Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		0.720 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		0.720 Biomarker CLINGEN High-throughput discovery of novel developmental phenotypes. 27626380

2016
Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		0.720 Biomarker CLINGEN Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		0.720 GermlineCausalMutation ORPHANET Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency. 23890588

2013
Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		0.720 Biomarker CLINGEN Hyperlysinemia is caused by mutations in AASS. 23570448

2013
Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		0.720 Biomarker CLINGEN Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency. 23890588

2013
Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		0.720 GermlineCausalMutation ORPHANET Hyperlysinemia is caused by mutations in AASS. 23570448

2013
Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		0.720 Biomarker CLINGEN On the basis of these and other results, we propose that AASS catalyzes the first two steps of the major lysine-degradation pathway in human cells and that inactivating mutations in the AASS gene are a cause of hyperlysinemia. 10775527

2000
Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		0.720 GermlineCausalMutation ORPHANET On the basis of these and other results, we propose that AASS catalyzes the first two steps of the major lysine-degradation pathway in human cells and that inactivating mutations in the AASS gene are a cause of hyperlysinemia. 10775527

2000
Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		0.720 Biomarker GENOMICS_ENGLAND On the basis of these and other results, we propose that AASS catalyzes the first two steps of the major lysine-degradation pathway in human cells and that inactivating mutations in the AASS gene are a cause of hyperlysinemia. 10775527

2000
Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		0.720 Biomarker CLINGEN Conversion of lysine to saccharopine by human tissues. 4385118

1968
Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		0.720 Biomarker CTD_human

Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		0.720 Biomarker GENOMICS_ENGLAND

Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C0268556
Disease: Saccharopinuria
Saccharopinuria 		0.600 GermlineCausalMutation ORPHANET Genetic basis of hyperlysinemia. 23570448

2013
Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C0268556
Disease: Saccharopinuria
Saccharopinuria 		0.600 GermlineCausalMutation ORPHANET Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia. 10775527

2000
Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C0268556
Disease: Saccharopinuria
Saccharopinuria 		0.600 Biomarker CTD_human

Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C0268556
Disease: Saccharopinuria
Saccharopinuria 		0.600 Biomarker GENOMICS_ENGLAND

Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C0936256
Disease: Lysine Alpha-Ketoglutarate Reductase Deficiency Disease
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease 		0.500 GermlineCausalMutation ORPHANET Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency. 23890588

2013
Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C0936256
Disease: Lysine Alpha-Ketoglutarate Reductase Deficiency Disease
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease 		0.500 GermlineCausalMutation ORPHANET Genetic basis of hyperlysinemia. 23570448

2013
Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C2936921
Disease: Saccharopine dehydrogenase deficiency
Saccharopine dehydrogenase deficiency 		0.500 GermlineCausalMutation ORPHANET Genetic basis of hyperlysinemia. 23570448

2013
Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C0936256
Disease: Lysine Alpha-Ketoglutarate Reductase Deficiency Disease
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease 		0.500 GermlineCausalMutation ORPHANET Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia. 10775527

2000
Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C2936921
Disease: Saccharopine dehydrogenase deficiency
Saccharopine dehydrogenase deficiency 		0.500 GermlineCausalMutation ORPHANET Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia. 10775527

2000
Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C0936256
Disease: Lysine Alpha-Ketoglutarate Reductase Deficiency Disease
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease 		0.500 Biomarker CTD_human

Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C2936921
Disease: Saccharopine dehydrogenase deficiency
Saccharopine dehydrogenase deficiency 		0.500 Biomarker CTD_human

Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C0543533
Disease: Hyperlysinemia, type I
Hyperlysinemia, type I 		0.400 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016