WT1, WT1 transcription factor, 7490

N. diseases: 446; N. variants: 61
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		0.010 GeneticVariation group BEFREE The design of the study was: 1) sequencing of the WT1 gene in 210 patients with 46,XY DSD from the German DSD network, consisting of 150 males with severe hypospadias (70 without cryptorchidism, 80 with at least one cryptorchid testis), 10 males with vanishing testes syndrome, and 50 raised females with partial to complete 46,XY gonadal dysgenesis; and 2) genotype-phenotype correlation of our and all published patients with 46,XY DSD and WT1 mutations. 21508141 2011
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		0.300 GeneticVariation disease ORPHANET WT1 deletion leading to severe 46,XY gonadal dysgenesis, Wilms tumor and gonadoblastoma: case report. 25613702 2015
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		0.100 Biomarker phenotype HPO
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.100 Biomarker phenotype HPO
CUI: C4022996
Disease: Abnormal sex determination
Abnormal sex determination 		0.100 Biomarker disease HPO
CUI: C1856023
Disease: Abnormal vagina morphology
Abnormal vagina morphology 		0.100 Biomarker phenotype HPO
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		0.100 Biomarker disease HPO
CUI: C1848873
Disease: Abnormality of the diaphragm
Abnormality of the diaphragm 		0.010 GeneticVariation phenotype BEFREE These results exclude WT1 gene mutations as a major etiological factor for the isolated diaphragmatic defect. 8811558 1996
CUI: C0281842
Disease: Abnormality of the fallopian tube
Abnormality of the fallopian tube 		0.100 Biomarker phenotype HPO
CUI: C4025892
Disease: Abnormality of the labia
Abnormality of the labia 		0.100 Biomarker disease HPO
CUI: C4025698
Disease: Abnormality of the peritoneum
Abnormality of the peritoneum 		0.100 Biomarker disease HPO
CUI: C4025895
Disease: Abnormality of the scrotum
Abnormality of the scrotum 		0.100 Biomarker disease HPO
CUI: C4025749
Disease: Abnormality of the spleen
Abnormality of the spleen 		0.100 Biomarker disease HPO
CUI: C4021551
Disease: Absence of secondary sex characteristics
Absence of secondary sex characteristics 		0.100 Biomarker phenotype HPO
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.010 AlteredExpression disease BEFREE In 50 vestibular schwannomas tumor growth extension was correlated to WT1 expression. 21178265 2010
CUI: C0023464
Disease: Acute biphenotypic leukemia
Acute biphenotypic leukemia 		0.010 AlteredExpression disease BEFREE Clear correlation was observed between the relative levels of WT1 gene expression (< 0.6 v > or = 0.6) and the prognosis for acute leukemia (AML, ALL, and AMLL). 7949179 1994
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia 		0.020 Biomarker disease BEFREE In this study, we performed experiments to assess the suitability of the human K562 erythroleukemia cell line for studying the WT1 gene during differentiation. 8086342 1994
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia 		0.020 AlteredExpression disease BEFREE This orientation-independent enhancer increases the basal transcription rate of the WT1 promoter in the human erythroleukemia cell line K562, but not in any of the other cell lines tested. 8132626 1994
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.100 AlteredExpression disease BEFREE Recently, we and others found Wilms' tumour (WT1) gene expression to be increased in virtually all patients with acute leukaemias, whereas normal haemopoietic progenitors express the WT1 gene at much lower levels or not at all. 9609529 1998
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.100 GeneticVariation disease BEFREE The role of the Wilms tumor 1 gene (WT1) in acute leukemias has been underscored by mutations found in acute myeloid leukemia identifying patients with inferior survival. 20435628 2010
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.100 AlteredExpression disease BEFREE Wilms' tumor 1 (WT1) is constantly expressed in leukemic cells of acute leukemia and myelodysplastic syndrome (MDS). 28860210 2017
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.100 Biomarker disease BEFREE Loss of WT1 gene function has been implicated in the development of malignancies including Wilms' tumor and acute leukemias. 10706085 2000
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.100 GeneticVariation disease BEFREE The Wilms' tumor (WT1) gene is overexpressed in patients with most forms of acute leukemia. 15339675 2004
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.100 GeneticVariation disease BEFREE The clinical relevance of Wilms Tumour 1 (WT1) gene mutations in acute leukaemia. 20013787 2010
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.100 Biomarker disease BEFREE WT1 gene transcript assay for relapse in acute leukemia after transplantation. 15223632 2004