PARK20
MCID: PRK065
MIFTS: 44

Parkinson Disease 20, Early-Onset (PARK20)

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

Aliases & Classifications for Parkinson Disease 20, Early-Onset

MalaCards integrated aliases for Parkinson Disease 20, Early-Onset:

Name: Parkinson Disease 20, Early-Onset 57 72 29 6 70
Parkinson's Disease 20 12 15
Park20 57 72
Parkinson Disease, Type 20, Early-Onset 39
Early-Onset Parkinson's Disease 20 12
Early-Onset Parkinson Disease 20 12

Characteristics:

OMIM®:

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

Miscellaneous:
progressive disorder
l-dopa-induced dyskinesias
onset of parkinsonism in teens or early twenties


HPO:

31
parkinson disease 20, early-onset:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



External Ids:

Disease Ontology 12 DOID:0060898
OMIM® 57 615530
OMIM Phenotypic Series 57 PS168600
MeSH 44 D020734
UMLS 70 C3809824

Summaries for Parkinson Disease 20, Early-Onset

UniProtKB/Swiss-Prot : 72 Parkinson disease 20, early-onset: An early-onset form of Parkinson disease, 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. PARK20 is characterized by young adult-onset of parkinsonism. Additional features may include seizures, cognitive decline, abnormal eye movements, and dystonia.

MalaCards based summary : Parkinson Disease 20, Early-Onset, also known as parkinson's disease 20, is related to parkinsonism and amyotrophic lateral sclerosis 11, and has symptoms including tremor, bradykinesia and muscle rigidity. An important gene associated with Parkinson Disease 20, Early-Onset is SYNJ1 (Synaptojanin 1), and among its related pathways/superpathways are Metabolism and Glycerophospholipid biosynthesis. Affiliated tissues include eye, and related phenotypes are mental deterioration and dysarthria

Disease Ontology : 12 An early-onset Parkinson disease that has material basis in homozygous mutation in the SYNJ1 gene on chromosome 21q22.

OMIM® : 57 Parkinson disease-20 is an autosomal recessive neurodegenerative disorder characterized by young adult-onset of parkinsonism. Additional features may include seizures, cognitive decline, abnormal eye movements, and dystonia (summary by Krebs et al., 2013 and Quadri et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (168600). (615530) (Updated 05-Apr-2021)

Related Diseases for Parkinson Disease 20, Early-Onset

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 20, Early-Onset via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 parkinsonism 10.2
2 amyotrophic lateral sclerosis 11 10.0 SYNJ1 FIG4
3 yunis-varon syndrome 10.0 SYNJ1 FIG4
4 charcot-marie-tooth disease, type 4b1 9.9 MTMR7 FIG4
5 mild cognitive impairment 9.9
6 dystonia 9.9
7 charcot-marie-tooth disease, type 4j 9.9 SYNJ1 SACM1L FIG4
8 myopathy, centronuclear, x-linked 9.9 SACM1L MTMR7
9 lowe oculocerebrorenal syndrome 9.8 SYNJ1 SACM1L INPP5E
10 charcot-marie-tooth disease, type 4b2 9.7 MTMR7 FIG4
11 developmental and epileptic encephalopathy 53 9.4 SYNJ1 SACM1L PI4K2B MTMR7 FIG4
12 macrocephaly/autism syndrome 8.7 PIP4K2C PI4K2B PI4K2A MTMR7 INPP5K INPP5E
13 joubert syndrome 1 8.3 SYNJ1 SACM1L PIP4K2C PI4K2A MTMR7 INPP5K

Graphical network of the top 20 diseases related to Parkinson Disease 20, Early-Onset:



Diseases related to Parkinson Disease 20, Early-Onset

Symptoms & Phenotypes for Parkinson Disease 20, Early-Onset

Human phenotypes related to Parkinson Disease 20, Early-Onset:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 mental deterioration 31 occasional (7.5%) HP:0001268
2 dysarthria 31 HP:0001260
3 tremor 31 HP:0001337
4 dysphagia 31 HP:0002015
5 dystonia 31 HP:0001332
6 weak voice 31 HP:0001621
7 rigidity 31 HP:0002063
8 postural instability 31 HP:0002172
9 parkinsonism 31 HP:0001300
10 bradykinesia 31 HP:0002067
11 supranuclear gaze palsy 31 HP:0000605
12 shuffling gait 31 HP:0002362
13 staring gaze 31 HP:0025401
14 eyelid apraxia 31 HP:0000658

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
dysarthria
tremor
dystonia
rigidity
postural instability
more
Head And Neck Eyes:
supranuclear gaze palsy
staring gaze
eyelid apraxia
saccadic pursuit
jerky saccades

Head And Neck Mouth:
chin tremor

Abdomen Gastrointestinal:
dysphagia

Head And Neck Face:
masked facies

Clinical features from OMIM®:

615530 (Updated 05-Apr-2021)

UMLS symptoms related to Parkinson Disease 20, Early-Onset:


tremor; bradykinesia; muscle rigidity

GenomeRNAi Phenotypes related to Parkinson Disease 20, Early-Onset according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 9.02 INPP5K PI4K2B
2 Decreased viability GR00221-A-3 9.02 PI4K2B
3 Decreased viability GR00249-S 9.02 INPP5K
4 Decreased viability GR00402-S-2 9.02 PI4K2B

Drugs & Therapeutics for Parkinson Disease 20, Early-Onset

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Do Facial Expression Recognition Disorder and Mirror Neurons Subtend Apathy in Parkinson's Disease? Unknown status NCT01315405

Search NIH Clinical Center for Parkinson Disease 20, Early-Onset

Genetic Tests for Parkinson Disease 20, Early-Onset

Genetic tests related to Parkinson Disease 20, Early-Onset:

# Genetic test Affiliating Genes
1 Parkinson Disease 20, Early-Onset 29 SYNJ1

Anatomical Context for Parkinson Disease 20, Early-Onset

MalaCards organs/tissues related to Parkinson Disease 20, Early-Onset:

40
Eye

Publications for Parkinson Disease 20, Early-Onset

Articles related to Parkinson Disease 20, Early-Onset:

(show all 16)
# Title Authors PMID Year
1
Identification of a novel homozygous mutation Arg459Pro in SYNJ1 gene of an Indian family with autosomal recessive juvenile Parkinsonism. 6 57
27496670 2016
2
The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures. 6 57
23804563 2013
3
Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism. 57 6
23804577 2013
4
Novel compound heterozygous synaptojanin-1 mutation causes l-dopa-responsive dystonia-parkinsonism syndrome. 6
27869329 2017
5
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline. 6
27435091 2016
6
Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology. 6
25316601 2015
7
Absence of Sac2/INPP5F enhances the phenotype of a Parkinson's disease mutation of synaptojanin 1. 61
32424101 2020
8
A novel homozygous SYNJ1 mutation in two siblings with typical Parkinson's disease. 61
31751865 2019
9
PERK-Mediated Unfolded Protein Response Activation and Oxidative Stress in PARK20 Fibroblasts. 61
31316342 2019
10
Alteration of endosomal trafficking is associated with early-onset parkinsonism caused by SYNJ1 mutations. 61
29515184 2018
11
Parkinson's Disease-Associated LRRK2 Hyperactive Kinase Mutant Disrupts Synaptic Vesicle Trafficking in Ventral Midbrain Neurons. 61
29054882 2017
12
Non-motor symptoms and cardiac innervation in SYNJ1-related parkinsonism. 61
26725142 2016
13
Olfaction in Homozygous and Heterozygous SYNJ1 Arg258Gln Mutation Carriers. 61
30363595 2015
14
Mutational analysis of SYNJ1 gene (PARK20) in Parkinson's disease in a Taiwanese population. 61
26149920 2015
15
PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family. 61
24816432 2014
16
The recurrent mutation Arg258Gln in SYNJ1 (PARK20) is not a common cause of Parkinson's disease. 61
24609975 2014

Variations for Parkinson Disease 20, Early-Onset

ClinVar genetic disease variations for Parkinson Disease 20, Early-Onset:

6 (show top 50) (show all 419)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SYNJ1 NM_203446.2(SYNJ1):c.773G>A (p.Arg258Gln) SNV Pathogenic 88844 rs398122403 GRCh37: 21:34067416-34067416
GRCh38: 21:32695106-32695106
2 SYNJ1 NM_003895.3(SYNJ1):c.1376G>C (p.Arg459Pro) SNV Pathogenic 393356 rs1060499619 GRCh37: 21:34053900-34053900
GRCh38: 21:32681590-32681590
3 SYNJ1 NM_203446.2(SYNJ1):c.512G>A (p.Trp171Ter) SNV Pathogenic 549503 rs1555907463 GRCh37: 21:34072232-34072232
GRCh38: 21:32699922-32699922
4 SYNJ1 NM_003895.3(SYNJ1):c.24G>A (p.Trp8Ter) SNV Pathogenic 575322 rs1569147057 GRCh37: 21:34100328-34100328
GRCh38: 21:32728017-32728017
5 SYNJ1 NM_203446.3(SYNJ1):c.2793_2797del (p.Arg932fs) Deletion Pathogenic 570902 rs778394516 GRCh37: 21:34028997-34029001
GRCh38: 21:32656687-32656691
6 SYNJ1 NC_000021.9:g.(?_32727926)_(32728060_?)del Deletion Pathogenic 833242 GRCh37: 21:34100237-34100371
GRCh38:
7 SYNJ1 NM_203446.3(SYNJ1):c.3126del (p.Ser1043fs) Deletion Pathogenic 848199 GRCh37: 21:34018824-34018824
GRCh38: 21:32646514-32646514
8 SYNJ1 NM_203446.3(SYNJ1):c.3457del (p.Gly1152_Val1153insTer) Deletion Pathogenic 950404 GRCh37: 21:34015741-34015741
GRCh38: 21:32643431-32643431
9 SYNJ1 NM_203446.3(SYNJ1):c.789+1G>A SNV Likely pathogenic 962464 GRCh37: 21:34066537-34066537
GRCh38: 21:32694227-32694227
10 SYNJ1 NM_003895.3(SYNJ1):c.1318-2A>G SNV Likely pathogenic 570738 rs1569086116 GRCh37: 21:34053960-34053960
GRCh38: 21:32681650-32681650
11 SYNJ1 NM_203446.3(SYNJ1):c.2254del (p.Asp752fs) Deletion Likely pathogenic 992917 GRCh37: 21:34037273-34037273
GRCh38: 21:32664963-32664963
12 SYNJ1 NM_203446.3(SYNJ1):c.577T>C (p.Tyr193His) SNV Uncertain significance 992918 GRCh37: 21:34067495-34067495
GRCh38: 21:32695185-32695185
13 SYNJ1 NM_003895.3(SYNJ1):c.3806C>T (p.Thr1269Met) SNV Uncertain significance 478348 rs752805765 GRCh37: 21:34011989-34011989
GRCh38: 21:32639679-32639679
14 SYNJ1 NM_003895.3(SYNJ1):c.3808T>C (p.Ser1270Pro) SNV Uncertain significance 478349 rs767695759 GRCh37: 21:34011987-34011987
GRCh38: 21:32639677-32639677
15 SYNJ1 NM_003895.3(SYNJ1):c.76A>G (p.Arg26Gly) SNV Uncertain significance 544546 rs988950141 GRCh37: 21:34100276-34100276
GRCh38: 21:32727965-32727965
16 SYNJ1 NM_003895.3(SYNJ1):c.3954T>A (p.Asn1318Lys) SNV Uncertain significance 544567 rs1555888329 GRCh37: 21:34011296-34011296
GRCh38: 21:32638986-32638986
17 SYNJ1 NM_001160306.2(SYNJ1):c.3376+658C>T SNV Uncertain significance 544570 rs569046864 GRCh37: 21:34017298-34017298
GRCh38: 21:32644988-32644988
18 SYNJ1 NM_003895.3(SYNJ1):c.3332C>A (p.Pro1111Gln) SNV Uncertain significance 565611 rs771524798 GRCh37: 21:34018735-34018735
GRCh38: 21:32646425-32646425
19 SYNJ1 NM_003895.3(SYNJ1):c.1625G>A (p.Arg542His) SNV Uncertain significance 574661 rs756697570 GRCh37: 21:34050957-34050957
GRCh38: 21:32678647-32678647
20 SYNJ1 NM_003895.3(SYNJ1):c.3698C>G (p.Ala1233Gly) SNV Uncertain significance 642561 rs779766895 GRCh37: 21:34014213-34014213
GRCh38: 21:32641903-32641903
21 SYNJ1 NM_003895.3(SYNJ1):c.2684C>A (p.Thr895Asn) SNV Uncertain significance 644595 rs1191504880 GRCh37: 21:34029325-34029325
GRCh38: 21:32657015-32657015
22 SYNJ1 NM_003895.3(SYNJ1):c.700G>A (p.Ala234Thr) SNV Uncertain significance 653212 rs774367309 GRCh37: 21:34067489-34067489
GRCh38: 21:32695179-32695179
23 SYNJ1 NM_003895.3(SYNJ1):c.3940G>A (p.Gly1314Ser) SNV Uncertain significance 658700 rs1601231173 GRCh37: 21:34011310-34011310
GRCh38: 21:32639000-32639000
24 SYNJ1 NM_203446.2(SYNJ1):c.*127G>C SNV Uncertain significance 662385 rs1342453394 GRCh37: 21:34003988-34003988
GRCh38: 21:32631678-32631678
25 SYNJ1 NM_003895.3(SYNJ1):c.294A>G (p.Ala98=) SNV Uncertain significance 664700 rs749212329 GRCh37: 21:34074305-34074305
GRCh38: 21:32701995-32701995
26 SYNJ1 NM_203446.3(SYNJ1):c.*576_*584del Deletion Uncertain significance 836370 GRCh37: 21:34003531-34003539
GRCh38: 21:32631221-32631229
27 SYNJ1 NM_203446.3(SYNJ1):c.254T>A (p.Met85Lys) SNV Uncertain significance 839553 GRCh37: 21:34072373-34072373
GRCh38: 21:32700063-32700063
28 SYNJ1 NM_203446.3(SYNJ1):c.3520C>T (p.Arg1174Cys) SNV Uncertain significance 843574 GRCh37: 21:34014274-34014274
GRCh38: 21:32641964-32641964
29 SYNJ1 NM_203446.3(SYNJ1):c.1126A>G (p.Ser376Gly) SNV Uncertain significance 844134 GRCh37: 21:34056422-34056422
GRCh38: 21:32684112-32684112
30 SYNJ1 NM_203446.3(SYNJ1):c.3547C>G (p.Leu1183Val) SNV Uncertain significance 849387 GRCh37: 21:34014247-34014247
GRCh38: 21:32641937-32641937
31 SYNJ1 NM_203446.3(SYNJ1):c.3584G>C (p.Arg1195Thr) SNV Uncertain significance 850502 GRCh37: 21:34014210-34014210
GRCh38: 21:32641900-32641900
32 SYNJ1 NM_203446.3(SYNJ1):c.220A>G (p.Met74Val) SNV Uncertain significance 852144 GRCh37: 21:34072407-34072407
GRCh38: 21:32700097-32700097
33 SYNJ1 NM_203446.3(SYNJ1):c.1835C>A (p.Ala612Asp) SNV Uncertain significance 854051 GRCh37: 21:34038860-34038860
GRCh38: 21:32666550-32666550
34 SYNJ1 NM_203446.3(SYNJ1):c.1349C>A (p.Ala450Glu) SNV Uncertain significance 854207 GRCh37: 21:34053810-34053810
GRCh38: 21:32681500-32681500
35 SYNJ1 NM_203446.3(SYNJ1):c.*807A>G SNV Uncertain significance 858730 GRCh37: 21:34003308-34003308
GRCh38: 21:32630998-32630998
36 SYNJ1 NM_203446.3(SYNJ1):c.407G>A (p.Gly136Asp) SNV Uncertain significance 862230 GRCh37: 21:34072220-34072220
GRCh38: 21:32699910-32699910
37 SYNJ1 NM_203446.3(SYNJ1):c.3364C>T (p.Pro1122Ser) SNV Uncertain significance 936291 GRCh37: 21:34017983-34017983
GRCh38: 21:32645673-32645673
38 SYNJ1 NM_203446.3(SYNJ1):c.1717G>C (p.Glu573Gln) SNV Uncertain significance 939879 GRCh37: 21:34045659-34045659
GRCh38: 21:32673349-32673349
39 SYNJ1 NM_203446.3(SYNJ1):c.592C>A (p.Gln198Lys) SNV Uncertain significance 940408 GRCh37: 21:34067480-34067480
GRCh38: 21:32695170-32695170
40 SYNJ1 NM_203446.3(SYNJ1):c.1961C>T (p.Ala654Val) SNV Uncertain significance 945015 GRCh37: 21:34038437-34038437
GRCh38: 21:32666127-32666127
41 SYNJ1 NM_203446.3(SYNJ1):c.3181G>C (p.Val1061Leu) SNV Uncertain significance 948127 GRCh37: 21:34018769-34018769
GRCh38: 21:32646459-32646459
42 SYNJ1 NM_203446.3(SYNJ1):c.3481C>G (p.Pro1161Ala) SNV Uncertain significance 950300 GRCh37: 21:34014441-34014441
GRCh38: 21:32642131-32642131
43 SYNJ1 NM_203446.3(SYNJ1):c.3145_3147dup (p.Ser1049dup) Duplication Uncertain significance 950573 GRCh37: 21:34018802-34018803
GRCh38: 21:32646492-32646493
44 SYNJ1 NM_203446.3(SYNJ1):c.2609T>C (p.Ile870Thr) SNV Uncertain significance 950655 GRCh37: 21:34029183-34029183
GRCh38: 21:32656873-32656873
45 SYNJ1 NM_203446.3(SYNJ1):c.-29G>A SNV Uncertain significance 951416 GRCh37: 21:34100263-34100263
GRCh38: 21:32727952-32727952
46 SYNJ1 NM_203446.3(SYNJ1):c.*602G>A SNV Uncertain significance 951973 GRCh37: 21:34003513-34003513
GRCh38: 21:32631203-32631203
47 SYNJ1 NM_203446.3(SYNJ1):c.*709C>T SNV Uncertain significance 951974 GRCh37: 21:34003406-34003406
GRCh38: 21:32631096-32631096
48 SYNJ1 NM_203446.3(SYNJ1):c.1846C>A (p.Gln616Lys) SNV Uncertain significance 952808 GRCh37: 21:34038849-34038849
GRCh38: 21:32666539-32666539
49 SYNJ1 NM_203446.3(SYNJ1):c.*704C>G SNV Uncertain significance 953612 GRCh37: 21:34003411-34003411
GRCh38: 21:32631101-32631101
50 SYNJ1 NM_203446.3(SYNJ1):c.1042C>A (p.His348Asn) SNV Uncertain significance 956460 GRCh37: 21:34058134-34058134
GRCh38: 21:32685824-32685824

UniProtKB/Swiss-Prot genetic disease variations for Parkinson Disease 20, Early-Onset:

72
# Symbol AA change Variation ID SNP ID
1 SYNJ1 p.Arg219Gln VAR_070905 rs398122403
2 SYNJ1 p.Arg420Pro VAR_078803 rs106049961

Expression for Parkinson Disease 20, Early-Onset

Search GEO for disease gene expression data for Parkinson Disease 20, Early-Onset.

Pathways for Parkinson Disease 20, Early-Onset

Pathways related to Parkinson Disease 20, Early-Onset according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.63 SYNJ1 SACM1L PIP4K2C PI4K2B PI4K2A MTMR7
2
Show member pathways
12.54 SYNJ1 SACM1L PIP4K2C PI4K2B PI4K2A MTMR7
3
Show member pathways
12.18 SYNJ1 SACM1L PIP4K2C PI4K2B PI4K2A MTMR7
4
Show member pathways
11.54 SYNJ1 SACM1L PIP4K2C PI4K2B PI4K2A MTMR7
5 10.86 SYNJ1 SACM1L INPP5K INPP5E

GO Terms for Parkinson Disease 20, Early-Onset

Cellular components related to Parkinson Disease 20, Early-Onset according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.5 SYNJ1 PIP4K2C PI4K2B PI4K2A MTMR7 INPP5K
2 neuron projection GO:0043005 9.33 SYNJ1 PI4K2A INPP5K
3 ruffle GO:0001726 9.26 INPP5K INPP5E
4 trans-Golgi network GO:0005802 8.8 PI4K2B PI4K2A INPP5K

Biological processes related to Parkinson Disease 20, Early-Onset according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol metabolic process GO:0046488 9.56 SYNJ1 PIP4K2C INPP5E FIG4
2 phosphatidylinositol phosphorylation GO:0046854 9.5 PIP4K2C PI4K2B PI4K2A
3 inositol phosphate dephosphorylation GO:0046855 9.46 SYNJ1 MTMR7 INPP5K INPP5E
4 phosphatidylinositol dephosphorylation GO:0046856 9.43 SYNJ1 SACM1L MTMR7 INPP5K INPP5E FIG4
5 endosome organization GO:0007032 9.4 PI4K2B PI4K2A
6 negative regulation of insulin receptor signaling pathway GO:0046627 9.37 PIP4K2C INPP5K
7 phosphatidylinositol biosynthetic process GO:0006661 9.28 SYNJ1 SACM1L PIP4K2C PI4K2B PI4K2A MTMR7

Molecular functions related to Parkinson Disease 20, Early-Onset according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.95 SYNJ1 SACM1L MTMR7 INPP5K INPP5E FIG4
2 inositol-1,4,5-trisphosphate 5-phosphatase activity GO:0052658 9.46 SYNJ1 INPP5K
3 1-phosphatidylinositol 4-kinase activity GO:0004430 9.43 PI4K2B PI4K2A
4 phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity GO:0004439 9.43 SYNJ1 INPP5K INPP5E
5 inositol-polyphosphate 5-phosphatase activity GO:0004445 9.4 INPP5K INPP5E
6 phosphatidylinositol phosphate 5-phosphatase activity GO:0034595 9.37 SYNJ1 INPP5K
7 phosphoric ester hydrolase activity GO:0042578 9.33 SYNJ1 SACM1L FIG4
8 phosphatidylinositol bisphosphate phosphatase activity GO:0034593 9.32 SACM1L FIG4
9 phosphatidylinositol-4-phosphate phosphatase activity GO:0043812 9.13 SYNJ1 SACM1L FIG4
10 phosphatidylinositol-3-phosphatase activity GO:0004438 8.92 SYNJ1 SACM1L MTMR7 FIG4

Sources for Parkinson Disease 20, Early-Onset

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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