Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6736
Gene Symbol: SRY
SRY 		0.100 Biomarker disease HPO
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		0.100 Biomarker disease HPO
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2 		0.100 Biomarker disease HPO
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.100 Biomarker disease HPO
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		0.110 GeneticVariation disease BEFREE Exome sequencing identified novel NR5A1 variants, both affecting exon 7, in 2 of the 10 subjects with bifid scrotum. 27553487 2017
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		0.010 Biomarker disease BEFREE We report a boy with VACTERL association and shawl scrotum with bifid scrotum who presented with a de novo Yq11.223q11.23 microdeletion identified by array CGH. 31315107 2019