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 0.420 0.846 7.1E-20
Xeroderma Pigmentosum, Complementation Group D
disease 1.000 definitive 0.935 12 13 1977 2017
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes
disease 0.900 strong 0.986 0 1 1992 2020
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
disease 0.700 None 1.000 0 0 2002 2018
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
Cerebrooculofacioskeletal Syndrome 2
disease 0.700 None 1.000 0 6 1997 2001
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy
disease 0.700 None 1.000 0 8 1977 2001
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C0025202
Disease: melanoma
melanoma
disease 0.500 None 0.938 0 0 2001 2019
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
Cerebrooculofacioskeletal Syndrome 1
disease 0.430 None 1.000 0 3 2001 2015
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
disease 0.400 None 0.986 1 1 1992 2019
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
disease 0.200 None 0.965 1 1 2001 2019
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
disease 0.170 None 0.857 0 0 1999 2014
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis
disease 0.120 None 1.000 0 0 2003 2007
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C0263490
Disease: Brittle hair
Brittle hair
disease 0.120 None 1.000 0 0 1995 1998
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C0027947
Disease: Neutropenia
Neutropenia
disease 0.120 None 1.000 0 0 2007 2010
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C0086543
Disease: Cataract
Cataract
disease 0.120 None 1.000 0 0 2015 2015
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C0041834
Disease: Erythema
Erythema
phenotype 0.110 None 1.000 0 0 2012 2012
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C0085636
Disease: Photophobia
Photophobia
phenotype 0.110 None 1.000 0 0 2002 2002
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
Sensorineural Hearing Loss (disorder)
disease 0.110 None 1.000 0 0 2013 2013
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.110 None 1.000 0 0 1995 1995
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease 0.110 None 1.000 0 0 1997 1997
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
disease 0.110 None 1.000 0 0 2012 2012
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus
disease 0.110 None 1.000 0 0 2004 2004
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
phenotype 0.100 None 1.000 1 1 2012 2012
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C1845847
Disease: Coarse facial features
Coarse facial features
phenotype 0.100 None 0 0
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 0 0
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay
phenotype 0.100 None 0 0