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GENE - TERM ANNOTATION REPORT
1 Annotations Found.
An association has been curated linking
Col7a1
and
recessive dystrophic epidermolysis bullosa
in Chinchilla lanigera.
The association was
inferred from sequence orthology
(ISO)
The annotation was made from
RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred from sequence orthology with
COL7A1 (Homo sapiens)
[(IAGP) inferred by association of genotype and phenotype]
2
RGD objects have been annotated to
recessive dystrophic epidermolysis bullosa
(DOID:0060642)
2
papers in RGD have been used to annotate
Col7a1
Curation Notes: ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica inversa, autosomal recessive | ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa
Original References(s):
PMID:10084325
PMID:10367729
PMID:10383749
PMID:10408773
PMID:10469344
PMID:1050445
PMID:10504458
PMID:10583163
PMID:10836608
PMID:10944088
PMID:11000732
PMID:11167698
PMID:11378329
PMID:11722462
PMID:11781296
PMID:11843659
PMID:11874498
PMID:12207583
PMID:12485454
PMID:12653705
PMID:12735646
PMID:12787275
PMID:12813757
PMID:15509587
PMID:15816848
PMID:15888141
PMID:16189623
PMID:16199547
PMID:16271705
PMID:16439963
PMID:16484981
PMID:16965329
PMID:16971478
PMID:17425959
PMID:17495952
PMID:17501948
PMID:17576681
PMID:17916216
PMID:18030675
PMID:18414213
PMID:18429782
PMID:18440202
PMID:18450758
PMID:18558993
PMID:18565177
PMID:18951764
PMID:19197535
PMID:19344236
PMID:19439919
PMID:19643583
PMID:19665875
PMID:19681861
PMID:19694003
PMID:19694005
PMID:20184583
PMID:20357813
PMID:20555349
PMID:20598510
PMID:20920254
PMID:21113014
PMID:21124339
PMID:21382783
PMID:21448560
PMID:21471992
PMID:22058051
PMID:22209565
PMID:22266148
PMID:23237810
PMID:23786535
PMID:23947675
PMID:24032424
PMID:24033266
PMID:24210835
PMID:24213372
PMID:24252097
PMID:24279917
PMID:24317394
PMID:24599399
PMID:24947307
PMID:25155989
PMID:25284350
PMID:25525159
PMID:25741868
PMID:26076072
PMID:26102279
PMID:26143532
PMID:26148662
PMID:26446410
PMID:26467025
PMID:26612796
PMID:26707537
PMID:26763448
PMID:26833212
PMID:26864810
PMID:27153395
PMID:27408687
PMID:27544590
PMID:27746867
PMID:27899325
PMID:28492532
PMID:28830826
PMID:29130490
PMID:29229433
PMID:29334134
PMID:29473190
PMID:29500833
PMID:29512197
PMID:29531004
PMID:30280950
PMID:31001817
PMID:31634165
PMID:31670143
PMID:31786163
PMID:31930626
PMID:32484238
PMID:32860008
PMID:33274474
PMID:33502061
PMID:34230977
PMID:34435747
PMID:34826142
PMID:35979658
PMID:36287101
PMID:36430820
PMID:7577595
PMID:7695699
PMID:7833933
PMID:7883979
PMID:8037207
PMID:8088783
PMID:8218237
PMID:8345225
PMID:8513326
PMID:8592061
PMID:8618004
PMID:8644729
PMID:8644730
PMID:8755915
PMID:8900535
PMID:9215684
PMID:9242516
PMID:9326325
PMID:9347800
PMID:9536098
PMID:9666834
PMID:9668111
PMID:9740253
PMID:9804332
PMID:9856844
PMID:9881948
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