rs775488556
|
TAT;TAT-AS1
|
Tyrosine Transaminase Deficiency Disease
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia type II.
|
9544843 |
1998 |
rs575372249
|
TAT;TAT-AS1
|
Neoplasms
|
|
0.010 |
GeneticVariation |
BEFREE |
Other three mutations were detected in three of five multiple tumors developed in the bilateral WT patient; a mutation of Delta45 in one of two tumors in the right kidney, and Ser45Cys (TCT --> TGT) and Ser45Pro (TCT --> CCT) in two of three tumors in the left kidney.
|
12239584 |
2002 |
rs118203916
|
TAT;TAT-AS1
|
Tyrosine Transaminase Deficiency Disease
|
A |
0.700 |
CausalMutation |
CLINVAR |
Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II.
|
1357662 |
1992 |
rs757389308
|
TAT;TAT-AS1
|
Amyotrophic Lateral Sclerosis
|
|
0.010 |
GeneticVariation |
BEFREE |
Recently, we reported that a subpopulation of spinal cord astrocytes degenerates in the microenvironment of motor neurons in the hSOD1(G93A) mouse model of ALS.
|
22072391 |
2012 |
rs761817519
|
TAT;TAT-AS1
|
Tyrosine Transaminase Deficiency Disease
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Richner-Hanhart syndrome detected by expanded newborn screening.
|
18577048 |
2008 |
rs118203916
|
TAT;TAT-AS1
|
Tyrosine Transaminase Deficiency Disease
|
A |
0.700 |
CausalMutation |
CLINVAR |
TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping.
|
16917729 |
2006 |
rs1325757098
|
TAT;TAT-AS1
|
Acute leukemia
|
|
0.010 |
GeneticVariation |
BEFREE |
The BDNF Val66Met polymorphism may contribute to development of depressive symptomatology in patients undergoing stressful life events, such as diagnosis of acute leukemia and preparation for HSCT.
|
22652301 |
2013 |
rs1325757098
|
TAT;TAT-AS1
|
psychological distress
|
|
0.010 |
GeneticVariation |
BEFREE |
There was evidence of a potential association between BDNF (Val66Met) and psychological distress.
|
22652301 |
2013 |
rs1325757098
|
TAT;TAT-AS1
|
Depression in children
|
|
0.010 |
GeneticVariation |
BEFREE |
Two recent papers associated candidate genes with brooding rumination, a possible cognitive endophenotype for depression, in children ages 8-14 years.Stone et al. reported that BDNF val66met polymorphism predicted brooding in adolescence.Woody et al. reported that children carrying at least one copy of a CRHR1 TAT haplotype reported less brooding than their peers in the presence of maternal depression.
|
27073970 |
2017 |
rs1325757098
|
TAT;TAT-AS1
|
Depressive disorder
|
|
0.010 |
GeneticVariation |
BEFREE |
Two recent papers associated candidate genes with brooding rumination, a possible cognitive endophenotype for depression, in children ages 8-14 years.Stone et al. reported that BDNF val66met polymorphism predicted brooding in adolescence.Woody et al. reported that children carrying at least one copy of a CRHR1 TAT haplotype reported less brooding than their peers in the presence of maternal depression.
|
27073970 |
2017 |
rs1325757098
|
TAT;TAT-AS1
|
Depressed mood
|
|
0.010 |
GeneticVariation |
BEFREE |
Two recent papers associated candidate genes with brooding rumination, a possible cognitive endophenotype for depression, in children ages 8-14 years.Stone et al. reported that BDNF val66met polymorphism predicted brooding in adolescence.Woody et al. reported that children carrying at least one copy of a CRHR1 TAT haplotype reported less brooding than their peers in the presence of maternal depression.
|
27073970 |
2017 |
rs1325757098
|
TAT;TAT-AS1
|
Mental Depression
|
|
0.010 |
GeneticVariation |
BEFREE |
Two recent papers associated candidate genes with brooding rumination, a possible cognitive endophenotype for depression, in children ages 8-14 years.Stone et al. reported that BDNF val66met polymorphism predicted brooding in adolescence.Woody et al. reported that children carrying at least one copy of a CRHR1 TAT haplotype reported less brooding than their peers in the presence of maternal depression.
|
27073970 |
2017 |
rs761817519
|
TAT;TAT-AS1
|
Tyrosine Transaminase Deficiency Disease
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.
|
28255985 |
2017 |