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 Biomarker disease CTD_human
CUI: C4225239
Disease: DESANTO-SHINAWI SYNDROME
DESANTO-SHINAWI SYNDROME 		0.600 GeneticVariation disease CLINVAR
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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.300 GeneticVariation disease UNIPROT
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: 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: 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: C0003467
Disease: Anxiety
Anxiety 		0.100 Biomarker disease HPO
CUI: C0004106
Disease: Astigmatism
Astigmatism 		0.100 Biomarker disease HPO
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: C0027092
Disease: Myopia
Myopia 		0.100 Biomarker disease HPO
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 Biomarker disease HPO
CUI: C0158986
Disease: Neonatal hypoglycemia
Neonatal hypoglycemia 		0.100 CausalMutation disease CLINVAR
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		0.100 Biomarker disease HPO
CUI: C0269269
Disease: Inversion of nipple (disorder)
Inversion of nipple (disorder) 		0.100 Biomarker disease HPO
CUI: C0431447
Disease: Synophrys
Synophrys 		0.100 Biomarker disease HPO
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		0.100 Biomarker disease HPO
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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899 2014
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11. 21522184 2011
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder. 26325558 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease 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: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO