Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10046
Gene Symbol: MAMLD1
MAMLD1
0.040 Biomarker group BEFREE Data mining from various databases has not only reinforced the role of well-established genes (e.g., SRY, WT1, DHH, NR5A1, DMRT1, AR, SRD5A2, MAMLD1) involved in DSD but also provided us 12 more potential candidate genes (ACVR1, AMHR2, CTNNB1, CYP11A1, CYP19A1, FGFR2, FGF9, PRKACA, PRKACG, SMAD9, TERT, ZFPM2), which benefit from a close association with the well-established genes involved in DSD and might be useful to screen owing to their direct gene-phenotype relationship or through direct functional interaction. 30550360 2019
Entrez Id: 10046
Gene Symbol: MAMLD1
MAMLD1
0.040 Biomarker group BEFREE However, extensive studies have been carried out in humans, showing that polymorphisms and mutations of numerous genes, including SRY, MAMLD1, SRD5A2, and AR, are associated with or responsible for XY DSD. 31055572 2019
Entrez Id: 10046
Gene Symbol: MAMLD1
MAMLD1
0.040 Biomarker group BEFREE MAMLD1 is a causative gene for disorders of sex development. 25833151 2015
Entrez Id: 10046
Gene Symbol: MAMLD1
MAMLD1
0.040 Biomarker group BEFREE MAMLD1 (mastermind-like domain containing 1) is a recently discovered causative gene for 46,XY disorders of sex development (DSD), with hypospadias as the salient clinical phenotype. 23044878 2012