Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 347344
Gene Symbol: ZNF81
ZNF81
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker CLINGEN

Entrez Id: 7552
Gene Symbol: ZNF711
ZNF711
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker CLINGEN Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD). 21384559

2011
Entrez Id: 7552
Gene Symbol: ZNF711
ZNF711
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker CLINGEN A maternally inherited 8.05 Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient. 28630650

2017
Entrez Id: 7552
Gene Symbol: ZNF711
ZNF711
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker CLINGEN Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability. 27993705

2017
Entrez Id: 7552
Gene Symbol: ZNF711
ZNF711
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker CLINGEN A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 19377476

2009
Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		1.000 Biomarker CLINGEN Mowat-Wilson Syndrome is a recently delineated mental retardation syndrome usually associated with multiple malformations and a recognizable facial phenotype caused by defects of the transcriptional repressor ZFHX1B. 16053902

2005
Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		1.000 Biomarker CLINGEN These results demonstrate the advantages of using de novo Zeb2 Δex7/+ mice with the C57BL/6 background as the MOWS model. 26319231

2015
Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		1.000 Biomarker CLINGEN Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23. 9719364

1998
Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		1.000 Biomarker CLINGEN Neural crest-specific removal of Zfhx1b in mouse leads to a wide range of neurocristopathies reminiscent of Mowat-Wilson syndrome. 17478475

2007
Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		1.000 Biomarker CLINGEN A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype. 16688751

2006
Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		1.000 Biomarker CLINGEN Zfhx1b induces a definitive neural stem cell fate in mouse embryonic stem cells. 22594450

2012
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.300 Biomarker CLINGEN Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer. 25058500

2015
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C1112155
Disease: Hereditary non-polyposis colorectal cancer syndrome
Hereditary non-polyposis colorectal cancer syndrome 		0.300 Biomarker CLINGEN Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer. 25058500

2015
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.300 Biomarker CLINGEN Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer. 25058500

2015
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.300 Biomarker CLINGEN Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer. 25058500

2015
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.300 Biomarker CLINGEN Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer. 25058500

2015
Entrez Id: 7516
Gene Symbol: XRCC2
XRCC2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.530 Biomarker CLINGEN Homologous recombination deficiency leads to profound genetic instability in cells derived from Xrcc2-knockout mice. 14678973

2003
Entrez Id: 7516
Gene Symbol: XRCC2
XRCC2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.530 Biomarker CLINGEN Xrcc2 is required for genetic stability, embryonic neurogenesis and viability in mice. 11118202

2000
Entrez Id: 7516
Gene Symbol: XRCC2
XRCC2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.530 Biomarker CLINGEN Rare mutations in XRCC2 increase the risk of breast cancer. 22464251

2012
Entrez Id: 7516
Gene Symbol: XRCC2
XRCC2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.530 Biomarker CLINGEN The XRCC2 and XRCC3 repair genes are required for chromosome stability in mammalian cells. 10422536

1999
Entrez Id: 7508
Gene Symbol: XPC
XPC
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		1.000 Biomarker CLINGEN A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor. 11511294

2001
Entrez Id: 7508
Gene Symbol: XPC
XPC
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		1.000 Biomarker CLINGEN Clinical utility gene card for: Xeroderma pigmentosum. 24105368

2014
Entrez Id: 7508
Gene Symbol: XPC
XPC
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		1.000 Biomarker CLINGEN These results extend our previous observations and indicate that defects in XPCC cause Xeroderma pigmentosum group C. 8298653

1993
Entrez Id: 7508
Gene Symbol: XPC
XPC
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		1.000 Biomarker CLINGEN Mutational inactivation of the xeroderma pigmentosum group C gene confers predisposition to 2-acetylaminofluorene-induced liver and lung cancer and to spontaneous testicular cancer in Trp53-/- mice. 10029060

1999
Entrez Id: 7508
Gene Symbol: XPC
XPC
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		1.000 Biomarker CLINGEN High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis. 19478817

2009