rs751037529
|
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|
0.810 |
GeneticVariation
|
BEFREE |
The homozygous variant, c.850G>C (p.G284R), in the parkin gene is possibly responsible for AR-JP in this pedigree.
|
27177722 |
2016 |
rs34424986
|
|
Carcinoma of lung
|
|
0.720 |
GeneticVariation
|
BEFREE |
Among all lung cancer-linked mutants that we tested, A46T Parkin failed to translocate onto mitochondria and could not recruit downstream mitophagic regulators, including optineurin (OPTN) and TFEB, whereas N254S and R275W Parkin displayed slower mitochondrial translocation than WT Parkin.
|
31285534 |
2020 |
rs34424986
|
|
Carcinoma of lung
|
|
0.720 |
GeneticVariation
|
BEFREE |
The effect size for PARK2 c.823C>T (odds ratio = 5.24) in white individuals was larger than those reported for variants from lung cancer genome-wide association studies.
|
25640678 |
2015 |
rs368134308
|
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|
0.720 |
GeneticVariation
|
BEFREE |
Furthermore, 14-3-3eta could bind to the linker region of parkin but not parkin with ARJP-causing R42P, K161N, and T240R mutations.
|
16096643 |
2006 |
rs368134308
|
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|
0.720 |
GeneticVariation
|
BEFREE |
Although a single mutation that causes an Arg to Pro substitution at position 42 of the Ubl domain (the Arg 42 mutation) has been identified in AR-JP patients, the function of this domain is not clear.
|
12634850 |
2003 |
rs137853055
|
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|
0.710 |
GeneticVariation
|
BEFREE |
In the present study, we identified two types of point mutations (Thr240Arg and Gln311Stop) involving exons 6 and 8 in the parkin gene of the AR-JP patients from two Turkish families.
|
9731209 |
1998 |
rs34424986
|
|
Young onset Parkinson disease
|
|
0.710 |
GeneticVariation
|
BEFREE |
The compound heterozygous mutation c.951G>C (p.G284R) and c.924C>T (p.R275W) is the pathogenic factor in this EOPD Uyghur family.
|
24831986 |
2014 |
rs1801474
|
|
Parkinson Disease
|
|
0.050 |
GeneticVariation
|
BEFREE |
The IVS4 + 30T>G, Ser167Asn (G>A) and Val380Leu (G>C) polymorphisms appeared to alter element concentrations in PD.
|
31512170 |
2020 |
rs1801474
|
|
Parkinson Disease
|
|
0.050 |
GeneticVariation
|
BEFREE |
To study the role of PARKIN polymorphisms as risk factors for PD in a genetically homogeneous northeastern Mexican population, four previously described coding polymorphisms (Ser167Asn, Val380Leu, Arg366Trp, and Asp394Asn) were analyzed by using the PCR-RFLP technique.
|
19909784 |
2010 |
rs1801474
|
|
Parkinson Disease
|
|
0.050 |
GeneticVariation
|
BEFREE |
We analysed Ser167Asn in 116 patients with sporadic PD and 124 controls, matched for age and gender.
|
12584415 |
2003 |
rs1801474
|
|
Parkinson Disease
|
|
0.050 |
GeneticVariation
|
BEFREE |
In order to analyse the association of PD with these and two previously described polymorphisms (1281 G/A, Asp394Asn, and 601 G/A, Ser167Asn) we genotyped 105 patients and 150 healthy controls.
|
12165399 |
2002 |
rs1801474
|
|
Parkinson Disease
|
|
0.050 |
GeneticVariation
|
BEFREE |
To study the potential involvement of the parkin gene in development of non-hereditary idiopathic PD, a codon 167 serine/asparagine (167S/N) polymorphism located in its exon 4 was analyzed by direct sequencing in 71 patients with sporadic PD and 109 age-matched non-PD controls.
|
10511432 |
1999 |
rs1801582
|
|
Parkinson Disease
|
|
0.030 |
GeneticVariation
|
BEFREE |
The IVS4 + 30T>G, Ser167Asn (G>A) and Val380Leu (G>C) polymorphisms appeared to alter element concentrations in PD.
|
31512170 |
2020 |
rs1801582
|
|
Parkinson Disease
|
|
0.030 |
GeneticVariation
|
BEFREE |
Our results indicate that co-occurrence of G/G V380L PARK2 and G/G rs2306604 TFAM on the prooxidative HV cluster background can contribute to PD risk.
|
22361577 |
2012 |
rs1801582
|
|
Parkinson Disease
|
|
0.030 |
GeneticVariation
|
BEFREE |
Furthermore, only stratified subanalyses detected any genetic association between the V380L common coding polymorphism and PD.
|
14639672 |
2003 |
rs1018001612
|
|
Microcephaly
|
|
0.020 |
GeneticVariation
|
BEFREE |
(2019) in the current issue of the Journal of Neurochemistry, in which the authors describe a microcephalic boy carrying the novel heterozygous de novo missense mutation c.560A> G; p.Asp187Gly in Cdh1/Fzr1 encoding the APC/C E3-ubiquitin ligase cofactor CDH1.
|
31441503 |
2019 |
rs1018001612
|
|
Microcephaly
|
|
0.020 |
GeneticVariation
|
BEFREE |
These results indicate that the loss of function of APC/C-Cdh1 caused by Cdh1 Asp187Gly mutation is a new cause of prenatal microcephaly, psychomotor retardation, and severe epilepsy.
|
31318984 |
2019 |
rs137853054
|
|
Young onset Parkinson disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
We found 2 sEOAD individuals harboring a known causative variant in PARK2 known to cause early-onset Parkinson's disease; p.T240M (n = 1) and p.Q34fs delAG (n = 1).
|
27776828 |
2017 |
rs137853054
|
|
Young onset Parkinson disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
Compound heterozygous mutations (T240M and EX 5_6 del) in the PRKN gene were found to cause autosomal recessive EOPD in 4 members of a large white family.
|
16476817 |
2006 |
rs137853058
|
|
Progressive supranuclear palsy
|
|
0.020 |
GeneticVariation
|
BEFREE |
Steele-Richardson-Olszewski syndrome in a patient with a single C212Y mutation in the parkin protein.
|
12465088 |
2002 |
rs137853058
|
|
Progressive supranuclear palsy
|
|
0.020 |
GeneticVariation
|
BEFREE |
Progressive supranuclear palsy and tau hyperphosphorylation in a patient with a C212Y parkin mutation.
|
12446971 |
2002 |
rs1438259227
|
|
Parkinson Disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
The A53T mutation in the SNCA gene, although uncommon, does represent a cause of PD in the Greek population, especially of familial EOPD with autosomal dominant inheritance.
|
24313877 |
2014 |
rs1438259227
|
|
Parkinson Disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
A missense mutation of SNCA (A53T) was found in a familial PD with autosomal dominant inheritance.
|
18704525 |
2008 |
rs1801334
|
|
Parkinson Disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
To study the role of PARKIN polymorphisms as risk factors for PD in a genetically homogeneous northeastern Mexican population, four previously described coding polymorphisms (Ser167Asn, Val380Leu, Arg366Trp, and Asp394Asn) were analyzed by using the PCR-RFLP technique.
|
19909784 |
2010 |
rs1801334
|
|
Parkinson Disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
In order to analyse the association of PD with these and two previously described polymorphisms (1281 G/A, Asp394Asn, and 601 G/A, Ser167Asn) we genotyped 105 patients and 150 healthy controls.
|
12165399 |
2002 |