CHPT1, choline phosphotransferase 1, 56994

N. diseases: 253; N. variants: 7
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs35333334
rs35333334
Entrez Id: 56994;79158
Gene Symbol: CHPT1;GNPTAB
CHPT1;GNPTAB
CUI: C0033788
Disease:
Pseudo-Hurler Polydystrophy 		A 0.700 CausalMutation CLINVAR Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations. 27662472 2019
dbSNP: rs35333334
rs35333334
Entrez Id: 56994;79158
Gene Symbol: CHPT1;GNPTAB
CHPT1;GNPTAB
CUI: C2673377
Disease:
MUCOLIPIDOSIS II ALPHA/BETA (disorder) 		A 0.700 CausalMutation CLINVAR Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations. 27662472 2019
dbSNP: rs35333334
rs35333334
Entrez Id: 56994;79158
Gene Symbol: CHPT1;GNPTAB
CHPT1;GNPTAB
CUI: C2673377
Disease:
MUCOLIPIDOSIS II ALPHA/BETA (disorder) 		A 0.700 CausalMutation CLINVAR Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients. 19634183 2009
dbSNP: rs35333334
rs35333334
Entrez Id: 56994;79158
Gene Symbol: CHPT1;GNPTAB
CHPT1;GNPTAB
CUI: C0033788
Disease:
Pseudo-Hurler Polydystrophy 		A 0.700 CausalMutation CLINVAR Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients. 19634183 2009
dbSNP: rs35333334
rs35333334
Entrez Id: 56994;79158
Gene Symbol: CHPT1;GNPTAB
CHPT1;GNPTAB
CUI: C0033788
Disease:
Pseudo-Hurler Polydystrophy 		A 0.700 CausalMutation CLINVAR When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients. 16630736 2006
dbSNP: rs35333334
rs35333334
Entrez Id: 56994;79158
Gene Symbol: CHPT1;GNPTAB
CHPT1;GNPTAB
CUI: C0033788
Disease:
Pseudo-Hurler Polydystrophy 		A 0.700 CausalMutation CLINVAR Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha beta -subunits precursor gene. 16465621 2006
dbSNP: rs35333334
rs35333334
Entrez Id: 56994;79158
Gene Symbol: CHPT1;GNPTAB
CHPT1;GNPTAB
CUI: C2673377
Disease:
MUCOLIPIDOSIS II ALPHA/BETA (disorder) 		A 0.700 CausalMutation CLINVAR Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha beta -subunits precursor gene. 16465621 2006
dbSNP: rs35333334
rs35333334
Entrez Id: 56994;79158
Gene Symbol: CHPT1;GNPTAB
CHPT1;GNPTAB
CUI: C2673377
Disease:
MUCOLIPIDOSIS II ALPHA/BETA (disorder) 		A 0.700 CausalMutation CLINVAR When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients. 16630736 2006
dbSNP: rs35576380
rs35576380
Entrez Id: 56994;79158
Gene Symbol: CHPT1;GNPTAB
CHPT1;GNPTAB
CUI: C0026697
Disease:
Mucolipidoses 		T 0.700 CausalMutation CLINVAR Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha beta -subunits precursor gene. 16465621 2006
dbSNP: rs35333334
rs35333334
Entrez Id: 56994;79158
Gene Symbol: CHPT1;GNPTAB
CHPT1;GNPTAB
CUI: C0033788
Disease:
Pseudo-Hurler Polydystrophy 		A 0.700 CausalMutation CLINVAR Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. 16200072 2005
dbSNP: rs35333334
rs35333334
Entrez Id: 56994;79158
Gene Symbol: CHPT1;GNPTAB
CHPT1;GNPTAB
CUI: C2673377
Disease:
MUCOLIPIDOSIS II ALPHA/BETA (disorder) 		A 0.700 CausalMutation CLINVAR Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. 16200072 2005
dbSNP: rs1555267839
rs1555267839
Entrez Id: 56994;79158
Gene Symbol: CHPT1;GNPTAB
CHPT1;GNPTAB
CUI: C0033788
Disease:
Pseudo-Hurler Polydystrophy 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555267839
rs1555267839
Entrez Id: 56994;79158
Gene Symbol: CHPT1;GNPTAB
CHPT1;GNPTAB
CUI: C2673377
Disease:
MUCOLIPIDOSIS II ALPHA/BETA (disorder) 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs281865022
rs281865022
Entrez Id: 56994;79158
Gene Symbol: CHPT1;GNPTAB
CHPT1;GNPTAB
CUI: C0033788
Disease:
Pseudo-Hurler Polydystrophy 		C 0.700 CausalMutation CLINVAR
dbSNP: rs281865022
rs281865022
Entrez Id: 56994;79158
Gene Symbol: CHPT1;GNPTAB
CHPT1;GNPTAB
CUI: C2673377
Disease:
MUCOLIPIDOSIS II ALPHA/BETA (disorder) 		C 0.700 CausalMutation CLINVAR
dbSNP: rs587776620
rs587776620
Entrez Id: 50511;56994
Gene Symbol: SYCP3;CHPT1
SYCP3;CHPT1
CUI: C0232981
Disease:
Arrest of spermatogenesis 		C 0.700 CausalMutation CLINVAR
dbSNP: rs769825641
rs769825641
Entrez Id: 50511;56994
Gene Symbol: SYCP3;CHPT1
SYCP3;CHPT1
CUI: C0232981
Disease:
Arrest of spermatogenesis 		G 0.700 CausalMutation CLINVAR
dbSNP: rs778035915
rs778035915
Entrez Id: 56994
Gene Symbol: CHPT1
CHPT1
CUI: C0524620
Disease:
Metabolic Syndrome X 		0.010 GeneticVariation BEFREE The present results confirm the association of CPT1b coding polymorphisms with the MetS, with a deleterious effect of the CPT1b I66V and a protective impact of the CPT1b K531E SNP, whereas haplotype analysis indicates a relevance of the E531K polymorphism only. 22809552 2013
dbSNP: rs769825641
rs769825641
Entrez Id: 50511;56994
Gene Symbol: SYCP3;CHPT1
SYCP3;CHPT1
CUI: C4552766
Disease:
Miscarriage 		0.010 GeneticVariation BEFREE The 657T>C mutation of SYCP3 may not be associated with recurrent miscarriage caused by aneuploidy. 21357605 2011