Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 GeneticVariation disease CLINVAR
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0023418
Disease: leukemia
leukemia 		0.030 Biomarker disease BEFREE These results suggest that ASH2L plays a role in hematopoiesis and is associated with some special kinds of leukemia. 11466562 2001
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.030 Biomarker disease BEFREE These results suggest that ASH2L plays a role in hematopoiesis and is associated with some special kinds of leukemia. 11466562 2001
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.020 AlteredExpression disease BEFREE Ash2 was expressed in 84.4% of hepatocellular carcinomas (38/45) and correlated directly with H3K4diMe modification (correlation coefficient r = 0.53) and LSD1 expression (r = 0.35). 19896696 2010
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.010 Biomarker group BEFREE Therefore, we investigated dimethylation of histone H3 at lysine 4 (H3K4diMe) and H3K4 methylating (Ash2 complex) and demethylating enzymes (LSD1) in carcinomas of the hepatic and gastrointestinal tract. 19896696 2010
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.010 Biomarker group BEFREE We provide examples of how several cardiac TFs, such as Nkx2.5, WHSC1, Tbx5, and Tbx1, which are associated with developmental and congenital heart defects, are required for the recruitment of histone modifiers, such as Jarid2, p300, and Ash2l, and components of ATP-dependent remodeling enzymes like Brg1, Baf60c, and Baf180. 22194017 2012
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.100 GeneticVariation phenotype GWASCAT Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. 22267201 2012
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.100 GeneticVariation phenotype GWASDB Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. 22267201 2012
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.100 GeneticVariation phenotype GWASDB A genome-wide association study of early menopause and the combined impact of identified variants. 23307926 2013
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.100 GeneticVariation phenotype GWASCAT A genome-wide association study of early menopause and the combined impact of identified variants. 23307926 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.200 Biomarker disease RGD Prenatal MAM administration affects histone H3 methylation in postnatal life in the rat medial prefrontal cortex. 23932495 2014
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 AlteredExpression disease BEFREE This study established that ASH2L enhances ERα expression as a coactivator of GATA3 in breast cancers. 25258321 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 AlteredExpression disease BEFREE We found that increased ASH2L expression, which can result from gene amplification, is often correlated with increased ERα expression in both breast cancer cell lines and primary breast cancers. 25258321 2014
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.020 Biomarker phenotype BEFREE Depletion of ASH2 ameliorated cancer cell migration and invasion in an MMP9-dependent manner. 25746000 2015
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 Biomarker group BEFREE Depletion of ASH2 ameliorated cancer cell migration and invasion in an MMP9-dependent manner. 25746000 2015
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 Biomarker group BEFREE Depletion of ASH2 ameliorated cancer cell migration and invasion in an MMP9-dependent manner. 25746000 2015
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.100 GeneticVariation phenotype GWASCAT Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair. 26414677 2015
CUI: C0023418
Disease: leukemia
leukemia 		0.030 AlteredExpression disease BEFREE ASH2L protein levels in primary leukemia patient samples have not yet been defined. 28185526 2017
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.030 AlteredExpression disease BEFREE ASH2L protein levels in primary leukemia patient samples have not yet been defined. 28185526 2017
CUI: C3888194
Disease: MIXED LINEAGE LEUKEMIA
MIXED LINEAGE LEUKEMIA 		0.020 Biomarker disease BEFREE ASH2L encodes a trithorax group protein that is a core component of all characterized mammalian histone H3K4 methyltransferase complexes, including mixed lineage leukemia (MLL) complexes. 28185526 2017
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia 		0.010 AlteredExpression disease BEFREE Together, these results indicate that a lower level of ASH2L protein is beneficial to AML patients. 28185526 2017
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.010 AlteredExpression disease BEFREE Together, these results indicate that a lower level of ASH2L protein is beneficial to AML patients. 28185526 2017
CUI: C0023418
Disease: leukemia
leukemia 		0.030 AlteredExpression disease BEFREE The histone H3 lysine 4 (H3K4) presenter WDR5 forms protein complexes with H3K4 methyltransferases MLL1-MLL4 and binding partner proteins including RBBP5, ASH2L, and DPY30, and plays a key role in histone H3K4 trimethylation, chromatin remodeling, transcriptional activation of target genes, normal biology, and diseases such as MLL-rearranged leukemia. 30488017 2018
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.030 AlteredExpression disease BEFREE The histone H3 lysine 4 (H3K4) presenter WDR5 forms protein complexes with H3K4 methyltransferases MLL1-MLL4 and binding partner proteins including RBBP5, ASH2L, and DPY30, and plays a key role in histone H3K4 trimethylation, chromatin remodeling, transcriptional activation of target genes, normal biology, and diseases such as MLL-rearranged leukemia. 30488017 2018