DiseaseInfo Viewer : HIX0010464
| Transcripts | HIT000040928 HIT000086535 HIT000218087 HIT000424574 HIT000425728 HIT000496458 HIT000499484 HIT000499747 HIT000499852 |
|---|---|
| UCSC Genome browser | chr12:15773070-15942510 |
| G-integra | chr12:15773070-15942510 |
| Map position | 12p12.3 |
| Symbol | EPS8 |
| OMIM | NA |
| Disease name | NA |
| MutationView | - |
Orphan diseases co-localized with HIX0010464
The number of co-localized H-Inv loci was computed by converting each cytogenetic band into a physical range on the chromosome, with additional 1000000 bp added on each side.
| Symbol | OMIM phenotype | Entrez Gene | GenAtlas |
Cytogenetic band (Link to the latest human genome on UCSC Genome Browser) |
Number-of co-localized H-Inv loci (Click for list) | Description | Source | |
|---|---|---|---|---|---|---|---|---|
| 1 | EDS8 | 130080 | 791254 | 34480 | 12p13 | 585 | Ehlers-Danlos syndrome, type VIII | OMIM |
| 2 | SAX1 | 108600 | 114610 | 34111 | 12p13 | 585 | spastic ataxia 1 (autosomal dominant) | OMIM |
| 3 | DFNB62 | 610143 | 692220 | 35315 | 12p132-p1123 | 366 | deafness, autosomal recessive 62 | OMIM |
| 4 | DFNB32 | - | 113877 | 34142 | 12p13-p11 | 744 | neurosensory desfness 32 | GenAtlas |
| 5 | KAR | 107920 | 8083 | - | 12p | 744 | Aromatic alpha-keto acid reductase | OMIM |
| 6 | IBD2 | 601458 | 3378 | 7615 | 12p132-q241 | 1511 | inflammatory bowel disease 2 | OMIM |
| 7 | TELM | 609113 | 550641 | 35207 | 12 | 2213 | telomere length, mean leukocyte | OMIM |
| 8 | TELM | 609113 | 550641 | 35208 | 12 | 2213 | telomere length, mean leukocyte | OMIM |
This database and viewer were originally developed by Dr. Boris Lenhard at Karolinska Institute.
$Revision: 1.58.2.9.2.46 $