkin isoform 3
Molecular Function GO Annotation Evidence References Source
enables F-box domain binding IPI
IPI: Inferred from physical interaction
12628165 GOA
enables G protein-coupled receptor binding IPI
IPI: Inferred from physical interaction
12150907 GOA
enables Hsp70 protein binding IPI
IPI: Inferred from physical interaction
12150907 GOA
enables PDZ domain binding IPI
IPI: Inferred from physical interaction
17512523 GOA
enables actin binding IPI
IPI: Inferred from physical interaction
21753002 GOA
enables beta-catenin binding IDA
IDA: Inferred from direct assay
19591802 GOA
enables cullin family protein binding IDA
IDA: Inferred from direct assay
12628165 GOA
enables enzyme binding IPI
IPI: Inferred from physical interaction
19725078 GOA
enables heat shock protein binding IPI
IPI: Inferred from physical interaction
12150907 GOA
enables histone deacetylase binding IPI
IPI: Inferred from physical interaction
21753002 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
21694720 GOA
enables kinase binding IPI
IPI: Inferred from physical interaction
17512523 GOA
enables phospholipase binding IPI
IPI: Inferred from physical interaction
19725078 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
10888878 GOA
enables protein kinase binding IPI
IPI: Inferred from physical interaction
20798600 GOA
enables protein-containing complex binding IPI
IPI: Inferred from physical interaction
23453807 GOA
enables protein-folding chaperone binding IPI
IPI: Inferred from physical interaction
15603737 GOA
enables transcription corepressor activity IDA
IDA: Inferred from direct assay
23985028 GOA
enables tubulin binding IPI
IPI: Inferred from physical interaction
21753002 GOA
enables ubiquitin binding IDA
IDA: Inferred from direct assay
24784582 GOA
enables ubiquitin conjugating enzyme binding IDA
IDA: Inferred from direct assay
10973942 GOA
enables ubiquitin conjugating enzyme binding IPI
IPI: Inferred from physical interaction
11439185 GOA
enables ubiquitin protein ligase activity IDA
IDA: Inferred from direct assay
10973942 GOA
enables ubiquitin protein ligase activity IMP
IMP: Inferred from mutant phenotype
32047033 GOA
enables ubiquitin protein ligase binding IMP
IMP: Inferred from mutant phenotype
24751536 GOA
enables ubiquitin protein ligase binding IPI
IPI: Inferred from physical interaction
12150907 GOA
enables ubiquitin-protein transferase activity EXP
EXP: Inferred from Experiment
31358971 GOA
enables ubiquitin-protein transferase activity IDA
IDA: Inferred from direct assay
11078524 GOA
enables ubiquitin-specific protease binding IPI
IPI: Inferred from physical interaction
24063750 GOA
Biological Process GO Annotation Evidence References Source
involved in aggresome assembly IMP
IMP: Inferred from mutant phenotype
14645198 GOA
involved in autophagy of mitochondrion IDA
IDA: Inferred from direct assay
25621951 GOA
involved in autophagy of mitochondrion IMP
IMP: Inferred from mutant phenotype
19029340 GOA
involved in cellular response to toxic substance IMP
IMP: Inferred from mutant phenotype
12628165 GOA
involved in free ubiquitin chain polymerization IMP
IMP: Inferred from mutant phenotype
24660806 GOA
involved in mitochondrion to lysosome vesicle-mediated transport IDA
IDA: Inferred from direct assay
24446486 GOA
involved in mitophagy IDA
IDA: Inferred from direct assay
23685073 GOA
involved in negative regulation by host of viral genome replication IDA
IDA: Inferred from direct assay
25244949 GOA
involved in negative regulation of actin filament bundle assembly IDA
IDA: Inferred from direct assay
17512523 GOA
involved in negative regulation of canonical Wnt signaling pathway IDA
IDA: Inferred from direct assay
19591802 GOA
involved in negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway IDA
IDA: Inferred from direct assay
11439185 GOA
involved in negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway IMP
IMP: Inferred from mutant phenotype
10973942 GOA
involved in negative regulation of exosomal secretion IMP
IMP: Inferred from mutant phenotype
26911690 GOA
involved in negative regulation of gene expression IMP
IMP: Inferred from mutant phenotype
19725078 GOA
acts upstream of or within negative regulation of glucokinase activity IDA
IDA: Inferred from direct assay
24187134 GOA
acts upstream of or within negative regulation of insulin secretion IDA
IDA: Inferred from direct assay
24187134 GOA
involved in negative regulation of intralumenal vesicle formation IMP
IMP: Inferred from mutant phenotype
26911690 GOA
involved in negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator IMP
IMP: Inferred from mutant phenotype
23985028 GOA
involved in negative regulation of neuron apoptotic process IDA
IDA: Inferred from direct assay
12628165 GOA
involved in negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway IDA
IDA: Inferred from direct assay
17314283 GOA
involved in negative regulation of primary amine oxidase activity IMP
IMP: Inferred from mutant phenotype
22314364 GOA
involved in negative regulation of protein phosphorylation IDA
IDA: Inferred from direct assay
17512523 GOA
involved in negative regulation of reactive oxygen species metabolic process IGI
IGI: Inferred from genetic interaction
18541373 GOA
involved in negative regulation of release of cytochrome c from mitochondria IDA
IDA: Inferred from direct assay
19880420 GOA
involved in negative regulation of spontaneous neurotransmitter secretion IMP
IMP: Inferred from mutant phenotype
22314364 GOA
involved in negative regulation of transcription by RNA polymerase II IMP
IMP: Inferred from mutant phenotype
23985028 GOA
involved in positive regulation of DNA binding IDA
IDA: Inferred from direct assay
17314283 GOA
involved in positive regulation of canonical NF-kappaB signal transduction IDA
IDA: Inferred from direct assay
17314283 GOA
involved in positive regulation of canonical NF-kappaB signal transduction IMP
IMP: Inferred from mutant phenotype
23453807 GOA
involved in positive regulation of gene expression IMP
IMP: Inferred from mutant phenotype
19725078 GOA
involved in positive regulation of mitochondrial fusion IMP
IMP: Inferred from mutant phenotype
23453807 GOA
involved in positive regulation of mitophagy IDA
IDA: Inferred from direct assay
26310625 GOA
involved in positive regulation of neurotransmitter uptake IMP
IMP: Inferred from mutant phenotype
22314364 GOA
involved in positive regulation of proteasomal protein catabolic process IGI
IGI: Inferred from genetic interaction
23858059 GOA
involved in positive regulation of protein binding IMP
IMP: Inferred from mutant phenotype
26911690 GOA
involved in positive regulation of protein linear polyubiquitination IGI
IGI: Inferred from genetic interaction
23453807 GOA
involved in positive regulation of protein localization to membrane IMP
IMP: Inferred from mutant phenotype
26911690 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
23453807 GOA
involved in positive regulation of tumor necrosis factor-mediated signaling pathway IDA
IDA: Inferred from direct assay
23453807 GOA
involved in positive regulation of type 2 mitophagy IDA
IDA: Inferred from direct assay
20457763 GOA
involved in positive regulation of type 2 mitophagy IMP
IMP: Inferred from mutant phenotype
20871098 GOA
involved in proteasomal protein catabolic process IMP
IMP: Inferred from mutant phenotype
19725078 GOA
involved in proteasome-mediated ubiquitin-dependent protein catabolic process IDA
IDA: Inferred from direct assay
11439185 GOA
involved in protein K11-linked ubiquitination IDA
IDA: Inferred from direct assay
25621951 GOA
involved in protein K48-linked ubiquitination IDA
IDA: Inferred from direct assay
21376232 GOA
involved in protein K6-linked ubiquitination IDA
IDA: Inferred from direct assay
25621951 GOA
involved in protein K63-linked ubiquitination IDA
IDA: Inferred from direct assay
15728840 GOA
involved in protein autoubiquitination IDA
IDA: Inferred from direct assay
12628165 GOA
involved in protein destabilization IDA
IDA: Inferred from direct assay
19591802 GOA
involved in protein monoubiquitination IDA
IDA: Inferred from direct assay
20889974 GOA
involved in protein monoubiquitination IMP
IMP: Inferred from mutant phenotype
24660806 GOA
involved in protein polyubiquitination IDA
IDA: Inferred from direct assay
12150907 GOA
involved in protein polyubiquitination IMP
IMP: Inferred from mutant phenotype
32047033 GOA
involved in protein stabilization IMP
IMP: Inferred from mutant phenotype
19229105 GOA
involved in protein ubiquitination IDA
IDA: Inferred from direct assay
10973942 GOA
involved in protein ubiquitination IMP
IMP: Inferred from mutant phenotype
23933751 GOA
involved in regulation of autophagy IDA
IDA: Inferred from direct assay
20889974 GOA
involved in regulation of cellular response to oxidative stress IDA
IDA: Inferred from direct assay
24446486 GOA
involved in regulation of cellular response to oxidative stress IMP
IMP: Inferred from mutant phenotype
22314364 GOA
involved in regulation of dopamine metabolic process IMP
IMP: Inferred from mutant phenotype
22314364 GOA
involved in regulation of mitochondrion organization IDA
IDA: Inferred from direct assay
21113145 GOA
involved in regulation of mitochondrion organization IGI
IGI: Inferred from genetic interaction
19279012 GOA
involved in regulation of protein stability IMP
IMP: Inferred from mutant phenotype
26911690 GOA
involved in regulation of protein ubiquitination IGI
IGI: Inferred from genetic interaction
23212910 GOA
involved in regulation of protein ubiquitination IMP
IMP: Inferred from mutant phenotype
20871098 GOA
involved in regulation of reactive oxygen species metabolic process IMP
IMP: Inferred from mutant phenotype
18541373 GOA
involved in response to endoplasmic reticulum stress IMP
IMP: Inferred from mutant phenotype
21113145 GOA
involved in type 2 mitophagy IDA
IDA: Inferred from direct assay
19029340 GOA
involved in ubiquitin-dependent protein catabolic process IDA
IDA: Inferred from direct assay
12925569 GOA
Cellular Component GO Annotation Evidence References Source
located in Golgi apparatus IDA
IDA: Inferred from direct assay
17097639 GOA
part of Parkin-FBXW7-Cul1 ubiquitin ligase complex IPI
IPI: Inferred from physical interaction
12628165 GOA
NOT part of SCF ubiquitin ligase complex IDA
IDA: Inferred from direct assay
12628165 GOA
located in aggresome IDA
IDA: Inferred from direct assay
14645198 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
17512523 GOA
located in cytosol IDA
IDA: Inferred from direct assay
19029340 GOA
located in cytosol IMP
IMP: Inferred from mutant phenotype
21508222 GOA
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
12150907 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
18957282 GOA
colocalizes with mitochondrion IMP
IMP: Inferred from mutant phenotype
21508222 GOA
located in mitochondrion IMP
IMP: Inferred from mutant phenotype
19029340 GOA
colocalizes with mitochondrion-derived vesicle IDA
IDA: Inferred from direct assay
24446486 GOA
located in neuron projection IDA
IDA: Inferred from direct assay
12925569 GOA
located in nucleus IDA
IDA: Inferred from direct assay
23985028 GOA
located in perinuclear region of cytoplasm IDA
IDA: Inferred from direct assay
17097639 GOA
part of ubiquitin ligase complex IDA
IDA: Inferred from direct assay
12150907 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

PRKN Protein Structure

ubiquitin

ubiquitin: Ubiquitin family (12 - 73)

IBR

IBR: IBR domain, a half RING-finger domain (328 - 376)

IBR

IBR: IBR domain, a half RING-finger domain (411 - 455)

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

E3 ubiquitin-protein ligase parkin

  • Parkinson disease (autosomal recessive, juvenile) 2, parkin

PRKN Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
PRKN O60260 FBXO7 Homo sapiens Q9Y3I1 23933751
Intra
PRKN O60260 FBXO7 Homo sapiens Q9Y3I1 23933751
Intra
PRKN O60260 FBXO7 Homo sapiens Q9Y3I1 23933751
Intra
PRKN O60260 RHOT1 Homo sapiens Q8IXI2 22078885
Intra
PRKN O60260 PINK1 Homo sapiens Q9BXM7 24357652
Intra
PRKN O60260 PINK1 Homo sapiens Q9BXM7 24357652
Intra
PRKN O60260 PINK1 Homo sapiens Q9BXM7 23933751
Intra
PRKN O60260 HDAC6 Homo sapiens Q9UBN7 19036992
Intra
PRKN O60260 HDAC6 Homo sapiens Q9UBN7 19036992
Intra
PRKN O60260 HDAC6 Homo sapiens Q9UBN7 19036992
Intra
PRKN O60260 HSP90AB1 Homo sapiens P08238 25959826
Intra
PRKN O60260 TRIP13 Homo sapiens Q15645 16189514
Intra
PRKN O60260 TRIP13 Homo sapiens Q15645 24722188
Intra
PRKN O60260 PDCD2 Homo sapiens Q16342 19146857
Intra
PRKN O60260 ZNF746 Homo sapiens Q6NUN9 21376232
Cross
PRKN O60260 Ywhah Mus musculus P68510 16096643
Cross
PRKN O60260 Ywhah Mus musculus P68510
SPR
16096643
Intra
PRKN O60260 LRRK2 Homo sapiens Q5S007 16352719
Cross
PRKN O60260 Septin5 Mus musculus Q9Z2Q6
Y2H
11078524
Cross
PRKN O60260 Septin5 Mus musculus Q9Z2Q6 11078524
Intra
PRKN O60260 CHPF Homo sapiens Q8IZ52-2
IF
22082830
Intra
PRKN O60260 FBXO7 Homo sapiens Q9Y3I1-1 23933751
Intra
PRKN O60260 ATXN3 Homo sapiens P54252-2
NMR
24063750
Cross
PRKN O60260 Q99IB8-PRO_0000045592 Hepatitis C virus Q99IB8-PRO_0000045592
Y2H
25244949
Cross: Cross-species interaction Intra: Intraspecies interaction

PRKN Antibodies

Cat. No. 상품명 신청 Reactivity
HY-P80779 Parkin Antibody WB, IHC-P, ICC/IF, IP, FC Human, Mouse, Rat
HY-P86206 Parkin Antibody (YA5898) WB, ICC/IF, ELISA Human, Mouse, Rat

Related Diseases

Diseases Alias
Parkinson Disease 2, Autosomal Recessive Juvenile
  • Young-Onset Parkinson Disease

  • PARK2

  • Pdj

  • Autosomal Recessive Juvenile Parkinson Disease 2

  • Epdf

  • Parkinson Disease, Juvenile, Type 2

  • Parkinson'S Disease 2

  • Autosomal Recessive Juvenile Parkinson Disease

  • Early-Onset Parkinson Disease

  • Parkinson Disease 2

  • Parkinson Disease, Juvenile, Autosomal Recessive

  • Parkinsonism, Early-Onset, With Diurnal Fluctuation

  • Autosomal Recessive Juvenile Parkinson'S Disease 2

  • Jp

  • Juvenile Parkinsonism

  • Parkinson Disease Autosomal Recessive, Early Onset

  • Parkinsonism, Early Onset, With Diurnal Fluctuation

  • Yopd

  • Autosomal Recessive Early-Onset Parkinson Disease Type 2

  • Chromosome 6-Linked Autosomal Recessive Parkinsonism

  • Early-Onset Parkinsonism With Diurnal Fluctuation

  • Parkinsonism Young Adult Onset

  • Parkinson Disease, Type 2

  • Parkinsonism, Juvenile

Leprosy 2
  • Leprosy, Susceptibility To, 2

  • LPRS2

  • Leprosy, Type 2

  • Leprosy

Parkin Type Of Early-Onset Parkinson Disease
  • Park-Parkin

  • Prkn Parkinson Disease

Ovarian Cancer
  • Ovarian Carcinoma

  • Ovarian Neoplasm

  • Malignant Tumour Of Ovary

  • Cancer Of The Ovary

  • Epithelial Ovarian Cancer

  • Neoplasm Of Ovary

  • Ovarian Neoplasms

  • Ovarian Cancers

  • Malignant Neoplasm Of Ovary

  • Primary Malignant Neoplasm Of Ovary

  • Ovarian Cancer, Somatic

  • Malignant Ovarian Tumor

  • Ovary Neoplasm

  • Primary Ovarian Cancer

  • Tumor Of The Ovary

  • Malignant Neoplasm Of The Ovary

  • Malignant Tumor Of The Ovary

  • Ovarian Malignant Tumor

  • OC

  • Ovarian Carcinomas

  • Cancer, Ovarian

  • Cancer Of Ovary

  • Ovary Cancer

  • Ca Ovary

Lung Cancer
  • Lung Carcinoma

  • Non-Small Cell Lung Carcinoma

  • Lung Cancer, Susceptibility To

  • Lung Cancer, Protection Against

  • Adenocarcinoma Of Lung, Somatic

  • Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

  • Nonsmall Cell Lung Cancer

  • Lung Neoplasm

  • Carcinoma Of Lung

  • Lung Non-Small Cell Carcinoma

  • Non-Small Cell Lung Cancer

  • Nsclc

  • Lung Neoplasms

  • Malignant Neoplasm Of Lung

  • Alveolar Cell Carcinoma

  • Nonsmall Cell Lung Cancer, Somatic

  • Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

  • Nonsmall Cell Lung Cancer, Susceptibility To

  • Lung Cancer, Somatic

  • Lung Cancer, Resistance To

  • Cancer Of Lung

  • Cancer Of Bronchus

  • Cancer Of The Lung

  • Lung Malignancies

  • Lung Malignant Tumors

  • Malignant Lung Tumor

  • Malignant Tumor Of Lung

  • Pulmonary Cancer

  • Pulmonary Carcinoma

  • Pulmonary Neoplasms

  • Respiratory Carcinoma

  • LNCR

  • Adenocarcinoma Of Lung

  • Neoplasm Of Lung

  • Cancer Lung

  • Carcinoma Non-Small Cell Lung

  • Carcinoma, Non-Small-Cell Lung

  • Lung Cancers

  • Lung Carcinomas

  • Cancer, Lung

  • Cancer, Lung, Non-Small Cell

  • Primary Malignant Neoplasm Of Lung

  • Bronchioloalveolar Adenocarcinoma

Lung Cancer Susceptibility 3
  • Lung Adenocarcinoma

  • Adenocarcinoma Of Lung

  • LNCR3

  • Adenocarcinoma Of Lung, Susceptibility To

  • Bronchogenic Lung Adenocarcinoma

  • Nonsmall Cell Adenocarcinoma

  • Adenocarcinoma Lung

  • Lung Adenocarcinomas

  • Non-Small Cell Adenocarcinoma

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

Paratyphoid Fever
  • Paratyphoid B Fever

  • Paratyphoid C Fever

  • Paratyphoid Fever A

  • Paratyphoid Fever B

  • Paratyphoid Fever C

  • Paratyphoid

  • Paratyphoid A

  • Paratyphoid A Fever

  • Paratyphoid B

  • Paratyphoid C

  • Infection Due To Salmonella Paratyphi

Parkinsonism
  • Parkinsonism-Plus

  • Idiopathic Parkinsonism

  • Primary Parkinsonism

  • Paralysis Agitans Syndrome

  • Parkinsonian Syndrome

  • Trembling Paralysis

  • Paralysis Agitans

  • Shaking Palsy

  • Shaking Paralysis

Parkinson Disease 3, Autosomal Dominant
  • PARK3

  • Parkinson Disease 3

  • Parkinson Disease 3, Autosomal Dominant Lewy Body

  • Parkinson'S Disease 3

  • Autosomal Dominant Lewy Body Parkinson Disease 3

  • Autosomal Dominant Parkinson Disease 3

  • Parkinson Disease Type 3

  • Autosomal Dominant Parkinson Disease

  • Parkinson Disease, Autosomal Dominant

  • Parkinson Disease, Familial, Type 1

Early-Onset Parkinson'S Disease
  • Early-Onset Parkinson Disease

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

Autism
  • Autistic Disorder

  • Autism Susceptibility 1

  • Childhood Autism

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Kanner'S Syndrome

  • Autistic

Movement Disease
  • Movement Disorders

  • Movement Disorder

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]

Schizophrenia
  • SCZD

  • Schizophrenia With Or Without An Affective Disorder

  • Schizophrenia 12

  • Schizophrenia, Susceptibility To

  • Schizophrenia-1

  • Dementia Praecox

  • Schizophrenia 1

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

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

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

Tremor
  • Medicament-Induced Tremor

  • Medication-Induced Postural Tremor

Juvenile-Onset Parkinson'S Disease
  • Juvenile-Onset Parkinson Disease

Angelman Syndrome
  • AS

  • Happy Puppet Syndrome

  • Happy Puppet Syndrome, Formerly

  • Puppetlike Syndrome

Myoclonic Epilepsy Of Lafora
  • Lafora Disease

  • Epilepsy, Progressive Myoclonic 2b

  • EPM2

  • Melf

  • Epilepsy, Progressive Myoclonic 2a

  • Epm2a

  • Lafora'S Disease

  • Lafora Body Disease

  • Lbd

  • Epilepsy, Progressive Myoclonic, 2a

  • Lafora Progressive Myoclonic Epilepsy

  • Epilepsy Progressive Myoclonic 2

  • Lafora Body Disorder

  • Pme Type 2

  • Progressive Myoclonic Epilepsy Type 2

  • Progressive Myoclonus Epilepsy Type 2

  • Epilepsy, Progressive Myoclonic 2

  • Epm2b

  • Ld

  • Progressive Myoclonic Epilepsy 2

  • Progressive Myoclonic Epilepsy 2a

  • Progressive Myoclonic Epilepsy 2b

  • Progressive Myoclonic Epilepsy Lafora Type

  • Epilepsy, Myoclonic, Of Lafora

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
  • Sarcotubular Myopathy

  • Lgmd2h

  • Muscular Dystrophy, Limb-Girdle, Type 2h

  • Limb-Girdle Muscular Dystrophy Type 2h

  • LGMDR8

  • Muscular Dystrophy Hutterite Type

  • Muscular Dystrophy, Hutterite Type

  • Muscular Dystrophy Limb-Girdle Type 2h

  • Trim32-Related Limb-Girdle Muscular Dystrophy R8

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h

  • Lgmd Due To Trim32 Deficiency

  • Lgmd Type 2h

  • Limb-Girdle Muscular Dystrophy Due To Trim32 Deficiency

  • Trim32-Related Lgmd R8

  • Limb-Girdle Muscular Dystrophy 2h

  • Dystrophy, Muscular, Limb-Girdle, Type 2h

Machado-Joseph Disease
  • SCA3

  • MJD

  • Spinocerebellar Ataxia 3

  • Azorean Disease

  • Spinocerebellar Ataxia Type 3

  • Spinocerebellar Atrophy

  • Azorean Neurologic Disease

  • Spinopontine Atrophy

  • Nigrospinodentatal Degeneration

  • 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

Dystonia
  • Dystonic Disease

  • Dystonic Disorder

  • Dystonia Disorders

  • Neuroleptic Dyskinesia

Parkinson Disease 15, Autosomal Recessive Early-Onset
  • Parkinsonian-Pyramidal Syndrome

  • Pallidopyramidal Syndrome

  • Parkinson Disease 15, Autosomal Recessive

  • PARK15

  • Pkps

  • Pallido-Pyramidal Syndrome

  • Parkinson'S Disease 15

  • Autosomal Recessive Early-Onset Parkinson Disease 15

  • Autosomal Recessive Early-Onset Parkinson'S Disease 15

  • Pallido-Pyramidal Disease

  • Parkinson Disease 15

  • Parkinson Disease 15 Autosomal Recessive

  • Pps

  • Parkinson Disease, Type 15

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

Postencephalitic Parkinson Disease
  • Postencephalitic Parkinsonism

  • Parkinson Disease, Postencephalitic

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

Focal Dystonia
  • Dystonia, Focal, Task-Specific

Dystonia 12
  • DYT12

  • Rdp

  • Generalized Dystonia

  • Dystonia-12

  • Rapid-Onset Dystonia-Parkinsonism

  • Familial Dystonia

  • Dystonia Musculorum Deformans

  • Dystonic Disorders

  • Idiopathic Familial Dystonia

  • Dystonia-Parkinsonism, Rapid-Onset

  • Fragments Of Torsion Dystonia

  • Dyt-Atp1a3

  • Rapid-Onset Dystonia Parkinsonism

  • Rodp

  • Dystonia, Type 12

  • Dystonia 3, Torsion, X-Linked

  • Idiopathic Non-Familial Dystonia

  • Symptomatic Torsion Dystonia

  • Dystonia Disorders

Vascular Parkinsonism
Parkinson Disease 21
  • PARK21

  • Parkinson'S Disease 21

  • Parkinson Disease, Type 21

Kufor-Rakeb Syndrome
  • Park9

  • Krppd

  • KRS

  • Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis And Dementia

  • Autosomal Recessive Parkinson Disease 9

  • Parkinson Disease 9

  • Parkinson Disease 9, Autosomal Recessive, Juvenile-Onset

  • Autosomal Recessive Juvenile Onset Parkinson Disease 9

  • Parkinson Disease Type 9

  • Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis, And Dementia

  • Park 9

  • Atp13a2-Related Juvenile Neuronal Ceroid Lipofuscinosis

  • Cln12 Disease

  • Juvenile Parkinsonism-Neuronal Ceroid Lipofuscinosis

  • Parkinson Disease Autosomal Recessive 9

Meier-Gorlin Syndrome 3
  • MGORS3

  • Meier-Gorlin Syndrome, Type 3

Limb-Girdle Muscular Dystrophy
  • Lgmd

  • Limb Girdle Muscular Dystrophy

  • Muscular Dystrophies, Limb-Girdle

  • Erb'S Muscular Dystrophy

  • Leyden-Mbius Muscular Dystrophy

  • Limb-Girdle Syndrome

  • Myopathic Limb-Girdle Syndrome

  • Limb Girdle

  • Muscular Dystrophy Limb-Girdle

  • Dystrophy, Muscular, Limb-Girdle

  • Lgmd - [Limb-Girdle Muscular Dystrophy]

  • Limb Girdle Muscle Dystrophy

  • Limb-Girdle Myopathy

Polyneuropathy
  • Polyneuropathies

Rem Sleep Behavior Disorder
  • Rapid Eye Movement Sleep Behavior Disorder

  • Rem Sleep Behaviour Disorder

  • Rapid Eye Movement Sleep Behaviour Disorder

  • Rem - [Rapid Eye Movement] Behaviour Disorder

Leprosy 3
  • Leprosy

  • Leprosy, Susceptibility To, 3

  • Hansen'S Disease

  • Leprosy, Susceptibility To

  • Hansen Disease

  • Infection Due To Mycobacterium Leprae

  • LPRS3

  • Leprosy, Type 3

  • Anaesthesia Leprosy

  • Anaesthetic Leprosy

  • Maculoanaesthetic Leprosy

  • Macular Leprosy

  • Leprosy Unspecified

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

Gaucher Disease, Type I
  • Glucocerebrosidase Deficiency

  • Acid Beta-Glucosidase Deficiency

  • Gba Deficiency

  • GD1

  • Gd I

  • Gaucher Disease, Noncerebral Juvenile

  • Gaucher Disease Type 1

  • Gaucher Disease Type I

  • Gaucher'S Disease Type I

  • Gaucher Disease

  • Gd 1

  • Non-Cerebral Juvenile Gaucher Disease

  • GD

  • Gaucher Disease 1

  • Adult Non-Neuronopathic Gaucher Disease

  • Noncerebral Juvenile Gaucher Disease

  • Type 1 Gaucher Disease

  • Gaucher Disease, Type 1

Alzheimer Disease 3
  • AD3

  • Alzheimer Disease, Type 3

  • Alzheimer Disease, Type 3, With Spastic Paraparesis And Apraxia

  • Alzheimer Disease, Type 3, With Spastic Paraparesis And Unusual Plaques

  • Alzheimer'S Disease 3

  • Alzheimer Disease, Familial, 3, With Spastic Paraparesis And Apraxia

  • Alzheimer Disease 3, Early-Onset

  • Alzheimer Disease, Familial, 3

  • Alzheimer Disease, Protection Against, Due To Apoe3-Christchurch

  • Alzheimer Disease 3, Early Onset

  • Alzheimer Disease Familial 3

  • Early-Onset Familial Alzheimer Disease 3

  • Familial Alzheimer Disease 3

  • Familial Alzheimer Disease 3 With Spastic Paraparesis And Apraxia

  • Familial Alzheimer Disease 3 With Spastic Paraparesis And Unusual Plaques

  • Alzheimer Disease, Familial, 3, With Spastic Paraparesis And Unusual Plaques

  • Alzheimer Disease, Familial, Type 3

Rett Syndrome
  • Atypical Rett Syndrome

  • RTT

  • Rett Disorder

  • Rts

  • Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use

  • Rett Syndrome, Preserved Speech Variant

  • Rett Syndrome, Atypical

  • Rett'S Disorder

  • Rett Syndrome Variant

  • Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome

  • Cerebroatrophic Hyperammonemia

  • Rett Like Syndrome

  • Rett'S Syndrome

  • Atypical Rtt

  • Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use

  • Rett Syndrome Preserved Speech Variant

  • Rett Syndrome Zappella Variant

  • Rett Syndrome, Zappella Variant

Autism Spectrum Disorder
  • Asd

  • Autism Spectrum Disorders

  • Autistic Continuum

  • Pervasive Developmental Disorder

  • Pervasive Development Disorder

  • Autistic Behavior

  • Autistic Disorder

  • Autistic

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Childhood Autism

  • Kanner Syndrome

  • Pervasive Developmental Delay Nos

  • Pervasive Developmental Disorder, Not Otherwise Specified

Toxic Encephalopathy
  • Neurotoxicity

  • Neurotoxicity Syndromes

  • Neurotoxicity Syndrome

  • Encephalopathy, Toxic

Gaucher'S Disease
  • Gaucher Disease

  • Kerasin Thesaurismosis

  • Glucocerebrosidase Deficiency

  • Glucosylceramidase Deficiency

  • Cerebroside Lipidosis Syndrome

  • Acid Beta-Glucosidase Deficiency

  • Glucosylceramide Beta-Glucosidase Deficiency

  • Acute Cerebral Gaucher Disease

  • Gaucher Splenomegaly

  • Glucocerebrosidosis

  • Glucosyl Cerebroside Lipidosis

  • Kerasin Lipoidosis

  • Lipoid Histiocytosis

  • Glocucerebrosidase Deficiency

  • Sphingolipidosis 1

  • Gaucher Syndrome

  • Gauchers Disease

  • Gd

  • Glucosylceramide Lipidosis

  • Kerasin Histiocytosis

  • Gaucher Disease, Type 1

  • Gaucher Disease, Type 2

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

Sphingolipidosis
  • Sphingolipidoses

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

Meier-Gorlin Syndrome 2
  • MGORS2

  • Meier-Gorlin Syndrome, Type 2

Epilepsy, Idiopathic Generalized 9
  • Epilepsy, Idiopathic Generalized, Susceptibility To, 9

  • EIG9

  • Epilepsy, Juvenile Myoclonic 6

  • Idiopathic Generalized Epilepsy 9

  • Epilepsy, Juvenile Myoclonic, Susceptibility To, 6

  • Susceptibility To Idiopathic Generalized Epilepsy 9

  • Juvenile Myoclonic Epilepsy 6

  • EJM6

  • Susceptibility To Juvenile Myoclonic Epilepsy 6

  • Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 9

Hereditary Ataxia
  • Sca

  • Spinocerebellar Ataxia

  • Ataxias Hereditary

  • Ataxias, Hereditary

Neuroblastoma
  • Nb

  • Neuroblastoma, Susceptibility To

  • Neuroblastomas

  • Central Neuroblastoma

Autosomal Dominant Cerebellar Ataxia
  • Spinocerebellar Ataxia

  • Adca

  • Pierre Marie Cerebellar Ataxia

  • Ataxia, Spinocerebellar

  • Sca

  • Autosomal Dominant Spinocerebellar Ataxia

  • Spinocerebellar Ataxias

Cerebellar Disease
  • Cerebellar Diseases

  • Cerebellar Dysfunction

  • Cerebellar Abnormality

  • Cerebellar Disorders

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

Fanconi Anemia, Complementation Group A
  • Fanconi Anemia

  • Fanconi Pancytopenia

  • Fanconi Anemia Complementation Group A

  • FANCA

  • Fa

  • Fanconi Panmyelopathy

  • Fanconi'S Anemia

  • Fanconi Anaemia

  • Fanconi'S Anaemia

  • Fanconi Hypoplastic Anemia

  • Estren-Dameshek Variant Of Fanconi Anemia

  • Estren-Dameshek Variant Of Fanconi Pancytopenia

  • Fanconi Anemia Estren-Dameshek Variant

  • Fanconis Anemia

Choreatic Disease
  • Chorea

  • Hereditary Chorea

Male Infertility
  • Infertility, Male

  • Infertility Male

  • Male Sterility

  • Absolute Infertility

Neurodegeneration With Brain Iron Accumulation
  • Nbia

  • Neurodegeneration With Brain Iron Accumulation Disorders

  • Neurodegeneration, With Brain Iron Accumulation

Mitochondrial Complex I Deficiency, Nuclear Type 1
  • Mitochondrial Complex I Deficiency

  • Nadh:Q(1) Oxidoreductase Deficiency

  • MC1DN1

  • Nadh-Coenzyme Q Reductase Deficiency

  • Isolated Mitochondrial Respiratory Chain Complex I Deficiency

  • Isolated Nadh-Coenzyme Q Reductase Deficiency

  • Isolated Nadh-Coq Reductase Deficiency

  • Isolated Nadh-Ubiquinone Reductase Deficiency

  • Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of

  • Nuclear Type Mitochondrial Complex I Deficiency 1

  • Isolated Complex I Deficiency

  • Complex 1 Mitochondrial Respiratory Chain Deficiency

  • Nadh Coenzyme Q Reductase Deficiency

  • Complex I Mitochondrial Respiratory Chain Deficiency

  • Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I

  • Nadh:Ubiquinone Oxidoreductase Deficiency

  • Complex I, Mitochondrial Respiratory Chain, Deficiency Of

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

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

Leber Hereditary Optic Neuropathy, Modifier Of
  • Leber Optic Atrophy

  • Leber Hereditary Optic Neuropathy

  • LHON

  • Leber'S Hereditary Optic Neuropathy

  • Leber Optic Atrophy, Susceptibility To

  • Leber'S Optic Atrophy

  • LOAM

  • Loas

  • Leber'S Disease

  • Leber'S Optic Neuropathy

  • Optic Atrophy, Hereditary, Leber

  • Lhon, Modifier Of

  • Optic Atrophy, Leber Type

  • Hereditary Optic Neuroretinopathy

  • Leber Hereditary Optic Atrophy

  • Loa

  • Optic Atrophy Leber Type

  • Leber Hereditary Optic Neuropathy, Modifier

  • Leber Hereditary Optic Neuropathy Susceptibility

  • Modifier Of Leber Hereditary Optic Neuropathy

  • Lebers Hereditary Optic Neuropathy

  • Leber Congenital Amaurosis

Bardet-Biedl Syndrome
  • Bbs

  • Biedl-Bardet Syndrome

Nervous System Disease
  • Abnormality Of The Nervous System

  • Nervous System Diseases

  • Nervous System Disorder

Myopathy
  • Muscular Diseases

  • Myopathies

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

Peripheral Nervous System Disease
  • Peripheral Neuropathy

  • Peripheral Nerve Disease

  • Peripheral Nerve Disorders

  • Neuropathy, Peripheral

  • Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Body Mass Index Quantitative Trait Locus 11
  • OBESITY

  • Obesity, Susceptibility To

  • Leanness, Inherited

  • Obesity, Susceptibility To, Bmiq11

  • Obesity, Mild, Early-Onset

  • Obesity, Association With

  • Obesity, Early-Onset, Susceptibility To

  • Obesity, Severe

  • Obesity, Severe, And Type Ii Diabetes

  • Obesity, Late-Onset

  • Obesity , Susceptibility To

  • BMIQ11

  • Obesity Bmiq11

  • Obesity, Early-Onset

  • Simple Obesity Nos

  • Excess Fat

  • Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

  • Adiposis

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

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
Rattus norvegicus PRKN RGD RGD:61797
Bos taurus PRKN VGNC VGNC:33342
Macaca mulatta PRKN VGNC VGNC:76364
Mus musculus PRKN MGD MGI:1355296
Felis catus PRKN VGNC VGNC:102495
Canis familiaris PRKN VGNC VGNC:82293
Others PRKN NCBI