EGFR, epidermal growth factor receptor, 1956

N. diseases: 1394; N. variants: 183
Disease: INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs606231253
rs606231253
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C4015130
Disease:
INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 		A 0.800 CausalMutation CLINVAR
dbSNP: rs606231253
rs606231253
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C4015130
Disease:
INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 		0.800 GeneticVariation UNIPROT