NRTN, neurturin, 4902

N. diseases: 43; N. variants: 2
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs7250982
rs7250982
Entrez Id: 4902
Gene Symbol: NRTN
NRTN
CUI: C2985280
Disease:
Blood Protein Measurement 		G 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs766663423
rs766663423
Entrez Id: 4902
Gene Symbol: NRTN
NRTN
CUI: C0019569
Disease:
Hirschsprung Disease 		0.010 GeneticVariation BEFREE Our results suggest that the biological consequence of the mutations NTRN F127L and PSPN R91C would be a reduction in the activation of RET-dependent signaling pathways, leading to a defect in the proliferation, migration, and/or differentiation process of neural crest cells within the developing gut and thus to the typical aganglionosis of the HSCR phenotype. 21206993 2011