ASS1, argininosuccinate synthase 1, 445

N. diseases: 163; N. variants: 86
Disease: Citrullinemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175683
Disease: Citrullinemia
Citrullinemia 		0.900 Biomarker disease BEFREE Citrullinemia is an autosomal recessive disease characterized by an argininosuccinate synthetase (ASS) deficiency. 10610724 1999
CUI: C0175683
Disease: Citrullinemia
Citrullinemia 		0.900 Biomarker disease BEFREE Type II citrullinemia is found in most patients with adult-onset citrullinemia in Japan, and ASS is deficient specifically in the liver. 7556646 1995
CUI: C0175683
Disease: Citrullinemia
Citrullinemia 		0.900 Biomarker disease MGD Generation of a mouse model for citrullinemia by targeted disruption of the argininosuccinate synthetase gene. 8197477 1994
CUI: C0175683
Disease: Citrullinemia
Citrullinemia 		0.900 Biomarker disease CLINGEN Generation of a mouse model for citrullinemia by targeted disruption of the argininosuccinate synthetase gene. 8197477 1994
CUI: C0175683
Disease: Citrullinemia
Citrullinemia 		0.900 Biomarker disease CLINGEN The cloned argininosuccinate synthetase gene from a citrullinemia patient's fibroblast cell line revealed a single base substitution (G to C) within the splice acceptor site of the last intron. 2246255 1990
CUI: C0175683
Disease: Citrullinemia
Citrullinemia 		0.900 Biomarker disease BEFREE The cloned argininosuccinate synthetase gene from a citrullinemia patient's fibroblast cell line revealed a single base substitution (G to C) within the splice acceptor site of the last intron. 2246255 1990
CUI: C0175683
Disease: Citrullinemia
Citrullinemia 		0.900 GeneticVariation disease BEFREE Here we report the nucleotide sequence of the normal bovine cDNA for argininosuccinate synthetase and the mutation present in animals with citrullinemia. 2813370 1989
CUI: C0175683
Disease: Citrullinemia
Citrullinemia 		0.900 Biomarker disease BEFREE Structure of an abnormal messenger RNA for argininosuccinate synthetase in citrullinemia. 3570300 1987
CUI: C0175683
Disease: Citrullinemia
Citrullinemia 		0.900 Biomarker disease BEFREE Messenger RNA coding for argininosuccinate synthetase in citrullinemia. 3459354 1986
CUI: C0175683
Disease: Citrullinemia
Citrullinemia 		0.900 Biomarker disease BEFREE Abnormal mRNA for argininosuccinate synthetase in citrullinaemia. 6823333 1983
CUI: C0175683
Disease: Citrullinemia
Citrullinemia 		0.900 Biomarker disease CLINGEN Urea cycle enzymopathies. 6763345 1982
CUI: C0175683
Disease: Citrullinemia
Citrullinemia 		0.900 Biomarker disease CTD_human