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HNRNPK
heterogeneous nuclear ribonucleoprotein K
gene with protein product
OMIM: 600712
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Роль в фенотипе
1
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
ORPHA:352665
→
Disease-causing germline mutation(s) (loss of function) in
1
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
ORPHA:453504
→
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Редкие заболевания
HNRNPK
🧬
HNRNPK
heterogeneous nuclear ribonucleoprotein K
gene with protein product
OMIM: 600712
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Роль в фенотипе
1
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
ORPHA:352665
→
Disease-causing germline mutation(s) (loss of function) in
1
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
ORPHA:453504
→