Genes identified for diseases on chromosome 14
| Disease | OMIM accession number | Map location | Gene |
|---|---|---|---|
| Retinitis pigmentosa | 162080 | 14q11.1-q11.2 | Neural retina leucine zipper (NRL) |
| Lysinuric protein intolerance | 603593 | 14q11.2 | Solute carrier family 7, member 7 (SLC7A7) |
| Congenital ichthyosiform erythroderma | 190195 | 14q11.2 | Transglutamase-1 type I (TGM1) |
| Oculopharyngeal muscular dystrophy | 602279 | 14q11.2-q13 | Poly(A) binding protein, nuclear 1 (PAB2) |
| Familial hypertrophic cardiomyopathy | 160760 | 14q12 | Myosin, heavy polypeptide 7 (MYH7) |
| Deafness, autosomal dominant 9 | 603196 | 14q12-q13 | Cochlin (COCH) |
| Autosomal dominant oligodontia | 167416 | 14q13 | Paired box homeobox gene 9 (PAX9) |
| Nucleoside phosphorylase deficiency | 164050 | 14q13.1 | Nucleoside phosphorylase (NP) |
| Carbohydrate deficient glycoprotein syndrome type II | 602616 | 14q21 | Mannosyl(alpha 1,6) glycoprotein beta 1,2-N acetylglucosaminyl-transferase (MGAT2) |
| Glycogen storage disease VI | 232700 | 14q21-q22 | Glycogen phosphorylase, liver (PYGL) |
| Elliptocytosis | 182870 | 14q22-q23.2 | Spectrin, beta, erythrocytic (SPTB) |
| Dystonia DOPA responsive | 600225 | 14q22.1-q22.2 | GTP cyclohydrolase 1 (GCH1) |
| Molybdenum cofactor deficiency type C | 603930 | 14q23 | Gephyrin (GPH) |
| Micropthalmia, cataracts, and iris abnormalities | 142993 | 14q24.3 | C elegans ceh-10 homeo domain containing homologue (CHX10) |
| Alzheimer disease 3 | 104311 | 14q24.3 | Presenilin 1 (PSEN1) |
| Micropthalmia, cataracts, and iris abnormalities | 142993 | 14q24.3 | C elegans ceh-10 homeo domain containing homologue (CHX10) |
| Methylmalonate semialdehyde dehydrogenase deficiency | 603178 | 14q24.3 | Aldehyde dehydrogenase 6 family, member A1 (ALDH6A1) |
| Machado-Joseph disease | 109150 | 14q24.3-q31 | Spinocerebellar ataxia 3 (SCA3) |
| Krabbe disease | 245200 | 14q31 | Galactosylceraminidase (GALC) |
| Graves disease | 603372 | 14q31 | Thyroid stimulating hormone receptor (TSHR) |
| Alpha-1-antichymotrypsin deficiency | 107280 | 14q32.1 | Alpha-1-antichymotrypsin (AACT) |