WNT4, Wnt family member 4, 54361

N. diseases: 135; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Mullerian Aplasia and Hyperandrogenism
0.710 Biomarker disease BEFREE Increased cDC2 numbers due to CD11c-restricted Wnt4 deficiency increased IL-5 production, group 2 innate lymphoid cell expansion, and host resistance to the hookworm parasite <i>Nippostrongylus brasiliensis</i> Collectively, these data uncover a novel and unexpected role for Wnt4 in cDC subset differentiation and type 2 immunity. 31175162 2019
Mullerian Aplasia and Hyperandrogenism
0.710 GermlineCausalMutation disease ORPHANET Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and müllerian duct abnormalities: a French collaborative study. 18182450 2008
Mullerian Aplasia and Hyperandrogenism
0.710 GeneticVariation disease UNIPROT Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and müllerian duct abnormalities: a French collaborative study. 18182450 2008
Mullerian Aplasia and Hyperandrogenism
0.710 GeneticVariation disease UNIPROT WNT4 deficiency--a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: a case report. 16959810 2007
Mullerian Aplasia and Hyperandrogenism
0.710 GermlineCausalMutation disease ORPHANET WNT4 deficiency--a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: a case report. 16959810 2007
Mullerian Aplasia and Hyperandrogenism
0.710 Biomarker disease GENOMICS_ENGLAND A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman. 15317892 2004
Mullerian Aplasia and Hyperandrogenism
0.710 GeneticVariation disease UNIPROT A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman. 15317892 2004
Mullerian Aplasia and Hyperandrogenism
0.710 Biomarker disease GENOMICS_ENGLAND A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman. 15317892 2004
Mullerian Aplasia and Hyperandrogenism
0.710 CausalMutation disease CLINVAR
Mullerian Aplasia and Hyperandrogenism
0.710 Biomarker disease CTD_human
Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs
0.600 GermlineCausalMutation disease ORPHANET SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4. 18179883 2008
Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs
0.600 GeneticVariation disease UNIPROT SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4. 18179883 2008
Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs
0.600 Biomarker disease GENOMICS_ENGLAND A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman. 15317892 2004
Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs
0.600 Biomarker disease CTD_human
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.400 Biomarker disease CTD_human These studies demonstrate that Wnt4 overexpression leads to dwarfism in mice. 17505543 2007
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.400 Biomarker disease HPO
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.320 GeneticVariation disease BEFREE A total of eight tag single-nucleotide polymorphisms (SNPs) were genotyped successfully, and both single SNP and haplotype analyses were performed to detect the potential association of variations in the WNT4 gene with EOC. 30457351 2018
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.320 Biomarker disease CTD_human Variants at 1p36 (nearest gene, WNT4), 4q26 (SYNPO2), 9q34.2 (ABO) and 17q11.2 (ATAD5) were associated with EOC risk, and at 1p34.3 (RSPO1) and 6p22.1 (GPX6) variants were specifically associated with the serous EOC subtype, all with P < 5 × 10(-8). 25581431 2015
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.320 GeneticVariation disease BEFREE Variants at 1p36 (nearest gene, WNT4), 4q26 (SYNPO2), 9q34.2 (ABO) and 17q11.2 (ATAD5) were associated with EOC risk, and at 1p34.3 (RSPO1) and 6p22.1 (GPX6) variants were specifically associated with the serous EOC subtype, all with P < 5 × 10(-8). 25581431 2015
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.310 Biomarker group BEFREE WNT4 Expression in Primary and Secondary Kidney Diseases: Dependence on Staging. 31067548 2019
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.310 Biomarker group CTD_human Wnt4 expression is induced throughout the collecting ducts in four murine models of renal injury that produce tubulointerstitial fibrosis: folic acid-induced nephropathy, unilateral ureteral obstruction, renal needle puncture, and genetic polycystic kidney disease. 11832423 2002
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
0.300 Biomarker group CTD_human Identification of genes potentially involved in the acquisition of androgen-independent and metastatic tumor growth in an autochthonous genetically engineered mouse prostate cancer model. 17013881 2007
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.300 Biomarker disease CTD_human Identification of genes potentially involved in the acquisition of androgen-independent and metastatic tumor growth in an autochthonous genetically engineered mouse prostate cancer model. 17013881 2007
CUI: C1720887
Disease: Female Urogenital Diseases
Female Urogenital Diseases
0.300 Biomarker group CTD_human Development of the mammalian female reproductive tract. 16002989 2005
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.200 GeneticVariation disease BEFREE This might constitute the first step towards identifying polymorphism combinations that predispose to endometriosis (IFNG (CA) repeat, GSTM1 null genotype, GSTP1 rs1695, WNT4 rs16826658 and WNT4 rs2235529) in a large cohort of patients with well-defined inclusion criteria. 31821471 2020