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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:Anorectal Malformations
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Accession:DOID:9001471 term browser browse the term
Definition:Congenital defects in the anus and the rectum often involving the urinary and genital tracts.
Synonyms:exact_synonym: Anorectal Anomaly;   Anorectal Atresia;   Anorectal Atresias;   Anorectal Malformation;   Anorectal Stenoses;   anorectal anomalies;   anorectal stenosis
 primary_id: MESH:D000071056
For additional species annotation, visit the Alliance of Genome Resources.



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Anorectal Malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 severity IEP
ISO
mRNA:decreased expression:rectum:
mRNA, protein:decreased expression:rectum
mRNA:decreased expression:hindgut
RGD PMID:22027561 PMID:20146882 PMID:17161201 RGD:9068408, RGD:12798571, RGD:1599527 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
JBrowse link
G Ephb2 Eph receptor B2 IEP mRNA,protein:decreased expression:embryonic cloaca, urorectal septum RGD PMID:19302865 RGD:127285623 NCBI chr 5:148,889,574...149,077,027
Ensembl chr 5:148,897,246...149,077,059
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 IEP mRNA:decreased expression:rectum (rat) RGD PMID:26514922 RGD:11052641 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Gli2 GLI family zinc finger 2 ISO mRNA, protein:decreased expression:rectum RGD PMID:20146882 PMID:11485934 RGD:12798571, RGD:12802352 NCBI chr13:29,946,809...30,163,901
Ensembl chr13:29,946,809...30,163,574
JBrowse link
G Gli3 GLI family zinc finger 3 IEP mRNA:decreased expression:rectum RGD PMID:27079746 RGD:12743602 NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
JBrowse link
G Hoxa13 homeo box A13 IEP mRNA:decreased expression:hindgut
mRNA:decreased expression:rectum
RGD PMID:17161201 PMID:27079746 RGD:1599527, RGD:12743602 NCBI chr 4:81,358,956...81,361,091
Ensembl chr 4:81,358,956...81,361,091
JBrowse link
G Hoxd13 homeo box D13 IEP mRNA:decreased expression:hindgut
mRNA:decreased expression:rectum
RGD PMID:17161201 PMID:27079746 RGD:1599527, RGD:12743602 NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO protein:decreased expression:somite RGD PMID:21480163 RGD:11556204 NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600
JBrowse link
G Shh sonic hedgehog signaling molecule severity IEP
ISO
mRNA:decreased expression:hindgut
mRNA, protein:decreased expression:rectum
DNA, protein:hypermethylation, decreased expression:promoter, rectum
RGD PMID:17161201 PMID:20146882 PMID:25148746 RGD:1599527, RGD:12798571, RGD:12798569 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
JBrowse link
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 subfamily C member 4 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:95,541,186...95,774,898
Ensembl chr15:95,542,315...95,774,283
JBrowse link
G Abhd13 abhydrolase domain containing 13 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:79,501,879...79,516,712
Ensembl chr16:79,501,727...79,516,748
JBrowse link
G Ankrd10 ankyrin repeat domain 10 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:77,866,489...77,889,745
Ensembl chr16:77,864,261...77,889,745
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 chr16:80,753,300...80,777,350
Ensembl chr16:80,753,315...80,777,349
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 9:46,268,758...46,305,038
Ensembl chr 9:46,269,252...46,305,024
JBrowse link
G Cars2 cysteinyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:77,945,468...77,987,163
Ensembl chr16:77,950,008...77,987,772
JBrowse link
G Ccdc168 coiled-coil domain containing 168 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 9:46,198,234...46,236,325 JBrowse link
G Cldn10 claudin 10 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:95,862,785...95,954,526
Ensembl chr15:95,862,760...95,954,526
JBrowse link
G Clybl citramalyl-CoA lyase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:99,283,644...99,505,697
Ensembl chr15:99,283,650...99,505,695
JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839
JBrowse link
G Dct dopachrome tautomerase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:95,062,006...95,100,863
Ensembl chr15:95,062,003...95,100,836
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 chr15:96,025,729...96,065,114
Ensembl chr15:96,025,624...96,065,181
JBrowse link
G Dock9 dedicator of cytokinesis 9 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:98,611,518...98,883,306
Ensembl chr15:98,618,084...98,883,153
JBrowse link
G Dzip1 DAZ interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:95,956,329...96,009,994
Ensembl chr15:95,956,398...96,010,066
JBrowse link
G Efnb2 ephrin B2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:80,783,389...80,827,420
Ensembl chr16:80,783,417...80,824,391
JBrowse link
G Ercc5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472
JBrowse link
G Farp1 FERM, ARH/RhoGEF and pleckstrin domain protein 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:98,124,304...98,363,299
Ensembl chr15:98,182,329...98,363,299
JBrowse link
G Fgf14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:101,045,038...101,679,888
Ensembl chr15:101,045,036...101,679,900
JBrowse link
G Ggact gamma-glutamylamine cyclotransferase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:99,969,246...99,998,343
Ensembl chr15:99,968,282...99,993,455
JBrowse link
G Gpc6 glypican 6 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:94,030,218...95,027,883
Ensembl chr15:94,029,884...95,024,006
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 chr15:98,997,427...99,001,177
Ensembl chr15:98,997,259...99,001,470
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 chr15:95,195,782...95,224,955
Ensembl chr15:95,199,777...95,228,373
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 chr15:99,037,764...99,050,550
Ensembl chr15:99,036,367...99,050,559
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 chr15:96,281,502...97,000,804
Ensembl chr15:96,281,646...97,000,462
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 chr16:77,937,276...77,945,320
Ensembl chr16:77,937,279...77,946,264
JBrowse link
G Ipo5 importin 5 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:97,990,755...98,041,074
Ensembl chr15:98,005,299...98,041,126
JBrowse link
G Irs2 insulin receptor substrate 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:78,488,249...78,512,482
Ensembl chr16:78,485,045...78,512,482
JBrowse link
G Itgbl1 integrin subunit beta like 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:100,780,184...101,041,734
Ensembl chr15:100,780,184...101,041,733
JBrowse link
G Lig4 DNA ligase 4 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:79,518,393...79,526,956
Ensembl chr16:79,518,312...79,527,040
JBrowse link
G Mbnl2 muscleblind-like splicing regulator 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:97,385,238...97,542,924
Ensembl chr15:97,385,244...97,542,937
JBrowse link
G Mettl21c methyltransferase like 21C ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 9:46,130,451...46,145,128
Ensembl chr 9:46,134,001...46,145,112
JBrowse link
G Myo16 myosin XVI ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:78,884,405...79,364,445
Ensembl chr16:78,884,406...79,248,388
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 chr15:100,398,615...100,712,283
Ensembl chr15:100,398,615...100,741,001
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 chr16:79,713,577...80,236,424 JBrowse link
G Naxd NAD(P)HX dehydratase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:77,986,148...78,004,200
Ensembl chr16:77,987,726...78,004,192
JBrowse link
G Oxgr1 oxoglutarate receptor 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:97,145,947...97,146,960
Ensembl chr15:97,144,293...97,166,612
JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266
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 9:46,256,388...46,268,714
Ensembl chr 9:46,256,390...46,268,532
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 chr16:78,019,337...78,043,529
Ensembl chr16:78,019,337...78,043,529
JBrowse link
G Rap2a RAP2A, member of RAS oncogene family ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:97,596,848...97,597,338
Ensembl chr15:97,596,020...97,624,138
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 chr16:84,386,528...84,409,475
Ensembl chr16:84,374,862...84,409,475
JBrowse link
G Slc15a1 solute carrier family 15 member 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:98,537,641...98,582,544
Ensembl chr15:98,537,641...98,582,545
JBrowse link
G Sox21 SRY-box transcription factor 21 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:95,292,272...95,295,316 JBrowse link
G Stk24 serine/threonine kinase 24 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:98,363,707...98,458,940
Ensembl chr15:98,365,791...98,460,553
JBrowse link
G Tex30 testis expressed 30 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 9:46,242,748...46,252,273
Ensembl chr 9:46,242,748...46,252,249
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 chr15:95,174,607...95,195,577
Ensembl chr15:95,174,608...95,195,554
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 chr15:99,201,556...99,254,054
Ensembl chr15:99,201,489...99,254,049
JBrowse link
G Tmtc4 transmembrane O-mannosyltransferase targeting cadherins 4 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:100,000,157...100,056,573
Ensembl chr15:100,000,152...100,056,543
JBrowse link
G Tnfsf13b TNF superfamily member 13b ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:79,462,406...79,492,888
Ensembl chr16:79,462,402...79,492,693
JBrowse link
G Tpp2 tripeptidyl peptidase 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 9:46,046,712...46,128,157
Ensembl chr 9:46,046,632...46,128,157
JBrowse link
G Ubac2 UBA domain containing 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:98,960,139...99,107,795
Ensembl chr15:98,960,139...99,107,787
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 chr15:96,074,557...96,239,365
Ensembl chr15:96,074,564...96,237,806
JBrowse link
G Zic2 Zic family member 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:99,576,697...99,581,522
Ensembl chr15:99,576,697...99,581,522
JBrowse link
G Zic5 Zic family member 5 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:99,558,229...99,567,035
Ensembl chr15:99,560,323...99,567,035
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 chr18:73,571,870...73,597,088
Ensembl chr18:73,571,936...73,628,484
JBrowse link
G Atp9b ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:74,176,863...74,368,993
Ensembl chr18:74,176,863...74,368,953
JBrowse link
G Ctdp1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:73,854,277...73,916,232
Ensembl chr18:73,854,282...73,916,457
JBrowse link
G Galr1 galanin receptor 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:75,772,021...75,787,577
Ensembl chr18:75,772,023...75,787,577
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 chr18:73,682,286...73,690,061
Ensembl chr18:73,682,286...73,688,045
JBrowse link
G Kcng2 potassium voltage-gated channel modifier subfamily G member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:73,742,224...73,810,420
Ensembl chr18:73,743,074...73,808,723
JBrowse link
G Mbp myelin basic protein ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404
JBrowse link
G Nfatc1 nuclear factor of activated T-cells 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:74,046,421...74,156,041
Ensembl chr18:74,046,904...74,156,028
JBrowse link
G Pard6g par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:73,498,119...73,565,048
Ensembl chr18:73,498,021...73,565,029
JBrowse link
G Rbfa ribosome binding factor A ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:73,639,260...73,648,942
Ensembl chr18:73,639,260...73,648,915
JBrowse link
G Sall3 spalt-like transcription factor 3 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:74,406,058...74,425,754
Ensembl chr18:74,407,560...74,426,789
JBrowse link
G Slc66a2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:73,702,472...73,739,678
Ensembl chr18:73,702,564...73,739,676
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 chr18:73,659,107...73,674,893 JBrowse link
G Zfp236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:75,976,478...76,072,428
Ensembl chr18:75,978,231...76,073,737
JBrowse link
G Zfp516 zinc finger protein 516 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,286,453...76,386,526
Ensembl chr18:76,302,096...76,385,269
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 ISO DNA:missense mutation:exon:p.R28L (c.83G>T) (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:19200522 RGD:11576290 NCBI chr  X:8,899,500...9,243,014
Ensembl chr  X:8,899,833...9,238,694
JBrowse link
G Flna filamin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632775 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
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
RGD
PMID:10982179 PMID:17334363 PMID:18414213 PMID:20301719 PMID:23757202 More... RGD:12910952, RGD:12910948 NCBI chr  X:66,404,622...66,427,772
Ensembl chr  X:66,404,760...66,428,387
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:66,501,848...66,509,783
Ensembl chr  X:66,501,820...66,509,925
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:66,404,622...66,427,772
Ensembl chr  X:66,404,760...66,428,387
JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:66,427,926...66,457,378
Ensembl chr  X:66,429,458...66,451,876
JBrowse link
FG Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A 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:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
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 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:8,899,500...9,243,014
Ensembl chr  X:8,899,833...9,238,694
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:9,104,829...9,113,796
Ensembl chr  X:9,104,565...9,148,601
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:9,079,653...9,081,259
Ensembl chr  X:9,080,254...9,081,240
JBrowse link
imperforate anus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Imperforate anus ClinVar PMID:25741868 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600
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 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822
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 ClinVar Annotator: match by term: Johanson-Blizzard syndrome
ClinVar Annotator: match by OMIM:243800
OMIM
ClinVar
PMID:16311597 PMID:18553553 PMID:19006206 PMID:24033266 PMID:25741868 More... NCBI chr 3:107,813,721...107,921,701
Ensembl chr 3:107,811,392...107,922,204
JBrowse link
Persistent Cloaca term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shh sonic hedgehog signaling molecule ISO RGD PMID:24524909 PMID:24524909 RGD:12801442, RGD:12801442 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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 chr 6:89,790,676...89,818,254
Ensembl chr 6:89,790,644...89,817,906
JBrowse link
G Sall1 spalt-like transcription factor 1 ISO ClinVar Annotator: match by term: Townes syndrome
ClinVar Annotator: match by term: Townes-Brocks syndrome 1
ClinVar Annotator: match by OMIM:107480
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8133838 PMID:9425907 PMID:9973281 PMID:10533063 PMID:10819639 More... NCBI chr19:18,005,782...18,022,705
Ensembl chr19:18,007,503...18,022,705
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 chr 6:89,790,676...89,818,254
Ensembl chr 6:89,790,644...89,817,906
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 chr19:18,005,782...18,022,705
Ensembl chr19:18,007,503...18,022,705
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 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr 5:153,515,507...153,516,455
Ensembl chr 5:153,515,376...153,522,508
JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr 8:4,189,257...4,412,183
Ensembl chr 8:4,189,257...4,412,183
JBrowse link
G Fancl FA complementation group L ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:19405097 PMID:23613520 PMID:25754594 PMID:28492532 NCBI chr14:100,249,733...100,317,958
Ensembl chr14:100,248,875...100,314,255
JBrowse link
G Fn1 fibronectin 1 IEP protein:increased expression:embryo RGD PMID:14986037 RGD:7205466 NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
JBrowse link
G Foxf1 forkhead box F1 ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:2629409 PMID:26294094 NCBI chr19:49,153,729...49,157,741
Ensembl chr19:49,153,699...49,157,738
JBrowse link
G Hoxd13 homeo box D13 ISO ClinVar Annotator: match by term: VACTERL association
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:19006232 NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
JBrowse link
G Ift172 intraflagellar transport 172 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr 6:25,081,933...25,121,271 JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:25741868 NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism
DNA:mutation:exon:p.C470R(mouse)
CTD
RGD
PMID:18519639 PMID:18519639 RGD:11556208 NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600
JBrowse link
G Qsox1 quiescin sulfhydryl oxidase 1 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr13:67,949,780...67,987,434
Ensembl chr13:67,949,780...67,987,459
JBrowse link
G Shh sonic hedgehog signaling molecule IEP RGD PMID:12632369 RGD:12801426 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr20:35,359,865...35,590,992
Ensembl chr20:35,359,863...35,590,415
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 chr 6:72,389,701...72,512,516
Ensembl chr 6:72,389,703...72,512,459
JBrowse link
G Fancb FA 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:29,403,771...29,420,484
Ensembl chr  X:29,403,771...29,420,192
JBrowse link
G Fancl FA complementation group L ISO ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked ClinVar PMID:25754594 NCBI chr14:100,249,733...100,317,958
Ensembl chr14:100,248,875...100,314,255
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 chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Sall1 spalt-like transcription factor 1 ISO ClinVar Annotator: match by term: VACTERL-H ClinVar PMID:25741868 NCBI chr19:18,005,782...18,022,705
Ensembl chr19:18,007,503...18,022,705
JBrowse link
G Zic3 Zic family member 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:136,123,662...136,134,295
Ensembl chr  X:136,124,026...136,134,746
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      gastrointestinal system disease 6078
        Digestive System Abnormalities 528
          Anorectal Malformations 104
            Deafness, Nephritis, Anorectal Malformation 0
            Persistent Cloaca 1
            imperforate anus + 98
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        Congenital Abnormalities 5603
          Digestive System Abnormalities 528
            Anorectal Malformations 104
              Deafness, Nephritis, Anorectal Malformation 0
              Persistent Cloaca 1
              imperforate anus + 98
paths to the root