congenital nonspherocytic hemolytic anemia
| UniProt ID | Protein Name | Source |
|---|---|---|
| P06744 | Glucose-6-phosphate isomerase | |
| P11413 | Glucose-6-phosphate 1-dehydrogenase | |
| P19367 | Hexokinase-1 | |
| P30613 | Pyruvate kinase PKLR |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P06745 | Glucose-6-phosphate isomerase |
| HPO ID | HPO Term |
|---|---|
| HP:0001082 | Cholecystitis |
| HP:0010871 | Sensory ataxia |
| HP:0003568 | Decreased glucosephosphate isomerase level |
| HP:0011993 | Impaired neutrophil bactericidal activity |
| HP:0001251 | Ataxia |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001324 | Muscle weakness |
| HP:0005525 | Spontaneous hemolytic crises |
| HP:0001081 | Cholelithiasis |
| HP:0011981 | Pigment gallstones |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: December 8, 2025