Source: UNIPROT

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B 		paired like homeobox 2B 0.565 0.731 0.94
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation 		disease 1.000 strong 0.958 3 0 2002 2020
Entrez Id: 5979
Gene Symbol: RET
RET 		ret proto-oncogene 0.392 0.885 1.00
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation 		disease 0.750 None 1.000 3 4 1996 2017
Entrez Id: 627
Gene Symbol: BDNF
BDNF 		brain derived neurotrophic factor 0.345 0.923 0.66
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation 		disease 0.620 limited 1.000 1 1 2002 2018
Entrez Id: 2668
Gene Symbol: GDNF
GDNF 		glial cell derived neurotrophic factor 0.434 0.885 0.20
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation 		disease 0.600 limited 1.000 1 1 1998 1998