Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8468
Gene Symbol: FKBP6
FKBP6
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.320 Biomarker BEFREE The MLPA kit (SALSA P029) contains probes for eight genes in the WS critical region: FKBP6, FZD9, TBL2, STX1A, ELN, LIMK1, RFC2, and CYLN2. 17949295

2007
Entrez Id: 8468
Gene Symbol: FKBP6
FKBP6
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.320 Biomarker GENOMICS_ENGLAND Homozygous Fkbp6 -/- male mice are infertile and our data suggests that haploinsufficiency for FKBP6 does not appear to preclude male fertility in WBS, although male infertility involving this gene has the potential to follow the mouse model as a human autosomal recessive condition. 15770126

2005
Entrez Id: 8468
Gene Symbol: FKBP6
FKBP6
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.320 GeneticVariation BEFREE Here we identify and characterize a novel gene, FKBP6, within the common WS deletion region. 9782077

1998