Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4540478
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52
MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 		0.600 Biomarker disease GENOMICS_ENGLAND Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
CUI: C4540478
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52
MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 		0.600 GeneticVariation disease UNIPROT Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
CUI: C4540478
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52
MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 		0.600 GeneticVariation disease UNIPROT Novel MCA/ID syndrome with ASH1L mutation. 28394464 2017
CUI: C4540478
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52
MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 		0.600 GeneticVariation disease UNIPROT De novo genic mutations among a Chinese autism spectrum disorder cohort. 27824329 2016
CUI: C4540478
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52
MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 		0.600 GeneticVariation disease UNIPROT Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker group GENOMICS_ENGLAND Whereas KMT2C or ASH1L haploinsufficiency results in a predominantly neurodevelopmental phenotype with occasional physical anomalies, KMT5B mutations cause an overgrowth syndrome with intellectual disability. 29276005 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker group GENOMICS_ENGLAND Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.310 Biomarker group CTD_human Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.300 Biomarker group CTD_human Sequencing of prostate cancers identifies new cancer genes, routes of progression and drug targets. 29662167 2018
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.300 Biomarker disease CTD_human Sequencing of prostate cancers identifies new cancer genes, routes of progression and drug targets. 29662167 2018
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		0.300 Biomarker group CTD_human Whole-genome mutational landscape and characterization of noncoding and structural mutations in liver cancer. 27064257 2016
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.300 Biomarker disease CTD_human Whole-genome mutational landscape and characterization of noncoding and structural mutations in liver cancer. 27064257 2016