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Fanconi anemia complementation group A
Summary
- Synonym
-
- FANCA
- Definition
- A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCA gene on chromosome 16q24.
- Super Class
- Fanconi anemia autosomal recessive disease
External Links
- Disease Ontology
- DOID:0111095
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 142 | PARP1 | poly(ADP-ribose) polymerase 1 | |
| 217 | ALDH2 | aldehyde dehydrogenase 2 family member | |
| 310 | ANXA7 | annexin A7 | |
| 847 | CAT | catalase | |
| 945 | CD33 | CD33 molecule | |
| 960 | CD44 | CD44 molecule (IN blood group) | |
| 962 | CD48 | CD48 molecule | |
| 1555 | CYP2B6 | cytochrome P450 family 2 subfamily B member 6 | |
| 2523 | FUT1 | fucosyltransferase 1 (H blood group) | |
| 3251 | HPRT1 | hypoxanthine phosphoribosyltransferase 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60760 | Hematopoietic prostaglandin D synthase | |
| P00492 | Hypoxanthine-guanine phosphoribosyltransferase | |
| P04040 | Catalase | |
| P05091 | Aldehyde dehydrogenase, mitochondrial | |
| P05362 | Intercellular adhesion molecule 1 | |
| P06858 | Lipoprotein lipase | |
| P09326 | CD48 antigen | |
| P09874 | Poly [ADP-ribose] polymerase 1 | |
| P13591 | Neural cell adhesion molecule 1 | |
| P16070 | CD44 antigen |
