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COL11A1
collagen type XI alpha 1 chain
gene with protein product
OMIM: 120280
5 заболеваний
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
4
Marshall syndrome
ORPHA:560
→
Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
ORPHA:440354
→
Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
ORPHA:90635
→
Stickler syndrome type 2
ORPHA:90654
→
Disease-causing germline mutation(s) (loss of function) in
1
Fibrochondrogenesis
ORPHA:2021
→
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Редкие заболевания
COL11A1
🧬
COL11A1
collagen type XI alpha 1 chain
gene with protein product
OMIM: 120280
5 заболеваний
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
4
Marshall syndrome
ORPHA:560
→
Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
ORPHA:440354
→
Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
ORPHA:90635
→
Stickler syndrome type 2
ORPHA:90654
→
Disease-causing germline mutation(s) (loss of function) in
1
Fibrochondrogenesis
ORPHA:2021
→