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: candidiasis
Accession: DOID:1508
browse the term
Definition: An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons. (DO)
Synonyms: exact_synonym: candidiases; disseminated candidiasis; moniliases; moniliasis
narrow_synonym: familial candidiasis, dominant
primary_id: MESH:D002177
xref: ICD10CM:B37 ; ICD9CM:112 ; MONDO:0002026 ; NCI:C26711
For additional species annotation, visit the
Alliance of Genome Resources .
G
AIRE
autoimmune regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12050215
NCBI chr21:30,543,018...30,556,225
Ensembl chr21:43,837,340...43,848,974
G
CHRM2
cholinergic receptor muscarinic 2
ISO
RGD
PMID:19958780
RGD:5509581
NCBI chr 7:128,827,089...128,978,496
Ensembl chr 7:141,466,396...141,467,796
G
IL33
interleukin 33
treatment
ISO
RGD
PMID:22661085
RGD:40400896
NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624
G
LTF
lactotransferrin
ISO
RGD
PMID:17922408
RGD:7243948
NCBI chr 3:46,337,738...46,367,476
Ensembl chr 3:47,442,440...47,471,532
G
MAPK8
mitogen-activated protein kinase 8
ameliorates
ISO
RGD
PMID:28112734
RGD:150340684
NCBI chr10:45,806,748...45,936,362
G
NCR1
natural cytotoxicity triggering receptor 1
disease_progression
ISO
RGD
PMID:27736647
RGD:40818241
NCBI chr19:51,951,496...51,957,433
Ensembl chr19:60,645,677...60,652,274
G
RIPK3
receptor interacting serine/threonine kinase 3
exacerbates
ISO
RGD
PMID:30944411
RGD:127229913
NCBI chr14:5,112,512...5,116,486
Ensembl chr14:23,235,796...23,239,821
G
RELA
RELA proto-oncogene, NF-kB subunit
ISO
ClinVar Annotator: match by term: Mucocutaneous ulceration, chronic | ClinVar Annotator: match by term: RELA-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28600438 PMID:29758562 PMID:32969189 PMID:35412596 PMID:36926348 More...
NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868
G
CD1D
CD1d molecule
ameliorates
ISO
associated with endotoxemia
RGD
PMID:32154791
RGD:127345119
NCBI chr 1:133,549,258...133,557,752
Ensembl chr 1:137,341,690...137,348,173
G
EPHB2
EPH receptor B2
exacerbates
ISO
RGD
PMID:33685996
RGD:127229905
NCBI chr 1:21,895,961...22,107,649
Ensembl chr 1:22,912,570...23,047,118
G
CLEC7A
C-type lectin domain containing 7A
ISO
ClinVar Annotator: match by term: Familial chronic mucocutaneous candidiasis
ClinVar OMIM
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr12:10,161,780...10,174,943
Ensembl chr12:10,410,384...10,425,452
G
IL17F
interleukin 17F
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 6
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21350122 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29458167 PMID:30290665 PMID:32047491 PMID:32185379 PMID:34587561 PMID:35753512 PMID:35874679 More...
NCBI chr 6:51,789,210...51,797,470
Ensembl chr 6:53,057,318...53,065,124
G
TRAF3IP2
TRAF3 interacting protein 2
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 8
ClinVar OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20953186 PMID:20953188 PMID:22513239 PMID:22581863 PMID:24033266 PMID:24120361 PMID:25741868 PMID:28492532 More...
NCBI chr 6:109,367,333...109,414,601
Ensembl chr 6:113,444,005...113,485,533
G
BRK1
BRICK1 subunit of SCAR/WAVE actin nucleating complex
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 3:10,051,054...10,062,364
Ensembl chr 3:10,403,896...10,415,545
G
CIDEC
cell death inducing DFFA like effector c
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 3:9,811,995...9,836,069
Ensembl chr 3:10,048,554...10,173,107
G
CRELD1
cysteine rich with EGF like domains 1
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:9,878,265...9,889,826
G
EMC3
ER membrane protein complex subunit 3
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 3:9,907,446...9,932,140
Ensembl chr 3:10,256,276...10,280,626
G
FANCD2
FA complementation group D2
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 3:9,932,292...10,037,332
Ensembl chr 3:10,312,476...10,389,190
G
FANCD2OS
FANCD2 opposite strand
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 3:10,038,805...10,043,651
Ensembl chr 3:10,392,169...10,392,702
G
IL17RC
interleukin 17 receptor C
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9 | ClinVar Annotator: match by term: IL17RC-related condition
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:25918342 PMID:28492532 More...
NCBI chr 3:9,861,423...9,878,154
Ensembl chr 3:10,210,241...10,226,796
G
IL17RE
interleukin 17 receptor E
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 3:9,846,319...9,860,735
Ensembl chr 3:10,195,209...10,208,958
G
JAGN1
jagunal homolog 1
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 3:9,835,123...9,838,398
Ensembl chr 3:10,183,760...10,187,064
G
PRRT3
proline rich transmembrane protein 3
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 3:9,890,336...9,897,263
Ensembl chr 3:10,238,720...10,246,127
G
VHL
von Hippel-Lindau tumor suppressor
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234
G
CLEC7A
C-type lectin domain containing 7A
ISO
ClinVar Annotator: match by term: Candidiasis familial chronic mucocutaneous, autosomal recessive
ClinVar
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868
NCBI chr12:10,161,780...10,174,943
Ensembl chr12:10,410,384...10,425,452
G
IL17RA
interleukin 17 receptor A
ISO
ClinVar Annotator: match by term: Chronic mucocutaneous candidiasis | ClinVar Annotator: match by term: Familial Candidiasis, Recessive
ClinVar
PMID:16670328 PMID:18802100 PMID:21178015 PMID:21350122 PMID:24033266 PMID:25741868 PMID:27930337 PMID:28492532 More...
NCBI chr22:511,091...541,504
Ensembl chr22:15,950,463...15,974,865
G
MAPK8
mitogen-activated protein kinase 8
ISO
associated with connective tissue disease;DNA:splice-site mutation:splice junction:c.311+1G>A (human)
RGD
PMID:31784499
RGD:150340677
NCBI chr10:45,806,748...45,936,362
G
STAT1
signal transducer and activator of transcription 1
ISO
ClinVar Annotator: match by term: Chronic mucocutaneous candidiasis
ClinVar
PMID:21714643 PMID:21727188 PMID:23541320 PMID:23709754 PMID:24033266 PMID:24343863 PMID:25741868 PMID:26255980 PMID:26494717 PMID:26604104 PMID:28161409 PMID:28427548 PMID:28492532 PMID:28815025 More...
NCBI chr2B:78,270,642...78,316,074
Ensembl chr2B:196,186,906...196,232,280
G
CARD9
caspase recruitment domain family member 9
susceptibility
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
OMIM ClinVar
PMID:9536098 PMID:9835960 PMID:16199547 PMID:17576681 PMID:19864672 PMID:21983784 PMID:22730530 PMID:23335372 PMID:24033266 PMID:24068945 PMID:24131138 PMID:24231284 PMID:24704721 PMID:25702837 PMID:25731871 PMID:25741868 PMID:25933095 PMID:26038974 PMID:26521038 PMID:26679537 PMID:26961233 PMID:27490946 PMID:27777981 PMID:28252032 PMID:28492532 PMID:28842327 PMID:29080677 PMID:29307770 PMID:29890237 PMID:30136218 PMID:30429846 PMID:30537277 PMID:30809743 PMID:30837984 PMID:31102464 PMID:31414217 PMID:31469433 PMID:32888943 PMID:33414972 PMID:33558980 PMID:33872781 PMID:34234782 PMID:35628702 PMID:35727133 More...
NCBI chr 9:107,432,709...107,446,271
Ensembl chr 9:136,416,279...136,424,756
G
ENTR1
endosome associated trafficking regulator 1
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:28492532
NCBI chr 9:107,474,676...107,483,625
Ensembl chr 9:136,454,597...136,463,414
G
INPP5E
inositol polyphosphate-5-phosphatase E
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:28492532
NCBI chr 9:107,502,838...107,516,325
Ensembl chr 9:136,483,144...136,492,731
G
PMPCA
peptidase, mitochondrial processing subunit alpha
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:28492532
NCBI chr 9:107,483,608...107,499,176
Ensembl chr 9:136,464,070...136,477,569
G
SNAPC4
small nuclear RNA activating complex polypeptide 4
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:28492532
NCBI chr 9:107,448,180...107,473,022
Ensembl chr 9:136,428,732...136,450,653
G
IL21R
interleukin 21 receptor
ISO
ClinVar Annotator: match by term: Immunodeficiency 31C
ClinVar
PMID:25741868
Ensembl chr16:27,774,864...27,821,769
G
STAT1
signal transducer and activator of transcription 1
ISO
ClinVar Annotator: match by term: Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | ClinVar Annotator: match by term: Candidiasis, familial, 7 | ClinVar Annotator: match by term: Immunodeficiency 31C
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:21714643 PMID:21727188 PMID:22195034 PMID:22730530 PMID:22847544 PMID:23245795 PMID:23534974 PMID:23541320 PMID:23709754 PMID:24033266 PMID:24188975 PMID:24239102 PMID:24343863 PMID:25042743 PMID:25288569 PMID:25326637 PMID:25367169 PMID:25741868 PMID:26242301 PMID:26255980 PMID:26479788 PMID:26494717 PMID:26513235 PMID:26604104 PMID:26743090 PMID:27114460 PMID:27379765 PMID:27577878 PMID:28011069 PMID:28161409 PMID:28258222 PMID:28427548 PMID:28492532 PMID:28597685 PMID:28622416 PMID:28753426 PMID:28815025 PMID:30317461 PMID:30442829 PMID:31362757 PMID:31448411 PMID:31677808 PMID:32582194 PMID:32888943 PMID:33679782 More...
NCBI chr2B:78,270,642...78,316,074
Ensembl chr2B:196,186,906...196,232,280
G
ADA2
adenosine deaminase 2
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:606,220...648,902
Ensembl chr22:16,042,295...16,081,949
G
ARVCF
ARVCF delta catenin family member
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:2,729,706...2,779,034
Ensembl chr22:18,403,239...18,449,183
G
ATP6V1E1
ATPase H+ transporting V1 subunit E1
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:1,023,028...1,059,416
Ensembl chr22:16,452,358...16,486,902
G
BCL2L13
BCL2 like 13
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:1,069,082...1,161,771
Ensembl chr22:16,496,222...16,590,902
G
BID
BH3 interacting domain death agonist
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:1,164,787...1,205,051
Ensembl chr22:16,594,186...16,632,844
G
C23H22orf39
chromosome 23 C22orf39 homolog
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:2,200,164...2,207,473
Ensembl chr22:17,875,330...17,882,694
G
CDC45
cell division cycle 45
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:2,239,040...2,279,807
Ensembl chr22:17,913,729...17,955,195
G
CLDN5
claudin 5
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:2,282,215...2,286,724
Ensembl chr22:17,958,182...17,959,093
G
CLTCL1
clathrin heavy chain like 1
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:1,934,948...2,050,159
Ensembl chr22:17,613,828...17,726,231
G
COMT
catechol-O-methyltransferase
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:2,704,015...2,731,326
Ensembl chr22:18,375,434...18,402,387
G
DGCR2
DiGeorge syndrome critical region gene 2
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:1,790,899...1,876,983
Ensembl chr22:17,471,360...17,554,161
G
DGCR6
DiGeorge syndrome critical region gene 6
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:1,647,018...1,653,326
G
ESS2
ess-2 splicing factor homolog
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:1,884,790...1,899,081
Ensembl chr22:17,566,021...17,576,686
G
GNB1L
G protein subunit beta 1 like
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:2,542,925...2,616,201
Ensembl chr22:18,222,195...18,289,580
G
GP1BB
glycoprotein Ib platelet subunit beta
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:2,485,350...2,486,688
G
GSC2
goosecoid homeobox 2
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:1,901,389...1,904,671
G
HDHD5
haloacid dehalogenase like hydrolase domain containing 5
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:565,914...586,233
Ensembl chr22:16,002,747...16,030,671
G
IL17RA
interleukin 17 receptor A
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 | ClinVar Annotator: match by term: Immunodeficiency 51
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21350122 PMID:24033266 PMID:24552284 PMID:24552285 PMID:25741868 PMID:26607704 PMID:26871944 PMID:27930337 PMID:28492532 More...
NCBI chr22:511,091...541,504
Ensembl chr22:15,950,463...15,974,865
G
LOC100977781
protein HIRA
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:2,087,846...2,191,192
Ensembl chr22:17,765,598...17,847,084
G
LOC100991444
chromatin remodeling regulator CECR2
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:795,525...987,645
Ensembl chr22:16,335,754...16,412,640
G
MICAL3
microtubule associated monooxygenase, calponin and LIM domain containing 3
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:1,218,210...1,454,979
Ensembl chr22:16,651,820...16,767,723
G
MRPL40
mitochondrial ribosomal protein L40
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:2,191,187...2,195,350
Ensembl chr22:17,866,322...17,870,539
G
PEX26
peroxisomal biogenesis factor 26
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:1,507,601...1,535,859
Ensembl chr22:16,936,405...16,989,730
G
PRODH
proline dehydrogenase 1
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:1,654,019...1,678,389
G
RTL10
retrotransposon Gag like 10
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:2,607,363...2,616,113
G
SLC25A1
solute carrier family 25 member 1
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:1,931,623...1,934,850
Ensembl chr22:17,609,157...17,612,463
G
SLC25A18
solute carrier family 25 member 18
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:991,375...1,021,760
Ensembl chr22:16,420,689...16,451,086
G
TANGO2
transport and golgi organization 2 homolog
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:2,779,217...2,826,445
Ensembl chr22:18,449,387...18,497,886
G
TBX1
T-box transcription factor 1
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:2,521,080...2,541,267
G
TMEM121B
transmembrane protein 121B
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:545,014...551,046
G
TSSK2
testis specific serine kinase 2
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:1,885,099...1,887,139
Ensembl chr22:17,563,492...17,564,568
G
TUBA8
tubulin alpha 8
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:1,541,154...1,561,852
Ensembl chr22:16,936,405...16,989,730
G
TXNRD2
thioredoxin reductase 2
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:2,636,703...2,704,082
Ensembl chr22:18,311,714...18,375,497
G
UFD1
ubiquitin recognition factor in ER associated degradation 1
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:2,209,590...2,238,449
Ensembl chr22:17,885,073...17,913,506
G
USP18
ubiquitin specific peptidase 18
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
G
ITGAM
integrin subunit alpha M
ISO
protein: increased expression: kidney
RGD
PMID:21063074
RGD:7207265
NCBI chr16:23,634,476...23,707,147
Ensembl chr16:31,630,146...31,702,406
G
PTX3
pentraxin 3
severity
ISO
associated with hematologic cancer;DNA:SNP:intron:rs1840680
RGD
PMID:30275011
RGD:38501097
NCBI chr 3:154,485,470...154,492,293
Ensembl chr 3:162,537,577...162,543,652
G
CEBPB
CCAAT enhancer binding protein beta
susceptibility
ISO
RGD
PMID:26317211
RGD:11079756
NCBI chr20:46,533,163...46,535,282
G
IL23A
interleukin 23 subunit alpha
severity
ISO
RGD
PMID:19204111
RGD:39457957
NCBI chr12:32,575,321...32,576,856
Ensembl chr12:32,828,902...32,830,617
G
LCN2
lipocalin 2
no_association
ISO
mRNA:increased expression:tongues:
RGD
PMID:24343647
RGD:126725083
NCBI chr 9:99,259,278...99,274,494
Ensembl chr 9:127,940,799...127,944,798
G
LTF
lactotransferrin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16640825
NCBI chr 3:46,337,738...46,367,476
Ensembl chr 3:47,442,440...47,471,532
G
ZC3H12A
zinc finger CCCH-type containing 12A
ISO
RGD
PMID:26320658
RGD:11534569
NCBI chr 1:36,743,341...36,753,261
Ensembl chr 1:38,093,917...38,103,556
G
MPO
myeloperoxidase
severity
ISO
RGD
PMID:12085336
RGD:40903072
NCBI chr17:52,333,882...52,357,838
Ensembl chr17:57,201,073...57,212,111
G
TNF
tumor necrosis factor
ISO
mRNA, protein:increased expression:spleen, plasma
RGD
PMID:11562071
RGD:10449457
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
G
CXCL8
C-X-C motif chemokine ligand 8
ISO
associated with human immunodeficiency virus infectious disease;protein:increased expression:vaginal fluid (human)
RGD
PMID:18243333
RGD:150523783
NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083
G
IDO1
indoleamine 2,3-dioxygenase 1
ISO
RGD
PMID:23853597
RGD:39938863
NCBI chr 8:39,108,310...39,123,611
Ensembl chr 8:36,617,312...36,632,352
G
LTF
lactotransferrin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16640825
NCBI chr 3:46,337,738...46,367,476
Ensembl chr 3:47,442,440...47,471,532
G
MBL2
mannose binding lectin 2
ISO
DNA:SNP:cds:
RGD
PMID:17470593
RGD:8693700
NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all