Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225239
Disease: DESANTO-SHINAWI SYNDROME
DESANTO-SHINAWI SYNDROME 		0.600 CausalMutation disease CLINVAR De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila. 26757981 2016
CUI: C4225239
Disease: DESANTO-SHINAWI SYNDROME
DESANTO-SHINAWI SYNDROME 		0.600 GermlineCausalMutation disease ORPHANET WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome. 26264232 2015
CUI: C4225239
Disease: DESANTO-SHINAWI SYNDROME
DESANTO-SHINAWI SYNDROME 		0.600 Biomarker disease CTD_human
CUI: C4225239
Disease: DESANTO-SHINAWI SYNDROME
DESANTO-SHINAWI SYNDROME 		0.600 GeneticVariation disease CLINVAR
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.350 GeneticVariation group BEFREE Furthermore, de novo heterozygous constitutional pathogenic variants of WAC have recently been shown to cause a syndromic form of intellectual disability, DeSanto-Shinawi syndrome. 29663678 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.350 Biomarker group BEFREE To investigate the role of WAC in ID, we studied the importance of the Drosophila WAC orthologue (CG8949) in habituation, a non-associative learning paradigm. 26757981 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.350 GeneticVariation group BEFREE These findings strengthen the hypothesis that haploinsufficency of WAC gene might be likely responsible for intellectual disability and behavior disorders. 27119754 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.350 GeneticVariation group BEFREE Mutations in WAC have been recently reported in large screening cohorts of patients with intellectual disability or autism, but no full phenotypic characterisation was described. 26264232 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.350 Biomarker group GENOMICS_ENGLAND Mutations in WAC have been recently reported in large screening cohorts of patients with intellectual disability or autism, but no full phenotypic characterisation was described. 26264232 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.350 GeneticVariation group BEFREE In our analyses of more than 536 cases of clinically undiagnosed multiple congenital anomalies and mental retardation (MR) by microarray-based comparative genomic hybridization, we detected two non-consanguineous unrelated patients with microdeletions at 10p11.23-p12.1, which overlapped for 957 kb, including four protein-coding genes: ARMC4, MPP7, WAC and BAMBI. 22258158 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.350 Biomarker group GENOMICS_ENGLAND
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.300 Biomarker group CTD_human A single-copy Sleeping Beauty transposon mutagenesis screen identifies new PTEN-cooperating tumor suppressor genes. 28319090 2017
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.300 Biomarker disease CTD_human We validated ZBTB20, CELF2, PARD3, AKAP13 and WAC, which were identified by our screens in multiple cancer types, as new tumor suppressor genes in prostate cancer. 28319090 2017
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.300 Biomarker group CTD_human Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
CUI: C4225431
Disease: CHROMOSOME 10p12-p11 DELETION SYNDROME
CHROMOSOME 10p12-p11 DELETION SYNDROME 		0.300 GermlineCausalMutation disease ORPHANET WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome. 26264232 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.300 GeneticVariation disease UNIPROT
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila. 26757981 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 GeneticVariation disease GWASCAT Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. 26830138 2016
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.100 GeneticVariation disease GWASCAT Genome-wide association study identifies multiple susceptibility loci for multiple myeloma. 27363682 2016
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila. 26757981 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila. 26757981 2016
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome. 26264232 2015
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder. 26325558 2015
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder. 26325558 2015
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome. 26264232 2015