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GENE - TERM ANNOTATION REPORT
6 Annotations Found.
An association has been curated linking
Gjb2
and
Vohwinkel syndrome
in Mus musculus.
The association was
inferred from mutant phenotype
(IMP)
The annotation was made from
Bakirtzis G, etal., Hum Mol Genet. 2003 Jul 15;12(14):1737-44.
2
additional annotations were made from
Bakirtzis G, etal., Hum Mol Genet. 2003 Jul 15;12(14):1737-44.
1
RGD objects have been annotated to
Vohwinkel syndrome
(DOID:0111339)
44
papers in RGD have been used to annotate
Gjb2
An association has been curated linking
Gjb2
and
Vohwinkel syndrome
in Mus musculus.
The association was
inferred from sequence orthology
(ISO)
The annotation was made from
OMIM Disease Annotation Pipeline
The annotation has been inferred from sequence orthology with
GJB2 (Homo sapiens)
[(IAGP) inferred by association of genotype and phenotype]
1
RGD objects have been annotated to
Vohwinkel syndrome
(DOID:0111339)
44
papers in RGD have been used to annotate
Gjb2
An association has been curated linking
Gjb2
and
Vohwinkel syndrome
in Mus musculus.
The association was
inferred from sequence orthology
(ISO)
The annotation was made from
Maestrini E, etal., Hum Mol Genet. 1999 Jul;8(7):1237-43.
The annotation has been inferred from sequence orthology with
GJB2 (Homo sapiens)
[(IAGP) inferred by association of genotype and phenotype]
2
additional annotations were made from
Maestrini E, etal., Hum Mol Genet. 1999 Jul;8(7):1237-43.
1
RGD objects have been annotated to
Vohwinkel syndrome
(DOID:0111339)
44
papers in RGD have been used to annotate
Gjb2
Curation Notes: DNA:mutation:cds:p.D66H(human)
An association has been curated linking
Gjb2
and
Vohwinkel syndrome
in Mus musculus.
The association was
inferred from sequence orthology
(ISO)
The annotation was made from
RGD automated import pipeline for CTD gene-to-disease annotations
The annotation has been inferred from sequence orthology with
GJB2 (Homo sapiens)
[(EXP) inferred from experiment]
1
RGD objects have been annotated to
Vohwinkel syndrome
(DOID:0111339)
44
papers in RGD have been used to annotate
Gjb2
Curation Notes: CTD Direct Evidence: marker/mechanism
An association has been curated linking
Gjb2
and
Vohwinkel syndrome
in Mus musculus.
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
GJB2 (Homo sapiens)
[(IAGP) inferred by association of genotype and phenotype]
1
RGD objects have been annotated to
Vohwinkel syndrome
(DOID:0111339)
44
papers in RGD have been used to annotate
Gjb2
Curation Notes: ClinVar Annotator: match by term: Keratoderma hereditarium mutilans | ClinVar Annotator: match by term: Mutilating keratoderma
Original References(s):
PMID:10049954
PMID:10204859
PMID:102185257
PMID:10218527
PMID:10353784
PMID:10369869
PMID:10376574
PMID:10377081
PMID:10422812
PMID:10477435
PMID:10501520
PMID:10508996
PMID:10544226
PMID:10556284
PMID:10596881
PMID:10607953
PMID:10633133
PMID:10633135
PMID:10713883
PMID:10751669
PMID:10757647
PMID:10782932
PMID:10830906
PMID:10874298
PMID:10903123
PMID:10905664
PMID:10982180
PMID:10982182
PMID:10983956
PMID:11032405
PMID:11073548
PMID:11074495
PMID:11102979
PMID:11134236
PMID:11216656
PMID:11313751
PMID:11313763
PMID:11385713
PMID:11386851
PMID:11438992
PMID:11439000
PMID:11483639
PMID:11493200
PMID:11494963
PMID:11551103
PMID:11551104
PMID:115556849
PMID:11556849
PMID:11584050
PMID:11587277
PMID:11668644
PMID:11698809
PMID:11746015
PMID:11788148
PMID:11807148
PMID:11896458
PMID:11912510
PMID:11918723
PMID:11935342
PMID:11968091
PMID:11977173
PMID:12064630
PMID:12072059
PMID:12081719
PMID:12111646
PMID:12121355
PMID:12167443
PMID:12172392
PMID:12172394
PMID:12176036
PMID:12176179
PMID:1218943
PMID:12189487
PMID:12189493
PMID:12239718
PMID:12325027
PMID:12352684
PMID:12384501
PMID:12384781
PMID:12408072
PMID:12417772
PMID:12457154
PMID:12497637
PMID:12505163
PMID:12522556
PMID:12522692
PMID:12548749
PMID:12560944
PMID:12562518
PMID:12666888
PMID:12673800
PMID:12684873
PMID:12746422
PMID:12786762
PMID:12791041
PMID:12792423
PMID:12833397
PMID:12851846
PMID:12865758
PMID:12910486
PMID:12925341
PMID:14070830
PMID:14505035
PMID:14643477
PMID:14691997
PMID:14694360
PMID:14722929
PMID:14735592
PMID:14985372
PMID:14986832
PMID:15033936
PMID:15070423
PMID:1511312
PMID:15113126
PMID:15146474
PMID:15150777
PMID:15151513
PMID:15219044
PMID:15235031
PMID:15241677
PMID:15253766
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PMID:15365987
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PMID:15464308
PMID:15479191
PMID:15488970
PMID:15504600
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PMID:15547423
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PMID:15617550
PMID:15633193
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PMID:15666300
PMID:15700112
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PMID:15769851
PMID:15790391
PMID:15832357
PMID:15855033
PMID:15937416
PMID:15954104
PMID:15964725
PMID:15967879
PMID:16076412
PMID:16077952
PMID:16088916
PMID:16125251
PMID:16154643
PMID:16217030
PMID:16222667
PMID:16300957
PMID:16336662
PMID:16379178
PMID:16379542
PMID:163800907
PMID:16380907
PMID:16467727
PMID:16532460
PMID:16545002
PMID:16650079
PMID:16712961
PMID:16773579
PMID:16840571
PMID:16849369
PMID:16864573
PMID:16868655
PMID:1693158
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PMID:17036313
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PMID:17146393
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PMID:17253936
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PMID:18324688
PMID:18414213
PMID:18451998
PMID:18560174
PMID:18570691
PMID:18668259
PMID:18684989
PMID:18758381
PMID:18776652
PMID:18804553
PMID:18843290
PMID:18925674
PMID:18941476
PMID:18983339
PMID:18985073
PMID:18987669
PMID:18988928
PMID:19027181
PMID:19043807
PMID:19050930
PMID:19072567
PMID:19081147
PMID:19125024
PMID:19157576
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PMID:19230829
PMID:19235794
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PMID:19371219
PMID:19375528
PMID:19465004
PMID:19587431
PMID:19707039
PMID:19715472
PMID:19719946
PMID:19723508
PMID:19775242
PMID:19814620
PMID:19887791
PMID:19925344
PMID:19929407
PMID:19929408
PMID:19941053
PMID:20022641
PMID:20059378
PMID:20073550
PMID:20083784
PMID:20086291
PMID:20086306
PMID:20095872
PMID:20101161
PMID:20146813
PMID:20154630
PMID:20201936
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PMID:20234132
PMID:20236118
PMID:20301449
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PMID:20441744
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PMID:20563649
PMID:20593197
PMID:20607074
PMID:20650534
PMID:20668687
PMID:20708129
PMID:20739944
PMID:20815033
PMID:20863150
PMID:20956747
PMID:20981092
PMID:21094084
PMID:21112098
PMID:21122151
PMID:21131880
PMID:21162657
PMID:21198395
PMID:21220926
PMID:21281533
PMID:21287563
PMID:21298213
PMID:21298644
PMID:21366436
PMID:21465647
An association has been curated linking
Gjb2
and
Vohwinkel syndrome
in Mus musculus.
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
GJB2 (Homo sapiens)
[(IAGP) inferred by association of genotype and phenotype]
1
RGD objects have been annotated to
Vohwinkel syndrome
(DOID:0111339)
44
papers in RGD have been used to annotate
Gjb2
Curation Notes: ClinVar Annotator: match by term: Keratoderma hereditarium mutilans | ClinVar Annotator: match by term: Mutilating keratoderma
Original References(s):
PMID:21468573
PMID:21481246
PMID:21488715
PMID:21738759
PMID:21776002
PMID:21777984
PMID:21811586
PMID:21836520
PMID:21844220
PMID:21910243
PMID:21962949
PMID:22000900
PMID:22011219
PMID:22016077
PMID:22037723
PMID:22106692
PMID:22281373
PMID:22384008
PMID:22429511
PMID:22450542
PMID:22498363
PMID:22567152
PMID:22567369
PMID:22574200
PMID:22592158
PMID:22613756
PMID:22643125
PMID:22668073
PMID:22695344
PMID:22701767
PMID:22747691
PMID:22785241
PMID:22796187
PMID:22808909
PMID:22855627
PMID:22925408
PMID:22975760
PMID:22981120
PMID:22991996
PMID:22995991
PMID:23039283
PMID:23073770
PMID:23141775
PMID:23328711
PMID:23477838
PMID:23489192
PMID:23503914
PMID:23504403
PMID:23555729
PMID:23637863
PMID:23638949
PMID:23665763
PMID:23668481
PMID:23680645
PMID:23695287
PMID:23757202
PMID:23797420
PMID:23804846
PMID:23826813
PMID:23873582
PMID:23900770
PMID:23924173
PMID:23967136
PMID:24013081
PMID:24033266
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