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: Bacterial Skin Diseases
Accession: DOID:9003209
browse the term
Definition: Skin diseases caused by bacteria.
Synonyms: exact_synonym: Bacterial Skin Disease
primary_id: MESH:D017192
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Comt
catechol-O-methyltransferase
severity
ISO
DNA:missense mutation:cds: (rs4680) (human)
RGD
PMID:20184498
RGD:8662334
NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
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Tlr2
toll-like receptor 2
ISO
mRNA:increased expression:footpad:
RGD
PMID:21205004
RGD:7794752
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr4
toll-like receptor 4
ISO
mRNA:decreased expression:footpad:
RGD
PMID:21205004
RGD:7794752
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Ncstn
nicastrin
ISO
ClinVar Annotator: match by term: Acne inversa, familial, 1 | ClinVar Annotator: match by term: NCSTN-related condition
OMIM ClinVar
PMID:20929727 PMID:21412258 PMID:22358060 PMID:25693063 PMID:25741868 PMID:26463457 PMID:28492532 PMID:31421058 PMID:32926179 More...
NCBI chr13:84,530,442...84,546,454
Ensembl chr13:84,530,440...84,546,454
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Psenen
presenilin enhancer gamma secretase subunit
ISO
ClinVar Annotator: match by term: Acne inversa, familial, 2
OMIM ClinVar
PMID:20929727 PMID:21412258 PMID:25741868 PMID:27900998 PMID:28287404 PMID:28492532 PMID:28601418 More...
NCBI chr 1:85,814,905...85,816,654
Ensembl chr 1:85,814,905...85,816,192
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Psen1
presenilin 1
ISO
ClinVar Annotator: match by term: Acne inversa, familial, 3
OMIM ClinVar
PMID:7596406 PMID:7623585 PMID:8538334 PMID:8634712 PMID:8733303 PMID:8905716 PMID:8962160 PMID:8986743 PMID:9521423 PMID:9804121 PMID:10327206 PMID:11389157 PMID:11524469 PMID:11568920 PMID:11710891 PMID:12119298 PMID:12433263 PMID:12549925 PMID:14769392 PMID:18045903 PMID:18797263 PMID:19111578 PMID:20049724 PMID:20157243 PMID:20929727 PMID:21559374 PMID:22242180 PMID:22312439 PMID:22461631 PMID:22475797 PMID:22503161 PMID:22956200 PMID:23114514 PMID:23383383 PMID:23638752 PMID:23885714 PMID:24463146 PMID:24559647 PMID:25285942 PMID:25299611 PMID:25323700 PMID:25333068 PMID:25741868 PMID:26214276 PMID:26337232 PMID:26467025 PMID:26888304 PMID:27073747 PMID:27264813 PMID:27312774 PMID:27930341 PMID:28269784 PMID:28492532 PMID:29091718 PMID:29874583 PMID:30054184 PMID:31235249 PMID:31536626 PMID:31914229 PMID:32032730 PMID:32087291 PMID:32917274 PMID:34389718 PMID:35645353 PMID:35949106 More...
NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650
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Ncstn
nicastrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20929727
NCBI chr13:84,530,442...84,546,454
Ensembl chr13:84,530,440...84,546,454
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Psen1
presenilin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20929727
NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650
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Psenen
presenilin enhancer gamma secretase subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20929727
NCBI chr 1:85,814,905...85,816,654
Ensembl chr 1:85,814,905...85,816,192
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Asip
agouti signaling protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32937126
NCBI chr 3:143,473,584...143,561,170
Ensembl chr 3:143,555,696...143,561,171
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Cd163
CD163 molecule
ISO
protein:increased expression:dermis (human)
RGD
PMID:29603182
RGD:127285799
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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Gjb2
gap junction protein, beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16172043
NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
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Il17d
interleukin 17D
sexual_dimorphism
ISO
mRNA:increased expression:apocrine gland (human)
RGD
PMID:32031713
RGD:40903066
NCBI chr15:31,671,337...31,688,833
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Lcn2
lipocalin 2
disease_progression
ISO
RGD
PMID:28256718
RGD:126781708
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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Mefv
MEFV innate immunity regulator, pyrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
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Nlrp3
NLR family, pyrin domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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Nod2
nucleotide-binding oligomerization domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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Pstpip1
proline-serine-threonine phosphatase-interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580
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Tnf
tumor necrosis factor
ISO
DNA:polymorphism,haplotype:promoter:-238G>A(human)
RGD
PMID:23106544
RGD:7777155
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:haplotype: :
RGD
PMID:17321882
RGD:8547664
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:haplotype: :
RGD
PMID:17321882
RGD:8547664
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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Il17a
interleukin 17A
ISO
RGD
PMID:24614654
RGD:9068425
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il18
interleukin 18
treatment
ISO
RGD
PMID:21536791
RGD:8655921
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il33
interleukin 33
treatment
ISO
mRNA,protein:increased expression:skin
RGD
PMID:23892028 PMID:23892028
RGD:40400893 , RGD:40400893
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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Ripk3
receptor-interacting serine-threonine kinase 3
ameliorates
ISO
RGD
PMID:27524612
RGD:127229915
NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
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Serpinf1
serpin family F member 1
severity
ISO
RGD
PMID:25515118
RGD:36174009
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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