FLVCR2, FLVCR heme transporter 2, 55640

N. diseases: 23; N. variants: 7
Disease: Encephaloclastic Proliferative Vasculopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1856972
Disease: Encephaloclastic Proliferative Vasculopathy
Encephaloclastic Proliferative Vasculopathy 		0.720 GeneticVariation disease BEFREE Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH, OMIM 225790), also known as Fowler syndrome, is a rare autosomal recessive disorder, caused by mutations in FLVCR2. 25677735 2016
CUI: C1856972
Disease: Encephaloclastic Proliferative Vasculopathy
Encephaloclastic Proliferative Vasculopathy 		0.720 GeneticVariation disease UNIPROT Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome). 20206334 2010
CUI: C1856972
Disease: Encephaloclastic Proliferative Vasculopathy
Encephaloclastic Proliferative Vasculopathy 		0.720 GeneticVariation disease UNIPROT High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy. 20690116 2010
CUI: C1856972
Disease: Encephaloclastic Proliferative Vasculopathy
Encephaloclastic Proliferative Vasculopathy 		0.720 GermlineCausalMutation disease ORPHANET Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome). 20206334 2010
CUI: C1856972
Disease: Encephaloclastic Proliferative Vasculopathy
Encephaloclastic Proliferative Vasculopathy 		0.720 GeneticVariation disease BEFREE Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome). 20206334 2010
CUI: C1856972
Disease: Encephaloclastic Proliferative Vasculopathy
Encephaloclastic Proliferative Vasculopathy 		0.720 GeneticVariation disease UNIPROT Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing. 20518025 2010
CUI: C1856972
Disease: Encephaloclastic Proliferative Vasculopathy
Encephaloclastic Proliferative Vasculopathy 		0.720 Biomarker disease GENOMICS_ENGLAND Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome). 20206334 2010
CUI: C1856972
Disease: Encephaloclastic Proliferative Vasculopathy
Encephaloclastic Proliferative Vasculopathy 		0.720 Biomarker disease GENOMICS_ENGLAND Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome). 20206334 2010
CUI: C1856972
Disease: Encephaloclastic Proliferative Vasculopathy
Encephaloclastic Proliferative Vasculopathy 		0.720 CausalMutation disease CLINVAR
CUI: C1856972
Disease: Encephaloclastic Proliferative Vasculopathy
Encephaloclastic Proliferative Vasculopathy 		0.720 Biomarker disease CTD_human