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SLC19A3
solute carrier family 19 member 3
gene with protein product
OMIM: 606152
3 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
3
Thiamine-responsive encephalopathy
ORPHA:199348
→
Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
ORPHA:263410
→
Biotin-thiamine-responsive basal ganglia disease
ORPHA:65284
→
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SLC19A3
🧬
SLC19A3
solute carrier family 19 member 3
gene with protein product
OMIM: 606152
3 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
3
Thiamine-responsive encephalopathy
ORPHA:199348
→
Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
ORPHA:263410
→
Biotin-thiamine-responsive basal ganglia disease
ORPHA:65284
→