Entrez Id: |
1203 |
Gene Symbol: |
CLN5 |
CLN5
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.
|
9662406 |
1998 |
Entrez Id: |
1203 |
Gene Symbol: |
CLN5 |
CLN5
|
0.970 |
CausalMutation
|
disease |
CLINVAR |
CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.
|
9662406 |
1998 |
Entrez Id: |
1203 |
Gene Symbol: |
CLN5 |
CLN5
|
0.970 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.
|
9662406 |
1998 |
Entrez Id: |
26224 |
Gene Symbol: |
FBXL3 |
FBXL3
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.
|
9662406 |
1998 |
Entrez Id: |
1203 |
Gene Symbol: |
CLN5 |
CLN5
|
0.970 |
GeneticVariation
|
disease |
CLINVAR |
CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL.
|
20157158 |
2010 |
Entrez Id: |
26224 |
Gene Symbol: |
FBXL3 |
FBXL3
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL.
|
20157158 |
2010 |
Entrez Id: |
1203 |
Gene Symbol: |
CLN5 |
CLN5
|
0.970 |
CausalMutation
|
disease |
CLINVAR |
CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches.
|
23160995 |
2012 |
Entrez Id: |
26224 |
Gene Symbol: |
FBXL3 |
FBXL3
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches.
|
23160995 |
2012 |
Entrez Id: |
1203 |
Gene Symbol: |
CLN5 |
CLN5
|
0.970 |
GeneticVariation
|
disease |
CLINVAR |
An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation.
|
22727047 |
2012 |
Entrez Id: |
26224 |
Gene Symbol: |
FBXL3 |
FBXL3
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation.
|
22727047 |
2012 |
Entrez Id: |
1203 |
Gene Symbol: |
CLN5 |
CLN5
|
0.970 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Entrez Id: |
1203 |
Gene Symbol: |
CLN5 |
CLN5
|
0.970 |
Biomarker
|
disease |
MGD |
A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging.
|
15459177 |
2004 |
Entrez Id: |
1203 |
Gene Symbol: |
CLN5 |
CLN5
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset.
|
15728307 |
2005 |
Entrez Id: |
1203 |
Gene Symbol: |
CLN5 |
CLN5
|
0.970 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Entrez Id: |
1203 |
Gene Symbol: |
CLN5 |
CLN5
|
0.970 |
Biomarker
|
disease |
CTD_human |
|
|
|