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: pemphigoid
Accession: DOID:0080841
browse the term
Definition: An autoimmune disease of skin and connective tissue that is characterized by subepidermal blistering especially in the lower abdomen, groin, and flexor surfaces of the extremities, creating tense blisters that do not break easily. (DO)
Synonyms: exact_synonym: pemphigoids
xref: NCI:C34908
G
Ccl26
C-C motif chemokine ligand 26
ISO
protein:increased expression:blister, serum (human)
RGD
PMID:21881593
RGD:11087555
NCBI chr12:26,745,972...26,750,924
Ensembl chr12:21,109,421...21,114,335
G
Cfb
complement factor B
ISO
RGD
PMID:17024247
RGD:7421522
NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,951,474...3,976,505
G
F2
coagulation factor II, thrombin
ISO
protein:increased expression:plasma
RGD
PMID:21488867
RGD:5147756
NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:77,596,198...77,609,486
G
Icam1
intercellular adhesion molecule 1
ISO
RGD
PMID:1377725
RGD:8547591
NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438
G
Il2
interleukin 2
ISO
RGD
PMID:1973607
RGD:8663461
NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566
G
Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:9687525
RGD:8547843
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
G
Vegfa
vascular endothelial growth factor A
ISO
mRNA:increased expression: :
RGD
PMID:7738351
RGD:7421578
NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641
G
Clu
clusterin
ISO
mRNA:decreased expression:conjunctiva
RGD
PMID:12036968
RGD:8699507
NCBI chr15:44,336,619...44,375,861
Ensembl chr15:40,174,617...40,200,315
G
Il1rn
interleukin 1 receptor antagonist
ISO
protein:increased expression:serum (human)
RGD
PMID:11448121
RGD:8549794
NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445
G
Ptger3
prostaglandin E receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21966456
NCBI chr 2:249,264,985...249,409,966
Ensembl chr 2:246,606,183...246,684,434
G
RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0301, HLA-DQB1*0201 (human) DNA:polymorphism:cds:HLA-DQB1*0301 (human)
RGD
PMID:9683867 PMID:9008223
RGD:7365096 , RGD:7483589
NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597
G
RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism: :DRB1*1101, DRB1*0701(human) DNA:polymorphism: :HLA-DRB1*04(human)
RGD
PMID:9683867 PMID:8052655
RGD:7365096 , RGD:7365103
NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258
G
Tnf
tumor necrosis factor
ISO
protein:increased expression:Conjunctiva:
RGD
PMID:7750940
RGD:7394786
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all