Disease: Holoprosencephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.020 Biomarker disease BEFREE CNOT1 has not been previously associated with holoprosencephaly or other brain malformations. 31006510 2019
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.020 Biomarker disease BEFREE These findings suggest that CNOT1 plays a critical role in pancreatic and neurological development and describe a novel genetic syndrome of pancreatic agenesis and holoprosencephaly. 31006513 2019