Gene: TSPYL1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7259
Gene Symbol: TSPYL1
TSPYL1 		0.630 GeneticVariation disease BEFREE Notably, the mutation c.457dupG (p.Glu153Glyfs*17) in the TSPYL1 gene has been reported to cause autosomal recessive sudden infant death with dysgenesis of the testes syndrome (SIDDT) in an Old Order Amish community in Pennsylvania. 25449952 2015
Entrez Id: 7259
Gene Symbol: TSPYL1
TSPYL1 		0.630 Biomarker disease GENOMICS_ENGLAND Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility. 19463995 2009
Entrez Id: 7259
Gene Symbol: TSPYL1
TSPYL1 		0.630 GeneticVariation disease BEFREE Because SIDDT is the result of homozygous TSPYL1 mutations, this heterozygous exchange cannot solely explain the sudden death in this child. 16418600 2006
Entrez Id: 7259
Gene Symbol: TSPYL1
TSPYL1 		0.630 GermlineCausalMutation disease ORPHANET Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function. 15273283 2004
Entrez Id: 7259
Gene Symbol: TSPYL1
TSPYL1 		0.630 GeneticVariation disease BEFREE Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function. 15273283 2004
Entrez Id: 7259
Gene Symbol: TSPYL1
TSPYL1 		0.630 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 7259
Gene Symbol: TSPYL1
TSPYL1 		0.630 Biomarker disease CTD_human