RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Please select species to view GViewer data.
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
N
Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15309392
NCBI chrNW_004624767:12,680,940...12,715,468
Ensembl chrNW_004624767:12,680,953...12,715,739
G
G
CAT
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15309392
NCBI chr 1:30,792,533...30,828,920
Ensembl chr 1:30,792,399...30,829,592
G
P
CAT
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15309392
NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
G
S
Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15309392
NCBI chrNW_004936533:3,601,270...3,637,128
Ensembl chrNW_004936533:3,600,955...3,637,422
G
D
CAT
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15309392
NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447
G
B
CAT
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15309392
NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
G
C
Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15309392
NCBI chrNW_004955422:11,783,973...11,826,970
Ensembl chrNW_004955422:11,781,835...11,827,464
G
R
Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15309392
NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478
G
M
Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15309392
NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505
G
H
CAT
catalase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15309392
NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
G
N
Hras
HRas proto-oncogene, GTPase
ISO
DNA:tandem repeat polymorphism:3' end:
RGD
PMID:8832771
RGD:12738360
NCBI chrNW_004624766:21,907,423...21,913,414
Ensembl chrNW_004624766:21,911,241...21,913,653
G
G
HRAS
HRas proto-oncogene, GTPase
ISO
DNA:tandem repeat polymorphism:3' end:
RGD
PMID:8832771
RGD:12738360
NCBI chr 1:343,613...345,782
Ensembl chr 1:343,506...346,637
G
P
HRAS
HRas proto-oncogene, GTPase
ISO
DNA:tandem repeat polymorphism:3' end:
RGD
PMID:8832771
RGD:12738360
NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
G
S
Hras
HRas proto-oncogene, GTPase
ISO
DNA:tandem repeat polymorphism:3' end:
RGD
PMID:8832771
RGD:12738360
NCBI chrNW_004936888:375,372...378,125
Ensembl chrNW_004936888:375,377...377,958
G
D
HRAS
HRas proto-oncogene, GTPase
ISO
DNA:tandem repeat polymorphism:3' end:
RGD
PMID:8832771
RGD:12738360
NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717
G
B
HRAS
HRas proto-oncogene, GTPase
ISO
DNA:tandem repeat polymorphism:3' end:
RGD
PMID:8832771
RGD:12738360
NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078
G
C
Hras
HRas proto-oncogene, GTPase
ISO
DNA:tandem repeat polymorphism:3' end:
RGD
PMID:8832771
RGD:12738360
NCBI chrNW_004955476:11,508,446...11,510,333
Ensembl chrNW_004955476:11,508,126...11,510,333
G
R
Hras
HRas proto-oncogene, GTPase
ISO
DNA:tandem repeat polymorphism:3' end:
RGD
PMID:8832771
RGD:12738360
NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:196,296,263...196,300,615
G
M
Hras
Harvey rat sarcoma virus oncogene
ISO
DNA:tandem repeat polymorphism:3' end:
RGD
PMID:8832771
RGD:12738360
NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918
G
H
HRAS
HRas proto-oncogene, GTPase
IAGP
DNA:tandem repeat polymorphism:3' end:
RGD
PMID:8832771
RGD:12738360
NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
G
N
Med12
mediator complex subunit 12
ISO
DNA:mutation:multiple
RGD
PMID:12216017
RGD:1358728
NCBI chrNW_004624903:1,412,346...1,436,474
Ensembl chrNW_004624903:1,412,474...1,436,474
G
G
MED12
mediator complex subunit 12
ISO
DNA:mutation:multiple
RGD
PMID:12216017
RGD:1358728
NCBI chr X:60,915,796...60,939,220
Ensembl chr X:60,915,703...60,937,677
G
P
MED12
mediator complex subunit 12
ISO
DNA:mutation:multiple
RGD
PMID:12216017
RGD:1358728
NCBI chr X:57,150,884...57,174,367
Ensembl chr X:57,150,919...57,175,333
G
S
Med12
mediator complex subunit 12
ISO
DNA:mutation:multiple
RGD
PMID:12216017
RGD:1358728
NCBI chrNW_004936762:460,342...483,264
Ensembl chrNW_004936762:460,342...483,195
G
D
MED12
mediator complex subunit 12
ISO
DNA:mutation:multiple
RGD
PMID:12216017
RGD:1358728
NCBI chr X:55,487,629...55,508,941
Ensembl chr X:55,482,013...55,509,992
G
B
MED12
mediator complex subunit 12
ISO
DNA:mutation:multiple
RGD
PMID:12216017
RGD:1358728
NCBI chr X:60,386,820...60,410,730
Ensembl chr X:70,443,667...70,466,942
G
C
Med12
mediator complex subunit 12
ISO
DNA:mutation:multiple
RGD
PMID:12216017
RGD:1358728
NCBI chrNW_004955475:10,687,168...10,710,286
Ensembl chrNW_004955475:10,687,367...10,710,053
G
R
Med12
mediator complex subunit 12
ISO
DNA:mutation:multiple
RGD
PMID:12216017
RGD:1358728
NCBI chr X:70,444,615...70,467,780
Ensembl chr X:66,404,760...66,428,387
G
M
Med12
mediator complex subunit 12
ISO
DNA:mutation:multiple
RGD
PMID:12216017
RGD:1358728
NCBI chr X:100,317,697...100,342,540
Ensembl chr X:100,317,636...100,341,071
G
H
MED12
mediator complex subunit 12
IAGP
DNA:mutation:multiple
RGD
PMID:12216017
RGD:1358728
NCBI chr X:71,118,596...71,142,450
Ensembl chr X:71,118,543...71,144,103
G
N
Prl
prolactin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2554359
NCBI chrNW_004624756:4,585,542...4,593,285
G
G
PRL
prolactin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2554359
NCBI chr17:49,922,750...49,938,084
Ensembl chr17:49,928,321...49,938,631
G
P
PRL
prolactin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2554359
NCBI chr 7:17,451,367...17,463,771
Ensembl chr 7:17,451,367...17,463,710
G
S
Prl
prolactin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2554359
NCBI chrNW_004936552:7,204,298...7,212,632
G
D
PRL
prolactin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2554359
NCBI chr35:20,673,830...20,683,824
Ensembl chr35:20,673,839...20,683,824
G
B
PRL
prolactin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2554359
NCBI chr 6:22,109,974...22,125,433
Ensembl chr 6:22,450,132...22,459,829
G
C
Prl
prolactin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2554359
NCBI chrNW_004955483:4,495,257...4,503,377
G
R
Prl
prolactin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2554359
NCBI chr17:38,287,355...38,298,234
Ensembl chr17:37,860,007...37,870,062
G
M
Prl
prolactin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2554359
NCBI chr13:27,241,553...27,249,187
Ensembl chr13:27,241,553...27,249,188
G
H
PRL
prolactin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:2554359
NCBI chr 6:22,287,246...22,302,835
Ensembl chr 6:22,287,244...22,302,826
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
N
Cntnap2
contactin associated protein 2
susceptibility
ISO
DNA:SNP: :rs2710102(human)
RGD
PMID:21193173
RGD:13450911
NCBI chrNW_004624800:7,182,588...9,280,407
Ensembl chrNW_004624800:7,181,020...9,279,678
G
G
CNTNAP2
contactin associated protein 2
susceptibility
ISO
DNA:SNP: :rs2710102(human)
RGD
PMID:21193173
RGD:13450911
NCBI chr21:114,741,918...116,988,691
G
P
CNTNAP2
contactin associated protein 2
susceptibility
ISO
DNA:SNP: :rs2710102(human)
RGD
PMID:21193173
RGD:13450911
NCBI chr 9:109,740,510...111,781,144
G
S
Cntnap2
contactin associated protein 2
susceptibility
ISO
DNA:SNP: :rs2710102(human)
RGD
PMID:21193173
RGD:13450911
NCBI chrNW_004936527:2,859,442...4,748,885
Ensembl chrNW_004936527:2,859,930...4,746,995
G
D
CNTNAP2
contactin associated protein 2
susceptibility
ISO
DNA:SNP: :rs2710102(human)
RGD
PMID:21193173
RGD:13450911
NCBI chr16:2,239,953...4,208,718
Ensembl chr16:2,243,918...4,208,416
G
B
CNTNAP2
contactin associated protein 2
susceptibility
ISO
DNA:SNP: :rs2710102(human)
RGD
PMID:21193173
RGD:13450911
NCBI chr 7:137,858,607...140,150,820
Ensembl chr 7:150,345,240...152,626,818
G
C
Cntnap2
contactin associated protein 2
susceptibility
ISO
DNA:SNP: :rs2710102(human)
RGD
PMID:21193173
RGD:13450911
NCBI chrNW_004955491:1,983,002...3,982,510
Ensembl chrNW_004955491:1,984,050...3,981,830
G
R
Cntnap2
contactin associated protein 2
susceptibility
ISO
DNA:SNP: :rs2710102(human)
RGD
PMID:21193173
RGD:13450911
NCBI chr 4:75,109,358...77,366,258
Ensembl chr 4:74,109,472...76,362,027
G
M
Cntnap2
contactin associated protein-like 2
susceptibility
ISO
DNA:SNP: :rs2710102(human)
RGD
PMID:21193173
RGD:13450911
NCBI chr 6:45,036,995...47,278,330
Ensembl chr 6:45,036,291...47,281,147
G
H
CNTNAP2
contactin associated protein 2
susceptibility
IAGP
DNA:SNP: :rs2710102(human)
RGD
PMID:21193173
RGD:13450911
NCBI chr 7:146,116,801...148,420,998
Ensembl chr 7:146,116,002...148,420,998
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all