SACRAL AGENESIS WITH VERTEBRAL ANOMALIES
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal.
|
24253444 |
2014 |
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
|
0.400 |
GeneticVariation
|
disease |
UNIPROT |
The human T locus and spina bifida risk.
|
15449172 |
2004 |
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
|
0.400 |
GeneticVariation
|
disease |
UNIPROT |
Autozygome and high throughput confirmation of disease genes candidacy.
|
30237576 |
2019 |
Substance abuse problem
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Low-income minority women are disproportionately represented among those living with HIV in the U.S and also at-risk for substance abuse and intimate partner violence-collectively called the SAVA syndemic-which may impede HIV testing uptake.
|
29068716 |
2017 |
Substance abuse problem
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
They are also at risk for the SAVA (substance abuse, violence, and HIV/AIDS) syndemic issues.
|
29651922 |
2018 |
Muscular Dystrophies, Limb-Girdle
|
0.010 |
GeneticVariation
|
group |
BEFREE |
The peptides include the scaffolding domain, the aromatic and positively charged residues at the C-terminal end of this domain as well as deletion of three amino acids TFT, observed in certain patients with limb girdle muscular dystrophy.
|
16948121 |
2006 |
SACRAL AGENESIS WITH VERTEBRAL ANOMALIES
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal.
|
24253444 |
2014 |
Chordoma
|
0.620 |
Biomarker
|
disease |
CTD_human |
A common single-nucleotide variant in T is strongly associated with chordoma.
|
23064415 |
2012 |
Chordoma
|
0.620 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
T (brachyury) gene duplication confers major susceptibility to familial chordoma.
|
19801981 |
2009 |
Chordoma
|
0.620 |
Biomarker
|
disease |
CTD_human |
T (brachyury) gene duplication confers major susceptibility to familial chordoma.
|
19801981 |
2009 |
Chordoma
|
0.620 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A common single-nucleotide variant in T is strongly associated with chordoma.
|
23064415 |
2012 |
Sacral agenesis
|
0.400 |
Biomarker
|
disease |
HPO |
|
|
|
Sacral agenesis
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A genetic study of the human T gene and its exclusion as a major candidate gene for sacral agenesis with anorectal atresia.
|
10204846 |
1999 |
Neural Tube Defects
|
0.310 |
Biomarker
|
group |
LHGDN |
Human T and risk for neural tube defects.
|
11897834 |
2002 |
Neural Tube Defects
|
0.310 |
Biomarker
|
group |
CTD_human |
|
|
|
Diastematomyelia
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
Neurenteric Cyst
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
Tethered Cord Syndrome
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
Iniencephaly
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
Craniorachischisis
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
Anorectal atresia
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A genetic study of the human T gene and its exclusion as a major candidate gene for sacral agenesis with anorectal atresia.
|
10204846 |
1999 |
Exencephaly
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
Spinal Cord Myelodysplasia
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
Acrania
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
familial chordoma
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A common single-nucleotide variant in T is strongly associated with chordoma.
|
23064415 |
2012 |