Source: CURATED

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: 2517
Gene Symbol: FUCA1
FUCA1 		alpha-L-fucosidase 1 0.623 0.577 2.7E-08
CUI: C0016788
Disease: Fucosidase Deficiency Disease
Fucosidase Deficiency Disease 		disease 1.000 None 1.000 8 13 1988 2019
Entrez Id: 2517
Gene Symbol: FUCA1
FUCA1 		alpha-L-fucosidase 1 0.623 0.577 2.7E-08
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.400 strong 1.000 1 0 1993 1993
Entrez Id: 2517
Gene Symbol: FUCA1
FUCA1 		alpha-L-fucosidase 1 0.623 0.577 2.7E-08
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.400 strong 1.000 1 0 1992 1992
Entrez Id: 2517
Gene Symbol: FUCA1
FUCA1 		alpha-L-fucosidase 1 0.623 0.577 2.7E-08
CUI: C0268221
Disease: Fucosidosis Type I
Fucosidosis Type I 		disease 0.300 None 0 0
Entrez Id: 2517
Gene Symbol: FUCA1
FUCA1 		alpha-L-fucosidase 1 0.623 0.577 2.7E-08
CUI: C0268222
Disease: Fucosidosis Type II
Fucosidosis Type II 		disease 0.300 None 0 0