CPT1C, carnitine palmitoyltransferase 1C, 126129

N. diseases: 51; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204767
rs786204767
Entrez Id: 126129
Gene Symbol: CPT1C
CPT1C
CUI: C4225387
Disease:
SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia. 25751282 2015
dbSNP: rs786204767
rs786204767
Entrez Id: 126129
Gene Symbol: CPT1C
CPT1C
CUI: C4225387
Disease:
SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT 		T 0.800 CausalMutation CLINVAR
dbSNP: rs12980063
rs12980063
Entrez Id: 126129
Gene Symbol: CPT1C
CPT1C
CUI: C0004364
Disease:
Autoimmune Diseases 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs12980063
rs12980063
Entrez Id: 126129
Gene Symbol: CPT1C
CPT1C
CUI: C4310768
Disease:
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs12980063
rs12980063
Entrez Id: 126129
Gene Symbol: CPT1C
CPT1C
CUI: C3150797
Disease:
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs12980063
rs12980063
Entrez Id: 126129
Gene Symbol: CPT1C
CPT1C
CUI: C4014795
Disease:
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs12981033
rs12981033
Entrez Id: 126129
Gene Symbol: CPT1C
CPT1C
CUI: C0020676
Disease:
Hypothyroidism 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs8105199
rs8105199
Entrez Id: 126129
Gene Symbol: CPT1C
CPT1C
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs8105199
rs8105199
Entrez Id: 126129
Gene Symbol: CPT1C
CPT1C
CUI: C0428474
Disease:
Serum LDL cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs8105199
rs8105199
Entrez Id: 126129
Gene Symbol: CPT1C
CPT1C
CUI: C1445957
Disease:
Serum total cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012