Source: HPO

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
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
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
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: 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: 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: 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: 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: 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
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: 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: C0018784
Disease: Sensorineural Hearing Loss (disorder)
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: C1384666
Disease: hearing impairment
hearing impairment 		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: C1846149
Disease: Intellectual disability, progressive
Intellectual disability, progressive 		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: C1527344
Disease: Dysphonia
Dysphonia 		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: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		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: C1328587
Disease: Panhypogammaglobulinemia
Panhypogammaglobulinemia 		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: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch 		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: C1328440
Disease: Abnormality of amino acid metabolism
Abnormality of amino acid metabolism 		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: C1387005
Disease: Penis agenesis
Penis agenesis 		disease 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: C1836830
Disease: Developmental regression
Developmental regression 		disease 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: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule 		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: C1837770
Disease: Sparse hair
Sparse hair 		phenotype 0.100 None 0 0