DiseaseInfo Viewer : HIX0003997
| Transcripts | HIT000001697 HIT000004788 HIT000007633 HIT000017229 HIT000020413 HIT000020544 HIT000028886 HIT000046940 HIT000048372 HIT000094616 HIT000096154 HIT000260041 HIT000261737 HIT000335761 HIT000335836 HIT000335868 HIT000336110 HIT000338172 HIT000340198 HIT000498298 :
(show all transcripts) |
|---|---|
| UCSC Genome browser | chr4:419224-493442 |
| G-integra | chr4:419224-493442 |
| Map position | 4p16.3 |
| Symbol | KIAA1982 |
| OMIM | NA |
| Disease name | NA |
| MutationView | - |
Orphan diseases co-localized with HIX0003997
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 | LOC619409 | 609456 | 619409 | 34998 | 4p163 | 157 | muscular dystrophy, congenital, merosin-positive | OMIM |
| 2 | PLSA1 | 611637 | 100240702 | - | 4p16 | 355 | Primary lateral sclerosis, adult, 1 | OMIM |
| 3 | SLEB3 | 605480 | 64695 | 33890 | 4p16-p152 | 473 | systemic lupus erythematosus susceptibility 3 | OMIM |
| 4 | SLEB3 | 605480 | 64695 | 33969 | 4p16-p152 | 473 | systemic lupus erythematosus susceptibility 3 | OMIM |
| 5 | MNDEC | 611863 | 100188855 | - | 4p16-p15 | 492 | Microtia with nasolacrimal duct imperforation and eye coloboma | OMIM |
| 6 | SPG38 | 612335 | 100049707 | - | 4p16-p15 | 492 | spastic paraplegia 38 (autosomal dominant, Silver syndrome) | OMIM |
| 7 | MHW1 | 603663 | 10386 | 30953 | 4p | 653 | Mental health wellness 1 | OMIM |
| 8 | INTLQ1 | 603783 | 100462721 | - | 4p16-q34 | 1733 | Intelligence QTL1 | OMIM |
This database and viewer were originally developed by Dr. Boris Lenhard at Karolinska Institute.
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