EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
   2.7.1.14 | Cystinosis |
10673275 |
The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion. |
causal interaction
unassigned |
2
0 |
| 2.7.1.14 | Cystinosis |
11505338 |
The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region. |
ongoing research
unassigned |
2
0 |
| 2.7.1.14 | Cystinosis |
18186520 |
Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene. |
causal interaction
unassigned |
3
0 |
| 2.7.1.14 | sedoheptulokinase deficiency |
18186520 |
Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene. |
causal interaction
unassigned |
3
0 |
| 2.7.1.14 | sedoheptulokinase deficiency |
18775706 |
Characterization of mammalian sedoheptulokinase and mechanism of formation of erythritol in sedoheptulokinase deficiency. |
causal interaction
diagnostic usage
unassigned |
2
2
0 |
| 2.7.1.14 | sedoheptulokinase deficiency |
25647543 |
First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder? |
therapeutic application
unassigned |
1
0 |
| 2.7.1.14 | Starvation |
15820655 |
Effects of phosphate limitation on expression of genes involved in pyrimidine synthesis and salvaging in Arabidopsis. |
causal interaction
unassigned |
1
0 |
