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: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.420 None 1.000 0 0 2000 2016
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		disease 0.400 None 1.000 0 0 2008 2008
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		disease 0.400 None 1.000 0 0 2000 2000
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C0086543
Disease: Cataract
Cataract 		disease 0.400 None 1.000 0 0 2008 2008
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease 0.130 None 1.000 0 0 2012 2018
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group 0.120 None 1.000 0 0 2015 2016
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease 0.110 None 1.000 0 0 2013 2013
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.110 None 1.000 0 0 2013 2013
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C1837770
Disease: Sparse hair
Sparse hair 		phenotype 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		phenotype 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C1837767
Disease: Loss of facial adipose tissue
Loss of facial adipose tissue 		phenotype 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C1849538
Disease: Delayed eruption of primary teeth
Delayed eruption of primary teeth 		phenotype 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C1843392
Disease: Death in childhood
Death in childhood 		phenotype 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C1857640
Disease: Decreased nerve conduction velocity
Decreased nerve conduction velocity 		phenotype 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C1857638
Disease: Patchy demyelination of subcortical white matter
Patchy demyelination of subcortical white matter 		phenotype 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility 		phenotype 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C1855514
Disease: Severe failure to thrive
Severe failure to thrive 		phenotype 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip 		phenotype 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C1851431
Disease: Cerebellar calcifications
Cerebellar calcifications 		phenotype 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C1851430
Disease: Subcortical white matter calcifications
Subcortical white matter calcifications 		phenotype 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C1849953
Disease: Square pelvis bone
Square pelvis bone 		disease 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		phenotype 0.100 None 0 0