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GENE - TERM ANNOTATION REPORT

RGD ID: 1319264
Species: Homo sapiens
RGD Object: Gene
Symbol: ERCC2
Name: ERCC excision repair 2, TFIIH core complex helicase subunit
Acc ID: DOID:0080912
Term: cerebrooculofacioskeletal syndrome 2
Definition: A cerebrooculofacioskeletal syndrome that has_material_basis_in compound heterozygous mutation in the DNA repair gene XPD (ERCC2) on chromosome 19q13. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/11443545/ "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
ERCC2 IAGP 1601070RGDDNA:missense mutations:p.R616W, p.D681N (human) 
ERCC2 IAGP 7240710OMIM  
ERCC2 EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
ERCC2 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2PMID:24033266 PMID:25741868 PMID:28492532
ERCC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2PMID:18510924 PMID:18510925 PMID:22826098 PMID:23800062 PMID:24418926 PMID:25431422 PMID:25741868 PMID:28492532 PMID:29169765 PMID:32047639 PMID:9238033
ERCC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2PMID:15534626 PMID:16054878 PMID:18709642 PMID:25741868 PMID:28492532
ERCC2 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2PMID:25741868
ERCC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2PMID:11335038 PMID:16199547 PMID:19085937 PMID:19934020 PMID:25741868 PMID:28492532 PMID:7585650 PMID:9238033
ERCC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2PMID:11443545 PMID:11710928 PMID:11734544 PMID:12820975 PMID:18637129 PMID:22234153 PMID:22826098 PMID:23221806 PMID:23800062 PMID:24033266 PMID:24252196 PMID:24448499 PMID:25741868 PMID:26556299 PMID:26884178 PMID:27004399 PMID:27396511 PMID:28492532 PMID:29478780 PMID:7585650 PMID:7920640 PMID:8571952 PMID:9238033
ERCC2 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2PMID:25741868 PMID:28492532
ERCC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2PMID:18510925 PMID:18578568 PMID:23221806 PMID:23382212 PMID:25741868 PMID:26957611 PMID:28492532 PMID:33199492 PMID:9758621
ERCC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 PMID:7920640 PMID:9536098
ERCC2 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2PMID:25741868 PMID:28492532 PMID:31282071 PMID:31803976
ERCC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2PMID:10447254 PMID:18470933 PMID:25741868 PMID:28492532 PMID:30919937 PMID:7920640
ERCC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2PMID:11335038 PMID:11734544 PMID:16199547 PMID:19085937 PMID:19934020 PMID:25741868 PMID:28492532 PMID:29754767 PMID:34308104 PMID:35477182 PMID:36033485 PMID:9238033
ERCC2 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2PMID:11335038 PMID:16199547 PMID:19085937 PMID:19934020 PMID:25741868 PMID:28492532 PMID:9238033
ERCC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2PMID:11335038 PMID:19085937 PMID:19934020 PMID:25741868 PMID:28492532 PMID:7825573 PMID:9238033
ERCC2 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2PMID:11335038 PMID:19085937 PMID:19934020 PMID:25741868 PMID:28492532 PMID:9238033
ERCC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2PMID:11335038 PMID:19085937 PMID:19934020 PMID:25741868 PMID:26993158 PMID:28492532 PMID:9101292 PMID:9238033
ERCC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2PMID:11335038 PMID:16199547 PMID:19085937 PMID:19934020 PMID:25741868 PMID:28492532 PMID:32191290 PMID:9238033
ERCC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2 
ERCC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2PMID:12116233 PMID:16135823 PMID:25716912 PMID:25741868 PMID:27607234 PMID:28492532 PMID:29141312
ERCC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2PMID:11585917 PMID:12820975 PMID:23039039 PMID:25431422 PMID:25741868 PMID:28492532 PMID:8571952 PMID:9238033
ERCC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2PMID:25741868 PMID:28492532 PMID:32830346
ERCC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2PMID:11335038 PMID:19085937 PMID:19934020 PMID:25741868 PMID:26884178 PMID:28492532 PMID:9238033
ERCC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2PMID:11335038 PMID:19085937 PMID:19934020 PMID:25741868 PMID:28492532 PMID:32047639 PMID:9238033
ERCC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2PMID:11335038 PMID:16199547 PMID:19085937 PMID:19934020 PMID:25741868 PMID:28492532 PMID:31282071 PMID:9238033
ERCC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2PMID:25741868 PMID:27504877 PMID:28492532 PMID:31937902 PMID:33095795
ERCC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2PMID:23800062 PMID:25431422 PMID:25741868 PMID:28492532 PMID:32974964 PMID:3341805 PMID:9238033
ERCC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2PMID:12820975 PMID:25431422 PMID:25741868 PMID:28492532 PMID:7825573
ERCC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2PMID:23232694 PMID:25002996 PMID:25741868 PMID:28492532 PMID:9195225
ERCC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2PMID:17576681 PMID:18470933 PMID:25741868 PMID:28492532 PMID:7920640 PMID:9536098
ERCC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2PMID:11443545 PMID:22234153 PMID:22826098 PMID:23800062 PMID:25741868 PMID:27396511 PMID:28492532 PMID:9238033
ERCC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2PMID:23232694 PMID:24514865 PMID:25002996 PMID:25741868 PMID:26577220 PMID:28492532 PMID:9195225
ERCC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2PMID:11709541 PMID:25431422 PMID:25741868 PMID:28492532 PMID:7920640 PMID:9758621
ERCC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2PMID:11242112 PMID:11585917 PMID:12820975 PMID:25431422 PMID:25741868 PMID:28492532 PMID:8571952 PMID:9238033
ERCC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2PMID:11156600 PMID:11443545 PMID:18470933 PMID:22234153 PMID:23232694 PMID:23800062 PMID:25741868 PMID:28492532 PMID:28749383
ERCC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2PMID:11443545 PMID:11710928 PMID:11734544 PMID:12820975 PMID:22234153 PMID:23221806 PMID:23800062 PMID:25431422 PMID:25741868 PMID:27396511 PMID:28492532 PMID:7920640 PMID:9238033
ERCC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2PMID:19931493 PMID:20944642 PMID:23039039 PMID:23232694 PMID:24033266 PMID:25620205 PMID:25741868 PMID:28492532 PMID:31282071 PMID:31803976 PMID:7920640 PMID:8571952 PMID:9238033 PMID:9651581
ERCC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2PMID:15494306 PMID:18510925 PMID:18637129 PMID:19934020 PMID:22826098 PMID:24418926 PMID:25620205 PMID:25741868 PMID:26884178 PMID:28492532 PMID:29169765 PMID:7585650 PMID:8571952 PMID:9238033
ERCC2 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2PMID:24728327 PMID:25741868 PMID:28492532
ERCC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2PMID:11335038 PMID:11709541 PMID:19085937 PMID:19934020 PMID:20633800 PMID:24728327 PMID:25741868 PMID:27504877 PMID:28492532 PMID:9238033
ERCC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2PMID:24728327 PMID:25741868 PMID:26344056 PMID:28492532
ERCC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2PMID:15982307 PMID:22234153 PMID:23221806 PMID:23232694 PMID:24728327 PMID:25716912 PMID:25741868 PMID:26884178 PMID:27504877 PMID:28492532 PMID:29607586 PMID:7585650 PMID:8571952 PMID:9195225 PMID:9238033
ERCC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2PMID:19434073 PMID:19470925 PMID:24033266 PMID:24728327 PMID:25741868 PMID:28492532
ERCC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2PMID:24033266 PMID:24728327 PMID:25741868 PMID:28492532
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