Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848178
Disease: Female external genitalia in individual with 46,XY karyotype
Female external genitalia in individual with 46,XY karyotype 		0.100 Biomarker phenotype HPO
CUI: C1858573
Disease: Sparse pubic hair
Sparse pubic hair 		0.100 Biomarker phenotype HPO
CUI: C1858574
Disease: Sparse axillary hair
Sparse axillary hair 		0.100 Biomarker phenotype HPO
CUI: C1859014
Disease: Primary gonadal insufficiency
Primary gonadal insufficiency 		0.100 Biomarker phenotype HPO
CUI: C4021550
Disease: Elevated circulating follicle stimulating hormone level
Elevated circulating follicle stimulating hormone level 		0.100 Biomarker phenotype HPO
CUI: C4021551
Disease: Absence of secondary sex characteristics
Absence of secondary sex characteristics 		0.100 Biomarker phenotype HPO
CUI: C4021972
Disease: Urogenital sinus anomaly
Urogenital sinus anomaly 		0.100 Biomarker disease HPO
CUI: C4022996
Disease: Abnormal sex determination
Abnormal sex determination 		0.100 Biomarker disease HPO
CUI: C4023101
Disease: Elevated circulating luteinizing hormone level
Elevated circulating luteinizing hormone level 		0.100 Biomarker phenotype HPO
CUI: C4025892
Disease: Abnormality of the labia
Abnormality of the labia 		0.100 Biomarker disease HPO
CUI: C4025895
Disease: Abnormality of the scrotum
Abnormality of the scrotum 		0.100 Biomarker disease HPO
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		0.100 Biomarker disease HPO
CUI: C4073137
Disease: Decreased serum testosterone level
Decreased serum testosterone level 		0.100 Biomarker phenotype HPO
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 Biomarker group BEFREE Ma1, a novel neuron- and testis-specific protein, is recognized by the serum of patients with paraneoplastic neurological disorders. 10050892 1999
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		0.020 AlteredExpression phenotype BEFREE In an attempt to determine the susceptibility of spermatogonia to malignant transformation transgenic mice were generated harboring a 1.3 kb 5'-flanking region of the germ cell specific expressed human testis specific protein, Y-encoded gene fused with the simian virus 40 large T antigen (TAg). 12644295 2003
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		0.300 GeneticVariation disease ORPHANET Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder. 17644778 2007
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		0.020 Biomarker phenotype BEFREE The presence of a well-defined part of the Y chromosome (known as the GBY region) is a prerequisite for malignant transformation, for which the testis-specific protein on the Y chromosome (TSPY) is a likely candidate gene. 17875493 2007
CUI: C0206661
Disease: Gonadoblastoma
Gonadoblastoma 		0.020 Biomarker disease BEFREE Recent studies establish the testis-specific protein Y-encoded (TSPY) gene to be the putative gene for GBY. 19306348 2009
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.020 Biomarker disease BEFREE Our study indicated that chromosome 9p loss is the hallmark of SCC, and DMRT1, DMRT3 and DOCK8 genes at 9p24.3 might be of interest for the study of the pathophysiology of SCC as potential targets for therapeutic measures. 20596660 2010
CUI: C0206661
Disease: Gonadoblastoma
Gonadoblastoma 		0.020 GeneticVariation disease BEFREE The chromosome Y-linked testis-specific protein locus TSPY1 is characteristically present in gonadoblastoma. 20656323 2010
CUI: C3711376
Disease: Isodicentric Chromosome 15 Syndrome
Isodicentric Chromosome 15 Syndrome 		0.010 Biomarker disease BEFREE Male fetuses with inv dup del(9p) and haploinsufficiency of DMRT1 and DMRT3 may present normal male external genitalia without sex reversal. 21482378 2011
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.020 Biomarker disease BEFREE Over-expressed Testis-specific Protein Y-encoded 1 as a novel biomarker for male hepatocellular carcinoma. 24586606 2014
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.020 Biomarker disease BEFREE Our present study aims to explore the methylation levels of acid phosphatase locus 1 (ACP1), bone morphogenetic protein 4 (BMP4), and testis-specific protein, Y-encoded-like 5 (TSPYL5) and their potential clinical applications in HCC. 26386860 2016
CUI: C0205851
Disease: Germ cell tumor
Germ cell tumor 		0.010 AlteredExpression disease BEFREE Testis specific protein Y-encoded (TSPY) is a Y-located proto-oncogene predominantly expressed in normal male germ cells and various types of germ cell tumor. 27771326 2016
CUI: C0279014
Disease: Childhood Germ Cell Tumor
Childhood Germ Cell Tumor 		0.010 AlteredExpression disease BEFREE Testis specific protein Y-encoded (TSPY) is a Y-located proto-oncogene predominantly expressed in normal male germ cells and various types of germ cell tumor. 27771326 2016