Source: HPO

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: 175
Gene Symbol: AGA
AGA 		aspartylglucosaminidase 0.570 0.808 4.3E-06
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		phenotype 1.000 None 0.960 0 0 1990 2019
Entrez Id: 175
Gene Symbol: AGA
AGA 		aspartylglucosaminidase 0.570 0.808 4.3E-06
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		disease 0.120 None 1.000 0 0 2010 2016
Entrez Id: 175
Gene Symbol: AGA
AGA 		aspartylglucosaminidase 0.570 0.808 4.3E-06
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 175
Gene Symbol: AGA
AGA 		aspartylglucosaminidase 0.570 0.808 4.3E-06
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		phenotype 0.100 None 0 0
Entrez Id: 175
Gene Symbol: AGA
AGA 		aspartylglucosaminidase 0.570 0.808 4.3E-06
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.100 None 0 0
Entrez Id: 175
Gene Symbol: AGA
AGA 		aspartylglucosaminidase 0.570 0.808 4.3E-06
CUI: C1836855
Disease: Vacuolated lymphocytes
Vacuolated lymphocytes 		phenotype 0.100 None 0 0
Entrez Id: 175
Gene Symbol: AGA
AGA 		aspartylglucosaminidase 0.570 0.808 4.3E-06
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		phenotype 0.100 None 0 0
Entrez Id: 175
Gene Symbol: AGA
AGA 		aspartylglucosaminidase 0.570 0.808 4.3E-06
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype 0.100 None 0 0
Entrez Id: 175
Gene Symbol: AGA
AGA 		aspartylglucosaminidase 0.570 0.808 4.3E-06
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		phenotype 0.100 None 0 0
Entrez Id: 175
Gene Symbol: AGA
AGA 		aspartylglucosaminidase 0.570 0.808 4.3E-06
CUI: C1328440
Disease: Abnormality of amino acid metabolism
Abnormality of amino acid metabolism 		phenotype 0.100 None 0 0
Entrez Id: 175
Gene Symbol: AGA
AGA 		aspartylglucosaminidase 0.570 0.808 4.3E-06
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		disease 0.100 None 0 0
Entrez Id: 175
Gene Symbol: AGA
AGA 		aspartylglucosaminidase 0.570 0.808 4.3E-06
CUI: C1263023
Disease: Macroorchidism
Macroorchidism 		disease 0.100 None 0 0
Entrez Id: 175
Gene Symbol: AGA
AGA 		aspartylglucosaminidase 0.570 0.808 4.3E-06
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		group 0.100 None 0 0
Entrez Id: 175
Gene Symbol: AGA
AGA 		aspartylglucosaminidase 0.570 0.808 4.3E-06
CUI: C0702166
Disease: Acne
Acne 		disease 0.100 None 0 0
Entrez Id: 175
Gene Symbol: AGA
AGA 		aspartylglucosaminidase 0.570 0.808 4.3E-06
CUI: C0700201
Disease: Dyssomnias
Dyssomnias 		disease 0.100 None 0 0
Entrez Id: 175
Gene Symbol: AGA
AGA 		aspartylglucosaminidase 0.570 0.808 4.3E-06
CUI: C0580413
Disease: Prothrombin time low
Prothrombin time low 		phenotype 0.100 None 0 0
Entrez Id: 175
Gene Symbol: AGA
AGA 		aspartylglucosaminidase 0.570 0.808 4.3E-06
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype 0.100 None 0 0
Entrez Id: 175
Gene Symbol: AGA
AGA 		aspartylglucosaminidase 0.570 0.808 4.3E-06
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 0
Entrez Id: 175
Gene Symbol: AGA
AGA 		aspartylglucosaminidase 0.570 0.808 4.3E-06
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		disease 0.100 None 0 0
Entrez Id: 175
Gene Symbol: AGA
AGA 		aspartylglucosaminidase 0.570 0.808 4.3E-06
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 0
Entrez Id: 175
Gene Symbol: AGA
AGA 		aspartylglucosaminidase 0.570 0.808 4.3E-06
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype 0.100 None 0 0
Entrez Id: 175
Gene Symbol: AGA
AGA 		aspartylglucosaminidase 0.570 0.808 4.3E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.100 None 0 0
Entrez Id: 175
Gene Symbol: AGA
AGA 		aspartylglucosaminidase 0.570 0.808 4.3E-06
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		phenotype 0.100 None 0 0
Entrez Id: 175
Gene Symbol: AGA
AGA 		aspartylglucosaminidase 0.570 0.808 4.3E-06
CUI: C4021541
Disease: Anterior beaking of lumbar vertebrae
Anterior beaking of lumbar vertebrae 		disease 0.100 None 0 0
Entrez Id: 175
Gene Symbol: AGA
AGA 		aspartylglucosaminidase 0.570 0.808 4.3E-06
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology 		disease 0.100 None 0 0