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MFN2
mitofusin 2
gene with protein product
OMIM: 608507
5 заболеваний
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
4
Hereditary motor and sensory neuropathy type 5
ORPHA:64751
→
Severe early-onset axonal neuropathy due to MFN2 deficiency
ORPHA:90118
→
Hereditary motor and sensory neuropathy type 6
ORPHA:90120
→
Autosomal dominant Charcot-Marie-Tooth disease type 2A2
ORPHA:99947
→
Disease-causing germline mutation(s) (loss of function) in
1
Multiple symmetric lipomatosis
ORPHA:2398
→
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Редкие заболевания
MFN2
🧬
MFN2
mitofusin 2
gene with protein product
OMIM: 608507
5 заболеваний
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
4
Hereditary motor and sensory neuropathy type 5
ORPHA:64751
→
Severe early-onset axonal neuropathy due to MFN2 deficiency
ORPHA:90118
→
Hereditary motor and sensory neuropathy type 6
ORPHA:90120
→
Autosomal dominant Charcot-Marie-Tooth disease type 2A2
ORPHA:99947
→
Disease-causing germline mutation(s) (loss of function) in
1
Multiple symmetric lipomatosis
ORPHA:2398
→