Source: INFERRED

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: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.447 0.828 1.7E-20
Xeroderma Pigmentosum, Complementation Group D
disease 0.900 0.921 10 0 1986 2015
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.447 0.828 1.7E-20
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
disease 0.700 0.896 6 0 1989 2016
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.447 0.828 1.7E-20
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
disease 0.700 1.000 0 0 2002 2017
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.447 0.828 1.7E-20
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy
disease 0.600 5 0 1994 2015
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.447 0.828 1.7E-20
Cerebrooculofacioskeletal Syndrome 2
disease 0.600 1 0 2001 2001
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.447 0.828 1.7E-20
CUI: C0025202
Disease: melanoma
melanoma
disease 0.500 1.000 0 0 2001 2016
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.447 0.828 1.7E-20
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease 0.440 1.000 0 0 2004 2013
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.447 0.828 1.7E-20
Cerebrooculofacioskeletal Syndrome 1
disease 0.430 1.000 0 0 2001 2016
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.447 0.828 1.7E-20
CUI: C0086543
Disease: Cataract
Cataract
disease 0.420 strong 1.000 0 0 2015 2016
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.447 0.828 1.7E-20
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma
disease 0.410 0 0 2006 2006
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.447 0.828 1.7E-20
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 strong 1.000 0 0 1995 1995
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.447 0.828 1.7E-20
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
disease 0.200 0.897 1 0 2001 2014
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.447 0.828 1.7E-20
CUI: C0263490
Disease: Brittle hair
Brittle hair
disease 0.150 1.000 0 0 1995 1999
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.447 0.828 1.7E-20
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis
group 0.120 1.000 0 0 2003 2007
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.447 0.828 1.7E-20
CUI: C0085636
Disease: Photophobia
Photophobia
phenotype 0.110 1.000 0 0 2002 2002
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.447 0.828 1.7E-20
Sensorineural Hearing Loss (disorder)
disease 0.110 1.000 0 0 2014 2014
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.447 0.828 1.7E-20
CUI: C0041834
Disease: Erythema
Erythema
phenotype 0.110 1.000 0 0 2013 2013
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.447 0.828 1.7E-20
CUI: C0009918
Disease: Contracture of joint
Contracture of joint
phenotype 0.110 1.000 0 0 2014 2014
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.447 0.828 1.7E-20
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease 0.110 1.000 0 0 1995 1995
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.447 0.828 1.7E-20
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 11 0 1994 2017
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.447 0.828 1.7E-20
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
phenotype 0.100 1 0 2012 2012
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.447 0.828 1.7E-20
Metachromatic leukodystrophy variant
disease 0.100 1 0 2015 2015
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.447 0.828 1.7E-20
CUI: C1854919
Disease: Severe psychomotor retardation
Severe psychomotor retardation
phenotype 0.100 0 0
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.447 0.828 1.7E-20
CUI: C1853246
Disease: Everted lower lip vermilion
Everted lower lip vermilion
phenotype 0.100 0 0
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.447 0.828 1.7E-20
CUI: C1843392
Disease: Death in childhood
Death in childhood
phenotype 0.100 0 0