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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:anus disease
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Accession:DOID:3128 term browser browse the term
Definition:Diseases involving the ANUS.
Synonyms:exact_synonym: anal disease;   anal fissure and fistula;   anus diseases
 primary_id: MESH:D001004
 alt_id: RDO:0001253
 xref: NCI:C26695
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Anal Atresia, Hypospadias, and Penoscrotal Inversion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:118,482,692...118,707,856
Ensembl chr14:118,482,692...118,706,219
JBrowse link
G Abhd13 abhydrolase domain containing 13 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 8:9,977,717...9,992,155
Ensembl chr 8:9,977,707...9,992,155
JBrowse link
G Ankrd10 ankyrin repeat domain 10 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 8:11,611,581...11,635,926
Ensembl chr 8:11,611,583...11,635,757
JBrowse link
G Arglu1 arginine and glutamate rich 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 8:8,666,297...8,690,550
Ensembl chr 8:8,665,075...8,690,521
JBrowse link
G Bivm basic, immunoglobulin-like variable motif containing ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 1:44,118,957...44,144,771
Ensembl chr 1:44,118,957...44,144,770
JBrowse link
G Cars2 cysteinyl-tRNA synthetase 2 (mitochondrial)(putative) ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 8:11,514,017...11,550,781
Ensembl chr 8:11,513,977...11,550,783
JBrowse link
G Cldn10 claudin 10 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:118,787,871...118,874,525
Ensembl chr14:118,787,908...118,875,489
JBrowse link
G Clybl citrate lyase beta like ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:122,170,994...122,402,234
Ensembl chr14:122,181,704...122,402,234
JBrowse link
G Col4a1 collagen, type IV, alpha 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 8:11,198,423...11,312,889
Ensembl chr 8:11,198,423...11,312,826
JBrowse link
G Col4a2 collagen, type IV, alpha 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 8:11,312,805...11,449,287
Ensembl chr 8:11,312,805...11,449,287
JBrowse link
G Dct dopachrome tautomerase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:118,012,790...118,052,246
Ensembl chr14:118,012,790...118,052,244
JBrowse link
G Dnajc3 DnaJ heat shock protein family (Hsp40) member C3 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:118,937,932...118,981,702
Ensembl chr14:118,937,976...118,981,697
JBrowse link
G Dock9 dedicator of cytokinesis 9 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:121,538,365...121,797,900
Ensembl chr14:121,542,046...121,797,837
JBrowse link
G Dzip1 DAZ interacting protein 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:118,875,517...118,925,537
Ensembl chr14:118,875,520...118,925,460
JBrowse link
G Efnb2 ephrin B2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 8:8,617,235...8,661,242
Ensembl chr 8:8,617,434...8,661,242
JBrowse link
G Ercc5 excision repair cross-complementing rodent repair deficiency, complementation group 5 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 1:44,146,948...44,181,260
Ensembl chr 1:44,147,744...44,181,260
JBrowse link
G Farp1 FERM, RhoGEF (Arhgef) and pleckstrin domain protein 1 (chondrocyte-derived) ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:121,035,168...121,283,744
Ensembl chr14:121,035,200...121,283,744
JBrowse link
G Fgf14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:123,974,441...124,677,686
Ensembl chr14:123,977,907...124,677,127
JBrowse link
G Ggact gamma-glutamylamine cyclotransferase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:122,890,860...122,913,413
Ensembl chr14:122,816,223...122,913,757
JBrowse link
G Gm8251 predicted gene 8251 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 1:44,055,869...44,082,447
Ensembl chr 1:44,055,872...44,079,746
JBrowse link
G Gpc6 glypican 6 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:116,924,920...117,979,529
Ensembl chr14:116,925,315...117,976,544
JBrowse link
G Gpr18 G protein-coupled receptor 18 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:121,911,434...121,915,888
Ensembl chr14:121,911,253...121,915,781
JBrowse link
G Gpr180 G protein-coupled receptor 180 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:118,137,105...118,164,232
Ensembl chr14:118,137,158...118,163,261
JBrowse link
G Gpr183 G protein-coupled receptor 183 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:121,952,331...121,965,193
Ensembl chr14:121,952,551...121,965,195
JBrowse link
G Hs6st3 heparan sulfate 6-O-sulfotransferase 3 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:119,137,516...119,869,815
Ensembl chr14:119,138,341...119,869,815
JBrowse link
G Ing1 inhibitor of growth family, member 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 8:11,555,762...11,563,251
Ensembl chr 8:11,555,571...11,563,251
JBrowse link
G Ipo5 importin 5 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:120,896,840...120,948,046
Ensembl chr14:120,911,224...120,947,999
JBrowse link
G Irs2 insulin receptor substrate 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 8:10,984,681...11,008,929
Ensembl chr 8:10,984,681...11,008,458
JBrowse link
G Itgbl1 integrin, beta-like 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:123,659,937...123,978,865
Ensembl chr14:123,659,971...123,975,618
JBrowse link
G Lig4 ligase IV, DNA, ATP-dependent ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 8:9,970,020...9,977,680
Ensembl chr 8:9,969,049...9,977,686
JBrowse link
G Mbnl2 muscleblind like splicing factor 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:120,275,652...120,431,698
Ensembl chr14:120,275,669...120,431,697
JBrowse link
G Mettl21c methyltransferase like 21C ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 1:44,009,399...44,042,620
Ensembl chr 1:44,009,408...44,020,034
JBrowse link
G Myo16 myosin XVI ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 8:10,153,911...10,634,742
Ensembl chr 8:10,153,911...10,634,742
JBrowse link
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:123,275,678...123,627,330
Ensembl chr14:123,276,634...123,627,144
JBrowse link
G Nalf1 NALCN channel auxiliary factor 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 8:9,206,006...9,773,329
Ensembl chr 8:9,205,902...9,771,161
JBrowse link
G Naxd NAD(P)HX dehydratase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 8:11,497,506...11,513,287
Ensembl chr 8:11,497,506...11,514,960
JBrowse link
G Oxgr1 oxoglutarate (alpha-ketoglutarate) receptor 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:120,019,585...120,042,435
Ensembl chr14:120,019,585...120,042,435
JBrowse link
G Pcca propionyl-Coenzyme A carboxylase, alpha polypeptide ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:122,484,365...122,889,944
Ensembl chr14:122,534,324...122,891,100
JBrowse link
G Poglut2 protein O-glucosyltransferase 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 1:44,106,546...44,118,880
Ensembl chr 1:44,106,546...44,118,808
JBrowse link
G Rab20 RAB20, member RAS oncogene family ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 8:11,453,390...11,478,640
Ensembl chr 8:11,453,518...11,478,710
JBrowse link
G Rap2a RAS related protein 2a ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:120,478,461...120,507,194
Ensembl chr14:120,478,444...120,507,194
JBrowse link
G Slc10a2 solute carrier family 10, member 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 8:5,083,219...5,105,287
Ensembl chr 8:5,083,219...5,105,351
JBrowse link
G Slc15a1 solute carrier family 15 (oligopeptide transporter), member 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:121,459,621...121,505,254
Ensembl chr14:121,459,621...121,505,252
JBrowse link
G Sox21 SRY (sex determining region Y)-box 21 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:118,233,233...118,237,030
Ensembl chr14:118,233,232...118,237,030
JBrowse link
G Stk24 serine/threonine kinase 24 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:121,284,187...121,380,496
Ensembl chr14:121,286,343...121,380,011
JBrowse link
G Tex30 testis expressed 30 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 1:44,086,613...44,102,491
Ensembl chr 1:44,086,613...44,102,441
JBrowse link
G Tgds TDP-glucose 4,6-dehydratase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:118,111,911...118,132,765
Ensembl chr14:118,111,911...118,132,755
JBrowse link
G Tm9sf2 transmembrane 9 superfamily member 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:122,107,082...122,159,603
Ensembl chr14:122,107,038...122,159,604
JBrowse link
G Tmtc4 transmembrane and tetratricopeptide repeat containing 4 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:122,918,971...122,983,285
Ensembl chr14:122,918,971...122,984,035
JBrowse link
G Tnfsf13b tumor necrosis factor (ligand) superfamily, member 13b ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 8:10,006,229...10,036,000
Ensembl chr 8:10,006,467...10,039,072
JBrowse link
G Tpp2 tripeptidyl peptidase II ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 1:43,933,970...44,003,000
Ensembl chr 1:43,933,647...44,003,000
JBrowse link
G Ubac2 ubiquitin associated domain containing 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:121,878,559...122,021,035
Ensembl chr14:121,878,620...122,021,034
JBrowse link
G Uggt2 UDP-glucose glycoprotein glucosyltransferase 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:118,982,006...119,099,796
Ensembl chr14:118,985,039...119,099,430
JBrowse link
G Zic2 zinc finger protein of the cerebellum 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:122,475,384...122,480,328
Ensembl chr14:122,475,435...122,479,852
JBrowse link
G Zic5 zinc finger protein of the cerebellum 5 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:122,459,160...122,465,658
Ensembl chr14:122,456,795...122,465,677
JBrowse link
anogenital venereal wart term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl20 chemokine (C-C motif) ligand 20 ISO protein:decreased expression:skin RGD PMID:17545018 RGD:7483603 NCBI chr 1:83,116,766...83,119,167
Ensembl chr 1:83,116,766...83,119,167
JBrowse link
G Cd8a CD8 antigen, alpha chain ISO mRNA:decreased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr 6:71,373,427...71,379,171
Ensembl chr 6:71,373,427...71,379,173
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:60,909,025...60,915,832
Ensembl chr 1:60,887,000...60,915,832
JBrowse link
G Foxp3 forkhead box P3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:7,579,676...7,595,243
Ensembl chr  X:7,573,644...7,595,245
JBrowse link
G Ifna16 interferon alpha 16 treatment ISO RGD PMID:25774455 RGD:36174028 NCBI chr 4:88,676,287...88,676,856
Ensembl chr 4:88,675,915...88,676,924
JBrowse link
G Il10 interleukin 10 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:131,019,845...131,024,970
Ensembl chr 1:131,019,845...131,024,974
JBrowse link
G Il12b interleukin 12b treatment ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:7829774, RGD:40400714 NCBI chr11:44,400,063...44,414,677
Ensembl chr11:44,400,063...44,414,033
JBrowse link
G Il2 interleukin 2 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 3:37,120,713...37,125,954
Ensembl chr 3:37,120,523...37,125,959
JBrowse link
G Il21 interleukin 21 ISO protein:decreased expression:blood serum (human) RGD PMID:31414711 RGD:127285371 NCBI chr 3:37,222,759...37,232,636
Ensembl chr 3:37,222,759...37,232,636
JBrowse link
G Il4 interleukin 4 treatment ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:7829774, RGD:40400714 NCBI chr11:53,612,460...53,618,665
Ensembl chr11:53,602,982...53,618,669
JBrowse link
G Il6 interleukin 6 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Klrk1 killer cell lectin-like receptor subfamily K, member 1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 6:129,610,323...129,623,903
Ensembl chr 6:129,610,323...129,623,864
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 treatment ISO mRNA:increased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr14:33,377,898...33,447,353
Ensembl chr14:33,377,898...33,447,158
JBrowse link
G Myd88 myeloid differentiation primary response gene 88 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:119,335,934...119,340,018
Ensembl chr 9:119,335,934...119,341,411
JBrowse link
G Ncr1 natural cytotoxicity triggering receptor 1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 7:4,337,715...4,345,184
Ensembl chr 7:4,337,724...4,345,164
JBrowse link
G Pdcd1 programmed cell death 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:94,038,305...94,052,553
Ensembl chr 1:94,038,305...94,052,553
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr 5:121,130,533...121,191,397
Ensembl chr 5:121,130,533...121,191,397
JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr 6:124,720,707...124,738,709
Ensembl chr 6:124,720,707...124,738,714
JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 disease_progression ISO mRNA, protein:decreased expression:skin of body (human) RGD PMID:23569025 RGD:27226706 NCBI chr11:75,410,029...75,422,623
Ensembl chr11:75,409,769...75,422,701
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 7:25,687,002...25,705,077
Ensembl chr 7:25,687,002...25,705,077
JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 3:83,836,272...83,841,824
Ensembl chr 3:83,836,272...83,841,767
JBrowse link
G Tlr3 toll-like receptor 3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 8:45,395,665...45,411,075
Ensembl chr 8:45,395,665...45,411,080
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:66,827,551...66,846,581
Ensembl chr 4:66,827,584...66,930,284
JBrowse link
G Tlr7 toll-like receptor 7 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:167,303,380...167,330,574
Ensembl chr  X:167,304,929...167,330,558
JBrowse link
G Tlr8 toll-like receptor 8 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:167,241,123...167,264,329
Ensembl chr  X:167,242,696...167,264,329
JBrowse link
G Tlr9 toll-like receptor 9 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:106,222,598...106,226,876
Ensembl chr 9:106,222,598...106,226,883
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Tnfrsf18 tumor necrosis factor receptor superfamily, member 18 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:156,026,322...156,028,894
Ensembl chr 4:156,026,164...156,028,895
JBrowse link
anus benign neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifnb1 interferon beta 1, fibroblast ISO CTD Direct Evidence: therapeutic CTD PMID:12170190 PMID:12397731 NCBI chr 4:88,522,025...88,522,794
Ensembl chr 4:88,522,025...88,522,774
JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr13:31,806,646...31,810,635
Ensembl chr13:31,806,633...31,812,476
JBrowse link
G Hmgn2 high mobility group nucleosomal binding domain 2 IEA OMIM:180500 MouseDO NCBI chr 4:133,964,739...133,967,991
Ensembl chr 4:133,964,738...133,968,650
JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 2:105,668,896...105,698,410
Ensembl chr 2:105,668,900...105,697,364
JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 ISO
IEA
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
OMIM:180500
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:180500
OMIM
ClinVar
MouseDO
CTD
PMID:8944018 PMID:9685346 PMID:10490637 PMID:10502778 PMID:10644443 More... NCBI chr 3:129,199,878...129,219,594
Ensembl chr 3:129,199,878...129,219,591
JBrowse link
G Prdm5 PR domain containing 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 6:65,777,656...65,937,622
Ensembl chr 6:65,778,988...65,937,010
JBrowse link
Burn-McKeown syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adnp2 ADNP homeobox 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:80,126,315...80,151,516
Ensembl chr18:80,126,311...80,151,482
JBrowse link
G Atp9b ATPase, class II, type 9B ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:80,734,141...80,934,081
Ensembl chr18:80,734,141...80,934,060
JBrowse link
G Ctdp1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:80,407,959...80,478,739
Ensembl chr18:80,407,959...80,469,695
JBrowse link
G Galr1 galanin receptor 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:82,392,496...82,406,777
Ensembl chr18:82,392,380...82,406,777
JBrowse link
G Hsbp1l1 heat shock factor binding protein 1-like 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:80,228,939...80,250,102
Ensembl chr18:80,229,758...80,247,102
JBrowse link
G Kcng2 potassium voltage-gated channel, subfamily G, member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:80,294,544...80,364,254
Ensembl chr18:80,294,546...80,364,254
JBrowse link
G Mbp myelin basic protein ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:82,475,091...82,585,637
Ensembl chr18:82,475,146...82,585,637
JBrowse link
G Nfatc1 nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:80,606,205...80,713,071
Ensembl chr18:80,606,205...80,713,071
JBrowse link
G Pard6g par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:80,046,830...80,119,640
Ensembl chr18:80,046,890...80,119,639
JBrowse link
G Rbfa ribosome binding factor A ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:80,192,264...80,200,619
Ensembl chr18:80,192,265...80,200,658
JBrowse link
G Sall3 spalt like transcription factor 3 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:80,966,989...80,987,021
Ensembl chr18:80,966,376...80,986,771
JBrowse link
G Slc66a2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:80,255,241...80,292,724
Ensembl chr18:80,253,292...80,292,725
JBrowse link
G Txnl4a thioredoxin-like 4A ISO ClinVar Annotator: match by term: Burn-Mckeown syndrome
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
OMIM
PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 NCBI chr18:80,206,826...80,225,851
Ensembl chr18:80,206,765...80,212,741
Ensembl chr18:80,206,765...80,212,741
JBrowse link
G Zfp236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:82,593,593...82,692,915
Ensembl chr18:82,593,593...82,692,883
JBrowse link
G Zfp516 zinc finger protein 516 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:82,909,688...83,005,314
Ensembl chr18:82,910,663...83,005,314
JBrowse link
FG syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cask calcium/calmodulin-dependent serine protein kinase (MAGUK family) ISO DNA:missense mutation:exon:p.R28L (c.83G>T) (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:19200522 RGD:11576290 NCBI chr  X:13,517,080...13,846,783
Ensembl chr  X:13,517,080...13,851,367
JBrowse link
G Flna filamin, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632775 NCBI chr  X:74,223,461...74,249,854
Ensembl chr  X:74,223,461...74,249,820
JBrowse link
G Med12 mediator complex subunit 12 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Keller syndrome
DNA:missense mutation:cds:2881C>T(p.R961W)(human)
DNA:missense mutation:cds:p.G958E(human)
CTD
ClinVar
PMID:10982179 PMID:17334363 PMID:18414213 PMID:20301719 PMID:23757202 More... RGD:12910952, RGD:12910948 NCBI chr  X:101,274,091...101,298,934
Ensembl chr  X:101,274,030...101,297,465
JBrowse link
FG Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:101,376,376...101,385,629
Ensembl chr  X:101,376,378...101,385,629
JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: FG syndrome 1 OMIM
ClinVar
PMID:6711603 PMID:8279489 PMID:9536098 PMID:10405444 PMID:10982179 More... NCBI chr  X:101,274,091...101,298,934
Ensembl chr  X:101,274,030...101,297,465
JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:101,299,179...101,321,350
Ensembl chr  X:101,299,168...101,325,963
JBrowse link
FG Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin, alpha ISO ClinVar Annotator: match by term: FG syndrome 2 ClinVar
OMIM
PMID:16299064 PMID:17632775 PMID:25167861 PMID:25741868 PMID:28133863 More... NCBI chr  X:74,223,461...74,249,854
Ensembl chr  X:74,223,461...74,249,820
JBrowse link
FG Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cask calcium/calmodulin-dependent serine protein kinase (MAGUK family) ISO ClinVar Annotator: match by term: Mental retardation, CASK-related, X-linked
ClinVar Annotator: match by term: FG syndrome 4
ClinVar Annotator: match by term: CASK-Related Disorder
ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19165920 More... NCBI chr  X:13,517,080...13,846,783
Ensembl chr  X:13,517,080...13,851,367
JBrowse link
G Gpr34 G protein-coupled receptor 34 ISO ClinVar Annotator: match by term: Mental retardation, CASK-related, X-linked ClinVar PMID:21735175 PMID:28492532 NCBI chr  X:13,622,650...13,640,859
Ensembl chr  X:13,632,089...13,640,858
JBrowse link
G Gpr82 G protein-coupled receptor 82 ISO ClinVar Annotator: match by term: Mental retardation, CASK-related, X-linked ClinVar PMID:21735175 PMID:28492532 NCBI chr  X:13,646,134...13,667,433
Ensembl chr  X:13,661,363...13,667,433
JBrowse link
hemorrhoid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19022366 NCBI chr 6:5,168,090...5,193,987
Ensembl chr 6:5,168,090...5,193,946
JBrowse link
imperforate anus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnb1 catenin (cadherin associated protein), beta 1 ISO ClinVar Annotator: match by term: Imperforate anus ClinVar PMID:25741868 NCBI chr 9:120,933,400...120,960,507
Ensembl chr 9:120,929,216...120,960,507
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr19:17,432,314...17,837,712
Ensembl chr19:17,432,319...17,837,632
JBrowse link
IVIC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sall4 spalt like transcription factor 4 ISO ClinVar Annotator: match by term: IVIC syndrome OMIM
ClinVar
PMID:7395922 PMID:17256792 PMID:25741868 NCBI chr 2:168,748,332...168,767,201
Ensembl chr 2:168,748,332...168,767,943
JBrowse link
Johanson-Blizzard syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ubr1 ubiquitin protein ligase E3 component n-recognin 1 ISO
IEA
ClinVar Annotator: match by term: Johanson-Blizzard syndrome
OMIM:243800
ClinVar Annotator: match by OMIM:243800
OMIM
ClinVar
MouseDO
PMID:16311597 PMID:18553553 PMID:19006206 PMID:24033266 PMID:25741868 More... NCBI chr 2:120,860,272...120,970,760
Ensembl chr 2:120,860,269...120,970,715
JBrowse link
Townes-Brocks syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dact1 dishevelled-binding antagonist of beta-catenin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:71,309,884...71,320,107
Ensembl chr12:71,309,884...71,320,107
JBrowse link
G Sall1 spalt like transcription factor 1 ISO
IEA
ClinVar Annotator: match by term: Townes-Brocks syndrome 1
ClinVar Annotator: match by term: Townes syndrome
OMIM:107480
ClinVar Annotator: match by OMIM:107480
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:8133838 PMID:9425907 PMID:9973281 PMID:10533063 PMID:10819639 More... NCBI chr 8:89,027,242...89,044,162
Ensembl chr 8:89,027,235...89,044,162
JBrowse link
Townes-Brocks Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dact1 dishevelled-binding antagonist of beta-catenin 1 ISO ClinVar Annotator: match by term: TOWNES-BROCKS SYNDROME 2
ClinVar Annotator: match by term: Townes-Brocks syndrome 2
ClinVar
OMIM
PMID:25741868 PMID:28054444 NCBI chr12:71,309,884...71,320,107
Ensembl chr12:71,309,884...71,320,107
JBrowse link
Townes-Brocks-Branchiootorenal-Like Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sall1 spalt like transcription factor 1 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome
ClinVar PMID:10928856 PMID:14755477 PMID:28492532 NCBI chr 8:89,027,242...89,044,162
Ensembl chr 8:89,027,235...89,044,162
JBrowse link
VACTERL association term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cplane2 ciliogenesis and planar polarity effector 2 IEA OMIM:192350 | OMIM:276950 MouseDO NCBI chr 4:141,213,940...141,220,114
Ensembl chr 4:141,213,956...141,226,756
JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 IEA OMIM:192350 | OMIM:276950 MouseDO NCBI chr 9:6,928,550...7,178,306
Ensembl chr 9:6,928,503...7,184,446
JBrowse link
G Fancl Fanconi anemia, complementation group L ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:19405097 PMID:23613520 PMID:25754594 PMID:28492532 NCBI chr11:26,387,084...26,471,883
Ensembl chr11:26,386,135...26,471,876
JBrowse link
G Fn1 fibronectin 1 ISO protein:increased expression:embryo RGD PMID:14986037 RGD:7205466 NCBI chr 1:71,585,473...71,653,280
Ensembl chr 1:71,585,520...71,653,200
JBrowse link
G Foxf1 forkhead box F1 ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:2629409 PMID:26294094 NCBI chr 8:121,084,386...121,088,154
Ensembl chr 8:121,084,386...121,088,144
JBrowse link
G Hoxd13 homeobox D13 ISO ClinVar Annotator: match by term: VACTERL association
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:19006232 NCBI chr 2:74,668,225...74,671,603
Ensembl chr 2:74,668,310...74,671,599
JBrowse link
G Ift172 intraflagellar transport 172 IEA OMIM:192350 | OMIM:276950 MouseDO NCBI chr 5:31,253,279...31,291,391
Ensembl chr 5:31,253,277...31,291,116
JBrowse link
G Notch2 notch 2 ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:25741868 NCBI chr 3:98,013,538...98,150,367
Ensembl chr 3:98,013,527...98,150,361
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO
IEA
IAGP
CTD Direct Evidence: marker/mechanism
OMIM:192350 | OMIM:276950
DNA:mutation:exon:p.C470R(mouse)
CTD
MouseDO
PMID:18519639 PMID:18519639 RGD:11556208 NCBI chr19:17,432,314...17,837,712
Ensembl chr19:17,432,319...17,837,632
JBrowse link
G Qsox1 quiescin Q6 sulfhydryl oxidase 1 IEA OMIM:192350 | OMIM:276950 MouseDO NCBI chr 1:155,778,155...155,812,899
Ensembl chr 1:155,776,029...155,812,889
JBrowse link
G Shh sonic hedgehog ISO RGD PMID:12632369 RGD:12801426 NCBI chr 5:28,456,840...28,467,101
Ensembl chr 5:28,456,815...28,467,256
JBrowse link
G Tbc1d32 TBC1 domain family, member 32 IEA OMIM:192350 | OMIM:276950 MouseDO NCBI chr10:56,014,293...56,228,968
Ensembl chr10:56,014,293...56,228,689
JBrowse link
X-linked VACTERL association term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Baz1a bromodomain adjacent to zinc finger domain 1A ISO ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations ClinVar NCBI chr12:54,892,989...55,014,371
Ensembl chr12:54,892,989...55,014,348
JBrowse link
G Fancb Fanconi anemia, complementation group B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL-H
CTD
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr  X:164,980,480...164,997,272
Ensembl chr  X:164,980,592...164,997,272
JBrowse link
G Fancl Fanconi anemia, complementation group L ISO ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked ClinVar PMID:25754594 NCBI chr11:26,387,084...26,471,883
Ensembl chr11:26,386,135...26,471,876
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL-H
ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly
CTD
ClinVar
PMID:9399897 PMID:9467011 PMID:10232405 PMID:10353779 PMID:10400993 More... NCBI chr19:32,757,577...32,826,160
Ensembl chr19:32,757,497...32,826,160
JBrowse link
G Sall1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: VACTERL-H ClinVar PMID:25741868 NCBI chr 8:89,027,242...89,044,162
Ensembl chr 8:89,027,235...89,044,162
JBrowse link
G Zic3 zinc finger protein of the cerebellum 3 ISO ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus
ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked
ClinVar Annotator: match by OMIM:314390
OMIM
ClinVar
PMID:2629409 PMID:10980576 PMID:14681828 PMID:17764085 PMID:23427188 More... NCBI chr  X:58,030,628...58,036,630
Ensembl chr  X:58,022,700...58,041,736
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14517
    disease of anatomical entity 14115
      gastrointestinal system disease 5777
        intestinal disease 2404
          rectal disease 1730
            anus disease 133
              Anal Fissure 0
              Axenfeld-Rieger syndrome type 1 5
              Levator Syndrome 0
              Pruritus Ani 0
              anal spasm 0
              anogenital venereal wart + 28
              anorectal stricture 0
              anus benign neoplasm + 1
              anus cancer + 0
              fibroepithelial polyp of the anus 0
              gonorrhea + 0
              hemorrhoid + 1
              imperforate anus + 98
Path 2
Term Annotations click to browse term
  disease 14517
    disease of anatomical entity 14115
      gastrointestinal system disease 5777
        Gastrointestinal Diseases 4104
          intestinal disease 2404
            rectal disease 1730
              anus disease 133
                Anal Fissure 0
                Axenfeld-Rieger syndrome type 1 5
                Levator Syndrome 0
                Pruritus Ani 0
                anal spasm 0
                anogenital venereal wart + 28
                anorectal stricture 0
                anus benign neoplasm + 1
                anus cancer + 0
                fibroepithelial polyp of the anus 0
                gonorrhea + 0
                hemorrhoid + 1
                imperforate anus + 98
paths to the root