Variant: rs36119840 

    present in Gene: GDNF-AS1;GDNF
    present in Chromosome: 5
    Position on Chromosome: 37816010
    Alleles of this Variant: G/A

rs36119840 in GDNF-AS1;GDNF gene and Congenital central hypoventilation PMID 20208042 2010 An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.

PMID 9497256 1998 Mutations of the RET-GDNF signaling pathway in Ondine's curse.

rs36119840 in GDNF-AS1;GDNF gene and HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3 PMID 8896568 1996 Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient.

PMID 8968758 1996 De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease.

PMID 10917288 2000 Pathogenesis of Hirschsprung's disease.

PMID 8896569 1996 Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease.

rs36119840 in GDNF-AS1;GDNF gene and Pheochromocytoma PMID 9215674 1997 No GDNF mutations were identified in patients with familial phaeochromocytoma disease, but a c277C-->T (R93W) sequence variant was identified in one of 28 sporadic tumours.