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ATAD3A
ATPase family AAA domain containing 3A
gene with protein product
OMIM: 612316
4 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
2
Ocular anomalies-axonal neuropathy-developmental delay syndrome
ORPHA:496790
→
Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation
ORPHA:615983
→
Роль в фенотипе
2
1p36.33 duplication syndrome
ORPHA:656279
→
Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster
ORPHA:615986
→
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Редкие заболевания
ATAD3A
🧬
ATAD3A
ATPase family AAA domain containing 3A
gene with protein product
OMIM: 612316
4 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
2
Ocular anomalies-axonal neuropathy-developmental delay syndrome
ORPHA:496790
→
Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation
ORPHA:615983
→
Роль в фенотипе
2
1p36.33 duplication syndrome
ORPHA:656279
→
Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster
ORPHA:615986
→