WNT4, Wnt family member 4, 54361

N. diseases: 135; N. variants: 14
Disease: Mullerian Aplasia and Hyperandrogenism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2675014
Disease: Mullerian Aplasia and Hyperandrogenism
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
CUI: C2675014
Disease: Mullerian Aplasia and Hyperandrogenism
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
CUI: C2675014
Disease: Mullerian Aplasia and Hyperandrogenism
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
CUI: C2675014
Disease: Mullerian Aplasia and Hyperandrogenism
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
CUI: C2675014
Disease: Mullerian Aplasia and Hyperandrogenism
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
CUI: C2675014
Disease: Mullerian Aplasia and Hyperandrogenism
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
CUI: C2675014
Disease: Mullerian Aplasia and Hyperandrogenism
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
CUI: C2675014
Disease: Mullerian Aplasia and Hyperandrogenism
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
CUI: C2675014
Disease: Mullerian Aplasia and Hyperandrogenism
Mullerian Aplasia and Hyperandrogenism 		0.710 CausalMutation disease CLINVAR
CUI: C2675014
Disease: Mullerian Aplasia and Hyperandrogenism
Mullerian Aplasia and Hyperandrogenism 		0.710 Biomarker disease CTD_human