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GENE - TERM ANNOTATION REPORT
RGD ID:
11027
Species:
Mus musculus
RGD Object:
Gene
Symbol:
Oca2
Name:
oculocutaneous albinism II
Acc ID:
DOID:0070096
Term:
oculocutaneous albinism type II
Definition:
An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA2 gene on chromosome 15q12-q13. (DO)
Definition Source(s):
https://www.ncbi.nlm.nih.gov/pubmed/18680187
"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 Symbol
Qualifier
Evidence
With
Reference
Source
Notes
Original Reference(s)
Oca2
ISO
OCA2 (Homo sapiens)
9491820
RGD
DNA:deletion:exon:699-?-859+?del (human)
Oca2
ISO
OCA2 (Homo sapiens)
9491821
RGD
DNA:missense mutation:cds:p.G775D (human)
Oca2
ISO
OCA2 (Homo sapiens)
9491830
RGD
DNA:snps:cds, intron:p.N486Y, c.1045-15T>G (human)
Oca2
ISO
OCA2 (Homo sapiens)
9491836
RGD
DNA:deletion:exons, introns:IVS9+13636-IVS20-6592del (human)
Oca2
ISO
OCA2 (Homo sapiens)
7240710
OMIM
Oca2
ISO
OCA2 (Homo sapiens)
11554173
CTD
CTD Direct Evidence: marker/mechanism
Oca2
ISO
OCA2 (Homo sapiens)
8554872
ClinVar
ClinVar Annotator: match by term: OCA2-related condition | ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism
PMID:10094567
PMID:10649493
PMID:10671067
PMID:10905897
PMID:10987646
PMID:11179026
PMID:11464238
PMID:12163334
PMID:12469324
PMID:12687678
PMID:12713581
PMID:12876664
PMID:15173252
PMID:15712365
PMID:15889046
PMID:15942220
PMID:16199547
PMID:17160937
PMID:17236130
PMID:17385796
PMID:17568986
PMID:17576681
PMID:1773534
PMID:17767372
PMID:17960121
PMID:18252222
PMID:18326704
PMID:18463683
PMID:18683130
PMID:18821858
PMID:19060277
PMID:19865097
PMID:20019752
PMID:20301410
PMID:20426782
PMID:20806075
PMID:20861488
PMID:21085994
PMID:21458243
PMID:21541274
PMID:22734612
PMID:23010199
PMID:23103111
PMID:23504663
PMID:23744323
PMID:23824587
PMID:24033266
PMID:24118800
PMID:24361966
PMID:24518832
PMID:24845642
PMID:25060099
PMID:25412400
PMID:25455140
PMID:25513726
PMID:25741868
PMID:25809079
PMID:25919014
PMID:26165494
PMID:26474496
PMID:26818737
PMID:27231233
PMID:27468418
PMID:27734839
PMID:27887888
PMID:28041643
PMID:28224992
PMID:28266639
PMID:28451379
PMID:28492532
PMID:28667292
PMID:28726809
PMID:28976636
PMID:29036293
PMID:29050284
PMID:29095814
PMID:29345414
PMID:29437493
PMID:30025130
PMID:30414346
PMID:30835348
PMID:31077556
PMID:31141302
PMID:31196117
PMID:31229681
PMID:31429209
PMID:31719542
PMID:31813138
PMID:32741191
PMID:32783370
PMID:32830442
PMID:32969595
PMID:33050356
PMID:33124154
PMID:33612058
PMID:33974259
PMID:34707637
PMID:34838614
PMID:35393538
PMID:36116698
PMID:37321975
PMID:37650133
PMID:7762554
PMID:7874125
PMID:7920637
PMID:8302318
PMID:8980282
PMID:9259203
PMID:9536098
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