CONE-ROD DYSTROPHY 19
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.
|
28173158 |
2016 |
CONE-ROD DYSTROPHY 19
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.
|
24791901 |
2014 |
CONE-ROD DYSTROPHY 19
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
CONE-ROD DYSTROPHY 19
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
CONE-ROD DYSTROPHY 19
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Cone-Rod Dystrophy 2
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.
|
24791901 |
2014 |
Juvenile-Onset Still Disease
|
0.300 |
Biomarker
|
disease |
CTD_human |
Gene expression signatures in polyarticular juvenile idiopathic arthritis demonstrate disease heterogeneity and offer a molecular classification of disease subsets.
|
19565504 |
2009 |
Juvenile arthritis
|
0.300 |
Biomarker
|
disease |
CTD_human |
Gene expression signatures in polyarticular juvenile idiopathic arthritis demonstrate disease heterogeneity and offer a molecular classification of disease subsets.
|
19565504 |
2009 |
Juvenile psoriatic arthritis
|
0.300 |
Biomarker
|
disease |
CTD_human |
Gene expression signatures in polyarticular juvenile idiopathic arthritis demonstrate disease heterogeneity and offer a molecular classification of disease subsets.
|
19565504 |
2009 |
Polyarthritis, Juvenile, Rheumatoid Factor Negative
|
0.300 |
Biomarker
|
disease |
CTD_human |
Gene expression signatures in polyarticular juvenile idiopathic arthritis demonstrate disease heterogeneity and offer a molecular classification of disease subsets.
|
19565504 |
2009 |
Polyarthritis, Juvenile, Rheumatoid Factor Positive
|
0.300 |
Biomarker
|
disease |
CTD_human |
Gene expression signatures in polyarticular juvenile idiopathic arthritis demonstrate disease heterogeneity and offer a molecular classification of disease subsets.
|
19565504 |
2009 |
Cone-Rod Dystrophies
|
0.110 |
AlteredExpression
|
disease |
BEFREE |
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.
|
28173158 |
2016 |
Retinal Dystrophies
|
0.110 |
GeneticVariation
|
group |
BEFREE |
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.
|
24791901 |
2014 |
Retinal Dystrophies
|
0.110 |
Biomarker
|
group |
HPO |
|
|
|
Cone-Rod Dystrophies
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
Carpal Tunnel Syndrome
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
A genome-wide association analysis identifies 16 novel susceptibility loci for carpal tunnel syndrome.
|
30833571 |
2019 |
Leukemia, Myelocytic, Acute
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
|
27903959 |
2017 |
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.
|
21998595 |
2011 |
Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.
|
21998595 |
2011 |
Color vision defect
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Nyctalopia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Retinitis Pigmentosa
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Photophobia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Encephaloclastic Proliferative Vasculopathy
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Abnormality of retinal pigmentation
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|