Metazoan complexes |
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Emili & Marcotte labs |
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Details of CFI gene in Homo sapiens
IDs | |||||||||
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Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| CFI | IF | P05156 | CFAI_HUMAN | 3426 | ENSG00000205403 | Complement factor I Complement factor I heavy chain Complement factor I light chain | SPROT |
Disease | |||||||||
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Disease | OMIM id | ||||||||
Hemolytic uremic syndrome atypical 3 (AHUS3) [MIM:612923]: An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Other genes may play a role in modifying the phenotype. | 612923 | Complement factor I deficiency (CFI deficiency) [MIM:610984]: Autosomal recessive condition associated with a propensity to pyogenic infections. Note=The disease is caused by mutations affecting the gene represented in this entry. | 610984 |
Orthologs in other species | |||||||||
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M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Cfi | --- | --- | --- |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
---|---|---|---|---|---|---|---|---|---|
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
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