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SLC19A3

solute carrier family 19 member 3

gene with protein productOMIM: 6061523 заболевания
GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Герминативная мутация (причина)3
Thiamine-responsive encephalopathyORPHA:199348
→
Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndromeORPHA:263410
→
Biotin-thiamine-responsive basal ganglia diseaseORPHA:65284
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Данные: Orphadata (CC-BY-4.0)