Disease: Zunich neuroectodermal syndrome ×
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