Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4081
Gene Symbol: MAB21L1
MAB21L1
0.300 Biomarker phenotype GENOMICS_ENGLAND MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome). 30487245 2019