Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10046
Gene Symbol: MAMLD1
MAMLD1 		0.200 Biomarker disease HPO
Entrez Id: 3239
Gene Symbol: HOXD13
HOXD13 		0.110 CausalMutation disease CLINVAR
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 746
Gene Symbol: TMEM258
TMEM258 		0.100 CausalMutation disease CLINVAR
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 745
Gene Symbol: MYRF
MYRF 		0.100 CausalMutation disease CLINVAR
Entrez Id: 57724
Gene Symbol: EPG5
EPG5 		0.100 Biomarker disease HPO
Entrez Id: 51132
Gene Symbol: RLIM
RLIM 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP 		0.100 CausalMutation disease CLINVAR
Entrez Id: 79728
Gene Symbol: PALB2
PALB2 		0.100 CausalMutation disease CLINVAR
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		0.100 CausalMutation disease CLINVAR
Entrez Id: 84295
Gene Symbol: PHF6
PHF6 		0.100 CausalMutation disease CLINVAR
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A 		0.100 CausalMutation disease CLINVAR
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		0.100 Biomarker disease HPO
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 3209
Gene Symbol: HOXA13
HOXA13 		0.020 Biomarker disease BEFREE Hypospadias in the Hoxa13 -/- mice occurs as a result of the combined loss of Fgf8 and Bmp7 expression in the UPE. 17264867 2007
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		0.010 GeneticVariation disease BEFREE Hypospadias was neither associated with folic acid use or the MTHFR C677T polymorphism, nor with their interaction. 26879531 2016
Entrez Id: 2255
Gene Symbol: FGF10
FGF10 		0.030 GeneticVariation disease BEFREE FGF-10 deficient mutant male mouse revealed normal corporal bodies with failure of the urethral plate to fuse ventrally consistent with hypospadias. 15086024 2004
Entrez Id: 467
Gene Symbol: ATF3
ATF3 		0.070 Biomarker disease BEFREE ATF3 is involved in the TGF-beta epithelial-mesenchymal signaling pathway, and its involvement in hypospadias suggests that ATF3 plays a role in development of this anomaly as a result of exposure to estrogenic compounds. 18001166 2007
Entrez Id: 10046
Gene Symbol: MAMLD1
MAMLD1 		0.200 GeneticVariation disease BEFREE Mastermind-like domain containing 1/chromosome X open reading frame 6 mutation and activating transcription factor 3 variants have been shown to be associated with the incidence of isolated hypospadias. 19995686 2010
Entrez Id: 5304
Gene Symbol: PIP
PIP 		0.010 AlteredExpression disease BEFREE PIP was expressed in the human prepuces of the patients with hypospadias and phimosis. 21883842 2012
Entrez Id: 5601
Gene Symbol: MAPK9
MAPK9 		0.010 AlteredExpression disease BEFREE JNK2 phosphorylated protein levels increased significantly in those with severe hypospadias compared with those with mild hypospadias (P<.05). 23273084 2013
Entrez Id: 2100
Gene Symbol: ESR2
ESR2 		0.060 GeneticVariation disease BEFREE ESR2 single nucleotide polymorphisms (rs944050; 2681-4A>G) have been associated with an increased risk of hypospadias in previous studies. 27300571 2016
Entrez Id: 7490
Gene Symbol: WT1
WT1 		0.040 GeneticVariation disease BEFREE WT1 gene mutations have been described in 46,XY patients with ambiguous genitalia or complete gonadal dysgenesis with or without Wilms' tumor, nephropathy, gonadoblastoma, and other defects, e.g., cryptorchidism or hypospadias. p.R462W is a hot spot mutation in exon 9 and is the most common mutation in patients with Denys-Drash syndrome. 29320783 2017