Source: GENOMICS_ENGLAND

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: 4758
Gene Symbol: NEU1
NEU1 		neuraminidase 1 0.513 0.769 7.3E-05
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		disease 0.720 strong 1.000 2 0 1996 2014
Entrez Id: 4758
Gene Symbol: NEU1
NEU1 		neuraminidase 1 0.513 0.769 7.3E-05
CUI: C0268226
Disease: Type I Mucolipidosis
Type I Mucolipidosis 		disease 0.700 strong 1.000 2 0 1984 2020
Entrez Id: 4758
Gene Symbol: NEU1
NEU1 		neuraminidase 1 0.513 0.769 7.3E-05
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses 		disease 0.600 strong 1.000 3 0 1984 2018
Entrez Id: 4758
Gene Symbol: NEU1
NEU1 		neuraminidase 1 0.513 0.769 7.3E-05
CUI: C0268228
Disease: Neuraminidase 1 deficiency
Neuraminidase 1 deficiency 		disease 0.540 strong 1.000 2 0 2004 2019
Entrez Id: 4758
Gene Symbol: NEU1
NEU1 		neuraminidase 1 0.513 0.769 7.3E-05
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		disease 0.400 strong 1.000 1 0 2001 2001
Entrez Id: 4758
Gene Symbol: NEU1
NEU1 		neuraminidase 1 0.513 0.769 7.3E-05
CUI: C2673285
Disease: Hydrops fetalis (type II, congenital)
Hydrops fetalis (type II, congenital) 		phenotype 0.300 strong 1.000 1 0 2001 2001