FLVCR2, FLVCR heme transporter 2, 55640

N. diseases: 23; N. variants: 7
Disease: Fowler syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3203738
Disease: Fowler syndrome
Fowler syndrome 		0.360 GeneticVariation disease BEFREE The present report confirms the genetic homogeneity of Fowler syndrome and describes a new FLVCR2 mutation affecting the protein function. 29500860 2018
CUI: C3203738
Disease: Fowler syndrome
Fowler syndrome 		0.360 GeneticVariation disease BEFREE Investigation with whole-exome sequencing (WES) revealed, in both patients, a homozygous pathogenic mutation in FLVCR2, c.1289C>T, compatible with a diagnosis of Fowler syndrome. 25677735 2016
CUI: C3203738
Disease: Fowler syndrome
Fowler syndrome 		0.360 GeneticVariation disease BEFREE Mutations of SLC49A2 encoding FLVCR2 are observed in Fowler syndrome, a rare proliferative vascular disorder of the brain. 23506900 2013
CUI: C3203738
Disease: Fowler syndrome
Fowler syndrome 		0.360 GermlineCausalMutation disease ORPHANET Direct sequencing of candidate genes within the target interval revealed five different germline mutations in FLVCR2 in five families with Fowler syndrome. 20206334 2010
CUI: C3203738
Disease: Fowler syndrome
Fowler syndrome 		0.360 Biomarker disease BEFREE The Fowler syndrome-associated protein FLVCR2 is an importer of heme. 20823265 2010
CUI: C3203738
Disease: Fowler syndrome
Fowler syndrome 		0.360 GeneticVariation disease BEFREE We report novel germline mutations in feline leukemia virus subgroup C cellular-receptor-family member 2, FLVCR2, which has recently been shown to cause FS. 20518025 2010
CUI: C3203738
Disease: Fowler syndrome
Fowler syndrome 		0.360 GeneticVariation disease BEFREE Direct sequencing of candidate genes within the target interval revealed five different germline mutations in FLVCR2 in five families with Fowler syndrome. 20206334 2010