Maladies localisées sur le chromosome 11 |
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Pathologie | Transmission | O.M.I.M | Locus | Gène | Protéine codée par le gène |
Bras long |
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| | | Q25 | | |
| | | Q24 | | |
Porphyrie aiguë intermittente | | | q23.3 | | |
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| | | q23.1 | | |
Glycogénose type 1a | Récessive | 232220 | q23 | SLC37A4 | |
Syndrome de Jacobsen | Dominante | 147791 | q23 | | |
Thrombopénie de Paris-Trousseau | Dominante | 188025 | q23 | | |
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Myopathie avec surcharge en desmine | Dominante | 601419 | q22.3 | CRYAB | |
Maladie de Charcot-Marie-Tooth type 4 | | | Q22 | | |
Surdité d'origine génétique | | | Q22 | | |
Ataxie télangiectasie | | | Q22 | | |
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| | | Q22 | | |
Albinisme oculo-cutané type I | | | | | |
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| | | Q14 | | |
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Surdité d'origine génétique | | | Q13.5 | | |
| | | Q13.3 | | |
| | | Q13.3 | | |
Syndrome de Smith-Lemli-Opitz | | | Q13 | | |
Maladie de Mc Ardle | | | Q13 | | |
Syndrome de Bardet-Biedl | | | Q13 | | |
Maladie de Best | | | Q13 | | |
Lipodystrophie congénitale de Berardinelli-Seip | | | Q13 | | |
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| | | Q12 | | |
| | | Q11 | | |
| | | Q11 | | |
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Bras court |
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| | | P11 | | |
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| | | P11 | | |
| | | P11 | | |
| | | P11 | | |
| | | P12 | | |
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| | | P12 | | |
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| | | P14 | | |
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| | | P15 | | |
Syndrome de Romano-Ward | | | | | |
Maladie de Charcot-Marie-Tooth type 4 | | | | | |
Nésidioblastose du pancréas | | | P15.1 | | |
Syndrome de Jervell et Lange-Nielsen | Récessive | 220400 | p15.5 | KCNQ1 | |
| | | p15.5 | | |
Syndrome de Costello | Dominante | 218040 | p15.5 | HRAS | |