PARK17
MCID: PRK052
MIFTS: 43

Parkinson Disease 17 (PARK17)

Categories: Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Parkinson Disease 17

MalaCards integrated aliases for Parkinson Disease 17:

Name: Parkinson Disease 17 57 12 72 29 13 6 70
Parkinson's Disease 17 12 15
Park17 57 72
Autosomal Dominant Parkinson Disease 17 12
Parkinson Disease, Type 17 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
levodopa-responsive
mean age of onset 50 to 52 years
incomplete, age-associated penetrance
motor fluctuation


HPO:

31
parkinson disease 17:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060897
OMIM® 57 614203
OMIM Phenotypic Series 57 PS168600
MeSH 44 D010300
MedGen 41 C3280133
UMLS 70 C3280133

Summaries for Parkinson Disease 17

UniProtKB/Swiss-Prot : 72 Parkinson disease 17: An autosomal dominant, adult-onset form of Parkinson disease. Parkinson disease is a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain.

MalaCards based summary : Parkinson Disease 17, also known as parkinson's disease 17, is related to parkinson disease, late-onset and vps35-related parkinson disease, and has symptoms including tremor, bradykinesia and resting tremor. An important gene associated with Parkinson Disease 17 is VPS35 (VPS35 Retromer Complex Component), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Signaling pathways regulating pluripotency of stem cells. Related phenotypes are dyskinesia and rigidity

Disease Ontology : 12 A late-onset Parkinson disease that has material basis in heterozygous mutation in the VPS35 gene on chromosome 16q13.

OMIM® : 57 Parkinson disease-17 is an autosomal dominant, adult-onset form of the disorder. It is phenotypically similar to idiopathic Parkinson disease (summary by Wider et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see 168600. (614203) (Updated 05-Apr-2021)

Related Diseases for Parkinson Disease 17

Diseases in the Parkinson Disease, Late-Onset family:

Parkinson Disease 1, Autosomal Dominant Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinson Disease 12 Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinson Disease 3, Autosomal Dominant Parkinson Disease 4, Autosomal Dominant
Parkinson Disease 6, Autosomal Recessive Early-Onset Parkinson Disease 7, Autosomal Recessive Early-Onset
Parkinson Disease 10 Parkinson Disease 8, Autosomal Dominant
Parkinson Disease 11, Autosomal Dominant Parkinson Disease 13, Autosomal Dominant
Parkinson Disease 14, Autosomal Recessive Parkinson Disease 16
Parkinson Disease 5, Autosomal Dominant Parkinson Disease 17
Parkinson Disease 18, Autosomal Dominant Parkinson Disease 19a, Juvenile-Onset
Parkinson Disease 20, Early-Onset Parkinson Disease 21
Parkinson Disease 22, Autosomal Dominant Parkinson Disease 23, Autosomal Recessive Early-Onset
Juvenile-Onset Parkinson's Disease Early-Onset Parkinson's Disease
Vps35-Related Parkinson Disease Hereditary Late-Onset Parkinson Disease

Diseases related to Parkinson Disease 17 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 parkinson disease, late-onset 29.9 VPS35 SOX2 SNCA POU5F1 PARK7 NFE2L2
2 vps35-related parkinson disease 11.0
3 meier-gorlin syndrome 3 10.3 VPS35 ORC6
4 alzheimer disease 13 10.2 LDHB LDHA
5 hereditary leiomyomatosis and renal cell cancer 10.2 NFE2L2 LDHA
6 pneumatosis cystoides intestinalis 10.2 SI MGAM
7 barre-lieou syndrome 10.1 SI MGAM
8 hirata disease 10.1 SI MGAM
9 miliaria 10.1 SI MGAM
10 parkinson disease 10 10.1 SNCA PARK7
11 postgastrectomy syndrome 10.1 SI MGAM
12 color agnosia 10.1 SNCA PARK7
13 postencephalitic parkinson disease 10.1 SNCA PARK7
14 acute laryngopharyngitis 10.1 SI MGAM
15 trigonitis 10.1 SI MGAM
16 chicken egg allergy 10.1 SI MGAM
17 functional gastric disease 10.0 SI MGAM
18 parkinson disease 15, autosomal recessive early-onset 10.0 VPS35 SNCA PARK7
19 kufor-rakeb syndrome 10.0 VPS35 SNCA PARK7
20 parkinson disease 3, autosomal dominant 10.0 SNCA PARK7
21 sucrase-isomaltase deficiency, congenital 10.0 SI MGAM
22 pick disease of brain 9.9 SNCA PARK7 CLU
23 nasopharyngitis 9.9 SI MGAM
24 dysgerminoma of ovary 9.9 POU5F1 NANOG
25 dementia, lewy body 9.9 VPS35 SNCA PARK7 CLU
26 malignant giant cell tumor of soft parts 9.9 POU5F1 NANOG
27 krabbe disease 9.9 SNCA SI MGAM
28 mucopolysaccharidosis iii 9.9 SNCA SI MGAM
29 movement disease 9.8 VPS35 SNCA PARK7
30 mucopolysaccharidosis-plus syndrome 9.8 SNCA SI MGAM
31 glycogen storage disease iii 9.8 SI MGAM
32 cardiomyopathy, familial hypertrophic, 25 9.7 POU5F1 NANOG
33 inflammatory bowel disease 28 9.6 SOX2 POU5F1
34 macular degeneration, age-related, 7 9.5 SOX2 POU5F1 NANOG
35 malignant teratoma 9.5 SOX2 POU5F1 NANOG
36 germ cell and embryonal cancer 9.5 SOX2 POU5F1 NANOG
37 pelizaeus-merzbacher disease 9.5 SOX2 POU5F1 NANOG
38 seminoma 9.5 SOX2 POU5F1 NANOG
39 germ cell cancer 9.4 SOX2 POU5F1 NANOG
40 tyrosinemia 9.4 SOX2 POU5F1 NFE2L2 NANOG
41 glycogen storage disease 9.1 SOX2 POU5F1 NANOG MGAM LDHA
42 disease of mental health 8.3 VPS35 SOX2 SNCA POU5F1 PARK7 NFE2L2

Graphical network of the top 20 diseases related to Parkinson Disease 17:



Diseases related to Parkinson Disease 17

Symptoms & Phenotypes for Parkinson Disease 17

Human phenotypes related to Parkinson Disease 17:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 dyskinesia 31 HP:0100660
2 rigidity 31 HP:0002063
3 akinesia 31 HP:0002304
4 postural instability 31 HP:0002172
5 parkinsonism 31 HP:0001300
6 bradykinesia 31 HP:0002067
7 resting tremor 31 HP:0002322

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
tremor
rigidity
akinesia
postural instability
parkinsonism
more

Clinical features from OMIM®:

614203 (Updated 05-Apr-2021)

UMLS symptoms related to Parkinson Disease 17:


tremor; bradykinesia; resting tremor; muscle cramp; muscle rigidity

MGI Mouse Phenotypes related to Parkinson Disease 17:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.73 CLU KEAP1 LDHA LDHB MGAM NFE2L2
2 normal MP:0002873 9.23 GSR LDHA NFE2L2 POU5F1 SNCA SOX2

Drugs & Therapeutics for Parkinson Disease 17

Search Clinical Trials , NIH Clinical Center for Parkinson Disease 17

Genetic Tests for Parkinson Disease 17

Genetic tests related to Parkinson Disease 17:

# Genetic test Affiliating Genes
1 Parkinson Disease 17 29 VPS35

Anatomical Context for Parkinson Disease 17

Publications for Parkinson Disease 17

Articles related to Parkinson Disease 17:

(show all 24)
# Title Authors PMID Year
1
Frequency of the D620N mutation in VPS35 in Parkinson disease. 57 6
22801713 2012
2
VPS35 mutation in Japanese patients with typical Parkinson's disease. 6 57
22991136 2012
3
A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. 6 57
21763483 2011
4
Autosomal dominant dopa-responsive parkinsonism in a multigenerational Swiss family. 6 57
18342564 2008
5
Replication of MAPT and SNCA, but not PARK16-18, as susceptibility genes for Parkinson's disease. 57 61
21425343 2011
6
Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease. 57
23408866 2013
7
Identification of VPS35 mutations replicated in French families with Parkinson disease. 6
22517097 2012
8
VPS35 mutations in Parkinson disease. 57
21763482 2011
9
Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease. 57
20711177 2010
10
The Role of VPS35 in the Pathobiology of Parkinson's Disease. 61
32323152 2021
11
Impaired neurogenesis in the hippocampus of an adult VPS35 mutant mouse model of Parkinson's disease through interaction with APP. 61
33636388 2021
12
An update on cellular and molecular determinants of Parkinson's disease with emphasis on the role of the retromer complex. 61
32633426 2021
13
VPS35 and the mitochondria: Connecting the dots in Parkinson's disease pathophysiology. 61
32853677 2020
14
(D620N) VPS35 causes the impairment of Wnt/β-catenin signaling cascade and mitochondrial dysfunction in a PARK17 knockin mouse model. 61
33257649 2020
15
Endosomal dysfunction in iPSC-derived neural cells from Parkinson's disease patients with VPS35 D620N. 61
33032646 2020
16
Genome-Scale Networks Link Neurodegenerative Disease Genes to α-Synuclein through Specific Molecular Pathways. 61
28131822 2017
17
Familial atypical parkinsonism with rare variant in VPS35 and FBXO7 genes: A case report. 61
27861377 2016
18
Impaired striatal dopamine release in homozygous Vps35 D620N knock-in mice. 61
28173004 2016
19
VPS35 pathogenic mutations confer no dominant toxicity but partial loss of function in Drosophila and genetically interact with parkin. 61
26251041 2015
20
Polygenic determinants of Parkinson's disease in a Chinese population. 61
25623333 2015
21
Parkinson's disease-linked mutations in VPS35 induce dopaminergic neurodegeneration. 61
24740878 2014
22
Association analysis of PARK16-18 variants and Parkinson's disease in a Chinese population. 61
24373818 2014
23
GWAS-linked GAK locus in Parkinson's disease in Han Chinese and meta-analysis. 61
22198721 2012
24
Presymptomatic hypertension is a major feature in the diagnosis of progressive supranuclear palsy. 61
9311353 1997

Variations for Parkinson Disease 17

ClinVar genetic disease variations for Parkinson Disease 17:

6 (show top 50) (show all 63)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 VPS35 NM_018206.6(VPS35):c.1858G>A (p.Asp620Asn) SNV Pathogenic 30196 rs188286943 GRCh37: 16:46696364-46696364
GRCh38: 16:46662452-46662452
2 VPS35 NM_018206.6(VPS35):c.1420C>G (p.Gln474Glu) SNV Conflicting interpretations of pathogenicity 651640 rs370401767 GRCh37: 16:46705721-46705721
GRCh38: 16:46671809-46671809
3 VPS35 NM_018206.6(VPS35):c.1895T>C (p.Ile632Thr) SNV Uncertain significance 1021992 GRCh37: 16:46696327-46696327
GRCh38: 16:46662415-46662415
4 VPS35 NM_018206.6(VPS35):c.1151A>G (p.Asn384Ser) SNV Uncertain significance 855930 GRCh37: 16:46708235-46708235
GRCh38: 16:46674323-46674323
5 VPS35 NM_018206.6(VPS35):c.2350C>A (p.Pro784Thr) SNV Uncertain significance 947902 GRCh37: 16:46694425-46694425
GRCh38: 16:46660513-46660513
6 VPS35 NM_018206.6(VPS35):c.506+4A>C SNV Uncertain significance 960311 GRCh37: 16:46714579-46714579
GRCh38: 16:46680667-46680667
7 VPS35 NM_018206.6(VPS35):c.2353G>C (p.Glu785Gln) SNV Uncertain significance 886615 GRCh37: 16:46694422-46694422
GRCh38: 16:46660510-46660510
8 VPS35 NM_018206.6(VPS35):c.-35C>G SNV Uncertain significance 886664 GRCh37: 16:46723080-46723080
GRCh38: 16:46689168-46689168
9 VPS35 NM_018206.6(VPS35):c.2211+11T>C SNV Uncertain significance 887865 GRCh37: 16:46695619-46695619
GRCh38: 16:46661707-46661707
10 VPS35 NM_018206.6(VPS35):c.946C>T (p.Pro316Ser) SNV Uncertain significance 487671 rs770029606 GRCh37: 16:46708541-46708541
GRCh38: 16:46674629-46674629
11 VPS35 NM_018206.6(VPS35):c.1679T>C (p.Ile560Thr) SNV Uncertain significance 487674 rs760128592 GRCh37: 16:46697043-46697043
GRCh38: 16:46663131-46663131
12 VPS35 NM_018206.6(VPS35):c.2210C>T (p.Ala737Val) SNV Uncertain significance 487677 rs749516404 GRCh37: 16:46695631-46695631
GRCh38: 16:46661719-46661719
13 VPS35 NM_018206.6(VPS35):c.171G>A (p.Met57Ile) SNV Uncertain significance 487669 rs183554824 GRCh37: 16:46716019-46716019
GRCh38: 16:46682107-46682107
14 VPS35 NM_018206.6(VPS35):c.1796A>G (p.His599Arg) SNV Uncertain significance 487675 rs1434487321 GRCh37: 16:46696926-46696926
GRCh38: 16:46663014-46663014
15 VPS35 NM_018206.6(VPS35):c.2320C>A (p.Leu774Met) SNV Uncertain significance 487678 rs192419029 GRCh37: 16:46694455-46694455
GRCh38: 16:46660543-46660543
16 VPS35 NM_018206.6(VPS35):c.1520A>T (p.Tyr507Phe) SNV Uncertain significance 487672 rs1555465749 GRCh37: 16:46705621-46705621
GRCh38: 16:46671709-46671709
17 VPS35 NM_018206.6(VPS35):c.723T>G (p.Ile241Met) SNV Uncertain significance 487670 rs192783364 GRCh37: 16:46711308-46711308
GRCh38: 16:46677396-46677396
18 VPS35 NM_018206.6(VPS35):c.1570C>T (p.Arg524Trp) SNV Uncertain significance 487673 rs184277092 GRCh37: 16:46702919-46702919
GRCh38: 16:46669007-46669007
19 VPS35 NM_018206.6(VPS35):c.2359G>A (p.Glu787Lys) SNV Uncertain significance 487679 rs777050595 GRCh37: 16:46694416-46694416
GRCh38: 16:46660504-46660504
20 VPS35 NM_018206.6(VPS35):c.1819A>G (p.Met607Val) SNV Uncertain significance 487676 rs1555523076 GRCh37: 16:46696903-46696903
GRCh38: 16:46662991-46662991
21 VPS35 NM_018206.6(VPS35):c.2073C>T (p.His691=) SNV Uncertain significance 887866 GRCh37: 16:46695768-46695768
GRCh38: 16:46661856-46661856
22 VPS35 NM_018206.6(VPS35):c.1900A>G (p.Thr634Ala) SNV Uncertain significance 887867 GRCh37: 16:46696322-46696322
GRCh38: 16:46662410-46662410
23 VPS35 NM_018206.6(VPS35):c.993G>T (p.Gln331His) SNV Uncertain significance 961428 GRCh37: 16:46708494-46708494
GRCh38: 16:46674582-46674582
24 VPS35 NM_018206.6(VPS35):c.*276A>C SNV Uncertain significance 319285 rs886052009 GRCh37: 16:46694108-46694108
GRCh38: 16:46660196-46660196
25 VPS35 NM_018206.6(VPS35):c.*617A>G SNV Uncertain significance 319268 rs746602580 GRCh37: 16:46693767-46693767
GRCh38: 16:46659855-46659855
26 VPS35 NM_018206.6(VPS35):c.1488T>C (p.His496=) SNV Uncertain significance 319291 rs776877370 GRCh37: 16:46705653-46705653
GRCh38: 16:46671741-46671741
27 VPS35 NM_018206.6(VPS35):c.-19C>T SNV Uncertain significance 319297 rs573920049 GRCh37: 16:46723064-46723064
GRCh38: 16:46689152-46689152
28 VPS35 NM_018206.6(VPS35):c.851G>A (p.Arg284Gln) SNV Uncertain significance 319294 rs771276024 GRCh37: 16:46710558-46710558
GRCh38: 16:46676646-46676646
29 VPS35 NM_018206.6(VPS35):c.*401G>A SNV Uncertain significance 319269 rs553790361 GRCh37: 16:46693983-46693983
GRCh38: 16:46660071-46660071
30 VPS35 NM_018206.6(VPS35):c.1035G>A (p.Glu345=) SNV Uncertain significance 319293 rs563975281 GRCh37: 16:46708351-46708351
GRCh38: 16:46674439-46674439
31 VPS35 NM_018206.6(VPS35):c.1912A>T (p.Met638Leu) SNV Uncertain significance 319290 rs144997996 GRCh37: 16:46696310-46696310
GRCh38: 16:46662398-46662398
32 VPS35 NM_018206.6(VPS35):c.*380G>A SNV Uncertain significance 319270 rs886052004 GRCh37: 16:46694004-46694004
GRCh38: 16:46660092-46660092
33 VPS35 NM_018206.6(VPS35):c.89T>A (p.Met30Lys) SNV Uncertain significance 319296 rs145147781 GRCh37: 16:46717433-46717433
GRCh38: 16:46683521-46683521
34 VPS35 NM_018206.6(VPS35):c.1391T>C (p.Val464Ala) SNV Uncertain significance 472499 rs1555465774 GRCh37: 16:46705750-46705750
GRCh38: 16:46671838-46671838
35 VPS35 NM_018206.6(VPS35):c.1313G>A (p.Cys438Tyr) SNV Uncertain significance 571710 rs745893720 GRCh37: 16:46706232-46706232
GRCh38: 16:46672320-46672320
36 VPS35 NM_018206.6(VPS35):c.1550T>G (p.Phe517Cys) SNV Uncertain significance 579180 rs1567264486 GRCh37: 16:46702939-46702939
GRCh38: 16:46669027-46669027
37 VPS35 NM_018206.6(VPS35):c.1480T>A (p.Phe494Ile) SNV Uncertain significance 838576 GRCh37: 16:46705661-46705661
GRCh38: 16:46671749-46671749
38 VPS35 NM_018206.6(VPS35):c.1809A>T (p.Ala603=) SNV Uncertain significance 884711 GRCh37: 16:46696913-46696913
GRCh38: 16:46663001-46663001
39 VPS35 NM_018206.6(VPS35):c.1525-5G>T SNV Uncertain significance 884712 GRCh37: 16:46702969-46702969
GRCh38: 16:46669057-46669057
40 VPS35 NM_018206.6(VPS35):c.648G>A (p.Leu216=) SNV Uncertain significance 885652 GRCh37: 16:46712927-46712927
GRCh38: 16:46679015-46679015
41 VPS35 NM_018206.6(VPS35):c.505G>C (p.Asp169His) SNV Uncertain significance 885653 GRCh37: 16:46714584-46714584
GRCh38: 16:46680672-46680672
42 VPS35 NM_018206.6(VPS35):c.*345T>G SNV Uncertain significance 886610 GRCh37: 16:46694039-46694039
GRCh38: 16:46660127-46660127
43 VPS35 NM_018206.6(VPS35):c.*575A>T SNV Uncertain significance 885587 GRCh37: 16:46693809-46693809
GRCh38: 16:46659897-46659897
44 VPS35 NM_018206.6(VPS35):c.*283C>A SNV Uncertain significance 886612 GRCh37: 16:46694101-46694101
GRCh38: 16:46660189-46660189
45 VPS35 NM_018206.6(VPS35):c.*161C>T SNV Uncertain significance 886613 GRCh37: 16:46694223-46694223
GRCh38: 16:46660311-46660311
46 VPS35 NM_018206.6(VPS35):c.*34A>G SNV Likely benign 886614 GRCh37: 16:46694350-46694350
GRCh38: 16:46660438-46660438
47 VPS35 NM_018206.6(VPS35):c.*289C>T SNV Likely benign 886611 GRCh37: 16:46694095-46694095
GRCh38: 16:46660183-46660183
48 VPS35 NM_018206.6(VPS35):c.1317T>C (p.Tyr439=) SNV Likely benign 884713 GRCh37: 16:46706228-46706228
GRCh38: 16:46672316-46672316
49 VPS35 NM_018206.6(VPS35):c.1020A>G (p.Gln340=) SNV Likely benign 704463 rs188883365 GRCh37: 16:46708366-46708366
GRCh38: 16:46674454-46674454
50 VPS35 NM_018206.6(VPS35):c.945A>T (p.Gly315=) SNV Likely benign 539748 rs144346159 GRCh37: 16:46708542-46708542
GRCh38: 16:46674630-46674630

UniProtKB/Swiss-Prot genetic disease variations for Parkinson Disease 17:

72
# Symbol AA change Variation ID SNP ID
1 VPS35 p.Asp620Asn VAR_066659 rs188286943

Expression for Parkinson Disease 17

Search GEO for disease gene expression data for Parkinson Disease 17.

Pathways for Parkinson Disease 17

GO Terms for Parkinson Disease 17

Cellular components related to Parkinson Disease 17 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.61 VPS35 SI PRDX1 PARK7 MGAM LDHB
2 cytosol GO:0005829 9.44 VPS35 TNNT2 SOX2 SNCA PRDX1 POU5F1
3 inclusion body GO:0016234 9.16 SNCA KEAP1

Biological processes related to Parkinson Disease 17 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.95 SNCA PRDX1 LDHB LDHA GSR
2 positive regulation of gene expression GO:0010628 9.85 VPS35 POU5F1 PARK7 NFE2L2 CLU
3 carbohydrate metabolic process GO:0005975 9.78 SI MGAM LDHB LDHA
4 cellular oxidant detoxification GO:0098869 9.67 PRDX1 PARK7 GSR
5 negative regulation of neuron death GO:1901215 9.61 VPS35 SNCA PARK7
6 somatic stem cell population maintenance GO:0035019 9.58 SOX2 POU5F1 NANOG
7 pyruvate metabolic process GO:0006090 9.57 LDHB LDHA
8 regulation of neuron death GO:1901214 9.56 SNCA CLU
9 carboxylic acid metabolic process GO:0019752 9.54 LDHB LDHA
10 cell redox homeostasis GO:0045454 9.54 PRDX1 NFE2L2 GSR
11 negative regulation of hydrogen peroxide-induced cell death GO:1903206 9.52 PARK7 NFE2L2
12 synaptic transmission, dopaminergic GO:0001963 9.51 SNCA PARK7
13 negative regulation of cell death GO:0060548 9.46 VPS35 PARK7 NFE2L2 CLU
14 polysaccharide digestion GO:0044245 9.32 SI MGAM
15 dopamine uptake involved in synaptic transmission GO:0051583 9.26 SNCA PARK7
16 endodermal cell fate specification GO:0001714 9.13 SOX2 POU5F1 NANOG
17 cellular response to oxidative stress GO:0034599 9.1 SNCA PRDX1 PARK7 NFE2L2 KEAP1 GSR

Molecular functions related to Parkinson Disease 17 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.95 TNNT2 SNCA PRDX1 PARK7 LDHB LDHA
2 oxidoreductase activity GO:0016491 9.77 SNCA PRDX1 LDHB LDHA GSR
3 transcription factor binding GO:0008134 9.73 POU5F1 PARK7 NFE2L2 KEAP1
4 cuprous ion binding GO:1903136 9.32 SNCA PARK7
5 peroxiredoxin activity GO:0051920 9.26 PRDX1 PARK7
6 alpha-1,4-glucosidase activity GO:0004558 9.16 SI MGAM
7 transcription regulatory region sequence-specific DNA binding GO:0000976 9.02 SOX2 SNCA POU5F1 NFE2L2 NANOG
8 L-lactate dehydrogenase activity GO:0004459 8.96 LDHB LDHA

Sources for Parkinson Disease 17

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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