SNRPN
small nuclear ribonucleoprotein polypeptide N
Ассоциированные заболевания
Роль в фенотипе6
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1ORPHA:177901
→Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2ORPHA:177904
→Prader-Willi syndrome due to translocationORPHA:177907
→Prader-Willi syndrome due to imprinting mutationORPHA:177910
→Angelman syndrome due to imprinting defect in 15q11-q13ORPHA:411515
→Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15ORPHA:98754
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