Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.150 GeneticVariation disease BEFREE Homozygosity or compound heterozygosity for the c.833T>C transition (p.I278 T) in the cystathionine beta-synthase (CBS) gene represents the most common cause of pyridoxine-responsive homocystinuria in Western Eurasians. 17072863 2007
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.150 Biomarker disease BEFREE Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient. 8755636 1996
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.150 GeneticVariation disease BEFREE A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype. 7611293 1995
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.150 GeneticVariation disease BEFREE We determined the molecular basis of cystathionine beta-synthase (CBS) deficiency in three siblings with pyridoxine responsive homocystinuria using a significantly improved mutation screening method in bacteria. 7981678 1994
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.150 Biomarker disease BEFREE Affinity of cystathionine beta-synthase for pyridoxal 5'-phosphate in cultured cells. A mechanism for pyridoxine-responsive homocystinuria. 7400312 1980
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.150 CausalMutation disease CLINVAR
Entrez Id: 102724560
Gene Symbol: CBSL
CBSL 		0.050 GeneticVariation disease BEFREE Homozygosity or compound heterozygosity for the c.833T>C transition (p.I278 T) in the cystathionine beta-synthase (CBS) gene represents the most common cause of pyridoxine-responsive homocystinuria in Western Eurasians. 17072863 2007
Entrez Id: 102724560
Gene Symbol: CBSL
CBSL 		0.050 Biomarker disease BEFREE Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient. 8755636 1996
Entrez Id: 102724560
Gene Symbol: CBSL
CBSL 		0.050 GeneticVariation disease BEFREE A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype. 7611293 1995
Entrez Id: 102724560
Gene Symbol: CBSL
CBSL 		0.050 GeneticVariation disease BEFREE We determined the molecular basis of cystathionine beta-synthase (CBS) deficiency in three siblings with pyridoxine responsive homocystinuria using a significantly improved mutation screening method in bacteria. 7981678 1994
Entrez Id: 102724560
Gene Symbol: CBSL
CBSL 		0.050 Biomarker disease BEFREE Affinity of cystathionine beta-synthase for pyridoxal 5'-phosphate in cultured cells. A mechanism for pyridoxine-responsive homocystinuria. 7400312 1980