Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND Our data establish EZH2 mutations as the cause of Weaver syndrome and provide further links between histone modifications and regulation of human growth. 22190405 2011
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.800 GeneticVariation disease UNIPROT Our data establish EZH2 mutations as the cause of Weaver syndrome and provide further links between histone modifications and regulation of human growth. 22190405 2011
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.800 GeneticVariation disease UNIPROT Here, we analyzed eight probands with clinically suspected WS by whole-exome sequencing and identified three mutations: a 25.4-kb deletion partially involving EZH2 and CUL1 (individual 1), a missense mutation (c.707G>C, p.Arg236Thr) in EED (individual 2), and a missense mutation (c.1829A>T, p.Glu610Val) in SUZ12 (suppressor of zeste 12 homolog) (individual 3) inherited from her father (individual 4) with a mosaic mutation. 28229514 2017
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.800 GeneticVariation disease UNIPROT Weaver syndrome and defective cortical development: a rare association. 23239504 2013
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.800 GeneticVariation disease UNIPROT Our results support the hypothesis that WS is caused by constitutional mutations in EZH2 that alter the histone methyltransferase function of PRC2. 26694085 2016
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.800 GeneticVariation disease UNIPROT These data show that mutations in EZH2 cause Weaver syndrome. 22177091 2012
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		0.700 GeneticVariation disease UNIPROT
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma 		0.400 GeneticVariation disease UNIPROT
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
Leukemia, Myelomonocytic, Chronic 		0.320 GeneticVariation disease UNIPROT
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor 		0.220 Biomarker disease RGD Environmental estrogens differentially engage the histone methyltransferase EZH2 to increase risk of uterine tumorigenesis. 22504913 2012
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		0.220 Biomarker disease RGD RAS oncogenic signal upregulates EZH2 in pancreatic cancer. 22222375 2012
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental 		0.200 Biomarker disease RGD Epigenetic changes in renal genes dysregulated in mouse and rat models of type 1 diabetes. 23508046 2013
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy 		0.200 Biomarker disease RGD MicroRNA-214 provokes cardiac hypertrophy via repression of EZH2. 23727574 2013
CUI: C0153458
Disease: malignant neoplasm of head of pancreas
malignant neoplasm of head of pancreas 		0.200 Biomarker disease RGD RAS oncogenic signal upregulates EZH2 in pancreatic cancer. 22222375 2012
CUI: C0153459
Disease: Malignant neoplasm of body of pancreas
Malignant neoplasm of body of pancreas 		0.200 Biomarker disease RGD RAS oncogenic signal upregulates EZH2 in pancreatic cancer. 22222375 2012
CUI: C0153460
Disease: Malignant neoplasm of tail of pancreas
Malignant neoplasm of tail of pancreas 		0.200 Biomarker disease RGD RAS oncogenic signal upregulates EZH2 in pancreatic cancer. 22222375 2012
CUI: C0153463
Disease: Malignant neoplasm of other specified sites of pancreas
Malignant neoplasm of other specified sites of pancreas 		0.200 Biomarker disease RGD RAS oncogenic signal upregulates EZH2 in pancreatic cancer. 22222375 2012
CUI: C2750440
Disease: FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1
FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1 		0.200 Biomarker disease RGD EZH2 down-regulation exacerbates lipid accumulation and inflammation in in vitro and in vivo NAFLD. 24351808 2013
CUI: C2750441
Disease: LIVER DISEASE, ALCOHOLIC, SUSCEPTIBILITY TO, 1
LIVER DISEASE, ALCOHOLIC, SUSCEPTIBILITY TO, 1 		0.200 Biomarker phenotype RGD EZH2 down-regulation exacerbates lipid accumulation and inflammation in in vitro and in vivo NAFLD. 24351808 2013
CUI: C3150651
Disease: FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2
FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2 		0.200 Biomarker phenotype RGD EZH2 down-regulation exacerbates lipid accumulation and inflammation in in vitro and in vivo NAFLD. 24351808 2013
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.800 GermlineCausalMutation disease ORPHANET Through analyses of clinical data and facial photographs of EZH2 mutation-positive individuals, we have shown that the facial features can be subtle and the clinical diagnosis of Weaver syndrome is thus challenging, especially in older individuals. 24214728 2013
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.800 GermlineCausalMutation disease ORPHANET These data show that mutations in EZH2 cause Weaver syndrome. 22177091 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.130 Biomarker group HPO
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.120 Biomarker phenotype HPO