11 pairs of ribs
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
|
28792876 |
2017 |
2-3 toe syndactyly
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
|
28792876 |
2017 |
Abnormality of the musculature
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Abnormality of the respiratory system
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Adult Glioblastoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
In methylthioadenosine phosphorylase (MTAP)-deficient glioblastoma cells, expression of MTAP transgene did not alter methionine dependency, but compromised tumor growth in vivo We discovered that a lack of the kynurenine-metabolizing enzymes kynurenine monooxygenase and/or kynureninase promotes the accumulation of kynurenine, which triggers immune evasion in glioblastoma cells.
|
26936918 |
2016 |
Aminoaciduria
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Anteriorly placed anus
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
|
28792876 |
2017 |
Aortic Aneurysm, Abdominal
|
0.010 |
Biomarker
|
disease |
BEFREE |
Finally, human AAA samples had stronger staining with the antibodies against 3-HAA, IDO, and kynureninase than those in adjacent nonaneurysmal aortic sections of human AAA samples.
|
28978552 |
2017 |
Blood Protein Measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Co-regulatory networks of human serum proteins link genetics to disease.
|
30072576 |
2018 |
Blood Protein Measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genomic atlas of the human plasma proteome.
|
29875488 |
2018 |
Blood Protein Measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome and epigenome wide studies of neurological protein biomarkers in the Lothian Birth Cohort 1936.
|
31320639 |
2019 |
Breast Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Kynureninase suppresses BC cell proliferation, tumour growth and development.
|
31332944 |
2019 |
Breathing dysregulation
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Childhood Glioblastoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
In methylthioadenosine phosphorylase (MTAP)-deficient glioblastoma cells, expression of MTAP transgene did not alter methionine dependency, but compromised tumor growth in vivo We discovered that a lack of the kynurenine-metabolizing enzymes kynurenine monooxygenase and/or kynureninase promotes the accumulation of kynurenine, which triggers immune evasion in glioblastoma cells.
|
26936918 |
2016 |
Childhood Osteosarcoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Most notably, four genes-COL1A2, KYNU, ACTG2 and NPPB-were differentially expressed in high and non-aggressive cell lines for all the cancer-related phenotypes investigated, suggesting that they might have important roles in the process of osteosarcoma tumorigenesis.
|
24064976 |
2013 |
Chronic Kidney Diseases
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
Comatose
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Congenital clubfoot
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
|
28792876 |
2017 |
Congenital hemivertebra
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Congenital hypoplasia of kidney
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Congenital hypoplasia of kidney
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
|
28792876 |
2017 |
Congenital malformation syndrome
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
|
28792876 |
2017 |
Congenital sensorineural hearing loss
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Cutaneous Melanoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Additionally, an analysis of the correlation network reconstructed using TCGA-SKCM emphasized KMO and KYNU with high variability among BRAF wild-type compared with V600E, which underscored their role in distinct CD4+ T-cell behavior in tumour immunity.
|
31434983 |
2019 |
Defect of vertebral segmentation
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
|
28792876 |
2017 |