← Назад
🧬

SH2B1

SH2B adaptor protein 1

gene with protein productOMIM: 6089373 заболевания
GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Роль в фенотипе2
Distal 16p11.2 microdeletion syndromeORPHA:261222
→
Proximal 16p11.2 microdeletion syndromeORPHA:261197
→
Disease-causing germline mutation(s) (loss of function) in1
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiencyORPHA:329249
→
Данные: Orphadata (CC-BY-4.0)