Abnormality of the carpal bones
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Bilateral breast hypoplasia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Brain Neoplasms
|
0.010 |
AlteredExpression
|
group |
BEFREE |
A novel ninein-interaction protein, CGI-99, blocks ninein phosphorylation by GSK3beta and is highly expressed in brain tumors.
|
15147888 |
2004 |
Breast Carcinoma
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
A two SNP combination of rs10145182 in NIN and rs2134808 in the TUBG1 locus (P-interaction = 0.00001), suggested SNPs in mediators of microtubule nucleation from the centrosome contribute to breast cancer.
|
20508983 |
2011 |
Breast Carcinoma
|
0.110 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association study of germline variants and breast cancer-specific mortality.
|
30787463 |
2019 |
Carcinogenesis
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Taken together, we have isolated a novel protein CGI-99, which may be involved in the functional regulation of human ninein in the centrosome structure and may also be important in brain development and tumorigenesis.
|
15147888 |
2004 |
Carcinoma
|
0.010 |
Biomarker
|
group |
BEFREE |
NIN/RPN Binding protein 1 homologue (NOBp1), encoded by NOB1 gene, was reported to play an essential role in the oncogenesis and prognosis of carcinomas.
|
24133592 |
2013 |
Central hypothyroidism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Choroid Plexus Papilloma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Five transcription factors (TFs) belonging to three distinct TF families: one TCP (OsPCF2), one CPP (OsCPP5) and three NIN-like (OsNIN-like2, OsNIN-like3 and OsNIN-like4) were identified as binding to OsNHX1 promoter.
|
27766460 |
2017 |
Chronic myeloproliferative disorder
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
NIN, a gene encoding a CEP110-like centrosomal protein, is fused to PDGFRB in a patient with a t(5;14)(q33;q24) and an imatinib-responsive myeloproliferative disorder.
|
15087377 |
2004 |
Chronic myeloproliferative disorder
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
We identified a novel clinical subtype of MPD in two sisters who have rare variants in NIN.
|
22933543 |
2012 |
Chronic Periodontitis
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
We detected no genome-wide significant association signals for CP; however, we found suggestive evidence of association (P < 5 × 10(-6)) for six loci, including NIN, NPY, WNT5A for severe CP and NCR2, EMR1, 10p15 for moderate CP.
|
23459936 |
2013 |
Chronic Periodontitis
|
0.030 |
Biomarker
|
disease |
BEFREE |
In summary, our findings provide direct evidence for the association of NIN and SIGLEC5 with CP susceptibility.
|
30765789 |
2019 |
Chronic Periodontitis
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
Six genes showed evidence of statistically significant association: 4 with severe CP (NIN, p = 1.6 × 10(-7); ABHD12B, p = 3.6 × 10(-7); WHAMM, p = 1.7 × 10(-6); AP3B2, p = 2.2 × 10(-6)) and 2 with high periodontal pathogen colonization (red complex-KCNK1, p = 3.4 × 10(-7); Porphyromonas gingivalis-DAB2IP, p = 1.0 × 10(-6)).
|
25056994 |
2014 |
Clinodactyly
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Clinodactyly of fingers
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Clinodactyly of the 5th finger
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Congenital small ears
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Delayed bone age
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Diastolic blood pressure
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.
|
30578418 |
2019 |
Dwarfism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Fetal Growth Retardation
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Global developmental delay
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Hepatocarcinogenesis
|
0.010 |
Biomarker
|
disease |
BEFREE |
Nodule-in-nodule-type hepatocellular carcinoma (NIN-HCC) is a useful model to illustrate the multi-step nature of hepatocarcinogenesis.
|
16462536 |
2006 |
Hip Dysplasia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|