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HPRT1

hypoxanthine phosphoribosyltransferase 1

gene with protein productOMIM: 3080002 заболевания
GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Disease-causing germline mutation(s) (loss of function) in2
Lesch-Nyhan syndromeORPHA:510
→
Hypoxanthine guanine phosphoribosyltransferase partial deficiencyORPHA:79233
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Данные: Orphadata (CC-BY-4.0)