Location (from NCBI, GRCh38) |
Gene/Locus | Gene/Locus name |
Gene/Locus MIM number |
Phenotype |
Phenotype MIM number |
Inheritance |
Pheno map key |
Comments |
Mouse symbol (from MGI) |
---|---|---|---|---|---|---|---|---|---|
19:49,906,825-49,929,504
19q13.33 |
NUP62, SNDI, IBSN | Nucleoporin, 62-kD | 605815 | Striatonigral degeneration, infantile | 271930 | Autosomal recessive | 3 | Nup62 | |
19:49,928,906-49,933,935
19q13.33 |
ATF5, ATFX | Activating transcription factor 5 | 606398 | Atf5 | |||||
19:49,948,985-49,961,172
19q13.33 |
SIGLEC11 | Sialic acid-binding immunoglobulin-like lectin 11 | 607157 | pseudogene 8kb upstream | Siglecg | ||||
19:49,976,468-50,025,372
19q13.33 |
VRK3 | VRK serine/threonine kinase 3 | 619771 | Vrk3 | |||||
19:50,026,005-50,048,776
19q13.33 |
ZNF473, ZFP100, KIAA1141 | Zinc finger protein 473 | 617908 | Zfp473 | |||||
19:50,152,548-50,163,281
19q13.33 |
IZUMO2 | IZUMO family, member 2 | 618895 | Izumo2 | |||||
19:50,203,622-50,310,540
19q13.33 |
MYH14, KIAA2034, DFNA4A, PNMHH | Myosin, heavy chain 14, nonmuscle | 608568 | ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss | 614369 | Autosomal dominant | 3 | mutation identified in 1 PNMHH family | Myh14 |
Deafness, autosomal dominant 4A | 600652 | Autosomal dominant | 3 | ||||||
19:50,311,937-50,333,536
19q13.33 |
KCNC3, SCA13 | Potassium voltage-gated channel, Shaw-related subfamily, member 3 | 176264 | Spinocerebellar ataxia 13 | 605259 | Autosomal dominant | 3 | Kcnc3 | |
19:50,358,477-50,365,639
19q13.33 |
NAPA, NAP1, SNAPA | Napsin A | 605631 | Napsa | |||||
19:50,376,457-50,383,388
19q13.33 |
NR1H2, UNR | Nuclear receptor subfamily 1, group H, member 2 (ubiquitously-expressed nuclear receptor) | 600380 | Nr1h2 |