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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00905 | Iminoglycinuria | ... Inactivation or reduced function of SLC36A2 (PAT-2) is the predominant determinant of the iminoglycinuria phenotype in humans. Mutations in SLC6A20 (SIT-1) and SLC6A19 (B0AT1) could also be the cause. | Inherited metabolic disorder |
SLC36A2 [HSA:153201] [KO:K14209] SLC6A19 [HSA:340024] [KO:K05334] SLC6A20 [HSA:54716] [KO:K05048] |
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| H01031 |
Orthostatic intolerance Postural tachycardia syndrome |
... transporter (NET) function is considered to contribute to the pathophysiology in some patients with OI. The impaired uptake of NE could be caused by a mutation in the SLC6A2 gene that encodes the NET. | Cardiovascular disease | SLC6A2 [HSA:6530] [KO:K05035] | |
| H01304 | Hyperglycinuria | Hyperglycinuria (HG) is an autosomal recessive abnormality of renal transport of glycine, resulting from mutations in genes encoding proline and glycine transporters. | Urinary system disease |
SLC6A20 [HSA:54716] [KO:K05048] SLC6A19 [HSA:340024] [KO:K05334] SLC36A2 [HSA:153201] [KO:K14209] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |