Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9487
Gene Symbol: PIGL
PIGL
CUI: C1848392
Disease: Zunich neuroectodermal syndrome
Zunich neuroectodermal syndrome 		0.730 Biomarker 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
Entrez Id: 9487
Gene Symbol: PIGL
PIGL
CUI: C1848392
Disease: Zunich neuroectodermal syndrome
Zunich neuroectodermal syndrome 		0.730 Biomarker GENOMICS_ENGLAND Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. 22444671

2012
Entrez Id: 9487
Gene Symbol: PIGL
PIGL
CUI: C1848392
Disease: Zunich neuroectodermal syndrome
Zunich neuroectodermal syndrome 		0.730 Biomarker GENOMICS_ENGLAND Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. 22444671

2012
Entrez Id: 9487
Gene Symbol: PIGL
PIGL
CUI: C1848392
Disease: Zunich neuroectodermal syndrome
Zunich neuroectodermal syndrome 		0.730 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 5818
Gene Symbol: NECTIN1
NECTIN1
CUI: C2931488
Disease: Zlotogora-Ogur syndrome
Zlotogora-Ogur syndrome 		0.730 Biomarker GENOMICS_ENGLAND Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. 10932188

2000
Entrez Id: 5818
Gene Symbol: NECTIN1
NECTIN1
CUI: C2931488
Disease: Zlotogora-Ogur syndrome
Zlotogora-Ogur syndrome 		0.730 Biomarker GENOMICS_ENGLAND Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela. 11559849

2001
Entrez Id: 5818
Gene Symbol: NECTIN1
NECTIN1
CUI: C2931488
Disease: Zlotogora-Ogur syndrome
Zlotogora-Ogur syndrome 		0.730 Biomarker GENOMICS_ENGLAND Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. 10932188

2000
Entrez Id: 526
Gene Symbol: ATP6V1B2
ATP6V1B2
CUI: C0796013
Disease: Zimmerman Laband syndrome
Zimmerman Laband syndrome 		0.610 Biomarker GENOMICS_ENGLAND We also identified a recurrent de novo missense change in ATP6V1B2, encoding the B2 subunit of the multimeric vacuolar H(+) ATPase, in two individuals with ZLS. 25915598

2015
Entrez Id: 526
Gene Symbol: ATP6V1B2
ATP6V1B2
CUI: C0796013
Disease: Zimmerman Laband syndrome
Zimmerman Laband syndrome 		0.610 Biomarker GENOMICS_ENGLAND We also identified a recurrent de novo missense change in ATP6V1B2, encoding the B2 subunit of the multimeric vacuolar H(+) ATPase, in two individuals with ZLS. 25915598

2015
Entrez Id: 3782
Gene Symbol: KCNN3
KCNN3
CUI: C0796013
Disease: Zimmerman Laband syndrome
Zimmerman Laband syndrome 		0.510 Biomarker GENOMICS_ENGLAND Analogous experiments with the KCNN3 p.Val450Leu mutant previously identified in a family with portal hypertension indicated basal constitutive channel activity and thus a different gain-of-function mechanism compared to the ZLS-associated mutant channels. 31155282

2019
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		0.710 Biomarker GENOMICS_ENGLAND

Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		0.710 Biomarker GENOMICS_ENGLAND De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. 27545680

2016
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		0.710 Biomarker GENOMICS_ENGLAND

Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.800 Biomarker GENOMICS_ENGLAND Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 9398847

1997
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.800 Biomarker GENOMICS_ENGLAND Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. 9398848

1997
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.560 Biomarker GENOMICS_ENGLAND

Entrez Id: 8504
Gene Symbol: PEX3
PEX3
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.560 Biomarker GENOMICS_ENGLAND

Entrez Id: 9409
Gene Symbol: PEX16
PEX16
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.540 Biomarker GENOMICS_ENGLAND Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene. 20647552

2010
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.540 Biomarker GENOMICS_ENGLAND

Entrez Id: 9409
Gene Symbol: PEX16
PEX16
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.540 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.530 Biomarker GENOMICS_ENGLAND

Entrez Id: 5195
Gene Symbol: PEX14
PEX14
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.520 Biomarker GENOMICS_ENGLAND

Entrez Id: 5192
Gene Symbol: PEX10
PEX10
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.520 Biomarker GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951

2015
Entrez Id: 55670
Gene Symbol: PEX26
PEX26
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.510 Biomarker GENOMICS_ENGLAND

Entrez Id: 5824
Gene Symbol: PEX19
PEX19
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.500 Biomarker GENOMICS_ENGLAND