KAT8, lysine acetyltransferase 8, 84148

N. diseases: 80; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.310 Biomarker phenotype GENOMICS_ENGLAND Moreover, we describe KAT8 variants in 9 patients with intellectual disability, seizures, autism, dysmorphisms, and other anomalies. 31794431 2020
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker group GENOMICS_ENGLAND Moreover, we describe KAT8 variants in 9 patients with intellectual disability, seizures, autism, dysmorphisms, and other anomalies. 31794431 2020
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 GeneticVariation group BEFREE Moreover, we describe KAT8 variants in nine patients with intellectual disability, seizures, autism, dysmorphisms and other anomalies. 31794431 2020
CUI: C0036572
Disease: Seizures
Seizures 		0.310 Biomarker phenotype BEFREE Adsorption behavior of UiO-67 exhibits a better fitting to pseudo-second-order kinetic model and Langmuir model. 29548448 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.310 Biomarker disease BEFREE The results revealed novel genetic variants related to neuronal function exclusively in the person with schizophrenia (frameshift: KAT8, APOH and SNX31; nonsense: EFCAB11 and CLVS2). 24482440 2014
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.310 Biomarker disease PSYGENET The results revealed novel genetic variants related to neuronal function exclusively in the person with schizophrenia (frameshift: KAT8, APOH and SNX31; nonsense: EFCAB11 and CLVS2). 24482440 2014
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.300 Biomarker disease GENOMICS_ENGLAND Moreover, we describe KAT8 variants in 9 patients with intellectual disability, seizures, autism, dysmorphisms, and other anomalies. 31794431 2020
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.300 Biomarker phenotype GENOMICS_ENGLAND Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability. 31794431 2020
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		0.300 Biomarker group GENOMICS_ENGLAND Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability. 31794431 2020
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker disease GENOMICS_ENGLAND Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability. 31794431 2020
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		0.300 Biomarker disease GENOMICS_ENGLAND Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability. 31794431 2020
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.300 Biomarker disease CTD_human MOF Acetyl Transferase Regulates Transcription and Respiration in Mitochondria. 27768893 2016
CUI: C0018801
Disease: Heart failure
Heart failure 		0.300 Biomarker disease CTD_human MOF Acetyl Transferase Regulates Transcription and Respiration in Mitochondria. 27768893 2016
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.300 Biomarker disease CTD_human MOF Acetyl Transferase Regulates Transcription and Respiration in Mitochondria. 27768893 2016
CUI: C0023212
Disease: Left-Sided Heart Failure
Left-Sided Heart Failure 		0.300 Biomarker disease CTD_human MOF Acetyl Transferase Regulates Transcription and Respiration in Mitochondria. 27768893 2016
CUI: C0235527
Disease: Heart Failure, Right-Sided
Heart Failure, Right-Sided 		0.300 Biomarker disease CTD_human MOF Acetyl Transferase Regulates Transcription and Respiration in Mitochondria. 27768893 2016
CUI: C1959583
Disease: Myocardial Failure
Myocardial Failure 		0.300 Biomarker disease CTD_human MOF Acetyl Transferase Regulates Transcription and Respiration in Mitochondria. 27768893 2016
CUI: C1961112
Disease: Heart Decompensation
Heart Decompensation 		0.300 Biomarker phenotype CTD_human MOF Acetyl Transferase Regulates Transcription and Respiration in Mitochondria. 27768893 2016
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		0.300 Biomarker disease CTD_human MOF Acetyl Transferase Regulates Transcription and Respiration in Mitochondria. 27768893 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE A biomimetic MOF nanoreactor enables synergistic suppression of intracellular defense systems for augmented tumor ablation. 31850458 2020
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 GeneticVariation disease GWASCAT Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk. 30617256 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE Therefore, the proposed AS1411@PEGMA@GQD@γ-CD-MOF composite is promising for effective DOX delivery and tumour growth inhibition both in vitro and in vivo, showing great potential for anticancer therapy. 31660562 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE <i>In vivo</i> experiments revealed that the MOF NPs could effectively inhibit melanoma growth and prevent tumor postoperative recurrence with only one X-ray irradiation after intravenous injection. 31293764 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE Taken together, our results define MOF as a potential tumor suppressor in ECa participates in maintenance of ERα protein stability and regulation of ERα action. 30598260 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE Meanwhile, the acidic micro-environment of tumor enhanced by the generated H+ degrades the MOF(Fe) simultaneously releasing CPT for chemotherapy and Fe3+, catalyzing H2O2 into one of the strongest reactive oxygen species (ROS) ˙OH enabling ROS-mediated therapy. 31361291 2019