×
Entrez Id:
9487
Gene Symbol:
PIGL
PIGL
Zunich neuroectodermal syndrome
0.730
CausalMutation
CLINVAR
Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome .
22444671
2012
×
Entrez Id:
5818
Gene Symbol:
NECTIN1
NECTIN1
Zlotogora-Ogur syndrome
0.730
CausalMutation
CLINVAR
×
Entrez Id:
7780
Gene Symbol:
SLC30A2
SLC30A2
Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc
0.650
CausalMutation
CLINVAR
ATP6V1B2
ZIMMERMANN-LABAND SYNDROME 2
0.410
CausalMutation
CLINVAR
ATP6V1B2
ZIMMERMANN-LABAND SYNDROME 2
0.410
GeneticVariation
CLINVAR
×
Entrez Id:
3756
Gene Symbol:
KCNH1
KCNH1
ZIMMERMANN-LABAND SYNDROME 1
0.400
CausalMutation
CLINVAR
ATP6V1B2
ZIMMERMANN-LABAND SYNDROME 1
0.100
CausalMutation
CLINVAR
×
Entrez Id:
6651
Gene Symbol:
SON
SON
Zhu-Tokita-Takenouchi-Kim syndrome
0.710
GeneticVariation
CLINVAR
×
Entrez Id:
6651
Gene Symbol:
SON
SON
Zhu-Tokita-Takenouchi-Kim syndrome
0.710
CausalMutation
CLINVAR
×
Entrez Id:
7535
Gene Symbol:
ZAP70
ZAP70
ZAP70 deficiency
0.730
CausalMutation
CLINVAR
×
Entrez Id:
9896
Gene Symbol:
FIG4
FIG4
Yunis Varon syndrome
0.980
CausalMutation
CLINVAR
×
Entrez Id:
23522
Gene Symbol:
KAT6B
KAT6B
Young Simpson syndrome
0.790
CausalMutation
CLINVAR
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
26938784
2016
×
Entrez Id:
23522
Gene Symbol:
KAT6B
KAT6B
Young Simpson syndrome
0.790
GeneticVariation
CLINVAR
×
Entrez Id:
23522
Gene Symbol:
KAT6B
KAT6B
Young Simpson syndrome
0.790
CausalMutation
CLINVAR
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.
22077973
2011
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
Young onset Parkinson disease
0.200
CausalMutation
CLINVAR
Structural and Functional Impact of Parkinson Disease-Associated Mutations in the E3 Ubiquitin Ligase Parkin.
25939424
2015
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
Young onset Parkinson disease
0.200
CausalMutation
CLINVAR
Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin.
16049031
2005
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
Young onset Parkinson disease
0.200
CausalMutation
CLINVAR
Exome sequencing in dementia with Lewy bodies.
26836416
2016
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
Young onset Parkinson disease
0.200
CausalMutation
CLINVAR
Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease.
19801972
2009
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
Young onset Parkinson disease
0.200
CausalMutation
CLINVAR
Genomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD.
27182553
2016
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
Young onset Parkinson disease
0.200
CausalMutation
CLINVAR
Lewy body pathology and typical Parkinson disease in a patient with a heterozygous (R275W) mutation in the Parkin gene (PARK2).
22555654
2012
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
Young onset Parkinson disease
0.200
CausalMutation
CLINVAR
Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts.
25815004
2015
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
Young onset Parkinson disease
0.200
CausalMutation
CLINVAR
Distribution, type, and origin of Parkin mutations: review and case studies.
15390068
2004
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
Young onset Parkinson disease
0.200
CausalMutation
CLINVAR
RING finger 1 mutations in Parkin produce altered localization of the protein.
14519684
2003
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
Young onset Parkinson disease
0.200
CausalMutation
CLINVAR
A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease.
10072423
1999
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
Young onset Parkinson disease
0.200
CausalMutation
CLINVAR
How much phenotypic variation can be attributed to parkin genotype?
12891670
2003