Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY
0.700 Biomarker disease GENOMICS_ENGLAND A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism. 28257692 2017
BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY
0.700 CausalMutation disease CLINVAR
BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY
0.700 Biomarker disease CTD_human
BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY
0.700 GeneticVariation disease UNIPROT A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism. 28257692 2017