Disease: GRACILE SYNDROME (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553598145
rs1553598145
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C1864002
Disease:
GRACILE SYNDROME (disorder) 		A 0.700 GeneticVariation CLINVAR Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. 26489029 2016
dbSNP: rs1553598145
rs1553598145
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C1864002
Disease:
GRACILE SYNDROME (disorder) 		A 0.700 GeneticVariation CLINVAR A case of Björnstad syndrome caused by novel compound heterozygous mutations in the BCS1L gene. 24236502 2014