Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.730 Biomarker disease CLINGEN Effect of inbreeding on intellectual disability revisited by trio sequencing. 30315573 2019
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.730 Biomarker disease CLINGEN Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency. 29375865 2018
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.730 Biomarker disease CLINGEN Asparagine Synthetase Deficiency (ASD) is a recently described inborn error of metabolism caused by bi-allelic pathogenic variants in the asparagine synthetase (ASNS) gene. 29279279 2018
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.730 Biomarker disease CLINGEN Novel Mutations in the Asparagine Synthetase Gene (ASNS) Associated With Microcephaly. 30057589 2018
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.730 Biomarker disease CLINGEN Report of four novel variants in ASNS causing asparagine synthetase deficiency and review of literature. 29405484 2018
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.730 Biomarker disease CLINGEN Increasing the sensitivity of clinical exome sequencing through improved filtration strategy. 27711071 2017
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.730 Biomarker disease CLINGEN The first report of Japanese patients with asparagine synthetase deficiency. 27743885 2017
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.730 Biomarker disease GENOMICS_ENGLAND To date, seven families and seven missense mutations in the ASNSD disease causing gene, ASNS, have been published. 27469131 2017
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.730 Biomarker disease CLINGEN To date, seven families and seven missense mutations in the ASNSD disease causing gene, ASNS, have been published. 27469131 2017
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.730 Biomarker disease CLINGEN Asparagine synthetase deficiency is a rare inborn error of metabolism caused by a defect in ASNS, a gene encoding asparagine synthetase. 28776279 2017
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.730 Biomarker disease CLINGEN Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report. 27422383 2016
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.730 Biomarker disease CLINGEN Mosaic parental germline mutations causing recurrent forms of malformations of cortical development. 26395554 2016
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.730 Biomarker disease CLINGEN Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay. 25227173 2015
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.730 Biomarker disease CLINGEN Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism. 25663424 2015
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.730 Biomarker disease CLINGEN Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine. 26318253 2015
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.730 GeneticVariation disease UNIPROT Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy. 24139043 2013
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.730 Biomarker disease CLINGEN Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy. 24139043 2013
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.730 GermlineCausalMutation disease ORPHANET Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy. 24139043 2013
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.730 Biomarker disease CLINGEN Asparagine biosynthesis by the Novikoff Hepatoma isolation, purification, property, and mechanism studies of the enzyme system. 4295091 1968
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.730 Biomarker disease CTD_human
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.730 Biomarker disease GENOMICS_ENGLAND
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.510 Biomarker disease CTD_human Discriminating between adaptive and carcinogenic liver hypertrophy in rat studies using logistic ridge regression analysis of toxicogenomic data: The mode of action and predictive models. 28108177 2017
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		0.500 Biomarker group CTD_human Discriminating between adaptive and carcinogenic liver hypertrophy in rat studies using logistic ridge regression analysis of toxicogenomic data: The mode of action and predictive models. 28108177 2017
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.300 Biomarker disease CTD_human Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136 2014
CUI: C0023794
Disease: Lipoidosis
Lipoidosis 		0.300 Biomarker disease CTD_human Determination of phospholipidosis potential based on gene expression analysis in HepG2 cells. 17175557 2007