EC Number   |
Disease |
PubMed ID |
Title of Publication  |
Category |
Confidence Level |
|---|
   7.6.2.15 | Anemia, Megaloblastic |
10978358 |
A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I. |
causal interaction
unassigned |
4
0 |
| 7.6.2.15 | Deafness |
10978358 |
A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I. |
causal interaction
unassigned |
4
0 |
| 7.6.2.15 | Diabetes Mellitus |
11286512 |
Analysis of slc19a2, on 1q23.3 encoding a thiamine transporter as a candidate gene for type 2 diabetes mellitus in pima indians. |
ongoing research
therapeutic application
unassigned |
1
1
0 |
| 7.6.2.15 | Diabetes Mellitus, Type 2 |
11286512 |
Analysis of slc19a2, on 1q23.3 encoding a thiamine transporter as a candidate gene for type 2 diabetes mellitus in pima indians. |
ongoing research
therapeutic application
unassigned |
1
1
0 |
| 7.6.2.15 | Beriberi |
24607307 |
Analysis of thiamine transporter genes in sporadic beriberi. |
unassigned |
0 |
| 7.6.2.15 | Hypertension |
27379158 |
Association of a SNP in SLC35F3 Gene with the Risk of Hypertension in a Chinese Han Population. |
causal interaction
therapeutic application
unassigned |
3
2
0 |
| 7.6.2.15 | Brain Diseases |
25876998 |
Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing. |
unassigned |
0 |
| 7.6.2.15 | Anemia, Megaloblastic |
10542220 |
Cloning of the human thiamine transporter, a member of the folate transporter family. |
unassigned |
0 |
| 7.6.2.15 | Anemia, Megaloblastic |
10074490 |
Defective high-affinity thiamine transporter leads to cell death in thiamine-responsive megaloblastic anemia syndrome fibroblasts. |
unassigned |
0 |
| 7.6.2.15 | Anemia |
16642288 |
Deletion of SLC19A2, the high affinity thiamine transporter, causes selective inner hair cell loss and an auditory neuropathy phenotype. |
diagnostic usage
unassigned |
1
0 |
