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NR4A2
nuclear receptor subfamily 4 group A member 2
gene with protein product
OMIM: 601828
3 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Роль в фенотипе
1
Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion
ORPHA:1617
→
Disease-causing germline mutation(s) (loss of function) in
1
Autosomal dominant dopa-responsive dystonia
ORPHA:98808
→
Герминативная мутация (причина)
1
Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation
ORPHA:660012
→
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Редкие заболевания
NR4A2
🧬
NR4A2
nuclear receptor subfamily 4 group A member 2
gene with protein product
OMIM: 601828
3 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Роль в фенотипе
1
Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion
ORPHA:1617
→
Disease-causing germline mutation(s) (loss of function) in
1
Autosomal dominant dopa-responsive dystonia
ORPHA:98808
→
Герминативная мутация (причина)
1
Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation
ORPHA:660012
→