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SH2B1
SH2B adaptor protein 1
gene with protein product
OMIM: 608937
3 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Роль в фенотипе
2
Distal 16p11.2 microdeletion syndrome
ORPHA:261222
→
Proximal 16p11.2 microdeletion syndrome
ORPHA:261197
→
Disease-causing germline mutation(s) (loss of function) in
1
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
ORPHA:329249
→
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Редкие заболевания
SH2B1
🧬
SH2B1
SH2B adaptor protein 1
gene with protein product
OMIM: 608937
3 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Роль в фенотипе
2
Distal 16p11.2 microdeletion syndrome
ORPHA:261222
→
Proximal 16p11.2 microdeletion syndrome
ORPHA:261197
→
Disease-causing germline mutation(s) (loss of function) in
1
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
ORPHA:329249
→