DiseaseInfo Viewer : HIX0013397
| Transcripts | HIT000029410 HIT000030416 HIT000048658 HIT000100081 HIT000218576 HIT000218940 HIT000219855 HIT000219858 HIT000220325 HIT000269186 HIT000272452 HIT000273875 HIT000274313 HIT000278486 HIT000279805 HIT000284429 HIT000287560 HIT000288942 HIT000288968 HIT000289019 :
(show all transcripts) |
|---|---|
| UCSC Genome browser | chr17:1247808-1303556 |
| G-integra | chr17:1247808-1303556 |
| Map position | 17p13.3 |
| Symbol | YWHAE |
| OMIM | 605066 Protein title: TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN, |
| Disease name |
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| MutationView | 605066
(JRE version 1.4.0 or later is required.) |
Orphan diseases co-localized with HIX0013397
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 | MSSD | 609432 | 619407 | - | 17p133 | 151 | syndactyly, mesoaxial synostotic, with phalangeal reduction | OMIM |
| 2 | ASPG2 | 608631 | 431711 | - | 17p13 | 393 | Asperger syndrome, susceptibility to, 2 | OMIM |
| 3 | CTAA2 | 601202 | 1484 | 14586 | 17p13 | 393 | cataract, anterior polar 2 | OMIM |
| 4 | CZP4 | - | - | 30416 | 17p13 | 393 | cataract,pulverulent,zonular 4 | GenAtlas |
| 5 | FIMG1 | 605809 | 8144 | - | 17p13 | 393 | myasthenia gravis, familial infantile, 1 | OMIM |
| 6 | GLC1I | - | - | 33729 | 17p13 | 393 | glaucoma,primary open angle chronic adult onset,characterized by cupping of the optic nerve head,visual field loss and elevated intraocular pressure,in a series of North American mainly caucasians | GenAtlas |
| 7 | NDIC | 605779 | 81866 | 33949 | 17p13 | 393 | Nail dysplasia, isolated congenital | OMIM |
| 8 | SAX2 | 611302 | 100126095 | - | 17p13 | 393 | spastic ataxia 2 (autosomal recessive) | OMIM |
| 9 | SHFLD3 | 612576 | 100270800 | - | 17p133-p131 | 393 | Split-hand/foot malformation with long bone deficiency 3 | OMIM |
| 10 | CACD | 215500 | 772 | 7948 | 17p | 833 | central areolar choroidal dystrophy | OMIM |
| 11 | CHMRQ | 610185 | 780925 | 35304 | 17p | 833 | Cerebellar hypoplasia, mental retardation, and quadrupedal locomotion | OMIM |
This database and viewer were originally developed by Dr. Boris Lenhard at Karolinska Institute.
$Revision: 1.58.2.9.2.46 $