Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26007
Gene Symbol: TKFC
TKFC
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.300 Biomarker GENOMICS_ENGLAND Shared phenotypes between affected individuals with TKFC deficiency include cataracts and developmental delay, associated with cerebellar hypoplasia in one case. 32004446

2020