Detailed information for IMPDH1
Official symbol | IMPDH1 |
---|---|
Official full name | IMP (inosine 5'-monophosphate) dehydrogenase 1 |
Location | 7q31.3-q32 |
Gene type | protein-coding |
Synonyms | IMPD|IMPD1|LCA11|RP10|sWSS2608 |
Quick links | Entrez ID:3614; HGNC:6052; MIM:146690; Ensembl:ENSG00000106348; HPRD:08853; Vega:OTTHUMG00000157713 |
GO term accession | GO term name | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-Value |
---|---|---|---|---|---|---|---|
GO:0005488 | binding | 11955 | 150 | 132.97 | 1.13 | 0.0005 | 0.0090 |
Term | Surce | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-value |
---|---|---|---|---|---|---|---|
Purine metabolism | KEGG | 162 | 7 | 0.73 | 9.61 | 9.46e-06 | 0.0001 |
ID | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-value |
---|
chromosome | begin | end | disorder MIM number | disorder | phene mapping key | gene/locus MIM number | cytogenetic loaction |
---|---|---|---|---|---|---|---|
chr7 | 128031330 | 128051036 | 613837 | Leber congenital amaurosis 11 | 3 | 146690 | 7q32.1 |
chr7 | 128031330 | 128051036 | 180105 | Retinitis pigmentosa 10 | 3 | 146690 | 7q32.1 |
chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
---|---|---|---|---|---|---|---|
chr7 | 128031330 | 128051036 | 3614 | Impdh1 | MGI:96567 | MP:0005384 | cellular phenotype |
chr7 | 128031330 | 128051036 | 3614 | Impdh1 | MGI:96567 | MP:0005387 | immune system phenotype |
chr7 | 128031330 | 128051036 | 3614 | Impdh1 | MGI:96567 | MP:0005397 | hematopoietic system phenotype |
If you cannot see the mutation spectrum below, please download and install the SVG plugin by clicking here.
If you cannot see the gene-disease network below, please download and install the SVG plugin by clicking here.
Contact us if you are an author of a study regarding this gene and do not find your study in RetinoGenetics or find errors in the representation of your study details.