Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1822
Gene Symbol: ATN1
ATN1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 Biomarker GENOMICS_ENGLAND To distinguish this subset of affected individuals from the DRPLA diagnosis, we suggest using the term CHEDDA (congenital hypotonia, epilepsy, developmental delay, digit abnormalities) to classify the condition. 30827498

2019