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SETBP1
SET binding protein 1
gene with protein product
OMIM: 611060
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (gain of function) in
1
Schinzel-Giedion syndrome
ORPHA:798
→
Disease-causing germline mutation(s) (loss of function) in
1
Intellectual disability-expressive aphasia-facial dysmorphism syndrome
ORPHA:436151
→
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Редкие заболевания
SETBP1
🧬
SETBP1
SET binding protein 1
gene with protein product
OMIM: 611060
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (gain of function) in
1
Schinzel-Giedion syndrome
ORPHA:798
→
Disease-causing germline mutation(s) (loss of function) in
1
Intellectual disability-expressive aphasia-facial dysmorphism syndrome
ORPHA:436151
→