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GJA8
gap junction protein alpha 8
gene with protein product
OMIM: 600897
6 заболеваний
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
5
Cataract-microcornea syndrome
ORPHA:1377
→
Isolated congenital sclerocornea
ORPHA:91490
→
Early-onset sutural cataract
ORPHA:98985
→
Early-onset nuclear cataract
ORPHA:98991
→
Total early-onset cataract
ORPHA:98994
→
Disease-causing germline mutation(s) (loss of function) in
1
Pulverulent cataract
ORPHA:98984
→
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Редкие заболевания
GJA8
🧬
GJA8
gap junction protein alpha 8
gene with protein product
OMIM: 600897
6 заболеваний
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
5
Cataract-microcornea syndrome
ORPHA:1377
→
Isolated congenital sclerocornea
ORPHA:91490
→
Early-onset sutural cataract
ORPHA:98985
→
Early-onset nuclear cataract
ORPHA:98991
→
Total early-onset cataract
ORPHA:98994
→
Disease-causing germline mutation(s) (loss of function) in
1
Pulverulent cataract
ORPHA:98984
→