DiseaseInfo Viewer : HIX0008547
| Transcripts | HIT000000016 HIT000018898 HIT000019611 HIT000044716 HIT000046088 HIT000048905 HIT000081600 HIT000086004 HIT000087038 HIT000089095 HIT000091526 HIT000096347 HIT000099299 HIT000264361 HIT000336008 HIT000388485 HIT000388486 HIT000393992 HIT000429588 HIT000449383 :
(show all transcripts) |
|---|---|
| UCSC Genome browser | chr9:139334548-139377507 |
| G-integra | chr9:139334548-139377507 |
| Map position | 9q34.3 |
| Symbol | KIAA0310 |
| OMIM | NA |
| Disease name | NA |
| MutationView | - |
Orphan diseases co-localized with HIX0008547
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 | JBTS1 | 213300 | 50955 | 33180 | 9q343 | 211 | Joubert syndrome 1 | OMIM |
| 2 | SCAR2 | 213200 | 1165 | 34060 | 9q343 | 211 | spinocerebellar ataxia, autosomal recessive 2 | OMIM |
| 3 | DFNB33 | 607239 | 170508 | 34144 | 9q34 | 469 | deafness, autosomal recessive 33 | OMIM |
| 4 | SPDA2 | 183840 | 791255 | - | 9q31-q34 | 955 | Spondyloarthropathy, susceptibility to, 2 | OMIM |
| 5 | HCHGQ2 | 609320 | 100381205 | 34875 | 9q | 1739 | Hematocrit/hemoglobin quantitative trait locus 2 | OMIM |
| 6 | SPG19 | 607152 | 140907 | 34669 | 9q | 1739 | spastic paraplegia 19 (autosomal dominant) | OMIM |
This database and viewer were originally developed by Dr. Boris Lenhard at Karolinska Institute.
$Revision: 1.58.2.9.2.46 $