|
| Entrez Id: |
80331 |
| Gene Symbol: |
DNAJC5 |
DNAJC5
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease.
|
22978711 |
2013 |
|
| Entrez Id: |
80331 |
| Gene Symbol: |
DNAJC5 |
DNAJC5
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease.
|
22978711 |
2013 |
|
| Entrez Id: |
80331 |
| Gene Symbol: |
DNAJC5 |
DNAJC5
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families.
|
22235333 |
2012 |
|
| Entrez Id: |
80331 |
| Gene Symbol: |
DNAJC5 |
DNAJC5
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families.
|
22235333 |
2012 |
|
| Entrez Id: |
80331 |
| Gene Symbol: |
DNAJC5 |
DNAJC5
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families.
|
22235333 |
2012 |
|
| Entrez Id: |
80331 |
| Gene Symbol: |
DNAJC5 |
DNAJC5
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Palmitoylation-induced aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis.
|
22902780 |
2012 |
|
| Entrez Id: |
80331 |
| Gene Symbol: |
DNAJC5 |
DNAJC5
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.
|
21820099 |
2011 |
|
| Entrez Id: |
80331 |
| Gene Symbol: |
DNAJC5 |
DNAJC5
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis.
|
22073189 |
2011 |
|
| Entrez Id: |
80331 |
| Gene Symbol: |
DNAJC5 |
DNAJC5
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.
|
21820099 |
2011 |
|
| Entrez Id: |
80331 |
| Gene Symbol: |
DNAJC5 |
DNAJC5
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis.
|
22073189 |
2011 |
|
| Entrez Id: |
80331 |
| Gene Symbol: |
DNAJC5 |
DNAJC5
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.
|
21820099 |
2011 |
|
| Entrez Id: |
80331 |
| Gene Symbol: |
DNAJC5 |
DNAJC5
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
54982 |
| Gene Symbol: |
CLN6 |
CLN6
|
0.300 |
Biomarker
|
disease |
CTD_human |
Altered biometal homeostasis is associated with CLN6 mRNA loss in mouse neuronal ceroid lipofuscinosis.
|
23789114 |
2013 |
|
| Entrez Id: |
23400 |
| Gene Symbol: |
ATP13A2 |
ATP13A2
|
0.300 |
Biomarker
|
disease |
CTD_human |
Characterization of cellular protective effects of ATP13A2/PARK9 expression and alterations resulting from pathogenic mutants.
|
22847264 |
2012 |
|
| Entrez Id: |
23400 |
| Gene Symbol: |
ATP13A2 |
ATP13A2
|
0.300 |
Biomarker
|
disease |
CTD_human |
A one base pair deletion in the canine ATP13A2 gene causes exon skipping and late-onset neuronal ceroid lipofuscinosis in the Tibetan terrier.
|
22022275 |
2011 |
|
| Entrez Id: |
1200 |
| Gene Symbol: |
TPP1 |
TPP1
|
0.300 |
Biomarker
|
disease |
CTD_human |
Aminoglycoside-mediated suppression of nonsense mutations in late infantile neuronal ceroid lipofuscinosis.
|
11589009 |
2001 |
|
| Entrez Id: |
1200 |
| Gene Symbol: |
TPP1 |
TPP1
|
0.300 |
Biomarker
|
disease |
CTD_human |
Increased brain lysosomal pepstatin-insensitive proteinase activity in patients with neurodegenerative diseases.
|
10320038 |
1999 |
|
| Entrez Id: |
1201 |
| Gene Symbol: |
CLN3 |
CLN3
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|