Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1822
Gene Symbol: ATN1
ATN1
CUI: C0270971
Disease: Floppy infant syndrome
Floppy infant syndrome
0.010 GeneticVariation BEFREE 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