TSPYL1, TSPY like 1, 7259

N. diseases: 42; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1837371
Disease: Sudden Infant Death with Dysgenesis of the Testes Syndrome
Sudden Infant Death with Dysgenesis of the Testes Syndrome 		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
CUI: C1837371
Disease: Sudden Infant Death with Dysgenesis of the Testes Syndrome
Sudden Infant Death with Dysgenesis of the Testes Syndrome 		0.630 Biomarker disease GENOMICS_ENGLAND Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility. 19463995 2009
CUI: C1837371
Disease: Sudden Infant Death with Dysgenesis of the Testes Syndrome
Sudden Infant Death with Dysgenesis of the Testes Syndrome 		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
CUI: C1837371
Disease: Sudden Infant Death with Dysgenesis of the Testes Syndrome
Sudden Infant Death with Dysgenesis of the Testes Syndrome 		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
CUI: C1837371
Disease: Sudden Infant Death with Dysgenesis of the Testes Syndrome
Sudden Infant Death with Dysgenesis of the Testes Syndrome 		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
CUI: C1837371
Disease: Sudden Infant Death with Dysgenesis of the Testes Syndrome
Sudden Infant Death with Dysgenesis of the Testes Syndrome 		0.630 Biomarker disease GENOMICS_ENGLAND
CUI: C1837371
Disease: Sudden Infant Death with Dysgenesis of the Testes Syndrome
Sudden Infant Death with Dysgenesis of the Testes Syndrome 		0.630 Biomarker disease CTD_human
CUI: C0003578
Disease: Apnea
Apnea 		0.100 Biomarker phenotype HPO
CUI: C0006266
Disease: Bronchospasm
Bronchospasm 		0.100 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		0.100 Biomarker disease HPO
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		0.100 Biomarker disease HPO
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.100 Biomarker disease HPO
CUI: C0020672
Disease: Hypothermia, natural
Hypothermia, natural 		0.100 Biomarker phenotype HPO
CUI: C0023066
Disease: Laryngospasm
Laryngospasm 		0.100 Biomarker disease HPO
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.100 Biomarker phenotype HPO
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		0.100 Biomarker phenotype HPO
CUI: C0037315
Disease: Sleep Apnea Syndromes
Sleep Apnea Syndromes 		0.100 Biomarker disease HPO
CUI: C0038450
Disease: Stridor
Stridor 		0.100 Biomarker phenotype HPO
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		0.100 Biomarker phenotype HPO
CUI: C0239548
Disease: Fasciculation, Tongue
Fasciculation, Tongue 		0.100 Biomarker phenotype HPO
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.100 Biomarker disease HPO
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		0.100 Biomarker disease HPO
CUI: C0302885
Disease: Testicular dysgenesis
Testicular dysgenesis 		0.100 Biomarker disease HPO
CUI: C0428977
Disease: Bradycardia
Bradycardia 		0.100 Biomarker phenotype HPO