Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2984
Gene Symbol: GUCY2C
GUCY2C
0.320 GermlineCausalMutation disease ORPHANET We identified novel de novo missense mutations in GUCY2C, the gene encoding receptor guanylate cyclase C (GC-C) in 4 patients with CSD. 25994218 2016
Entrez Id: 2984
Gene Symbol: GUCY2C
GUCY2C
0.320 Biomarker disease BEFREE We identified novel de novo missense mutations in GUCY2C, the gene encoding receptor guanylate cyclase C (GC-C) in 4 patients with CSD. 25994218 2016
Entrez Id: 2984
Gene Symbol: GUCY2C
GUCY2C
0.320 GeneticVariation disease BEFREE Therefore, we aimed to determine the genetic cause for non-GC-C non-syndromic CSD in 18 patients from 16 unrelated families applying whole-exome sequencing and/or chromosomal microarray analyses and/or direct Sanger sequencing. 26358773 2015