Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.340 Biomarker GENOMICS_ENGLAND

Entrez Id: 8800
Gene Symbol: PEX11A
PEX11A
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.300 Biomarker GENOMICS_ENGLAND PEX11 promotes peroxisome division independently of peroxisome metabolism. 11839773

2002
Entrez Id: 8800
Gene Symbol: PEX11A
PEX11A
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.300 Biomarker GENOMICS_ENGLAND Peroxisomes in cardiomyocytes and the peroxisome / peroxisome proliferator-activated receptor-loop. 25608554

2015
Entrez Id: 9409
Gene Symbol: PEX16
PEX16
CUI: C3658299
Disease: Zellweger Spectrum
Zellweger Spectrum 		0.500 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 9409
Gene Symbol: PEX16
PEX16
CUI: C3658299
Disease: Zellweger Spectrum
Zellweger Spectrum 		0.500 Biomarker GENOMICS_ENGLAND Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene. 20647552

2010
Entrez Id: 7535
Gene Symbol: ZAP70
ZAP70
CUI: C2931299
Disease: ZAP70 deficiency
ZAP70 deficiency 		0.730 Biomarker GENOMICS_ENGLAND

Entrez Id: 9896
Gene Symbol: FIG4
FIG4
CUI: C1857663
Disease: Yunis Varon syndrome
Yunis Varon syndrome 		0.980 Biomarker GENOMICS_ENGLAND Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. 17572665

2007
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
CUI: C1857663
Disease: Yunis Varon syndrome
Yunis Varon syndrome 		0.980 Biomarker GENOMICS_ENGLAND Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. 23623387

2013
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
CUI: C1857663
Disease: Yunis Varon syndrome
Yunis Varon syndrome 		0.980 Biomarker GENOMICS_ENGLAND Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. 23623387

2013
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome 		0.790 Biomarker GENOMICS_ENGLAND

Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome 		0.790 Biomarker GENOMICS_ENGLAND

Entrez Id: 9894
Gene Symbol: TELO2
TELO2
CUI: C4310778
Disease: YOU-HOOVER-FONG SYNDROME
YOU-HOOVER-FONG SYNDROME 		0.700 Biomarker GENOMICS_ENGLAND Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome. 28944240

2017
Entrez Id: 9894
Gene Symbol: TELO2
TELO2
CUI: C4310778
Disease: YOU-HOOVER-FONG SYNDROME
YOU-HOOVER-FONG SYNDROME 		0.700 Biomarker GENOMICS_ENGLAND Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome. 28944240

2017
Entrez Id: 6663
Gene Symbol: SOX10
SOX10
CUI: C1866425
Disease: Yemenite deaf-blind hypopigmentation syndrome
Yemenite deaf-blind hypopigmentation syndrome 		0.330 Biomarker GENOMICS_ENGLAND Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. 17999358

2007
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
CUI: C1970416
Disease: XFE Progeroid Syndrome
XFE Progeroid Syndrome 		0.720 Biomarker GENOMICS_ENGLAND

Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
CUI: C1970416
Disease: XFE Progeroid Syndrome
XFE Progeroid Syndrome 		0.720 Biomarker GENOMICS_ENGLAND Xeroderma pigmentosum. 22044607

2011
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
CUI: C1970416
Disease: XFE Progeroid Syndrome
XFE Progeroid Syndrome 		0.720 Biomarker GENOMICS_ENGLAND

Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
CUI: C1970416
Disease: XFE Progeroid Syndrome
XFE Progeroid Syndrome 		0.720 Biomarker GENOMICS_ENGLAND Xeroderma pigmentosum complementation group F in a non-Japanese patient. 3372781

1988
Entrez Id: 5429
Gene Symbol: POLH
POLH
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		0.940 Biomarker GENOMICS_ENGLAND Variant subtype of xeroderma pigmentosum diagnosed in a 77-year-old woman. 30511002

2018
Entrez Id: 5429
Gene Symbol: POLH
POLH
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		0.940 Biomarker GENOMICS_ENGLAND

Entrez Id: 5429
Gene Symbol: POLH
POLH
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		0.940 Biomarker GENOMICS_ENGLAND Remarkable induction of UV-signature mutations at the 3'-cytosine of dipyrimidine sites except at 5'-TCG-3' in the UVB-exposed skin epidermis of xeroderma pigmentosum variant model mice. 25128761

2014
Entrez Id: 5429
Gene Symbol: POLH
POLH
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		0.940 Biomarker GENOMICS_ENGLAND Three school-age cases of xeroderma pigmentosum variant type. 23651273

2013
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		1.000 Biomarker GENOMICS_ENGLAND Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy. 11228268

2001
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		1.000 Biomarker GENOMICS_ENGLAND In contrast, two sibling XPG patients without CS are able to make full-length XPG, but with a missense mutation that inactivates its function in NER. 9096355

1997
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		1.000 Biomarker GENOMICS_ENGLAND "Effect of the norepinephrine receptor stimulating agent ""clonidine"" on the turnover of 5-hydroxytryptamine in some areas of the rat brain." 1206391

1975