| Dataset | MPO Gene-Phenotype Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | Abnormal acid accumulation or depletion of base. (Human Phenotype Ontology, HP_0001941) |
| External Link | http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003030 |
| Similar Terms | |
| Downloads & Tools |
6 gene mutations causing the acidemia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
| Symbol | Name |
|---|---|
| EDN2 | endothelin 2 |
| MUT | methylmalonyl CoA mutase |
| RYR1 | ryanodine receptor 1 (skeletal) |
| SLC26A7 | solute carrier family 26 (anion exchanger), member 7 |
| SLC4A1 | solute carrier family 4 (anion exchanger), member 1 (Diego blood group) |
| SLC4A4 | solute carrier family 4 (sodium bicarbonate cotransporter), member 4 |
