RET, ret proto-oncogene, 5979

N. diseases: 607; N. variants: 162
Disease: Congenital central hypoventilation ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs552057730
rs552057730
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C1275808
Disease:
Congenital central hypoventilation 		0.700 GeneticVariation UNIPROT Molecular analysis of congenital central hypoventilation syndrome. 14566559 2003
dbSNP: rs552057730
rs552057730
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C1275808
Disease:
Congenital central hypoventilation 		0.700 GeneticVariation UNIPROT Congenital central hypoventilation syndrome: a novel mutation of the RET gene in an isolated case. 12086152 2002
dbSNP: rs552057730
rs552057730
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C1275808
Disease:
Congenital central hypoventilation 		0.700 GeneticVariation UNIPROT Mutations of the RET-GDNF signaling pathway in Ondine's curse. 9497256 1998