Source: CLINGEN

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 347344
Gene Symbol: ZNF81
ZNF81 		zinc finger protein 81 0.705 0.385 0.55
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		disease 0.300 disputed 0 0
Entrez Id: 7552
Gene Symbol: ZNF711
ZNF711 		zinc finger protein 711 0.691 0.423 0.98
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		disease 0.300 limited 1.000 4 0 2009 2017
Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2 		zinc finger E-box binding homeobox 2 0.471 0.808 1.00
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		disease 1.000 definitive 1.000 6 0 1991 2019
Entrez Id: 7508
Gene Symbol: XPC
XPC 		XPC complex subunit, DNA damage recognition and repair factor 0.504 0.808 3.7E-11
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		disease 1.000 definitive 0.987 7 0 1989 2019
Entrez Id: 7507
Gene Symbol: XPA
XPA 		XPA, DNA damage recognition and repair factor 0.520 0.846 7.9E-05
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		disease 1.000 definitive 0.968 7 0 1978 2019
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4 		X-ray repair cross complementing 4 0.528 0.769 8.3E-07
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		group 0.300 limited 1.000 1 0 2015 2015
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4 		X-ray repair cross complementing 4 0.528 0.769 8.3E-07
CUI: C1112155
Disease: Hereditary non-polyposis colorectal cancer syndrome
Hereditary non-polyposis colorectal cancer syndrome 		disease 0.300 limited 1.000 1 0 2015 2015
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4 		X-ray repair cross complementing 4 0.528 0.769 8.3E-07
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		disease 0.300 limited 1.000 1 0 2015 2015
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4 		X-ray repair cross complementing 4 0.528 0.769 8.3E-07
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		disease 0.300 limited 1.000 1 0 2015 2015
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4 		X-ray repair cross complementing 4 0.528 0.769 8.3E-07
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		disease 0.300 limited 1.000 1 0 2015 2015
Entrez Id: 7516
Gene Symbol: XRCC2
XRCC2 		X-ray repair cross complementing 2 0.512 0.731 4.0E-07
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.530 limited 1.000 4 0 1999 2019
Entrez Id: 23558
Gene Symbol: WBP2
WBP2 		WW domain binding protein 2 0.722 0.269 0.35
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		disease 0.300 limited 1.000 1 0 2016 2016
Entrez Id: 7486
Gene Symbol: WRN
WRN 		WRN RecQ like helicase 0.524 0.808 2.6E-34
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		disease 1.000 definitive 0.952 7 0 1993 2019
Entrez Id: 7466
Gene Symbol: WFS1
WFS1 		wolframin ER transmembrane glycoprotein 0.528 0.846 1.6E-38
CUI: C3280358
Disease: Wolfram-Like Syndrome, Autosomal Dominant
Wolfram-Like Syndrome, Autosomal Dominant 		disease 0.710 definitive 1.000 11 0 1998 2018
Entrez Id: 7466
Gene Symbol: WFS1
WFS1 		wolframin ER transmembrane glycoprotein 0.528 0.846 1.6E-38
CUI: C4518338
Disease: Wolfram-like syndrome
Wolfram-like syndrome 		disease 0.320 definitive 1.000 11 0 2001 2018
Entrez Id: 7466
Gene Symbol: WFS1
WFS1 		wolframin ER transmembrane glycoprotein 0.528 0.846 1.6E-38
CUI: C0043207
Disease: Wolfram Syndrome
Wolfram Syndrome 		disease 0.900 definitive 0.973 8 0 1999 2019
Entrez Id: 25861
Gene Symbol: WHRN
WHRN 		whirlin 0.670 0.385 7.7E-05
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		group 0.500 definitive 1.000 9 0 2003 2017
Entrez Id: 25861
Gene Symbol: WHRN
WHRN 		whirlin 0.670 0.385 7.7E-05
CUI: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II 		disease 0.940 definitive 1.000 9 0 2003 2017
Entrez Id: 25861
Gene Symbol: WHRN
WHRN 		whirlin 0.670 0.385 7.7E-05
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease 0.320 moderate 1.000 6 0 2003 2017
Entrez Id: 55135
Gene Symbol: WRAP53
WRAP53 		WD repeat containing antisense to TP53 0.603 0.692 5.4E-05
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		disease 0.650 moderate 1.000 4 0 2010 2019
Entrez Id: 7454
Gene Symbol: WAS
WAS 		WASP actin nucleation promoting factor 0.529 0.808 1.00
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		disease 1.000 definitive 0.987 7 0 1994 2020
Entrez Id: 23355
Gene Symbol: VPS8
VPS8 		VPS8 subunit of CORVET complex 1.000 0.077 5.1E-08
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		disease 0.500 limited 1.000 3 0 1996 2016
Entrez Id: 7428
Gene Symbol: VHL
VHL 		von Hippel-Lindau tumor suppressor 0.443 0.846 8.0E-02
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		disease 0.300 definitive 1.000 12 0 1991 2011
Entrez Id: 7414
Gene Symbol: VCL
VCL 		vinculin 0.575 0.654 4.7E-02
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.440 limited 1.000 3 0 2006 2019
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B 		vacuolar protein sorting 13 homolog B 0.579 0.769 2.5E-45
CUI: C1854061
Disease: Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness 		phenotype 0.300 definitive 1.000 8 0 2003 2018