Dwarfism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Dysarthria
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Dyskinetic syndrome
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Severe intellectual disability
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Acquired Camptodactyly
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Cerebral atrophy
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Hypoplasia of thumb
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Global developmental delay
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Congenital Camptodactyly
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Overriding toe
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Clinodactyly of the 5th finger
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Cerebral Palsy
|
0.010 |
Biomarker
|
disease |
BEFREE |
Ten de novo mutations in three previously identified disease genes (TUBA1A (n=2), SCN8A (n=1) and KDM5C (n=1)) and in six novel candidate CP genes (AGAP1, JHDM1D, MAST1, NAA35, RFX2 and WIPI2) were predicted to be potentially pathogenic for CP.
|
25666757 |
2015 |
Leukemia, Myelocytic, Acute
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
In contrast, the expression of WIPI-2 was only reduced in acute promyelocytic leukemia (APL), a distinct subtype of AML (t(15,17)).
|
24991767 |
2014 |
Acute Promyelocytic Leukemia
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
As AML cells are blocked in their differentiation, we tested if the expression levels of WIPI-1 and WIPI-2 increase during all-trans retinoic acid (ATRA)-induced neutrophil differentiation of APL.
|
24991767 |
2014 |
Cardiac Arrhythmia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Bone Density
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Nuclear receptor and VEGF pathways for gene-blood lead interactions, on bone mineral density, in Korean smokers.
|
29518117 |
2018 |
Red Blood Cell Count measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
Kyphosis deformity of spine
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Smoking
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Nuclear receptor and VEGF pathways for gene-blood lead interactions, on bone mineral density, in Korean smokers.
|
29518117 |
2018 |
Reticulocyte count (procedure)
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
Short stature
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Delayed speech and language development
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Mean Corpuscular Volume (result)
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
Finding of Mean Corpuscular Hemoglobin
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
Finding of Mean Corpuscular Hemoglobin
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |