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FTL
ferritin light chain
gene with protein product
OMIM: 134790
4 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (gain of function) in
2
Hereditary hyperferritinemia-cataract syndrome
ORPHA:163
→
L-ferritin deficiency
ORPHA:440731
→
Герминативная мутация (причина)
2
Neuroferritinopathy
ORPHA:157846
→
Genetic hyperferritinemia without iron overload
ORPHA:254704
→
Disease-causing germline mutation(s) (loss of function) in
1
L-ferritin deficiency
ORPHA:440731
→
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Редкие заболевания
FTL
🧬
FTL
ferritin light chain
gene with protein product
OMIM: 134790
4 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (gain of function) in
2
Hereditary hyperferritinemia-cataract syndrome
ORPHA:163
→
L-ferritin deficiency
ORPHA:440731
→
Герминативная мутация (причина)
2
Neuroferritinopathy
ORPHA:157846
→
Genetic hyperferritinemia without iron overload
ORPHA:254704
→
Disease-causing germline mutation(s) (loss of function) in
1
L-ferritin deficiency
ORPHA:440731
→