DisGeNET - a database of gene-disease associations

Penile hypospadias, C1691215

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1064795104

EXOC6B

0.700

GeneticVariation

CLINVAR

Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.

25256811

2014

dbSNP:

rs1064795104

EXOC6B

0.700

GeneticVariation

CLINVAR

Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.

23422942

2013

dbSNP:

rs1057516030

DYRK1A ; LOC105372797

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057518944

NIPBL

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1085307132

PUF60 ; SCRIB

GTTTT

0.700

GeneticVariation

CLINVAR

dbSNP:

rs121909574

TFAP2A ; TFAP2A-AS2

0.700

CausalMutation

CLINVAR

dbSNP:

rs132630297

PHF6

0.700

CausalMutation

CLINVAR

dbSNP:

rs1555706928

SETBP1

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1565286228

MYRF

0.700

CausalMutation

CLINVAR

dbSNP:

rs1565308384

MYRF ; TMEM258

0.700

CausalMutation

CLINVAR

dbSNP:

rs1569309484

RLIM

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1569509136

HUWE1

0.700

GeneticVariation

CLINVAR

dbSNP:

rs180177135

PALB2

0.700

CausalMutation

CLINVAR

dbSNP:

rs199469465

SRCAP

0.700

CausalMutation

CLINVAR

dbSNP:

rs200750564

HOXD13

0.700

CausalMutation

CLINVAR

dbSNP:

rs523349

SRD5A2

0.050

GeneticVariation

BEFREE

This meta-analysis suggested that the V89L polymorphism definitely increases the risk of hypospadias, and the C allele is a genetic risk factor for hypospadias occurrence.

28713005

2017

dbSNP:

rs523349

SRD5A2

0.050

GeneticVariation

BEFREE

Additionally, we performed PCR-RFLP for the two identified polymorphisms and revealed that V89L [OR = 5.8, 95% CI (3.8-8.8), p value < 0.001] and A49T [OR = 10.16, 95% CI (3.94-26.25), p value < 0.001] are significantly associated with hypospadias occurrence in patients.

27848231

2017

dbSNP:

rs523349

SRD5A2

0.050

GeneticVariation

BEFREE

V89L polymorphism of the SRD5A2 gene is a strong determinant of hypospadias risk among children of Indian origin.

21511288

2011

dbSNP:

rs523349

SRD5A2

0.050

GeneticVariation

BEFREE

To investigate the possible associations between common polymorphisms in HSD17B3 as well as well-known V89L polymorphism in SRD5A2 and risk of hypospadias.

20059664

2010

dbSNP:

rs523349

SRD5A2

0.050

GeneticVariation

BEFREE

The valine allele of the V89L polymorphism in the 5-alpha-reductase gene confers a reduced risk for hypospadias.

16174723

2005

dbSNP:

rs7063116

0.030

GeneticVariation

BEFREE

Five SNPs (rs2211122, rs4554617, rs7058226, rs7063116, and rs5915254) in DGKK were significantly associated with hypospadias (P < 0.05), with odds ratios (ORs) of 1.64-1.76.

28597849

2019

dbSNP:

rs7063116

0.030

GeneticVariation

BEFREE

Six SNPs (rs1934179, rs4143304, rs9969978, rs1934188, rs7063116 and rs1934190) were significantly associated with mild/moderate hypospadias (ORs >1, P < 0.05), and rs1934179 was significantly associated with severe hypospadias (OR > 1, P < 0.05).

25327554

2015

dbSNP:

rs7063116

0.030

GeneticVariation

BEFREE

Individual genotyping of two SNPs (rs1934179 and rs7063116) in DGKK, encoding diacylglycerol kinase κ, produced compelling evidence for association with hypospadias in the discovery sample (allele-specific odds ratio (OR) = 2.5, P = 2.5 × 10⁻¹¹ and OR = 2.3, P = 2.9 × 10⁻⁹, respectively) and in the Dutch (OR = 3.9, P = 2.4 × 10⁻⁵ and OR = 3.8, P = 3.4 × 10⁻⁵) and Swedish (OR = 2.5, P = 2.6 × 10⁻⁸ and OR = 2.2, P = 2.7 × 10⁻⁶) replication samples.

21113153

2011

dbSNP:

rs4919686

CYP17A1 ; WBP1L ; CYP17A1-AS1

0.020

GeneticVariation

BEFREE

Analysis of the distributions of SNPs in CYP1A1 and CYP17A1 genes showed that the mutant genotype CC (OR = 4.87) of CYP1A1 rs1048943, and mutant genotype CC (OR = 5.82), recessive genotype AC + CC (OR = 2.17) and allele C (OR = 1.77) of CYP17A1 rs4919686 significantly increased the risk of HS.

30858503

2019

dbSNP:

rs9332967

SRD5A2

0.020

GeneticVariation

BEFREE

The unique features of SRD5A2 defects were p.R246Q (most prevalent) and p.G196S could be mutational hotspots, dual gene defects (p.A596T in AR and p.G196S in SRD5A2) in a patient with hypospadias and novel 8 nucleotide deletion (exon 1) found in a patient with perineal hypospadias.

30550360

2019