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WFS1
wolframin ER transmembrane glycoprotein
gene with protein product
OMIM: 606201
4 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
3
Wolfram-like syndrome
ORPHA:411590
→
Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
ORPHA:90635
→
Early-onset nuclear cataract
ORPHA:98991
→
Disease-causing germline mutation(s) (loss of function) in
1
Wolfram syndrome
ORPHA:3463
→
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Редкие заболевания
WFS1
🧬
WFS1
wolframin ER transmembrane glycoprotein
gene with protein product
OMIM: 606201
4 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
3
Wolfram-like syndrome
ORPHA:411590
→
Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
ORPHA:90635
→
Early-onset nuclear cataract
ORPHA:98991
→
Disease-causing germline mutation(s) (loss of function) in
1
Wolfram syndrome
ORPHA:3463
→