AASS, aminoadipate-semialdehyde synthase, 10157

N. diseases: 34; N. variants: 7
Disease: Hyperlysinemias ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		0.720 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		0.720 Biomarker disease CLINGEN High-throughput discovery of novel developmental phenotypes. 27626380 2016
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		0.720 Biomarker disease CLINGEN Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		0.720 GermlineCausalMutation disease ORPHANET Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency. 23890588 2013
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		0.720 Biomarker disease CLINGEN Hyperlysinemia is caused by mutations in AASS. 23570448 2013
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		0.720 Biomarker disease CLINGEN Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency. 23890588 2013
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		0.720 GermlineCausalMutation disease ORPHANET Hyperlysinemia is caused by mutations in AASS. 23570448 2013
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		0.720 GeneticVariation disease BEFREE Hyperlysinemia is caused by mutations in AASS. 23570448 2013
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		0.720 Biomarker disease 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
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		0.720 GermlineCausalMutation disease 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
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		0.720 GeneticVariation disease BEFREE 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
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		0.720 Biomarker disease 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
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		0.720 Biomarker disease CLINGEN Conversion of lysine to saccharopine by human tissues. 4385118 1968
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		0.720 Biomarker disease CTD_human
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		0.720 Biomarker disease HPO
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		0.720 Biomarker disease GENOMICS_ENGLAND