Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848392
Disease: Zunich neuroectodermal syndrome
Zunich neuroectodermal syndrome 		0.730 GeneticVariation disease BEFREE We report a CHIME syndrome patient who harbors a missense mutation c.500T > C (p.Leu167Pro) and a large deletion involving the 5' untranslated region and part of exon 1 of PIGL. 29473937 2019
CUI: C1848392
Disease: Zunich neuroectodermal syndrome
Zunich neuroectodermal syndrome 		0.730 Biomarker disease GENOMICS_ENGLAND Taken together, these findings indicate that patients with a clinical diagnosis of CHIME syndrome and a single identifiable mutation in PIGL warrant further investigation for copynumber changes involving PIGL. 28371479 2017
CUI: C1848392
Disease: Zunich neuroectodermal syndrome
Zunich neuroectodermal syndrome 		0.730 GeneticVariation disease BEFREE Taken together, these findings indicate that patients with a clinical diagnosis of CHIME syndrome and a single identifiable mutation in PIGL warrant further investigation for copynumber changes involving PIGL. 28371479 2017
CUI: C1848392
Disease: Zunich neuroectodermal syndrome
Zunich neuroectodermal syndrome 		0.730 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1848392
Disease: Zunich neuroectodermal syndrome
Zunich neuroectodermal syndrome 		0.730 GeneticVariation disease BEFREE Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. 22444671 2012
CUI: C1848392
Disease: Zunich neuroectodermal syndrome
Zunich neuroectodermal syndrome 		0.730 GermlineCausalMutation disease ORPHANET Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. 22444671 2012
CUI: C1848392
Disease: Zunich neuroectodermal syndrome
Zunich neuroectodermal syndrome 		0.730 CausalMutation disease CLINVAR Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. 22444671 2012
CUI: C1848392
Disease: Zunich neuroectodermal syndrome
Zunich neuroectodermal syndrome 		0.730 GeneticVariation disease UNIPROT Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. 22444671 2012
CUI: C1848392
Disease: Zunich neuroectodermal syndrome
Zunich neuroectodermal syndrome 		0.730 Biomarker disease GENOMICS_ENGLAND Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. 22444671 2012
CUI: C1848392
Disease: Zunich neuroectodermal syndrome
Zunich neuroectodermal syndrome 		0.730 Biomarker disease GENOMICS_ENGLAND Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. 22444671 2012
CUI: C1848392
Disease: Zunich neuroectodermal syndrome
Zunich neuroectodermal syndrome 		0.730 Biomarker disease CTD_human
CUI: C1855923
Disease: Hyperphosphatasia with Mental Retardation
Hyperphosphatasia with Mental Retardation 		0.300 GermlineCausalMutation disease ORPHANET Mutations in PIGL in a patient with Mabry syndrome. 25706356 2015
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.100 GeneticVariation phenotype GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 2017
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0857490
Disease: Granulocyte count
Granulocyte count 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.100 GeneticVariation disease GWASCAT C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis. 24931836 2014
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.100 GeneticVariation disease GWASDB Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1. 22959728 2013
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.100 GeneticVariation disease GWASCAT Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1. 22959728 2013
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO