Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809092
Disease: ADAMS-OLIVER SYNDROME 4
ADAMS-OLIVER SYNDROME 4 		0.600 CausalMutation disease CLINVAR Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. 29924900 2018
CUI: C3809092
Disease: ADAMS-OLIVER SYNDROME 4
ADAMS-OLIVER SYNDROME 4 		0.600 GeneticVariation disease CLINVAR Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase. 23860037 2014
CUI: C3809092
Disease: ADAMS-OLIVER SYNDROME 4
ADAMS-OLIVER SYNDROME 4 		0.600 GeneticVariation disease CLINVAR Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. 23522784 2013
CUI: C3809092
Disease: ADAMS-OLIVER SYNDROME 4
ADAMS-OLIVER SYNDROME 4 		0.600 GeneticVariation disease UNIPROT Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. 23522784 2013
CUI: C3809092
Disease: ADAMS-OLIVER SYNDROME 4
ADAMS-OLIVER SYNDROME 4 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3809092
Disease: ADAMS-OLIVER SYNDROME 4
ADAMS-OLIVER SYNDROME 4 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C4551482
Disease: Adams-Oliver syndrome 1
Adams-Oliver syndrome 1 		0.560 GeneticVariation disease BEFREE Our observations along with the previously published cases indicate that the two types of recessive AOS (EOGT- vs. DOCK6-associated) differ significanty regarding the frequency of neurologic or ocular deficits. 31368252 2019
CUI: C4551482
Disease: Adams-Oliver syndrome 1
Adams-Oliver syndrome 1 		0.560 GeneticVariation disease BEFREE NOTCH1 is the major contributor, underlying 10% of AOS/ACC/TTLD cases, with DLL4 (6%), DOCK6 (6%), ARHGAP31 (3%), EOGT (3%), and RBPJ (2%) representing additional causality in this cohort. 29924900 2018
CUI: C4551482
Disease: Adams-Oliver syndrome 1
Adams-Oliver syndrome 1 		0.560 GeneticVariation disease BEFREE Recently, a second type of autosomal-recessive AOS has been attributed to EOGT mutations in three consanguineous families. 25824905 2015
CUI: C4551482
Disease: Adams-Oliver syndrome 1
Adams-Oliver syndrome 1 		0.560 Biomarker disease BEFREE Impaired O-linked N-acetylglucosaminylation in the endoplasmic reticulum by mutated epidermal growth factor (EGF) domain-specific O-linked N-acetylglucosamine transferase found in Adams-Oliver syndrome. 25488668 2015
CUI: C4551482
Disease: Adams-Oliver syndrome 1
Adams-Oliver syndrome 1 		0.560 Biomarker disease BEFREE Because RBPJ, NOTCH1, and EOGT are involved in NOTCH signaling, we hypothesized that mutations in other genes involved in this pathway might also be implicated in AOS pathogenesis. 26299364 2015
CUI: C4551482
Disease: Adams-Oliver syndrome 1
Adams-Oliver syndrome 1 		0.560 Biomarker disease GENOMICS_ENGLAND Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. 23522784 2013
CUI: C4551482
Disease: Adams-Oliver syndrome 1
Adams-Oliver syndrome 1 		0.560 GeneticVariation disease BEFREE Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. 23522784 2013
CUI: C4551482
Disease: Adams-Oliver syndrome 1
Adams-Oliver syndrome 1 		0.560 Biomarker disease CTD_human
CUI: C0265268
Disease: Adams Oliver syndrome
Adams Oliver syndrome 		0.420 Biomarker disease BEFREE Impaired O-linked N-acetylglucosaminylation in the endoplasmic reticulum by mutated epidermal growth factor (EGF) domain-specific O-linked N-acetylglucosamine transferase found in Adams-Oliver syndrome. 25488668 2015
CUI: C0265268
Disease: Adams Oliver syndrome
Adams Oliver syndrome 		0.420 GermlineCausalMutation disease ORPHANET Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. 23522784 2013
CUI: C0265268
Disease: Adams Oliver syndrome
Adams Oliver syndrome 		0.420 GeneticVariation disease BEFREE Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. 23522784 2013
CUI: C0265268
Disease: Adams Oliver syndrome
Adams Oliver syndrome 		0.420 GeneticVariation disease CLINVAR
CUI: C2931779
Disease: Congenital defect of skull and scalp
Congenital defect of skull and scalp 		0.300 Biomarker disease CTD_human
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		0.110 GeneticVariation disease BEFREE NOTCH1 is the major contributor, underlying 10% of AOS/ACC/TTLD cases, with DLL4 (6%), DOCK6 (6%), ARHGAP31 (3%), EOGT (3%), and RBPJ (2%) representing additional causality in this cohort. 29924900 2018
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		0.110 Biomarker disease HPO
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0002170
Disease: Alopecia
Alopecia 		0.100 Biomarker disease HPO
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		0.100 Biomarker disease HPO
CUI: C0003962
Disease: Ascites
Ascites 		0.100 Biomarker phenotype HPO