Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C4015130
Disease: INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2
INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 		0.700 Biomarker GENOMICS_ENGLAND EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features. 26436111

2015
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C4015130
Disease: INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2
INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 		0.700 GeneticVariation UNIPROT Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR. 24691054

2014
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C4015130
Disease: INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2
INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 		0.700 Biomarker CTD_human