Detailed information for CERKL
Basic information
| Official symbol | CFH |
|---|---|
| Official full name | complement factor H |
| Location | 1q32 |
| Gene type | protein-coding |
| Synonyms | AHUS1|AMBP1|ARMD4|ARMS1|CFHL3|FH|FHL1|HF|HF1|HF2|HUS |
| Quick links | Entrez ID:3075; HGNC:4883; MIM:134370; Ensembl:ENSG00000000971; HPRD:00601; Vega:OTTHUMG00000035607 |
GO related
| GO term accession | GO term name | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-Value |
|---|---|---|---|---|---|---|---|
| GO:0044699 | single-organism process | 7682 | 152 | 95.57 | 1.59 | 9.26e-19 | 3.88e-17 |
Pathway related
| Term | Surce | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-value |
|---|
PPI related
| ID | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-value |
|---|
OMIM related
| chromosome | begin | end | disorder MIM number | disorder | phene mapping key | gene/locus MIM number | cytogenetic loaction |
|---|---|---|---|---|---|---|---|
| chr1 | 196620007 | 196671695 | 126700 | Basal laminar drusen | 3 | 134370 | 1q31.3 |
| chr1 | 196620007 | 196671695 | 609814 | Complement factor H deficiency | 3 | 134370 | 1q31.3 |
| chr1 | 196620007 | 196671695 | 235400 | "{Hemolytic uremic syndrome, atypical, susceptibility to, 1}" | 3 | 134370 | 1q31.3 |
| chr1 | 196620007 | 196671695 | 610698 | "{Macular degeneration, age-related, 4}" | 3 | 134370 | 1q31.3 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chr1 | 196620007 | 196671695 | 3075 | Cfh | MGI:88385 | MP:0002873 | normal phenotype |
| chr1 | 196620007 | 196671695 | 3075 | Cfh | MGI:88385 | MP:0005367 | renal/urinary system phenotype |
| chr1 | 196620007 | 196671695 | 3075 | Cfh | MGI:88385 | MP:0005376 | homeostasis/metabolism phenotype |
| chr1 | 196620007 | 196671695 | 3075 | Cfh | MGI:88385 | MP:0005385 | cardiovascular system phenotype |
| chr1 | 196620007 | 196671695 | 3075 | Cfh | MGI:88385 | MP:0005387 | immune system phenotype |
| chr1 | 196620007 | 196671695 | 3075 | Cfh | MGI:88385 | MP:0005397 | hematopoietic system phenotype |
| chr1 | 196620007 | 196671695 | 3075 | Cfh | MGI:88385 | MP:0010768 | mortality/aging |
Mutation spectrum
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Gene-disease network
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