Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2
0.700 Biomarker disease GENOMICS_ENGLAND EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features. 26436111 2015
INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2
0.700 GeneticVariation disease UNIPROT Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR. 24691054 2014
INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2
0.700 Biomarker disease CTD_human
INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2
0.700 CausalMutation disease CLINVAR