SLC25A20, solute carrier family 25 member 20, 788

N. diseases: 130; N. variants: 18
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs7623023
rs7623023
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0009402
Disease:
Colorectal Carcinoma 		0.010 GeneticVariation BEFREE Statistically significant interactions were found between intake of red and processed meat and <i>CCAT2</i> rs6983267, <i>TP53</i> rs1042522, <i>LPCAT1</i> rs7737692, <i>SLC25A20</i> rs7623023 (<i>p</i><sub>interaction</sub> = 0.04, 0.04, 0.02, 0.03, respectively), and the use of NSAID and alcohol intake and <i>TP53</i> rs1042522 (<i>p</i><sub>interaction</sub> = 0.04, 0.04, respectively) in relation to the risk of CRC. 30841568 2019
dbSNP: rs745490594
rs745490594
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		0.010 GeneticVariation BEFREE Carnitine-acylcarnitine translocase deficiency with c.199-10 T>G and novel c.1A>G mutation: Two case reports and brief literature review. 29137068 2017
dbSNP: rs746361528
rs746361528
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0410257
Disease:
Traumatic rhabdomyolysis 		0.010 GeneticVariation BEFREE We also found that one patient with non-traumatic rhabdomyolysis and one healthy individual were heterozygous for c.804delG and the synonymous mutation c.516T>C, respectively. 24088670 2013
dbSNP: rs541208710
rs541208710
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		C 0.700 CausalMutation CLINVAR SSIEM 2015 Annual Symposium : Lyon, France, August 2015. 26238931 2015
dbSNP: rs541208710
rs541208710
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		C 0.700 CausalMutation CLINVAR Carnitine-acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response. 25459972 2015
dbSNP: rs541208710
rs541208710
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		C 0.700 CausalMutation CLINVAR Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS. 27066551 2015
dbSNP: rs757552268
rs757552268
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		A 0.700 CausalMutation CLINVAR Carnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literature. 25614308 2015
dbSNP: rs778220325
rs778220325
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		A 0.700 CausalMutation CLINVAR Carnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literature. 25614308 2015
dbSNP: rs541208710
rs541208710
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		C 0.700 CausalMutation CLINVAR Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals. 24088670 2013
dbSNP: rs541208710
rs541208710
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		C 0.700 CausalMutation CLINVAR Carnitine-acylcarnitine translocase deficiency in three neonates presenting with rapid deterioration and cardiac arrest. 17277394 2007
dbSNP: rs757552268
rs757552268
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		A 0.700 CausalMutation CLINVAR A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency. 16919490 2006
dbSNP: rs577331691
rs577331691
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		0.700 GeneticVariation UNIPROT Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency. 15365988 2004
dbSNP: rs577331691
rs577331691
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		0.700 GeneticVariation UNIPROT Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation. 15057979 2004
dbSNP: rs541208710
rs541208710
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		C 0.700 CausalMutation CLINVAR Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency. 12559850 2003
dbSNP: rs577331691
rs577331691
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		0.700 GeneticVariation UNIPROT A novel molecular defect of the carnitine acylcarnitine translocase gene in a Saudi patient. 12859414 2003
dbSNP: rs778220325
rs778220325
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		A 0.700 CausalMutation CLINVAR Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency. 12559850 2003
dbSNP: rs541208710
rs541208710
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		C 0.700 CausalMutation CLINVAR Aberrant mRNA splicing associated with coding region mutations in children with carnitine-acylcarnitine translocase deficiency. 11592821 2001
dbSNP: rs757552268
rs757552268
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		A 0.700 CausalMutation CLINVAR Aberrant mRNA splicing associated with coding region mutations in children with carnitine-acylcarnitine translocase deficiency. 11592821 2001
dbSNP: rs757552268
rs757552268
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		A 0.700 CausalMutation CLINVAR Carnitine/acylcarnitine translocase deficiency (neonatal phenotype): successful prenatal and postmortem diagnosis associated with a novel mutation in a single family. 11350184 2001
dbSNP: rs541208710
rs541208710
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		C 0.700 CausalMutation CLINVAR Identification of two novel mutations of the carnitine/acylcarnitine translocase (CACT) gene in a patient with CACT deficiency. 10697964 2000
dbSNP: rs151340616
rs151340616
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1553684897
rs1553684897
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		TA 0.700 CausalMutation CLINVAR
dbSNP: rs1553686314
rs1553686314
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1553686321
rs1553686321
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		A 0.700 CausalMutation CLINVAR
dbSNP: rs587776759
rs587776759
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		TG 0.700 CausalMutation CLINVAR