GDNF, glial cell derived neurotrophic factor, 2668

N. diseases: 409; N. variants: 13
Disease: Congenital central hypoventilation ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs36119840
rs36119840 		0.807 0.280 5 37816010 missense variant G/A snv 2.3E-03 2.7E-03
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases 0.700 1.000 2 1998 2010