Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4081
Gene Symbol: MAB21L1
MAB21L1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.300 Biomarker GENOMICS_ENGLAND MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome). 30487245

2019