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: rs121908572
rs121908572
Entrez Id: 617;7701
Gene Symbol: BCS1L;ZNF142
BCS1L;ZNF142
CUI: C1864002
Disease:
GRACILE SYNDROME (disorder) 		0.710 GeneticVariation BEFREE Here we report that a homozygous mutation c.296C > T (p.P99L), in the first exon of BCS1L gene found in an affected 2-month-old boy of asymptomatic consanguineous parents results in GRACILE syndrome. 24655110 2014
dbSNP: rs121908572
rs121908572
Entrez Id: 617;7701
Gene Symbol: BCS1L;ZNF142
BCS1L;ZNF142
CUI: C1864002
Disease:
GRACILE SYNDROME (disorder) 		T 0.710 GeneticVariation CLINVAR Here we report that a homozygous mutation c.296C > T (p.P99L), in the first exon of BCS1L gene found in an affected 2-month-old boy of asymptomatic consanguineous parents results in GRACILE syndrome. 24655110 2014
dbSNP: rs121908572
rs121908572
Entrez Id: 617;7701
Gene Symbol: BCS1L;ZNF142
BCS1L;ZNF142
CUI: C1864002
Disease:
GRACILE SYNDROME (disorder) 		T 0.710 GeneticVariation CLINVAR Severe renal tubulopathy in a newborn due to BCS1L gene mutation: effects of different treatment modalities on the clinical course. 23892085 2013
dbSNP: rs121908572
rs121908572
Entrez Id: 617;7701
Gene Symbol: BCS1L;ZNF142
BCS1L;ZNF142
CUI: C1864002
Disease:
GRACILE SYNDROME (disorder) 		T 0.710 GeneticVariation CLINVAR Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. 17314340 2007
dbSNP: rs121908572
rs121908572
Entrez Id: 617;7701
Gene Symbol: BCS1L;ZNF142
BCS1L;ZNF142
CUI: C1864002
Disease:
GRACILE SYNDROME (disorder) 		T 0.710 GeneticVariation CLINVAR A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. 11528392 2001