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