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GENE - TERM ANNOTATION REPORT

RGD ID: 8826247
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Col7a1
Name: collagen type VII alpha 1 chain
Acc ID: DOID:0080224
Term: autosomal dominant dystrophic epidermolysis bullosa
Definition: An epidermolysis bullosa dystrophica that is characterized by recurrent blistering at the level of the lamina densa secondary to minor trauma, limited to the nails, hands, feet, knees, and elbows, and has_material_basis_in autosomal dominant inheritance of mutation in the COL7A1 gene, which encodes a protein that assists assembly of type VII collagen. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa#genes "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)
Col7a1 ISOCOL7A1 (Homo sapiens)7240710OMIM  
Col7a1 ISOCOL7A1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal dominantPMID:10084325 PMID:10232408 PMID:10233777 PMID:10383749 PMID:10408773 PMID:10469344 PMID:10504458 PMID:10836608 PMID:11781296 PMID:11874498 PMID:11952672 PMID:12485454 PMID:12735646 PMID:12787275 PMID:12813757 PMID:14616374 PMID:15816848 PMID:15888141 PMID:16189623 PMID:16271705 PMID:16484981 PMID:16557343 PMID:1680286 PMID:16965329 PMID:16971478 PMID:17336503 PMID:17425959 PMID:17576681 PMID:18429782 PMID:18440202 PMID:18951764 PMID:19197535 PMID:19344236 PMID:19665875 PMID:19681861 PMID:20357813 PMID:20598510 PMID:20920254 PMID:21269315 PMID:21448560 PMID:21471992 PMID:22058051 PMID:22266148 PMID:23237810 PMID:23786535 PMID:23947675 PMID:24032424 PMID:24033266 PMID:24210835 PMID:24317394 PMID:24794830 PMID:24947307 PMID:25741868 PMID:26076072 PMID:26102279 PMID:26148662 PMID:26467025 PMID:26763448 PMID:26864810 PMID:27153395 PMID:27899325 PMID:28492532 PMID:28830826 PMID:29473190 PMID:29963685 PMID:30280950 PMID:31001817 PMID:31709745 PMID:31930626 PMID:32860008 PMID:35979658 PMID:7577595 PMID:7695699 PMID:7833933 PMID:7861014 PMID:8088783 PMID:8170945 PMID:8218237 PMID:8288900 PMID:8345225 PMID:8618004 PMID:8644729 PMID:8755915 PMID:9215684 PMID:9242516 PMID:9326325 PMID:9347800 PMID:9536098 PMID:9666834 PMID:9668111 PMID:9804332 PMID:9856843 PMID:9856844 PMID:9881948 PMID:9892921
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