CEROID LIPOFUSCINOSIS, NEURONAL, 13
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Pseudo-dominant inheritance of a novel CTSF mutation associated with type B Kufs disease.
|
25274848 |
2014 |
CEROID LIPOFUSCINOSIS, NEURONAL, 13
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.
|
23297359 |
2013 |
CEROID LIPOFUSCINOSIS, NEURONAL, 13
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
De novo mutations in the genome organizer CTCF cause intellectual disability.
|
23746550 |
2013 |
CEROID LIPOFUSCINOSIS, NEURONAL, 13
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.
|
23297359 |
2013 |
CEROID LIPOFUSCINOSIS, NEURONAL, 13
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Murine cathepsin F deficiency causes neuronal lipofuscinosis and late-onset neurological disease.
|
16508006 |
2006 |
CEROID LIPOFUSCINOSIS, NEURONAL, 13
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 13
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Dementia
|
0.110 |
Biomarker
|
disease |
BEFREE |
Although CTSF mutations account for a minority of cases of type B Kufs, CTSF screening should be considered in cases with early-onset dementia and may avoid the need for invasive biopsies.
|
23297359 |
2013 |
Dementia
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height.
|
21194676 |
2011 |
Bipolar Disorder
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.
|
19416921 |
2009 |
Bipolar Disorder
|
0.100 |
GeneticVariation
|
disease |
GWASDB |
Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.
|
19416921 |
2009 |
Ataxia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Depressive disorder
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Dysarthria
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Myoclonus
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Babinski Reflex
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Seizures
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Seizures
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Tremor
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Mood swings
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Hyperreflexia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Extrapyramidal sign
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Primitive reflex
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Diffuse cerebral atrophy
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|