SDS, serine dehydratase, 10993

N. diseases: 138; N. variants: 7
Source: BEFREE ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs375713569
rs375713569
Entrez Id: 10993
Gene Symbol: SDS
SDS
CUI: C1858679
Disease:
CATARACT, AUTOSOMAL DOMINANT 		0.020 GeneticVariation BEFREE The G98R mutation in αA-crystallin is associated with autosomal dominant cataract in humans. 21224997 2011
dbSNP: rs375713569
rs375713569
Entrez Id: 10993
Gene Symbol: SDS
SDS
CUI: C1858679
Disease:
CATARACT, AUTOSOMAL DOMINANT 		0.020 GeneticVariation BEFREE The G98R mutation in human alphaA-crystallin is associated with autosomal dominant cataract (presenile type). 18199971 2007
dbSNP: rs373115603
rs373115603
Entrez Id: 10993
Gene Symbol: SDS
SDS
CUI: C0020459
Disease:
Hyperinsulinism 		0.010 GeneticVariation BEFREE A novel mutation in IGFALS, c.380T>C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor-1 (IGF1). 23488611 2013
dbSNP: rs1020608187
rs1020608187
Entrez Id: 10993
Gene Symbol: SDS
SDS
CUI: C0023452
Disease:
Childhood Acute Lymphoblastic Leukemia 		0.010 GeneticVariation BEFREE The MTHFR 677C>T SNP and the MTRR 66A >G SNP were identified as determinants of impaired BMD(TB) in childhood ALL patients. 20955826 2011
dbSNP: rs371872753
rs371872753
Entrez Id: 10993
Gene Symbol: SDS
SDS
CUI: C0342538
Disease:
Constitutional delay of growth and puberty 		0.010 GeneticVariation BEFREE Five different heterozygous point variations in GHSR were identified (c.-6 G>C, c.251G>T (p.Ser84Ile), c.505G>A (p.Ala169Thr), c.545 T>C (p.Val182Ala), and c.1072G>A (p.Ala358Thr)), all in patients with CDGP. 21646290 2011
dbSNP: rs201078173
rs201078173
Entrez Id: 10993
Gene Symbol: SDS
SDS
CUI: C3825201
Disease:
Mitochondrial pathology 		0.010 GeneticVariation BEFREE G93A SOD1 transgenic mice overexpressing CCS protein develop an accelerated disease course that is associated with enhanced mitochondrial pathology and increased mitochondrial localization of mutant SOD1. 18334481 2008
dbSNP: rs201078173
rs201078173
Entrez Id: 10993
Gene Symbol: SDS
SDS
CUI: C0268237
Disease:
Cytochrome-c Oxidase Deficiency 		0.010 GeneticVariation BEFREE In contrast, CCS/G93A SOD1 mouse spinal cord showed no reduction in levels of selected subunits from complexes I, II, III, or V. Heme A analyses of spinal cord further support the existence of cytochrome c oxidase deficiency in CCS/G93A SOD1 mice. 18334481 2008
dbSNP: rs201078173
rs201078173
Entrez Id: 10993
Gene Symbol: SDS
SDS
CUI: C0162670
Disease:
Mitochondrial Myopathies 		0.010 GeneticVariation BEFREE Collectively, these results establish that CCS/G93A SOD1 mice manifest an isolated complex IV deficiency which may underlie a substantial part of mutant SOD1-induced mitochondrial cytopathy. 18334481 2008
dbSNP: rs201078173
rs201078173
Entrez Id: 10993
Gene Symbol: SDS
SDS
CUI: C2931928
Disease:
Mitochondrial cytopathy 		0.010 GeneticVariation BEFREE Collectively, these results establish that CCS/G93A SOD1 mice manifest an isolated complex IV deficiency which may underlie a substantial part of mutant SOD1-induced mitochondrial cytopathy. 18334481 2008
dbSNP: rs375713569
rs375713569
Entrez Id: 10993
Gene Symbol: SDS
SDS
CUI: C0086543
Disease:
Cataract 		0.010 GeneticVariation BEFREE The accumulation of mutant protein-substrate complexes may be the reason for cataract development in individuals carrying the G98R mutation in alphaA-crystallin. 18199971 2007
dbSNP: rs755233297
rs755233297
Entrez Id: 10993
Gene Symbol: SDS
SDS
CUI: C0035334
Disease:
Retinitis Pigmentosa 		0.010 GeneticVariation BEFREE E150K is the first reported missense mutation associated with arRP. 16737970 2006
dbSNP: rs755233297
rs755233297
Entrez Id: 10993
Gene Symbol: SDS
SDS
CUI: C0339526
Disease:
Autosomal recessive retinitis pigmentosa 		0.010 GeneticVariation BEFREE Autosomal recessive retinitis pigmentosa and E150K mutation in the opsin gene. 16737970 2006
dbSNP: rs950561906
rs950561906
Entrez Id: 10993
Gene Symbol: SDS
SDS
CUI: C0011847
Disease:
Diabetes 		0.010 GeneticVariation BEFREE Among human adiponectin mutations, G84R and G90S mutants, which are associated with diabetes and hypoadiponectinemia, did not form HMW multimers. 12878598 2003
dbSNP: rs950561906
rs950561906
Entrez Id: 10993
Gene Symbol: SDS
SDS
CUI: C2675519
Disease:
Hypoadiponectinemia 		0.010 GeneticVariation BEFREE Among human adiponectin mutations, G84R and G90S mutants, which are associated with diabetes and hypoadiponectinemia, did not form HMW multimers. 12878598 2003
dbSNP: rs950561906
rs950561906
Entrez Id: 10993
Gene Symbol: SDS
SDS
CUI: C0011849
Disease:
Diabetes Mellitus 		0.010 GeneticVariation BEFREE Among human adiponectin mutations, G84R and G90S mutants, which are associated with diabetes and hypoadiponectinemia, did not form HMW multimers. 12878598 2003