HLCS, holocarboxylase synthetase, 3141

N. diseases: 63; N. variants: 41
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12481910
rs12481910
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs111610752
rs111610752
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0007766
Disease:
Intracranial Aneurysm 		0.700 GeneticVariation GWASCAT Genome-wide association analysis identifies new candidate risk loci for familial intracranial aneurysm in the French-Canadian population. 29531279 2018
dbSNP: rs146448211
rs146448211
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0268581
Disease:
Holocarboxylase Synthetase Deficiency 		A 0.700 GeneticVariation CLINVAR Holocarboxylase synthetase deficiency pre and post newborn screening. 27114915 2016
dbSNP: rs753887925
rs753887925
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0268581
Disease:
Holocarboxylase Synthetase Deficiency 		T 0.700 CausalMutation CLINVAR Holocarboxylase synthetase deficiency pre and post newborn screening. 27114915 2016
dbSNP: rs753887925
rs753887925
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0268581
Disease:
Holocarboxylase Synthetase Deficiency 		T 0.700 GeneticVariation CLINVAR Holocarboxylase synthetase deficiency pre and post newborn screening. 27114915 2016
dbSNP: rs772791252
rs772791252
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0268581
Disease:
Holocarboxylase Synthetase Deficiency 		A 0.700 CausalMutation CLINVAR Holocarboxylase synthetase deficiency pre and post newborn screening. 27114915 2016
dbSNP: rs3787751
rs3787751
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0454651
Disease:
Specific language impairment 		C 0.700 GeneticVariation GWASCAT Genome-Wide Association and Exome Sequencing Study of Language Disorder in an Isolated Population. 27016271 2016
dbSNP: rs1057516035
rs1057516035
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0268581
Disease:
Holocarboxylase Synthetase Deficiency 		G 0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
dbSNP: rs1057516035
rs1057516035
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C1839436
Disease:
Severe lactic acidosis 		G 0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
dbSNP: rs119103227
rs119103227
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0268581
Disease:
Holocarboxylase Synthetase Deficiency 		0.800 GeneticVariation UNIPROT Severe neonatal holocarboxylase synthetase deficiency in west african siblings. 25690727 2015
dbSNP: rs119103228
rs119103228
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0268581
Disease:
Holocarboxylase Synthetase Deficiency 		0.800 GeneticVariation UNIPROT Severe neonatal holocarboxylase synthetase deficiency in west african siblings. 25690727 2015
dbSNP: rs119103229
rs119103229
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0268581
Disease:
Holocarboxylase Synthetase Deficiency 		0.800 GeneticVariation UNIPROT Severe neonatal holocarboxylase synthetase deficiency in west african siblings. 25690727 2015
dbSNP: rs28934602
rs28934602
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0268581
Disease:
Holocarboxylase Synthetase Deficiency 		0.800 GeneticVariation UNIPROT Severe neonatal holocarboxylase synthetase deficiency in west african siblings. 25690727 2015
dbSNP: rs769499327
rs769499327
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0268581
Disease:
Holocarboxylase Synthetase Deficiency 		0.800 GeneticVariation UNIPROT Severe neonatal holocarboxylase synthetase deficiency in west african siblings. 25690727 2015
dbSNP: rs1198548955
rs1198548955
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0268581
Disease:
Holocarboxylase Synthetase Deficiency 		0.700 GeneticVariation UNIPROT Severe neonatal holocarboxylase synthetase deficiency in west african siblings. 25690727 2015
dbSNP: rs1230666123
rs1230666123
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0268581
Disease:
Holocarboxylase Synthetase Deficiency 		0.700 GeneticVariation UNIPROT Severe neonatal holocarboxylase synthetase deficiency in west african siblings. 25690727 2015
dbSNP: rs1555885056
rs1555885056
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0268581
Disease:
Holocarboxylase Synthetase Deficiency 		0.700 GeneticVariation UNIPROT Severe neonatal holocarboxylase synthetase deficiency in west african siblings. 25690727 2015
dbSNP: rs771944310
rs771944310
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0268581
Disease:
Holocarboxylase Synthetase Deficiency 		A 0.700 CausalMutation CLINVAR Severe neonatal holocarboxylase synthetase deficiency in west african siblings. 25690727 2015
dbSNP: rs781603756
rs781603756
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0268581
Disease:
Holocarboxylase Synthetase Deficiency 		0.700 GeneticVariation UNIPROT Severe neonatal holocarboxylase synthetase deficiency in west african siblings. 25690727 2015
dbSNP: rs146448211
rs146448211
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0268581
Disease:
Holocarboxylase Synthetase Deficiency 		A 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs772791252
rs772791252
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0268581
Disease:
Holocarboxylase Synthetase Deficiency 		A 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs146448211
rs146448211
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0268581
Disease:
Holocarboxylase Synthetase Deficiency 		A 0.700 GeneticVariation CLINVAR Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. 25087612 2014
dbSNP: rs1035549573
rs1035549573
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0039743
Disease:
Thanatophoric Dysplasia 		0.010 GeneticVariation BEFREE Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cells that were infected with lentivirus expressing constitutively active mutants of FGFR3-K650E causing thanatophoric dysplasia, FGFR3-K650M causing SADDAN, and FGFR3-G380R causing ACH. 24324705 2013
dbSNP: rs1035549573
rs1035549573
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C0008479
Disease:
Chondrosarcoma 		0.010 GeneticVariation BEFREE Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cells that were infected with lentivirus expressing constitutively active mutants of FGFR3-K650E causing thanatophoric dysplasia, FGFR3-K650M causing SADDAN, and FGFR3-G380R causing ACH. 24324705 2013
dbSNP: rs1035549573
rs1035549573
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
CUI: C1868678
Disease:
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.010 GeneticVariation BEFREE Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cells that were infected with lentivirus expressing constitutively active mutants of FGFR3-K650E causing thanatophoric dysplasia, FGFR3-K650M causing SADDAN, and FGFR3-G380R causing ACH. 24324705 2013