Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3640
Gene Symbol: INSL3
INSL3
0.380 Biomarker disease BEFREE <b>Context:</b> Insulin-like peptide 3 (INSL3), a protein hormone produced by Leydig cells, may play a crucial role in testicular descent as male INSL3 knockout mice have bilateral cryptorchidism. 31611843 2019
Entrez Id: 3640
Gene Symbol: INSL3
INSL3
0.380 GeneticVariation disease BEFREE In conclusion, the evidence suggests that mutations of INSL3 may not directly contribute to the damage of spermatogenesis in patients with bilateral cryptorchidism history. 26840636 2016
Entrez Id: 3640
Gene Symbol: INSL3
INSL3
0.380 Biomarker disease BEFREE Definitive evidence of its role in rodent testis descent is illustrated by the phenotype of bilateral cryptorchidism in Insl3-/- null mice. 18647820 2008
Entrez Id: 3640
Gene Symbol: INSL3
INSL3
0.380 GeneticVariation disease BEFREE The common INSL3 G178A polymorphism was not statistically significantly associated with male infertility (P>.05), even though INSL3 is essential for the occurrence of bilateral cryptorchidism. 17559848 2007
Entrez Id: 3640
Gene Symbol: INSL3
INSL3
0.380 Biomarker disease CTD_human Disruption of reproductive development in male rat offspring following in utero exposure to phthalate esters. 16102138 2006
Entrez Id: 3640
Gene Symbol: INSL3
INSL3
0.380 Biomarker disease CTD_human Phthalate ester-induced gubernacular lesions are associated with reduced insl3 gene expression in the fetal rat testis. 14687758 2004
Entrez Id: 3640
Gene Symbol: INSL3
INSL3
0.380 GeneticVariation disease BEFREE Two independent studies demonstrated that transgenic mice with a targeted deletion of the insulin-like 3 ( INSL3) gene presented bilateral cryptorchidism. 12601553 2003
Entrez Id: 3640
Gene Symbol: INSL3
INSL3
0.380 GeneticVariation disease BEFREE Knockout male mice for the INSL3 gene show isolated bilateral cryptorchidism. 11992081 2002
Entrez Id: 3640
Gene Symbol: INSL3
INSL3
0.380 GeneticVariation disease BEFREE The phenotype of transgenic mice with targeted deletion of the Insl3 gene was bilateral cryptorchidism with morphological evidence of abnormal gubernacular development. 11095425 2000
Entrez Id: 3640
Gene Symbol: INSL3
INSL3
0.380 GeneticVariation disease BEFREE We sequenced both exons of the human INSL3 gene in 31 men who presented with idiopathic unilateral or bilateral cryptorchidism. 10729310 2000
Entrez Id: 2879
Gene Symbol: GPX4
GPX4
0.300 Biomarker disease CTD_human To assess the functional significance of phospholipid hydroperoxidase glutathione peroxidase (PHGPx) under cryptorchidism, PHGPx expression was spatiotemporally analyzed in testes and epididymis excised at 1, 4, 7, 14, 21, and 28 days after experimental bilateral cryptorchidism in adult mice. 26050606 2015
Entrez Id: 3284
Gene Symbol: HSD3B2
HSD3B2
0.300 Biomarker disease CTD_human Phospholipid hydroperoxide glutathione peroxidase is involved in the maintenance of male fertility under cryptorchidism in mice. 26050606 2015
Entrez Id: 598
Gene Symbol: BCL2L1
BCL2L1
0.300 Biomarker disease CTD_human Phospholipid hydroperoxide glutathione peroxidase is involved in the maintenance of male fertility under cryptorchidism in mice. 26050606 2015
Entrez Id: 836
Gene Symbol: CASP3
CASP3
0.300 Biomarker disease CTD_human Phospholipid hydroperoxide glutathione peroxidase is involved in the maintenance of male fertility under cryptorchidism in mice. 26050606 2015
Entrez Id: 1131
Gene Symbol: CHRM3
CHRM3
0.300 Biomarker disease CTD_human Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome. 22077972 2011
Entrez Id: 867
Gene Symbol: CBL
CBL
0.300 Biomarker disease CTD_human Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia. 20694012 2010
Entrez Id: 546
Gene Symbol: ATRX
ATRX
0.300 Biomarker disease CTD_human Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax. 19291773 2009
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
0.100 CausalMutation disease CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
0.100 CausalMutation disease CLINVAR Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204 2015
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
0.100 CausalMutation disease CLINVAR Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. 22426309 2012
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1
0.100 CausalMutation disease CLINVAR
Entrez Id: 5426
Gene Symbol: POLE
POLE
0.100 Biomarker disease HPO
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
0.100 Biomarker disease HPO
Entrez Id: 374654
Gene Symbol: KIF7
KIF7
0.100 Biomarker disease HPO
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216
0.100 Biomarker disease HPO