Disease table of ANEMIA, CONGENITAL DYSERYTHROPOIETIC OMIM ID: PS224120
Gene-disease associations table
| Gene | Associated with ANEMIA, CONGENITAL DYSERYTHROPOIETIC in | Link to HGNC | Cytogenetic band | Number of associated diseases | Associated diseases |
|---|
| CDAN1 | ClinVar, OMIM, HUMSAVAR | HGNC link | 15q15.2 | 1 | PS224120 |
| SEC23B | ClinVar, OMIM, HUMSAVAR | HGNC link | 20p11.23 | 2 | PS224120, PS158350 |
| C15orf41 | ClinVar, OMIM, HUMSAVAR | HGNC link | 15q14 | 1 | PS224120 |
| KLF1 | ClinVar, OMIM, HUMSAVAR | HGNC link | 19p13.13 | 3 | 111150, PS224120, 613566 |
Download the disease annotation in CSV format
Relations among genes:
Tandem repeat annotations from DGD
Cytogenetic band analysis
By region
| Shared region | Number of genes associated with the disease | Genes associated with the disease |
|---|
| 15q1 | 2 | C15orf41, CDAN1 |
By arm
| Shared arm | Number of genes associated with the disease | Genes associated with the disease |
|---|
| 15q | 2 | C15orf41, CDAN1 |
By chromosome
| Shared chromosome | Number of genes associated with the disease | Genes associated with the disease |
|---|
| 15 | 2 | C15orf41, CDAN1 |
Transcription Factors (TF) annotation from TRRUST
| TF | associated to this disease | # regulated genes | Regulated genes | # regulated genes associated with this disease | Regulated genes associated with this disease |
|---|
| KLF1 | YES | 2 | HBB, IL12B | 0 | |
| regulated gene | associated to this disease | # TFs | TFs | # TFs associated with this disease | TFs associated with this disease |
|---|
| CDAN1 | YES | 1 | E2F1 | 0 | |
| KLF1 | YES | 1 | GATA1 | 0 | |
Interactions from BIOGRID - physical
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
Interactions from BIOGRID - genetic
Interactions from STRING
| Gene1 | Gene2 | Direct Interaction | Interaction mode | Number of shared interactors | Shared genes in interaction |
|---|
| SEC23B | KLF1 | No | - | 1 | UBC |
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
KEGG pathways annotation: shared terms / NET-GE enrichment (no shared terms)
REACTOME pathways annotation: shared terms / NET-GE enrichment (no shared terms)
GO - molecular function annotation: shared terms (no NET-GE enrichment)
Shared terms
GO - biological process annotation: shared terms (no NET-GE enrichment)
Shared terms
| GO | IC | Number of genes with the same GO | Genes |
|---|
| protein localization (GO:0008104) | 2.36 | 2 | SEC23B, CDAN1 |
| regulation of primary metabolic process (GO:0080090) | 1.08 | 2 | KLF1, CDAN1 |
| regulation of metabolic process (GO:0019222) | 1.02 | 2 | KLF1, CDAN1 |
| regulation of macromolecule metabolic process (GO:0060255) | 1.08 | 2 | KLF1, CDAN1 |
| regulation of cellular biosynthetic process (GO:0031326) | 1.38 | 2 | KLF1, CDAN1 |
| regulation of cellular metabolic process (GO:0031323) | 1.07 | 2 | KLF1, CDAN1 |
| cellular process (GO:0009987) | 0.26 | 2 | KLF1, CDAN1 |
| regulation of biosynthetic process (GO:0009889) | 1.37 | 2 | KLF1, CDAN1 |
| regulation of cellular process (GO:0050794) | 0.5 | 2 | KLF1, CDAN1 |
| regulation of nucleobase-containing compound metabolic process (GO:0019219) | 1.43 | 2 | KLF1, CDAN1 |
| regulation of macromolecule biosynthetic process (GO:0010556) | 1.43 | 2 | KLF1, CDAN1 |
| biological regulation (GO:0065007) | 0.39 | 2 | KLF1, CDAN1 |
| regulation of nitrogen compound metabolic process (GO:0051171) | 1.36 | 2 | KLF1, CDAN1 |
| regulation of cellular macromolecule biosynthetic process (GO:2000112) | 1.46 | 2 | KLF1, CDAN1 |
| localization (GO:0051179) | 1.4 | 2 | SEC23B, CDAN1 |
| macromolecule localization (GO:0033036) | 2.34 | 2 | SEC23B, CDAN1 |
| regulation of biological process (GO:0050789) | 0.45 | 2 | KLF1, CDAN1 |
GO - cellular component annotation: shared terms / NET-GE enrichment
Shared terms
| GO | IC | Number of genes with the same GO | Genes |
|---|
| intracellular membrane-bounded organelle (GO:0043231) | 0.6 | 3 | KLF1, SEC23B, CDAN1 |
| cell part (GO:0044464) | 0.11 | 3 | SEC23B, KLF1, CDAN1 |
| intracellular organelle (GO:0043229) | 0.51 | 3 | KLF1, SEC23B, CDAN1 |
| intracellular part (GO:0044424) | 0.28 | 3 | SEC23B, KLF1, CDAN1 |
| membrane-bounded organelle (GO:0043227) | 0.47 | 3 | KLF1, SEC23B, CDAN1 |
| organelle (GO:0043226) | 0.4 | 3 | KLF1, SEC23B, CDAN1 |
| macromolecular complex (GO:0032991) | 1.35 | 2 | KLF1, SEC23B |
| nucleus (GO:0005634) | 1.07 | 2 | KLF1, CDAN1 |
| membrane (GO:0016020) | 0.68 | 2 | SEC23B, CDAN1 |
| intracellular organelle part (GO:0044446) | 0.81 | 2 | SEC23B, KLF1 |
| endomembrane system (GO:0012505) | 4.84 | 2 | SEC23B, CDAN1 |
| membrane part (GO:0044425) | 0.95 | 2 | SEC23B, CDAN1 |
| organelle part (GO:0044422) | 0.79 | 2 | SEC23B, KLF1 |
NET-GE enrichment