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.
Term: HTLV-1-associated myelopathy/tropical spastic paraparesis
Accession: DOID:321
browse the term
Definition: A viral infectious disease that results in inflammation located in spinal cord, has_material_basis_in human T-cell leukemia virus type 1 (Deltaretrovirus priTlym1), which is transmitted by sexual contact, and transmitted by breast feeding. The infection has symptom spastic weakness of both legs, has symptom muscle stiffness, has symptom sensory disturbance, and has symptom spasms. (DO)
Synonyms: exact_synonym: Familial Spastic Paraparesis, Htlv 1 Associated; HAM; HAM/TSP; HTLV-1-associated myelopathies; HTLV-1-associated myelopathy; HTLV-1-associated myelopathy/tropical spastic paraparesis; HTLV-I associated myelopathies; HTLV-I associated myelopathy; HTLV-associated myelopathy; Human T Lymphotropic Virus Type 1 Associated Myelopathy; tropical spastic paralysis; tropical spastic paraparesis; tropical spastic paraplegia; tropical spastic paraplegias
xref: EFO:0007527 ; ICD10CM:G04.1 ; MESH:D015493 ; MIM:159580 ; MONDO:0008039 ; NCI:C179058
For additional species annotation, visit the
Alliance of Genome Resources .
Please select species to view GViewer data.
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
N
C3
complement C3
ISO
protein:increased processing:plasma
RGD
PMID:7561187
RGD:11040775
NCBI chrNW_004624828:3,773,816...3,798,077
Ensembl chrNW_004624828:3,770,221...3,797,946
G
G
C3
complement C3
ISO
protein:increased processing:plasma
RGD
PMID:7561187
RGD:11040775
NCBI chr 6:6,250,422...6,289,264
G
P
C3
complement C3
ISO
protein:increased processing:plasma
RGD
PMID:7561187
RGD:11040775
NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
G
S
C3
complement C3
ISO
protein:increased processing:plasma
RGD
PMID:7561187
RGD:11040775
NCBI chrNW_004936588:3,985,732...4,023,221
G
D
C3
complement C3
ISO
protein:increased processing:plasma
RGD
PMID:7561187
RGD:11040775
NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761
G
B
C3
complement C3
ISO
protein:increased processing:plasma
RGD
PMID:7561187
RGD:11040775
NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
G
C
C3
complement C3
ISO
protein:increased processing:plasma
RGD
PMID:7561187
RGD:11040775
NCBI chrNW_004955495:2,796,601...2,824,233
Ensembl chrNW_004955495:2,796,663...2,824,697
G
R
C3
complement C3
ISO
protein:increased processing:plasma
RGD
PMID:7561187
RGD:11040775
NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429
G
M
C3
complement component 3
ISO
protein:increased processing:plasma
RGD
PMID:7561187
RGD:11040775
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
G
H
C3
complement C3
IEP
protein:increased processing:plasma
RGD
PMID:7561187
RGD:11040775
NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
G
N
Ctla4
cytotoxic T-lymphocyte associated protein 4
ISO
mRNA:decreased expression: T cell
RGD
PMID:20945034
RGD:38549361
NCBI chrNW_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324
G
G
CTLA4
cytotoxic T-lymphocyte associated protein 4
ISO
mRNA:decreased expression: T cell
RGD
PMID:20945034
RGD:38549361
NCBI chr10:89,637,176...89,644,436
Ensembl chr10:89,638,314...89,642,344
G
P
CTLA4
cytotoxic T-lymphocyte associated protein 4
ISO
mRNA:decreased expression: T cell
RGD
PMID:20945034
RGD:38549361
NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
G
S
Ctla4
cytotoxic T-lymphocyte associated protein 4
ISO
mRNA:decreased expression: T cell
RGD
PMID:20945034
RGD:38549361
NCBI chrNW_004936631:484,356...489,643
Ensembl chrNW_004936631:484,356...489,643
G
D
CTLA4
cytotoxic T-lymphocyte associated protein 4
ISO
mRNA:decreased expression: T cell
RGD
PMID:20945034
RGD:38549361
NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
G
B
CTLA4
cytotoxic T-lymphocyte associated protein 4
ISO
mRNA:decreased expression: T cell
RGD
PMID:20945034
RGD:38549361
NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
G
C
Ctla4
cytotoxic T-lymphocyte associated protein 4
ISO
mRNA:decreased expression: T cell
RGD
PMID:20945034
RGD:38549361
NCBI chrNW_004955457:11,028,707...11,034,898
Ensembl chrNW_004955457:11,028,698...11,073,460
G
R
Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
mRNA:decreased expression: T cell
RGD
PMID:20945034
RGD:38549361
NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963
G
M
Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
mRNA:decreased expression: T cell
RGD
PMID:20945034
RGD:38549361
NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991
G
H
CTLA4
cytotoxic T-lymphocyte associated protein 4
IEP
mRNA:decreased expression: T cell
RGD
PMID:20945034
RGD:38549361
NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
G
M
Cxcl15
C-X-C motif chemokine ligand 15
severity
ISO
protein:increased expression:plasma (human)
RGD
PMID:26800845
RGD:39939014
NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
G
N
Cxcl8
C-X-C motif chemokine ligand 8
severity
ISO
protein:increased expression:plasma (human)
RGD
PMID:26800845
RGD:39939014
NCBI chrNW_004624730:1,744,097...1,747,206
Ensembl chrNW_004624730:1,743,916...1,747,293
G
G
CXCL8
C-X-C motif chemokine ligand 8
severity
ISO
protein:increased expression:plasma (human)
RGD
PMID:26800845
RGD:39939014
NCBI chr 7:22,202,497...22,205,730
Ensembl chr 7:22,202,527...22,204,068
G
P
CXCL8
C-X-C motif chemokine ligand 8
severity
ISO
protein:increased expression:plasma (human)
RGD
PMID:26800845
RGD:39939014
NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
G
D
CXCL8
C-X-C motif chemokine ligand 8
severity
ISO
protein:increased expression:plasma (human)
RGD
PMID:26800845
RGD:39939014
NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354
G
B
CXCL8
C-X-C motif chemokine ligand 8
severity
ISO
protein:increased expression:plasma (human)
RGD
PMID:26800845
RGD:39939014
NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083
G
C
Cxcl8
C-X-C motif chemokine ligand 8
severity
ISO
protein:increased expression:plasma (human)
RGD
PMID:26800845
RGD:39939014
NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
G
H
CXCL8
C-X-C motif chemokine ligand 8
severity
IEP
protein:increased expression:plasma (human)
RGD
PMID:26800845
RGD:39939014
NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
G
D
DLA-DQB1
major histocompatibility complex, class II, DQ beta 1
susceptibility
ISO
RGD
PMID:25729550
RGD:36174012
NCBI chr12:2,305,307...2,307,711
G
N
Foxp3
forkhead box P3
disease_progression
ISO
mRNA:decreased expression: T cell
RGD
PMID:20945034 PMID:28101786
RGD:38456004 RGD:38549361
NCBI chrNW_004624893:995,145...1,008,492
Ensembl chrNW_004624893:995,182...1,008,679
G
G
FOXP3
forkhead box P3
disease_progression
ISO
mRNA:decreased expression: T cell
RGD
PMID:20945034 PMID:28101786
RGD:38456004 RGD:38549361
NCBI chr X:46,349,890...46,365,133
G
P
FOXP3
forkhead box P3
disease_progression
ISO
mRNA:decreased expression: T cell
RGD
PMID:20945034 PMID:28101786
RGD:38456004 RGD:38549361
NCBI chr X:43,303,777...43,328,164
Ensembl chr X:43,303,785...43,322,968
G
S
Foxp3
forkhead box P3
disease_progression
ISO
mRNA:decreased expression: T cell
RGD
PMID:20945034 PMID:28101786
RGD:38456004 RGD:38549361
NCBI chrNW_004936721:1,118,376...1,125,282
Ensembl chrNW_004936721:1,118,782...1,132,308
G
D
FOXP3
forkhead box P3
disease_progression
ISO
mRNA:decreased expression: T cell
RGD
PMID:20945034 PMID:28101786
RGD:38456004 RGD:38549361
NCBI chr X:42,331,229...42,362,841
Ensembl chr X:42,344,108...42,350,758
G
B
FOXP3
forkhead box P3
disease_progression
ISO
mRNA:decreased expression: T cell
RGD
PMID:20945034 PMID:28101786
RGD:38456004 RGD:38549361
NCBI chr X:41,550,462...41,567,492
Ensembl chr X:49,402,652...49,417,029
G
C
Foxp3
forkhead box P3
disease_progression
ISO
mRNA:decreased expression: T cell
RGD
PMID:20945034 PMID:28101786
RGD:38456004 RGD:38549361
NCBI chrNW_004955543:731,707...742,606
Ensembl chrNW_004955543:731,707...742,606
G
R
Foxp3
forkhead box P3
disease_progression
ISO
mRNA:decreased expression: T cell
RGD
PMID:28101786 PMID:20945034
RGD:38456004 , RGD:38549361
NCBI chr X:17,580,380...17,601,181
Ensembl chr X:14,908,494...14,923,838
G
M
Foxp3
forkhead box P3
disease_progression
ISO
mRNA:decreased expression: T cell
RGD
PMID:28101786 PMID:20945034
RGD:38456004 , RGD:38549361
NCBI chr X:7,445,915...7,461,482
Ensembl chr X:7,439,883...7,461,484
G
H
FOXP3
forkhead box P3
disease_progression
IEP
mRNA:decreased expression: T cell
RGD
PMID:28101786 PMID:20945034
RGD:38456004 , RGD:38549361
NCBI chr X:49,250,438...49,264,710
Ensembl chr X:49,250,438...49,264,800
G
M
H2-Ab1
histocompatibility 2, class II antigen A, beta 1
susceptibility
ISO
RGD
PMID:25729550
RGD:36174012
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
G
H
HLA-DQB1
major histocompatibility complex, class II, DQ beta 1
susceptibility
IAGP
RGD
PMID:25729550
RGD:36174012
NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
G
N
Hnrnpa1
heterogeneous nuclear ribonucleoprotein A1
ISO
RGD
PMID:11984596
RGD:10045967
NCBI chrNW_004624904:2,314,197...2,320,900
Ensembl chrNW_004624904:2,314,249...2,318,791
G
G
HNRNPA1
heterogeneous nuclear ribonucleoprotein A1
ISO
RGD
PMID:11984596
RGD:10045967
NCBI chr11:50,397,173...50,403,192
Ensembl chr11:50,396,888...50,400,802
G
P
HNRNPA1
heterogeneous nuclear ribonucleoprotein A1
ISO
RGD
PMID:11984596
RGD:10045967
NCBI chr 5:19,485,033...19,491,418
Ensembl chr 5:19,485,096...19,491,417
G
S
Hnrnpa1
heterogeneous nuclear ribonucleoprotein A1
ISO
RGD
PMID:11984596
RGD:10045967
NCBI chrNW_004936512:11,481,017...11,487,737
G
D
HNRNPA1
heterogeneous nuclear ribonucleoprotein A1
ISO
RGD
PMID:11984596
RGD:10045967
NCBI chr27:1,013,459...1,020,083
Ensembl chr27:1,015,868...1,019,891
G
B
HNRNPA1
heterogeneous nuclear ribonucleoprotein A1
ISO
RGD
PMID:11984596
RGD:10045967
NCBI chr12:34,456,900...34,463,317
Ensembl chr12:35,184,943...35,188,443
G
C
Hnrnpa1
heterogeneous nuclear ribonucleoprotein A1
ISO
RGD
PMID:11984596
RGD:10045967
NCBI chrNW_004955458:1,530,163...1,536,874
G
R
Hnrnpa1
heterogeneous nuclear ribonucleoprotein A1
ISO
RGD
PMID:11984596
RGD:10045967
NCBI chr 7:136,253,633...136,260,085
Ensembl chr 7:134,375,150...134,381,609
G
M
Hnrnpa1
heterogeneous nuclear ribonucleoprotein A1
ISO
RGD
PMID:11984596
RGD:10045967
NCBI chr15:103,148,840...103,155,119
Ensembl chr15:103,148,859...103,155,119
G
H
HNRNPA1
heterogeneous nuclear ribonucleoprotein A1
IDA
RGD
PMID:11984596
RGD:10045967
NCBI chr12:54,280,726...54,287,087
Ensembl chr12:54,280,193...54,287,088
G
R
Ifnl1
interferon, lambda 1
ISO
associated with HTLV-I Infections;mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:29990995
RGD:126848769
NCBI chr 1:92,926,184...92,927,830
Ensembl chr 1:83,798,703...83,800,235
G
H
IFNL1
interferon lambda 1
IEP
associated with HTLV-I Infections;mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:29990995
RGD:126848769
NCBI chr19:39,296,407...39,298,673
Ensembl chr19:39,296,407...39,298,673
G
N
Il21
interleukin 21
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:28378248
RGD:127285561
NCBI chrNW_004624777:3,054,368...3,061,304
Ensembl chrNW_004624777:3,054,368...3,061,304
G
G
IL21
interleukin 21
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:28378248
RGD:127285561
NCBI chr 7:69,859,793...69,872,237
Ensembl chr 7:69,863,535...69,872,025
G
P
IL21
interleukin 21
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:28378248
RGD:127285561
NCBI chr 8:101,532,742...101,540,712
Ensembl chr 8:101,532,531...101,541,713
G
S
Il21
interleukin 21
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:28378248
RGD:127285561
NCBI chrNW_004936662:1,689,879...1,696,883
Ensembl chrNW_004936662:1,689,879...1,696,883
G
D
IL21
interleukin 21
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:28378248
RGD:127285561
NCBI chr19:17,641,833...17,651,275
Ensembl chr19:17,641,833...17,651,266
G
B
IL21
interleukin 21
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:28378248
RGD:127285561
NCBI chr 4:114,795,979...114,806,936
Ensembl chr 4:125,943,495...125,951,915
G
C
Il21
interleukin 21
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:28378248
RGD:127285561
NCBI chrNW_004955428:18,057,096...18,065,492
Ensembl chrNW_004955428:18,057,096...18,065,492
G
R
Il21
interleukin 21
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:28378248
RGD:127285561
NCBI chr 2:122,045,240...122,055,142
Ensembl chr 2:120,119,444...120,126,996
G
M
Il21
interleukin 21
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:28378248
RGD:127285561
NCBI chr 3:37,276,908...37,286,785
Ensembl chr 3:37,276,908...37,286,785
G
H
IL21
interleukin 21
IEP
protein:decreased expression:blood serum (human)
RGD
PMID:28378248
RGD:127285561
NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066
G
N
Il27
interleukin 27
ISO
associated with HTLV-I Infections;mRNA:decreased expression:blood (human)
RGD
PMID:24041428
RGD:126790519
NCBI chrNW_004624782:13,009,450...13,015,548
Ensembl chrNW_004624782:13,009,564...13,015,440
G
G
IL27
interleukin 27
ISO
associated with HTLV-I Infections;mRNA:decreased expression:blood (human)
RGD
PMID:24041428
RGD:126790519
NCBI chr 5:26,348,559...26,358,028
Ensembl chr 5:26,348,848...26,356,360
G
P
IL27
interleukin 27
ISO
associated with HTLV-I Infections;mRNA:decreased expression:blood (human)
RGD
PMID:24041428
RGD:126790519
NCBI chr 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915
G
S
Il27
interleukin 27
ISO
associated with HTLV-I Infections;mRNA:decreased expression:blood (human)
RGD
PMID:24041428
RGD:126790519
NCBI chrNW_004936501:11,972,715...11,978,152
Ensembl chrNW_004936501:11,973,385...11,976,583
G
D
IL27
interleukin 27
ISO
associated with HTLV-I Infections;mRNA:decreased expression:blood (human)
RGD
PMID:24041428
RGD:126790519
NCBI chr 6:18,243,988...18,248,369
Ensembl chr 6:18,244,040...18,247,635
G
B
IL27
interleukin 27
ISO
associated with HTLV-I Infections;mRNA:decreased expression:blood (human)
RGD
PMID:24041428
RGD:126790519
G
C
Il27
interleukin 27
ISO
associated with HTLV-I Infections;mRNA:decreased expression:blood (human)
RGD
PMID:24041428
RGD:126790519
NCBI chrNW_004955493:6,712,005...6,717,417
Ensembl chrNW_004955493:6,712,005...6,717,417
G
R
Il27
interleukin 27
ISO
associated with HTLV-I Infections;mRNA:decreased expression:blood (human)
RGD
PMID:24041428
RGD:126790519
NCBI chr 1:190,603,684...190,609,292
Ensembl chr 1:181,173,372...181,178,582
G
M
Il27
interleukin 27
ISO
associated with HTLV-I Infections;mRNA:decreased expression:blood (human)
RGD
PMID:24041428
RGD:126790519
NCBI chr 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113
G
H
IL27
interleukin 27
IEP
associated with HTLV-I Infections;mRNA:decreased expression:blood (human)
RGD
PMID:24041428
RGD:126790519
NCBI chr16:28,499,362...28,506,834
Ensembl chr16:28,499,362...28,512,051
G
P
IL29
interleukin 29 (interferon, lambda 1)
ISO
associated with HTLV-I Infections;mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:29990995
RGD:126848769
NCBI chr17:51,484,658...51,485,233
Ensembl chr17:51,484,658...51,485,233
G
D
IL29L
interleukin 29-like
ISO
associated with HTLV-I Infections;mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:29990995
RGD:126848769
NCBI chr24:36,440,445...36,441,017
Ensembl chr24:36,440,445...36,441,017
G
P
KLRK1
killer cell lectin like receptor K1
susceptibility
ISO
DNA:SNPs:3'utr, 5'utr: (rs1049174,rs12821887,rs12819494) (human)
RGD
PMID:22170554
RGD:39018559
NCBI chr 5:61,646,691...61,655,386
Ensembl chr 5:61,647,043...61,656,192
G
D
KLRK1
killer cell lectin like receptor K1
susceptibility
ISO
DNA:SNPs:3'utr, 5'utr: (rs1049174,rs12821887,rs12819494) (human)
RGD
PMID:22170554
RGD:39018559
NCBI chr27:35,634,938...35,658,978
Ensembl chr27:35,639,280...35,658,882
G
B
KLRK1
killer cell lectin like receptor K1
susceptibility
ISO
DNA:SNPs:3'utr, 5'utr: (rs1049174,rs12821887,rs12819494) (human)
RGD
PMID:22170554
RGD:39018559
NCBI chr12:10,411,932...10,429,256
Ensembl chr12:10,662,424...10,699,078
G
R
Klrk1
killer cell lectin like receptor K1
susceptibility
ISO
DNA:SNPs:3'utr, 5'utr: (rs1049174,rs12821887,rs12819494) (human)
RGD
PMID:22170554
RGD:39018559
NCBI chr 4:164,767,377...164,778,453
Ensembl chr 4:163,081,927...163,092,459
G
M
Klrk1
killer cell lectin-like receptor subfamily K, member 1
susceptibility
ISO
DNA:SNPs:3'utr, 5'utr: (rs1049174,rs12821887,rs12819494) (human)
RGD
PMID:22170554
RGD:39018559
NCBI chr 6:129,587,286...129,600,863
Ensembl chr 6:129,587,286...129,600,827
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H
KLRK1
killer cell lectin like receptor K1
susceptibility
IAGP
DNA:SNPs:3'utr, 5'utr: (rs1049174,rs12821887,rs12819494) (human)
RGD
PMID:22170554
RGD:39018559
NCBI chr12:10,372,353...10,390,041
Ensembl chr12:10,372,353...10,391,874
G
B
LOC100972994
HLA class II histocompatibility antigen, DQ beta 1 chain
susceptibility
ISO
RGD
PMID:25729550
RGD:36174012
NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
G
B
LOC100976419
interferon lambda-1
ISO
associated with HTLV-I Infections;mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:29990995
RGD:126848769
NCBI chr19:36,394,462...36,397,363
Ensembl chr19:44,942,186...44,944,519
G
N
LOC101703821
HLA class II histocompatibility antigen, DQ beta 1 chain
susceptibility
ISO
RGD
PMID:25729550
RGD:36174012
NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713
G
S
LOC101964975
interleukin-8
severity
ISO
protein:increased expression:plasma (human)
RGD
PMID:26800845
RGD:39939014
NCBI chrNW_004936598:1,779,471...1,781,353
Ensembl chrNW_004936598:1,779,471...1,781,353
G
G
LOC103234663
interferon lambda-1
ISO
associated with HTLV-I Infections;mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:29990995
RGD:126848769
NCBI chr 6:33,901,382...33,904,356
Ensembl chr 6:33,901,801...33,903,894
G
N
Mmp2
matrix metallopeptidase 2
ISO
associated with Sjogren's Syndrome
RGD
PMID:10464559
RGD:8657078
NCBI chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255
G
G
MMP2
matrix metallopeptidase 2
ISO
associated with Sjogren's Syndrome
RGD
PMID:10464559
RGD:8657078
NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004
G
P
MMP2
matrix metallopeptidase 2
ISO
associated with Sjogren's Syndrome
RGD
PMID:10464559
RGD:8657078
NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982
G
S
Mmp2
matrix metallopeptidase 2
ISO
associated with Sjogren's Syndrome
RGD
PMID:10464559
RGD:8657078
NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851
G
D
MMP2
matrix metallopeptidase 2
ISO
associated with Sjogren's Syndrome
RGD
PMID:10464559
RGD:8657078
NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
G
B
MMP2
matrix metallopeptidase 2
ISO
associated with Sjogren's Syndrome
RGD
PMID:10464559
RGD:8657078
NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
G
C
Mmp2
matrix metallopeptidase 2
ISO
associated with Sjogren's Syndrome
RGD
PMID:10464559
RGD:8657078
NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775
G
R
Mmp2
matrix metallopeptidase 2
ISO
associated with Sjogren's Syndrome
RGD
PMID:10464559
RGD:8657078
NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870
G
M
Mmp2
matrix metallopeptidase 2
ISO
associated with Sjogren's Syndrome
RGD
PMID:10464559
RGD:8657078
NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
G
H
MMP2
matrix metallopeptidase 2
IEP
associated with Sjogren's Syndrome
RGD
PMID:10464559
RGD:8657078
NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
G
N
Nfkb1
nuclear factor kappa B subunit 1
susceptibility
ISO
DNA:SNP:5'utr: (rs3138045) (human)
RGD
PMID:22170554
RGD:39018559
NCBI chrNW_004624830:5,334,273...5,430,887
Ensembl chrNW_004624830:5,333,616...5,408,723
G
G
NFKB1
nuclear factor kappa B subunit 1
susceptibility
ISO
DNA:SNP:5'utr: (rs3138045) (human)
RGD
PMID:22170554
RGD:39018559
NCBI chr 7:50,589,494...50,711,472
Ensembl chr 7:50,589,856...50,711,498
G
P
NFKB1
nuclear factor kappa B subunit 1
susceptibility
ISO
DNA:SNP:5'utr: (rs3138045) (human)
RGD
PMID:22170554
RGD:39018559
NCBI chr 8:118,391,010...118,478,927
Ensembl chr 8:118,390,638...118,506,691
G
S
Nfkb1
nuclear factor kappa B subunit 1
susceptibility
ISO
DNA:SNP:5'utr: (rs3138045) (human)
RGD
PMID:22170554
RGD:39018559
NCBI chrNW_004936520:733,760...850,563
Ensembl chrNW_004936520:733,668...829,435
G
D
NFKB1
nuclear factor kappa B subunit 1
susceptibility
ISO
DNA:SNP:5'utr: (rs3138045) (human)
RGD
PMID:22170554
RGD:39018559
NCBI chr32:23,948,598...24,040,704
Ensembl chr32:23,942,954...24,040,703
G
B
NFKB1
nuclear factor kappa B subunit 1
susceptibility
ISO
DNA:SNP:5'utr: (rs3138045) (human)
RGD
PMID:22170554
RGD:39018559
NCBI chr 4:94,925,048...95,040,849
Ensembl chr 4:105,589,062...105,704,098
G
C
Nfkb1
nuclear factor kappa B subunit 1
susceptibility
ISO
DNA:SNP:5'utr: (rs3138045) (human)
RGD
PMID:22170554
RGD:39018559
NCBI chrNW_004955496:5,842,734...5,950,995
Ensembl chrNW_004955496:5,842,600...5,927,885
G
R
Nfkb1
nuclear factor kappa B subunit 1
susceptibility
ISO
DNA:SNP:5'utr: (rs3138045) (human)
RGD
PMID:22170554
RGD:39018559
NCBI chr 2:226,689,745...226,805,897
Ensembl chr 2:224,016,214...224,110,404
G
M
Nfkb1
nuclear factor of kappa light polypeptide gene enhancer in B cells 1, p105
susceptibility
ISO
DNA:SNP:5'utr: (rs3138045) (human)
RGD
PMID:22170554
RGD:39018559
NCBI chr 3:135,290,416...135,397,422
Ensembl chr 3:135,290,416...135,397,308
G
H
NFKB1
nuclear factor kappa B subunit 1
susceptibility
IAGP
DNA:SNP:5'utr: (rs3138045) (human)
RGD
PMID:22170554
RGD:39018559
NCBI chr 4:102,501,359...102,617,302
Ensembl chr 4:102,501,330...102,617,302
G
R
RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
RGD
PMID:25729550
RGD:36174012
NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597
G
N
Tnfrsf18
TNF receptor superfamily member 18
disease_progression
ISO
mRNA:decreased expression: T cell
RGD
PMID:20945034 PMID:28101786
RGD:38456004 RGD:38549361
NCBI chrNW_004624818:8,376,204...8,380,266
Ensembl chrNW_004624818:8,378,131...8,379,974
G
G
TNFRSF18
TNF receptor superfamily member 18
disease_progression
ISO
mRNA:decreased expression: T cell
RGD
PMID:20945034 PMID:28101786
RGD:38456004 RGD:38549361
NCBI chr20:130,237,950...130,243,303
Ensembl chr20:130,225,847...130,242,251
G
P
TNFRSF18
TNF receptor superfamily member 18
disease_progression
ISO
mRNA:decreased expression: T cell
RGD
PMID:20945034 PMID:28101786
RGD:38456004 RGD:38549361
NCBI chr 6:63,516,037...63,519,323
Ensembl chr 6:63,516,045...63,518,405
G
S
Tnfrsf18
TNF receptor superfamily member 18
disease_progression
ISO
mRNA:decreased expression: T cell
RGD
PMID:20945034 PMID:28101786
RGD:38456004 RGD:38549361
NCBI chrNW_004936737:1,905,307...1,910,356
G
D
TNFRSF18
TNF receptor superfamily member 18
disease_progression
ISO
mRNA:decreased expression: T cell
RGD
PMID:20945034 PMID:28101786
RGD:38456004 RGD:38549361
NCBI chr 5:56,394,559...56,397,502
Ensembl chr 5:56,394,659...56,397,741
G
B
TNFRSF18
TNF receptor superfamily member 18
disease_progression
ISO
mRNA:decreased expression: T cell
RGD
PMID:20945034 PMID:28101786
RGD:38456004 RGD:38549361
G
C
Tnfrsf18
TNF receptor superfamily member 18
disease_progression
ISO
mRNA:decreased expression: T cell
RGD
PMID:20945034 PMID:28101786
RGD:38456004 RGD:38549361
NCBI chrNW_004955486:9,571,527...9,573,733
Ensembl chrNW_004955486:9,571,530...9,573,733
G
R
Tnfrsf18
TNF receptor superfamily member 18
disease_progression
ISO
mRNA:decreased expression: T cell
RGD
PMID:28101786 PMID:20945034
RGD:38456004 , RGD:38549361
NCBI chr 5:171,901,734...171,904,578
Ensembl chr 5:166,618,969...166,622,353
G
M
Tnfrsf18
tumor necrosis factor receptor superfamily, member 18
disease_progression
ISO
mRNA:decreased expression: T cell
RGD
PMID:28101786 PMID:20945034
RGD:38456004 , RGD:38549361
NCBI chr 4:156,110,779...156,113,351
Ensembl chr 4:156,110,621...156,113,352
G
H
TNFRSF18
TNF receptor superfamily member 18
disease_progression
IEP
mRNA:decreased expression: T cell
RGD
PMID:28101786 PMID:20945034
RGD:38456004 , RGD:38549361
NCBI chr 1:1,203,508...1,206,592
Ensembl chr 1:1,203,508...1,206,592
G
N
Zeb1
zinc finger E-box binding homeobox 1
ISO
OMIM:159580
MouseDO
NCBI chrNW_004624805:3,964,448...4,044,546
Ensembl chrNW_004624805:3,964,450...4,042,527
G
G
ZEB1
zinc finger E-box binding homeobox 1
ISO
OMIM:159580
MouseDO
NCBI chr 9:30,674,893...30,862,682
Ensembl chr 9:30,674,578...30,863,250
G
P
ZEB1
zinc finger E-box binding homeobox 1
ISO
OMIM:159580
MouseDO
NCBI chr10:42,013,114...42,216,139
Ensembl chr10:42,013,084...42,214,205
G
S
Zeb1
zinc finger E-box binding homeobox 1
ISO
OMIM:159580
MouseDO
NCBI chrNW_004936574:17,643...175,762
Ensembl chrNW_004936574:17,684...178,293
G
D
ZEB1
zinc finger E-box binding homeobox 1
ISO
OMIM:159580
MouseDO
NCBI chr 2:15,300,401...15,481,535
Ensembl chr 2:15,299,723...15,481,495
G
B
ZEB1
zinc finger E-box binding homeobox 1
ISO
OMIM:159580
MouseDO
NCBI chr10:31,449,202...31,659,534
Ensembl chr10:32,046,491...32,253,550
G
C
Zeb1
zinc finger E-box binding homeobox 1
ISO
OMIM:159580
MouseDO
NCBI chrNW_004955429:23,011,627...23,198,188
Ensembl chrNW_004955429:23,010,790...23,198,250
G
R
Zeb1
zinc finger E-box binding homeobox 1
ISS
OMIM:159580
MouseDO
NCBI chr17:56,644,397...56,811,155
Ensembl chr17:51,948,948...52,115,214
G
M
Zeb1
zinc finger E-box binding homeobox 1
IAGP
OMIM:159580
MouseDO
NCBI chr18:5,591,330...5,775,468
Ensembl chr18:5,591,860...5,775,467
G
H
ZEB1
zinc finger E-box binding homeobox 1
ISS
OMIM:159580
MouseDO
NCBI chr10:31,318,417...31,529,804
Ensembl chr10:31,318,495...31,529,814
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