SLC46A1, solute carrier family 46 member 1, 113235

N. diseases: 97; N. variants: 20
Disease: Hemifacial microsomia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281875208
rs281875208
Entrez Id: 113235
Gene Symbol: SLC46A1
SLC46A1
CUI: C3495417
Disease:
Hemifacial microsomia 		0.020 GeneticVariation BEFREE This paper characterizes the functional defect, and the roles of two mutated PCFT residues, associated with HFM (G338R and A335D). 22843796 2012
dbSNP: rs281875208
rs281875208
Entrez Id: 113235
Gene Symbol: SLC46A1
SLC46A1
CUI: C3495417
Disease:
Hemifacial microsomia 		0.020 GeneticVariation BEFREE In this report, novel mutations are described in three subjects with HFM: A335D/N68Kfs (c.1004C>A/c.204-205delCC), compound heterozygous mutations, and two homozygous PCFT mutations, G338R (c.1012G>C) and E9Gfs (c.17-18insC). 21333572 2011
dbSNP: rs281875209
rs281875209
Entrez Id: 113235
Gene Symbol: SLC46A1
SLC46A1
CUI: C3495417
Disease:
Hemifacial microsomia 		0.010 GeneticVariation BEFREE This paper characterizes the functional defect, and the roles of two mutated PCFT residues, associated with HFM (G338R and A335D). 22843796 2012
dbSNP: rs80338774
rs80338774
Entrez Id: 23098;113235
Gene Symbol: SARM1;SLC46A1
SARM1;SLC46A1
CUI: C3495417
Disease:
Hemifacial microsomia 		0.010 GeneticVariation BEFREE This study defines the basis for the functional changes due to a P425R mutation detected in a subject with HFM. 22345511 2012
dbSNP: rs281875211
rs281875211
Entrez Id: 23098;113235
Gene Symbol: SARM1;SLC46A1
SARM1;SLC46A1
CUI: C3495417
Disease:
Hemifacial microsomia 		0.010 GeneticVariation BEFREE This report characterizes properties and requirements of the R376 residue in PCFT function, including a R376Q mutant associated with HFM. 20686069 2010
dbSNP: rs80338770
rs80338770
Entrez Id: 113235
Gene Symbol: SLC46A1
SLC46A1
CUI: C3495417
Disease:
Hemifacial microsomia 		0.010 GeneticVariation BEFREE Hereditary folate malabsorption (HFM) patients harbor inactivating mutations including R113S in the proton-coupled folate transporter (PCFT), an intestinal folate transporter with optimal activity at acidic pH. 18559978 2008