LDHB, lactate dehydrogenase B, 3945

N. diseases: 74; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118203895
rs118203895
Entrez Id: 3945
Gene Symbol: LDHB
LDHB
CUI: C3279904
Disease:
Lactate Dehydrogenase B Deficiency
0.800 GeneticVariation UNIPROT A novel missense mutation in human lactate dehydrogenase B-subunit gene. 11509017 2001
dbSNP: rs118203896
rs118203896
Entrez Id: 3945
Gene Symbol: LDHB
LDHB
CUI: C3279904
Disease:
Lactate Dehydrogenase B Deficiency
0.800 GeneticVariation UNIPROT A novel missense mutation in human lactate dehydrogenase B-subunit gene. 11509017 2001
dbSNP: rs118203897
rs118203897
Entrez Id: 3945
Gene Symbol: LDHB
LDHB
CUI: C3279904
Disease:
Lactate Dehydrogenase B Deficiency
0.800 GeneticVariation UNIPROT A novel missense mutation in human lactate dehydrogenase B-subunit gene. 11509017 2001
dbSNP: rs267607212
rs267607212
Entrez Id: 3945
Gene Symbol: LDHB
LDHB
CUI: C3279904
Disease:
Lactate Dehydrogenase B Deficiency
0.800 GeneticVariation UNIPROT A novel missense mutation in human lactate dehydrogenase B-subunit gene. 11509017 2001
dbSNP: rs118203895
rs118203895
Entrez Id: 3945
Gene Symbol: LDHB
LDHB
CUI: C3279904
Disease:
Lactate Dehydrogenase B Deficiency
0.800 GeneticVariation UNIPROT First case of missense mutation (LDH-H:R171P) in exon 4 of the lactate dehydrogenase gene detected in a Japanese patient. 9929983 1999
dbSNP: rs118203895
rs118203895
Entrez Id: 3945
Gene Symbol: LDHB
LDHB
CUI: C3279904
Disease:
Lactate Dehydrogenase B Deficiency
0.800 GeneticVariation UNIPROT A novel in-frame deletion mutation in a case of lactate dehydrogenase (LD) H subunit deficiency showing an atypical LD isoenzyme pattern in serum and erythrocytes. 10211631 1999
dbSNP: rs118203896
rs118203896
Entrez Id: 3945
Gene Symbol: LDHB
LDHB
CUI: C3279904
Disease:
Lactate Dehydrogenase B Deficiency
0.800 GeneticVariation UNIPROT First case of missense mutation (LDH-H:R171P) in exon 4 of the lactate dehydrogenase gene detected in a Japanese patient. 9929983 1999
dbSNP: rs118203896
rs118203896
Entrez Id: 3945
Gene Symbol: LDHB
LDHB
CUI: C3279904
Disease:
Lactate Dehydrogenase B Deficiency
0.800 GeneticVariation UNIPROT A novel in-frame deletion mutation in a case of lactate dehydrogenase (LD) H subunit deficiency showing an atypical LD isoenzyme pattern in serum and erythrocytes. 10211631 1999
dbSNP: rs118203897
rs118203897
Entrez Id: 3945
Gene Symbol: LDHB
LDHB
CUI: C3279904
Disease:
Lactate Dehydrogenase B Deficiency
0.800 GeneticVariation UNIPROT First case of missense mutation (LDH-H:R171P) in exon 4 of the lactate dehydrogenase gene detected in a Japanese patient. 9929983 1999
dbSNP: rs118203897
rs118203897
Entrez Id: 3945
Gene Symbol: LDHB
LDHB
CUI: C3279904
Disease:
Lactate Dehydrogenase B Deficiency
0.800 GeneticVariation UNIPROT A novel in-frame deletion mutation in a case of lactate dehydrogenase (LD) H subunit deficiency showing an atypical LD isoenzyme pattern in serum and erythrocytes. 10211631 1999
dbSNP: rs267607212
rs267607212
Entrez Id: 3945
Gene Symbol: LDHB
LDHB
CUI: C3279904
Disease:
Lactate Dehydrogenase B Deficiency
0.800 GeneticVariation UNIPROT First case of missense mutation (LDH-H:R171P) in exon 4 of the lactate dehydrogenase gene detected in a Japanese patient. 9929983 1999
dbSNP: rs267607212
rs267607212
Entrez Id: 3945
Gene Symbol: LDHB
LDHB
CUI: C3279904
Disease:
Lactate Dehydrogenase B Deficiency
0.800 GeneticVariation UNIPROT A novel in-frame deletion mutation in a case of lactate dehydrogenase (LD) H subunit deficiency showing an atypical LD isoenzyme pattern in serum and erythrocytes. 10211631 1999
dbSNP: rs118203895
rs118203895
Entrez Id: 3945
Gene Symbol: LDHB
LDHB
CUI: C3279904
Disease:
Lactate Dehydrogenase B Deficiency
0.800 GeneticVariation UNIPROT Arginine to tryptophan substitution in the active site of a human lactate dehydrogenase variant--LDHB GUA1: postulated effects on subunit structure and catalysis. 8611651 1996
dbSNP: rs118203896
rs118203896
Entrez Id: 3945
Gene Symbol: LDHB
LDHB
CUI: C3279904
Disease:
Lactate Dehydrogenase B Deficiency
0.800 GeneticVariation UNIPROT Arginine to tryptophan substitution in the active site of a human lactate dehydrogenase variant--LDHB GUA1: postulated effects on subunit structure and catalysis. 8611651 1996
dbSNP: rs118203897
rs118203897
Entrez Id: 3945
Gene Symbol: LDHB
LDHB
CUI: C3279904
Disease:
Lactate Dehydrogenase B Deficiency
0.800 GeneticVariation UNIPROT Arginine to tryptophan substitution in the active site of a human lactate dehydrogenase variant--LDHB GUA1: postulated effects on subunit structure and catalysis. 8611651 1996
dbSNP: rs267607212
rs267607212
Entrez Id: 3945
Gene Symbol: LDHB
LDHB
CUI: C3279904
Disease:
Lactate Dehydrogenase B Deficiency
0.800 GeneticVariation UNIPROT Arginine to tryptophan substitution in the active site of a human lactate dehydrogenase variant--LDHB GUA1: postulated effects on subunit structure and catalysis. 8611651 1996
dbSNP: rs118203895
rs118203895
Entrez Id: 3945
Gene Symbol: LDHB
LDHB
CUI: C3279904
Disease:
Lactate Dehydrogenase B Deficiency
0.800 GeneticVariation UNIPROT Analysis of a genetic mutation in an electrophoretic variant of the human lactate dehydrogenase-B(H) subunit. 8314553 1993
dbSNP: rs118203895
rs118203895
Entrez Id: 3945
Gene Symbol: LDHB
LDHB
CUI: C3279904
Disease:
Lactate Dehydrogenase B Deficiency
0.800 GeneticVariation UNIPROT Detection and characterization of new genetic mutations in individuals heterozygous for lactate dehydrogenase-B(H) deficiency using DNA conformation polymorphism analysis and silver staining. 8462975 1993
dbSNP: rs118203896
rs118203896
Entrez Id: 3945
Gene Symbol: LDHB
LDHB
CUI: C3279904
Disease:
Lactate Dehydrogenase B Deficiency
0.800 GeneticVariation UNIPROT Analysis of a genetic mutation in an electrophoretic variant of the human lactate dehydrogenase-B(H) subunit. 8314553 1993
dbSNP: rs118203896
rs118203896
Entrez Id: 3945
Gene Symbol: LDHB
LDHB
CUI: C3279904
Disease:
Lactate Dehydrogenase B Deficiency
0.800 GeneticVariation UNIPROT Detection and characterization of new genetic mutations in individuals heterozygous for lactate dehydrogenase-B(H) deficiency using DNA conformation polymorphism analysis and silver staining. 8462975 1993
dbSNP: rs118203897
rs118203897
Entrez Id: 3945
Gene Symbol: LDHB
LDHB
CUI: C3279904
Disease:
Lactate Dehydrogenase B Deficiency
0.800 GeneticVariation UNIPROT Detection and characterization of new genetic mutations in individuals heterozygous for lactate dehydrogenase-B(H) deficiency using DNA conformation polymorphism analysis and silver staining. 8462975 1993
dbSNP: rs118203897
rs118203897
Entrez Id: 3945
Gene Symbol: LDHB
LDHB
CUI: C3279904
Disease:
Lactate Dehydrogenase B Deficiency
0.800 GeneticVariation UNIPROT Analysis of a genetic mutation in an electrophoretic variant of the human lactate dehydrogenase-B(H) subunit. 8314553 1993
dbSNP: rs267607212
rs267607212
Entrez Id: 3945
Gene Symbol: LDHB
LDHB
CUI: C3279904
Disease:
Lactate Dehydrogenase B Deficiency
0.800 GeneticVariation UNIPROT Analysis of a genetic mutation in an electrophoretic variant of the human lactate dehydrogenase-B(H) subunit. 8314553 1993
dbSNP: rs267607212
rs267607212
Entrez Id: 3945
Gene Symbol: LDHB
LDHB
CUI: C3279904
Disease:
Lactate Dehydrogenase B Deficiency
0.800 GeneticVariation UNIPROT Detection and characterization of new genetic mutations in individuals heterozygous for lactate dehydrogenase-B(H) deficiency using DNA conformation polymorphism analysis and silver staining. 8462975 1993
dbSNP: rs118203895
rs118203895
Entrez Id: 3945
Gene Symbol: LDHB
LDHB
CUI: C3279904
Disease:
Lactate Dehydrogenase B Deficiency
0.800 GeneticVariation UNIPROT Molecular characterization of genetic mutations in human lactate dehydrogenase (LDH) B (H) variant. 1587525 1992