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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:Bardet-Biedl syndrome
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Accession:DOID:1935 term browser browse the term
Definition:A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases. (DO)
Synonyms:related_synonym: Bardet-Biedl syndrome, modifier of
 primary_id: MESH:D020788
 xref: GARD:6866;   NCI:C118632;   OMIM:PS209900;   ORDO:110
For additional species annotation, visit the Alliance of Genome Resources.



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Bardet-Biedl syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
JBrowse link
G Alms1 ALMS1, centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005
JBrowse link
G Ap5b1 adaptor related protein complex 5 subunit beta 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:202,876,272...202,880,303
Ensembl chr 1:202,876,272...202,880,289
JBrowse link
G Arl2 ADP-ribosylation factor like GTPase 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:203,434,129...203,446,156
Ensembl chr 1:203,434,129...203,446,119
JBrowse link
G Arl6 ADP-ribosylation factor like GTPase 6 ISO DNA:missense mutations:multiple (human)
ClinVar Annotator: match by term: Bardet-Biedl syndrome
ClinVar
RGD
PMID:7987310 PMID:8298649 PMID:15258860 PMID:25741868 PMID:15314642 RGD:1578724 NCBI chr11:40,711,878...40,738,254
Ensembl chr11:40,712,022...40,737,937
JBrowse link
G Astn2 astrotactin 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:4269389 PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 More... NCBI chr 5:78,758,142...79,744,021
Ensembl chr 5:78,758,142...79,748,273
JBrowse link
G Atg2a autophagy related 2A ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:203,542,559...203,562,242
Ensembl chr 1:203,542,559...203,562,242
JBrowse link
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:202,343,268...202,345,490
Ensembl chr 1:202,343,240...202,346,065
JBrowse link
G Banf1 BAF nuclear assembly factor 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:202,672,170...202,674,215
Ensembl chr 1:202,671,305...202,674,188
JBrowse link
G Batf2 basic leucine zipper ATF-like transcription factor 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:203,467,291...203,479,428
Ensembl chr 1:203,468,097...203,475,889
JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO DNA:mutations: :multiple (human)
ClinVar Annotator: match by term: Bardet-Biedl syndrome
ClinVar
RGD
PMID:8316268 PMID:9536098 PMID:10564830 PMID:12118255 PMID:12524598 More... RGD:1579969 NCBI chr 1:202,184,812...202,204,118
Ensembl chr 1:202,186,125...202,204,086
JBrowse link
G Bbs10 Bardet-Biedl syndrome 10 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar
RGD
PMID:5982971 PMID:9536098 PMID:16582908 PMID:16823392 PMID:17106446 More... RGD:11352646 NCBI chr 7:46,751,028...46,754,132
Ensembl chr 7:46,750,993...46,754,141
JBrowse link
G Bbs12 Bardet-Biedl syndrome 12 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:17160889 PMID:20080638 PMID:20120035 PMID:20142850 PMID:20472660 More... NCBI chr 2:120,203,396...120,221,024
Ensembl chr 2:120,203,428...120,219,255
JBrowse link
G Bbs2 Bardet-Biedl syndrome 2 ISO DNA:missense, deletion, nonsense mutations:cds:
ClinVar Annotator: match by term: Bardet-Biedl syndrome
ClinVar
RGD
PMID:8298649 PMID:9536098 PMID:11285252 PMID:11567139 PMID:11886943 More... RGD:70665 NCBI chr19:10,909,653...10,944,998
Ensembl chr19:10,909,619...10,944,993
JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:388431 PMID:7711739 PMID:9536098 PMID:11381270 PMID:12016587 More... NCBI chr 8:59,731,912...59,765,408
Ensembl chr 8:59,731,912...59,765,607
JBrowse link
G Bbs5 Bardet-Biedl syndrome 5 ISO DNA:insertion/deletion, nonsense mutation: :263_271delinsGCTCTTA, p.W59X (human)
ClinVar Annotator: match by term: Bardet-Biedl syndrome
ClinVar
RGD
PMID:9536098 PMID:15137946 PMID:16199547 PMID:16877420 PMID:17576681 More... RGD:1579974 NCBI chr 3:54,410,429...54,431,831
Ensembl chr 3:54,410,775...54,431,829
JBrowse link
G Bbs7 Bardet-Biedl syndrome 7 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar
RGD
PMID:9536098 PMID:12567324 PMID:16199547 PMID:16308660 PMID:17576681 More... RGD:1579975 NCBI chr 2:119,434,760...119,474,665
Ensembl chr 2:119,434,760...119,474,396
JBrowse link
G Bbs9 Bardet-Biedl syndrome 9 ISO DNA:mutations:multiple:
ClinVar Annotator: match by term: Bardet-Biedl syndrome
ClinVar
RGD
PMID:9536098 PMID:16380913 PMID:17576681 PMID:20177705 PMID:20603001 More... RGD:9684996 NCBI chr 8:21,013,865...21,437,934
Ensembl chr 8:21,013,944...21,437,930
JBrowse link
G Bles03 basophilic leukemia expressed protein BLES03 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:202,734,555...202,736,809
Ensembl chr 1:202,734,555...202,736,804
JBrowse link
G Brms1 BRMS1, transcriptional repressor and anoikis regulator ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:202,345,766...202,355,028
Ensembl chr 1:202,345,704...202,355,028
JBrowse link
G Capn1 calpain 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:203,275,912...203,300,848
Ensembl chr 1:203,277,344...203,300,177
JBrowse link
G Catsper1 cation channel, sperm associated 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:202,643,009...202,652,059
Ensembl chr 1:202,643,038...202,651,824
JBrowse link
G Ccdc28b coiled coil domain containing 28B ISO DNA:mutation:exon:430C>T(human)
ClinVar Annotator: match by term: Bardet-Biedl syndrome
ClinVar
RGD
PMID:12677556 PMID:16327777 PMID:29127258 PMID:16327777 RGD:9685059 NCBI chr 5:141,962,275...141,967,278
Ensembl chr 5:141,962,276...141,967,382
JBrowse link
G Ccdc85b coiled-coil domain containing 85B ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:202,763,645...202,764,631
Ensembl chr 1:202,763,631...202,764,703
JBrowse link
G Cd248 CD248 molecule ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:202,373,676...202,376,240
Ensembl chr 1:202,373,676...202,376,240
JBrowse link
G Cdc42bpg CDC42 binding protein kinase gamma ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:203,608,339...203,628,502
Ensembl chr 1:203,608,574...203,628,502
JBrowse link
G Cdc42ep2 CDC42 effector protein 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:203,202,000...203,210,891
Ensembl chr 1:203,201,873...203,210,897
JBrowse link
G Cdca5 cell division cycle associated 5 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:203,378,550...203,392,027
Ensembl chr 1:203,378,577...203,392,023
JBrowse link
G Cep19 centrosomal protein 19 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:29127258 NCBI chr11:68,677,869...68,687,117
Ensembl chr11:68,677,871...68,687,022
JBrowse link
G Cep290 centrosomal protein 290 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bardet-Biedl syndrome
CTD
ClinVar
PMID:18327255 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392
JBrowse link
G Cfl1 cofilin 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587
JBrowse link
G Cnih2 cornichon family AMPA receptor auxiliary protein 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:202,399,416...202,405,110
Ensembl chr 1:202,399,419...202,405,089
JBrowse link
G Cst6 cystatin E/M ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:202,655,322...202,657,030
Ensembl chr 1:202,655,322...202,657,030
JBrowse link
G Ctsw cathepsin W ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:202,772,395...202,777,021
Ensembl chr 1:202,772,572...202,775,964
JBrowse link
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:203,183,674...203,199,037
Ensembl chr 1:203,183,686...203,198,983
JBrowse link
G Dpp3 dipeptidylpeptidase 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:202,204,683...202,228,501
Ensembl chr 1:202,204,693...202,228,541
JBrowse link
G Drap1 Dr1 associated protein 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:202,731,775...202,734,468
Ensembl chr 1:202,731,788...202,734,425
JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414
JBrowse link
G Ehbp1 EH domain binding protein 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:96,093,327...96,380,502
Ensembl chr14:96,093,327...96,345,332
JBrowse link
G Ehbp1l1 EH domain binding protein 1-like 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:202,994,115...203,014,320
Ensembl chr 1:202,994,118...203,014,270
JBrowse link
G Ehd1 EH-domain containing 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:203,579,850...203,602,226
Ensembl chr 1:203,579,869...203,602,212
JBrowse link
G Eif1ad eukaryotic translation initiation factor 1A domain containing ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:202,674,362...202,679,662
Ensembl chr 1:202,674,185...202,679,658
JBrowse link
G Eml5 EMAP like 5 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 6:118,046,655...118,175,831
Ensembl chr 6:118,046,655...118,175,831
JBrowse link
G Fam89b family with sequence similarity 89, member B ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:203,015,772...203,017,890
Ensembl chr 1:203,015,773...203,017,367
JBrowse link
G Fau FAU ubiquitin like and ribosomal protein S30 fusion ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:203,350,226...203,351,741
Ensembl chr 1:203,350,189...203,351,742
JBrowse link
G Fibp FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:202,768,065...202,772,405
Ensembl chr 1:202,768,078...202,772,399
JBrowse link
G Fosl1 FOS like 1, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:202,754,549...202,763,057
Ensembl chr 1:202,754,529...202,764,930
JBrowse link
G Frmd8 FERM domain containing 8 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:203,143,216...203,163,868
Ensembl chr 1:203,143,218...203,163,870
JBrowse link
G Gal3st3 galactose-3-O-sulfotransferase 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:202,593,692...202,603,446
Ensembl chr 1:202,593,692...202,603,445
JBrowse link
G Gli1 GLI family zinc finger 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:29127258 NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251
JBrowse link
G Gpha2 glycoprotein hormone subunit alpha 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:203,525,952...203,527,271
Ensembl chr 1:203,526,122...203,527,270
JBrowse link
G Htr2b 5-hydroxytryptamine receptor 2B ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:29127258 NCBI chr 9:86,735,793...86,756,640
Ensembl chr 9:86,742,102...86,755,108
JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:24033266 PMID:24140113 PMID:25168386 NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860
JBrowse link
G Ift27 intraflagellar transport 27 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:16199547 PMID:24488770 PMID:25446516 PMID:28492532 PMID:29704304 More... NCBI chr 7:109,738,622...109,754,416
Ensembl chr 7:109,738,622...109,754,416
JBrowse link
G Il21 interleukin 21 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:17160889 PMID:28492532 NCBI chr 2:120,119,598...120,126,941
Ensembl chr 2:120,119,444...120,126,996
JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 3:124,406,794...124,442,220
Ensembl chr 3:124,406,794...124,442,209
JBrowse link
G Kat5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:202,895,751...202,903,178
Ensembl chr 1:202,895,751...202,903,458
JBrowse link
G Kcnk7 potassium two pore domain channel subfamily K member 7 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:202,988,801...202,992,842
Ensembl chr 1:202,990,198...202,992,872
JBrowse link
G Klc2 kinesin light chain 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:202,414,555...202,424,787
Ensembl chr 1:202,414,557...202,424,672
JBrowse link
G Klhl41 kelch-like family member 41 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:15137946 PMID:16877420 PMID:17632512 PMID:25682901 PMID:26325687 More... NCBI chr 3:54,434,291...54,447,415
Ensembl chr 3:54,434,234...54,449,222
JBrowse link
G Lrp2 LDL receptor related protein 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:15137946 PMID:16877420 PMID:17632512 PMID:25682901 PMID:26325687 More... NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
JBrowse link
G Majin membrane anchored junction protein ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:203,487,777...203,524,098
Ensembl chr 1:203,488,069...203,524,092
JBrowse link
G Map3k11 mitogen-activated protein kinase kinase kinase 11 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:202,975,353...202,988,655
Ensembl chr 1:202,975,353...202,988,652
JBrowse link
G Map4k2 mitogen activated protein kinase kinase kinase kinase 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:203,645,098...203,660,515
Ensembl chr 1:203,645,153...203,660,331
JBrowse link
G Mdh1 malate dehydrogenase 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:95,630,625...95,645,920
Ensembl chr14:95,630,306...95,645,925
JBrowse link
G Men1 menin 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
JBrowse link
G Mir192 microRNA 192 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:203,564,946...203,565,055
Ensembl chr 1:203,564,946...203,565,055
JBrowse link
G Mir194-2 microRNA 194-2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:203,564,761...203,564,845
Ensembl chr 1:203,564,761...203,564,845
JBrowse link
G Mkks MKKS centrosomal shuttling protein ISO Bardet-Biedl syndrome 6 (BBS6)
ClinVar Annotator: match by term: Bardet-Biedl syndrome
ClinVar
RGD
PMID:2896767 PMID:9536098 PMID:10802661 PMID:10973238 PMID:10973251 More... RGD:1601414, RGD:1581208 NCBI chr 3:124,201,877...124,221,142
Ensembl chr 3:124,201,877...124,220,162
JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO DNA:missense mutations: :p.D286G, p.I450T, p.C492W (human)
ClinVar Annotator: match by term: Bardet-Biedl syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:18327255 PMID:25741868 PMID:28492532 PMID:18327255 RGD:11070512 NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
JBrowse link
G mrpl11 mitochondrial ribosomal protein L11 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:202,264,419...202,267,288
Ensembl chr 1:202,264,471...202,267,756
JBrowse link
G Mrpl49 mitochondrial ribosomal protein L49 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:203,346,068...203,350,040
Ensembl chr 1:203,332,481...203,350,049
JBrowse link
G Mus81 MUS81 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:202,790,295...202,796,008
Ensembl chr 1:202,790,466...202,795,843
JBrowse link
G Naaladl1 N-acetylated alpha-linked acidic dipeptidase-like 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:203,400,632...203,414,195
Ensembl chr 1:203,400,631...203,414,195
JBrowse link
G Npas4 neuronal PAS domain protein 4 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:202,281,260...202,298,681
Ensembl chr 1:202,281,958...202,286,724
JBrowse link
G Nphp1 nephrocystin 1 ISO RGD PMID:24746959 RGD:11352646 NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
JBrowse link
G Otx1 orthodenticle homeobox 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:96,082,151...96,089,161
Ensembl chr14:96,082,151...96,089,086
JBrowse link
G Ovol1 ovo like transcriptional repressor 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:202,855,261...202,868,858
Ensembl chr 1:202,855,265...202,866,831
JBrowse link
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:202,437,503...202,569,473
Ensembl chr 1:202,437,505...202,569,473
JBrowse link
G Pcnx3 pecanex 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:202,951,322...202,974,167
Ensembl chr 1:202,951,322...202,976,561
JBrowse link
G Peli1 pellino E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:95,254,274...95,309,168
Ensembl chr14:95,254,589...95,308,285
JBrowse link
G Peli3 pellino E3 ubiquitin protein ligase family member 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:202,230,034...202,242,900
Ensembl chr 1:202,232,228...202,242,857
JBrowse link
G Pola2 DNA polymerase alpha 2, accessory subunit ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:203,227,183...203,251,350
Ensembl chr 1:203,203,388...203,251,348
JBrowse link
G Ppp2r5b protein phosphatase 2, regulatory subunit B', beta ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:203,527,268...203,535,442
Ensembl chr 1:203,527,270...203,535,416
JBrowse link
G Psmd1 proteasome 26S subunit, non-ATPase 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:29127258 NCBI chr 9:86,709,714...86,785,213
Ensembl chr 9:86,709,947...86,785,211
JBrowse link
G Ptpn21 protein tyrosine phosphatase, non-receptor type 21 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 6:117,933,066...117,998,095
Ensembl chr 6:117,933,066...117,998,095
JBrowse link
G Pygm glycogen phosphorylase, muscle associated ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:203,690,550...203,705,369
Ensembl chr 1:203,690,533...203,705,368
JBrowse link
G Rab1b RAB1B, member RAS oncogene family ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:202,405,759...202,413,850
Ensembl chr 1:202,405,759...202,413,868
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
JBrowse link
G Rin1 Ras and Rab interactor 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:202,355,729...202,362,731
Ensembl chr 1:202,355,890...202,362,729
JBrowse link
G Rnaseh2c ribonuclease H2, subunit C ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:202,894,504...202,895,675
Ensembl chr 1:202,894,643...202,897,516
JBrowse link
G Rp9 RP9, pre-mRNA splicing factor ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:16380913 PMID:20177705 PMID:28492532 NCBI chr 8:20,955,447...21,005,225
Ensembl chr 8:20,941,362...21,005,175
JBrowse link
G Sac3d1 SAC3 domain containing 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:203,414,181...203,416,619
Ensembl chr 1:203,414,187...203,416,604
JBrowse link
G Sart1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:202,690,472...202,699,136
Ensembl chr 1:202,690,459...202,699,136
JBrowse link
G Scyl1 SCY1 like pseudokinase 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:203,045,776...203,059,550
Ensembl chr 1:203,045,741...203,059,533
JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:20835237 PMID:25741868 PMID:28492532 NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111
JBrowse link
G Sf1 splicing factor 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:203,670,016...203,683,432
Ensembl chr 1:203,670,018...203,684,330
JBrowse link
G Sf3b2 splicing factor 3b, subunit 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:202,570,423...202,590,774
Ensembl chr 1:202,570,423...202,590,759
JBrowse link
G Sipa1 signal-induced proliferation-associated 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:202,938,532...202,950,672
Ensembl chr 1:202,938,580...202,950,591
JBrowse link
G Slc25a45 solute carrier family 25, member 45 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:203,166,362...203,174,473
Ensembl chr 1:203,166,683...203,174,473
JBrowse link
G Slc29a2 solute carrier family 29 member 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:202,327,641...202,335,185
Ensembl chr 1:202,327,354...202,335,171
JBrowse link
G Slx4ip SLX4 interacting protein ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 3:124,220,215...124,396,797
Ensembl chr 3:124,221,198...124,396,797
JBrowse link
G Snap25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760
JBrowse link
G Snx15 sorting nexin 15 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:203,417,029...203,426,173
Ensembl chr 1:203,417,029...203,426,247
JBrowse link
G Snx32 sorting nexin 32 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:202,801,090...202,818,731
Ensembl chr 1:202,802,394...202,818,743
JBrowse link
G Spata7 spermatogenesis associated 7 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 6:117,879,828...117,925,284
Ensembl chr 6:117,879,823...117,925,284
JBrowse link
G Syvn1 synoviolin 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:203,339,235...203,346,137
Ensembl chr 1:203,339,619...203,346,152
JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISS MouseDO NCBI chr20:35,359,865...35,590,992
Ensembl chr20:35,359,863...35,590,415
JBrowse link
G Tigd3 tigger transposable element derived 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:203,178,456...203,182,775
Ensembl chr 1:203,178,460...203,181,272
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:203,355,930...203,360,287
Ensembl chr 1:203,355,931...203,360,270
JBrowse link
G Tmem151a transmembrane protein 151A ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:202,387,397...202,392,243
Ensembl chr 1:202,388,240...202,392,182
JBrowse link
G Tmem67 transmembrane protein 67 ISO DNA:missense mutation: :p.S320C (human)
ClinVar Annotator: match by term: Bardet-Biedl syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:16415887 PMID:17397051 PMID:18327255 PMID:18414213 PMID:19574260 More... RGD:11070512 NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
JBrowse link
G Trappc3 trafficking protein particle complex subunit 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar NCBI chr 5:138,559,238...138,572,825
Ensembl chr 5:138,557,754...138,572,819
JBrowse link
G Trim32 tripartite motif-containing 32 susceptibility ISO DNA:missense mutation:exon:p.P130S
ClinVar Annotator: match by term: Bardet-Biedl syndrome
ClinVar
RGD
PMID:4269389 PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 More... RGD:1624129 NCBI chr 5:79,005,139...79,016,615
Ensembl chr 5:78,999,389...79,022,018
JBrowse link
G Tsga10ip testis specific 10 interacting protein ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:202,700,576...202,714,668
Ensembl chr 1:202,700,578...202,714,798
JBrowse link
G Ttc8 tetratricopeptide repeat domain 8 susceptibility ISO DNA:deletions:exon, splice junction :p.E187_Y188del, IVS10+2_+4delTGC
ClinVar Annotator: match by term: Bardet-Biedl syndrome
ClinVar
RGD
PMID:9536098 PMID:14520415 PMID:16199547 PMID:16308660 PMID:16877420 More... RGD:1624198 NCBI chr 6:118,198,186...118,252,422
Ensembl chr 6:118,198,201...118,252,418
JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:95,456,330...95,497,483
Ensembl chr14:95,456,330...95,496,830
JBrowse link
G Vps51 VPS51 subunit of GARP complex ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:203,360,434...203,370,295
Ensembl chr 1:203,360,440...203,370,430
JBrowse link
G Vps54 VPS54 subunit of GARP complex ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:95,378,821...95,455,871
Ensembl chr14:95,378,012...95,455,857
JBrowse link
G Wdpcp WD repeat containing planar cell polarity effector ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20671153 PMID:25326635 More... NCBI chr14:95,645,955...95,977,120
Ensembl chr14:95,646,038...95,977,113
JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
JBrowse link
G Yif1a Yip1 interacting factor homolog A, membrane trafficking protein ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:202,394,923...202,399,125
Ensembl chr 1:202,394,897...202,399,427
JBrowse link
G Zc3h14 zinc finger CCCH type containing 14 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 6:118,006,420...118,044,480
Ensembl chr 6:118,006,458...118,044,105
JBrowse link
G Zdhhc24 zinc finger, DHHC-type containing 24 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:9536098 PMID:10564830 PMID:12118255 PMID:12524598 PMID:12677556 More... NCBI chr 1:202,175,832...202,181,943
Ensembl chr 1:202,175,807...202,182,880
JBrowse link
G Zfpl1 zinc finger protein-like 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:203,374,500...203,378,518
Ensembl chr 1:203,374,504...203,378,487
JBrowse link
G Znhit2 zinc finger, HIT-type containing 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:203,354,297...203,355,578
Ensembl chr 1:203,354,138...203,355,636
JBrowse link
G Znrd2 zinc ribbon domain containing 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:16786513 PMID:28492532 NCBI chr 1:203,017,682...203,019,465
Ensembl chr 1:203,017,682...203,019,465
JBrowse link
Bardet-Biedl syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl6 ADP-ribosylation factor like GTPase 6 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1, modifier of ClinVar
OMIM
PMID:9714014 PMID:15314642 NCBI chr11:40,711,878...40,738,254
Ensembl chr11:40,712,022...40,737,937
JBrowse link
G Bbip1 BBSome interacting protein 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:24026985 NCBI chr 1:252,943,589...252,959,578
Ensembl chr 1:252,945,557...252,959,352
JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 OMIM
ClinVar
PMID:9536098 PMID:10564830 PMID:12118255 PMID:12524598 PMID:12567324 More... NCBI chr 1:202,184,812...202,204,118
Ensembl chr 1:202,186,125...202,204,086
JBrowse link
G Bbs10 Bardet-Biedl syndrome 10 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:16582908 PMID:17106446 PMID:20120035 PMID:20177705 PMID:20472660 More... NCBI chr 7:46,751,028...46,754,132
Ensembl chr 7:46,750,993...46,754,141
JBrowse link
G Bbs12 Bardet-Biedl syndrome 12 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:20498079 PMID:22025579 PMID:22773737 PMID:25741868 PMID:25780760 More... NCBI chr 2:120,203,396...120,221,024
Ensembl chr 2:120,203,428...120,219,255
JBrowse link
G Bbs2 Bardet-Biedl syndrome 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:12524598 PMID:22025579 PMID:24349080 PMID:24793135 PMID:25741868 More... NCBI chr19:10,909,653...10,944,998
Ensembl chr19:10,909,619...10,944,993
JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:20177705 PMID:20498079 PMID:25741868 PMID:28492532 NCBI chr 8:59,731,912...59,765,408
Ensembl chr 8:59,731,912...59,765,607
JBrowse link
G Bbs7 Bardet-Biedl syndrome 7 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:119,434,760...119,474,665
Ensembl chr 2:119,434,760...119,474,396
JBrowse link
G Bbs9 Bardet-Biedl syndrome 9 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:16380913 PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr 8:21,013,865...21,437,934
Ensembl chr 8:21,013,944...21,437,930
JBrowse link
G Ccdc28b coiled coil domain containing 28B ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1, modifier of OMIM
ClinVar
PMID:12677556 PMID:16327777 PMID:29127258 NCBI chr 5:141,962,275...141,967,278
Ensembl chr 5:141,962,276...141,967,382
JBrowse link
G Lztfl1 leucine zipper transcription factor-like 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:23692385 NCBI chr 8:123,344,085...123,360,245
Ensembl chr 8:123,344,925...123,360,192
JBrowse link
G Mkks MKKS centrosomal shuttling protein ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1, modifier of ClinVar PMID:12837689 NCBI chr 3:124,201,877...124,221,142
Ensembl chr 3:124,201,877...124,220,162
JBrowse link
G Stx3 syntaxin 3 ISO RGD PMID:26216965 RGD:11532386 NCBI chr 1:208,617,018...208,686,240
Ensembl chr 1:208,639,115...208,685,805
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO RGD PMID:26216965 RGD:11532386 NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
JBrowse link
G Wdpcp WD repeat containing planar cell polarity effector ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr14:95,645,955...95,977,120
Ensembl chr14:95,646,038...95,977,113
JBrowse link
G Zdhhc24 zinc finger, DHHC-type containing 24 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:9536098 PMID:10564830 PMID:12118255 PMID:12524598 PMID:12677556 More... NCBI chr 1:202,175,832...202,181,943
Ensembl chr 1:202,175,807...202,182,880
JBrowse link
Bardet-Biedl Syndrome 1/2, Digenic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bbs2 Bardet-Biedl syndrome 2 ISO ClinVar Annotator: match by term: Bardet-biedl syndrome 1/2, digenic ClinVar PMID:11285252 PMID:11567139 PMID:19402160 PMID:20177705 PMID:20498079 More... NCBI chr19:10,909,653...10,944,998
Ensembl chr19:10,909,619...10,944,993
JBrowse link
Bardet-Biedl Syndrome 1/7, Digenic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bbs7 Bardet-Biedl syndrome 7 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1/7, digenic ClinVar PMID:12567324 PMID:20498079 PMID:21642631 PMID:22500027 PMID:23572516 More... NCBI chr 2:119,434,760...119,474,665
Ensembl chr 2:119,434,760...119,474,396
JBrowse link
Bardet-Biedl syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bbs10 Bardet-Biedl syndrome 10 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 10 OMIM
ClinVar
PMID:16582908 PMID:16823392 PMID:17106446 PMID:17980398 PMID:19190184 More... NCBI chr 7:46,751,028...46,754,132
Ensembl chr 7:46,750,993...46,754,141
JBrowse link
Bardet-Biedl syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Astn2 astrotactin 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 11 ClinVar PMID:4269389 PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 More... NCBI chr 5:78,758,142...79,744,021
Ensembl chr 5:78,758,142...79,748,273
JBrowse link
G Trim32 tripartite motif-containing 32 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 11 OMIM
ClinVar
PMID:4269389 PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 More... NCBI chr 5:79,005,139...79,016,615
Ensembl chr 5:78,999,389...79,022,018
JBrowse link
Bardet-Biedl syndrome 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bbs12 Bardet-Biedl syndrome 12 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 12 OMIM
ClinVar
PMID:17160889 PMID:20080638 PMID:20120035 PMID:20142850 PMID:20472660 More... NCBI chr 2:120,203,396...120,221,024
Ensembl chr 2:120,203,428...120,219,255
JBrowse link
Bardet-Biedl syndrome 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 13 OMIM
ClinVar
PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 PMID:17397051 More... NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
JBrowse link
Bardet-Biedl syndrome 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392
JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 ClinVar PMID:28492532 NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 | ClinVar Annotator: match by term: Bardet-Biedl syndrome 14, modifier of OMIM
ClinVar
PMID:17397051 PMID:18327255 PMID:18414213 PMID:19466712 PMID:19508969 More... NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
JBrowse link
Bardet-Biedl syndrome 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdpcp WD repeat containing planar cell polarity effector ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 15 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:20671153 PMID:25326635 PMID:25427950 More... NCBI chr14:95,645,955...95,977,120
Ensembl chr14:95,646,038...95,977,113
JBrowse link
Bardet-Biedl syndrome 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 16 ClinVar PMID:28492532 NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
JBrowse link
G Pde11a phosphodiesterase 11A ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 16 ClinVar PMID:16767104 PMID:19671705 PMID:20351491 PMID:21047926 PMID:24033266 More... NCBI chr 3:60,913,562...61,297,154
Ensembl chr 3:60,913,562...61,297,158
JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 16 OMIM
ClinVar
PMID:16199547 PMID:20835237 PMID:22190896 PMID:22626039 PMID:23188109 More... NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111
JBrowse link
Bardet-Biedl syndrome 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lztfl1 leucine zipper transcription factor-like 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 17 OMIM
ClinVar
PMID:22510444 PMID:23692385 PMID:25741868 NCBI chr 8:123,344,085...123,360,245
Ensembl chr 8:123,344,925...123,360,192
JBrowse link
G Stx3 syntaxin 3 ISO protein:increased expression:photoreceptor outer segment layer RGD PMID:26216965 RGD:11532386 NCBI chr 1:208,617,018...208,686,240
Ensembl chr 1:208,639,115...208,685,805
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO protein:increased expression:photoreceptor outer segment layer RGD PMID:26216965 RGD:11532386 NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
JBrowse link
Bardet-Biedl syndrome 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bbip1 BBSome interacting protein 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 18 OMIM
ClinVar
PMID:24026985 PMID:25741868 PMID:28492532 NCBI chr 1:252,943,589...252,959,578
Ensembl chr 1:252,945,557...252,959,352
JBrowse link
Bardet-Biedl syndrome 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift27 intraflagellar transport 27 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 19 OMIM
ClinVar
PMID:16199547 PMID:24488770 PMID:25446516 PMID:25741868 PMID:28492532 More... NCBI chr 7:109,738,622...109,754,416
Ensembl chr 7:109,738,622...109,754,416
JBrowse link
Bardet-Biedl syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bbs2 Bardet-Biedl syndrome 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 2 OMIM
ClinVar
PMID:8298649 PMID:9536098 PMID:11285252 PMID:11567139 PMID:12016587 More... NCBI chr19:10,909,653...10,944,998
Ensembl chr19:10,909,619...10,944,993
JBrowse link
Bardet-Biedl Syndrome 2/4, Digenic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bbs2 Bardet-Biedl syndrome 2 ISO ClinVar Annotator: match by term: Bardet-biedl syndrome 2/4, digenic ClinVar PMID:11567139 PMID:20498079 PMID:26355662 PMID:27894351 PMID:28492532 NCBI chr19:10,909,653...10,944,998
Ensembl chr19:10,909,619...10,944,993
JBrowse link
Bardet-Biedl Syndrome 2/6, Digenic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bbs2 Bardet-Biedl syndrome 2 ISO ClinVar Annotator: match by term: Bardet-biedl syndrome 2/6, digenic ClinVar PMID:11285252 PMID:11567139 PMID:15666242 PMID:20120035 PMID:20177705 More... NCBI chr19:10,909,653...10,944,998
Ensembl chr19:10,909,619...10,944,993
JBrowse link
G Mkks MKKS centrosomal shuttling protein ISO ClinVar Annotator: match by term: Bardet-biedl syndrome 2/6, digenic ClinVar PMID:10802661 PMID:10973251 PMID:11567139 PMID:18094050 PMID:20177705 More... NCBI chr 3:124,201,877...124,221,142
Ensembl chr 3:124,201,877...124,220,162
JBrowse link
Bardet-Biedl syndrome 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift172 intraflagellar transport 172 ISO OMIM NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860
JBrowse link
Bardet-Biedl syndrome 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap418 cilia and flagella associated protein 418 ISO ClinVar Annotator: match by term: Bardet-biedl syndrome 21 OMIM
ClinVar
PMID:22177090 PMID:25741868 PMID:26355662 PMID:26854863 PMID:27008867 More... NCBI chr 5:23,996,395...24,015,609
Ensembl chr 5:23,996,718...24,015,605
JBrowse link
Bardet-Biedl syndrome 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 22 ClinVar PMID:24290075 PMID:25168386 PMID:26763875 PMID:28492532 PMID:31587445 More... NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860
JBrowse link
G Ift74 intraflagellar transport 74 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 22 OMIM
ClinVar
PMID:25741868 PMID:27486776 PMID:28492532 PMID:32144365 PMID:33531668 More... NCBI chr 5:109,460,372...109,563,839
Ensembl chr 5:109,474,255...109,563,833
JBrowse link
G Krtcap3 keratinocyte associated protein 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 22 ClinVar PMID:25168386 NCBI chr 6:25,120,938...25,122,522
Ensembl chr 6:25,120,938...25,122,507
JBrowse link
Bardet-Biedl syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl6 ADP-ribosylation factor like GTPase 6 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 3 OMIM
ClinVar
PMID:7987310 PMID:8298649 PMID:9536098 PMID:9714014 PMID:15258860 More... NCBI chr11:40,711,878...40,738,254
Ensembl chr11:40,712,022...40,737,937
JBrowse link
G Epha6 Eph receptor A6 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 3 ClinVar PMID:15258860 PMID:19858128 PMID:20142850 PMID:27486776 PMID:28492532 NCBI chr11:39,757,870...40,708,901
Ensembl chr11:39,757,181...40,698,311
JBrowse link
Bardet-Biedl syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bbs4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 4 OMIM
ClinVar
PMID:388431 PMID:7711739 PMID:9536098 PMID:11381270 PMID:12016587 More... NCBI chr 8:59,731,912...59,765,408
Ensembl chr 8:59,731,912...59,765,607
JBrowse link
Bardet-Biedl syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bbs5 Bardet-Biedl syndrome 5 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 5 OMIM
ClinVar
PMID:15137946 PMID:16199547 PMID:18203199 PMID:21052717 PMID:21209035 More... NCBI chr 3:54,410,429...54,431,831
Ensembl chr 3:54,410,775...54,431,829
JBrowse link
Bardet-Biedl syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mkks MKKS centrosomal shuttling protein ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 6 OMIM
ClinVar
PMID:9536098 PMID:10802661 PMID:10973238 PMID:10973251 PMID:11179009 More... NCBI chr 3:124,201,877...124,221,142
Ensembl chr 3:124,201,877...124,220,162
JBrowse link
Bardet-Biedl Syndrome 6/10, Digenic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bbs10 Bardet-Biedl syndrome 10 ISO ClinVar Annotator: match by term: Bardet-biedl syndrome 6/10, digenic ClinVar PMID:16582908 PMID:20120035 PMID:20805367 PMID:21209035 PMID:24400638 More... NCBI chr 7:46,751,028...46,754,132
Ensembl chr 7:46,750,993...46,754,141
JBrowse link
Bardet-Biedl syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bbs7 Bardet-Biedl syndrome 7 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 7 OMIM
ClinVar
PMID:12567324 PMID:19402160 PMID:20498079 PMID:21209035 PMID:21344540 More... NCBI chr 2:119,434,760...119,474,665
Ensembl chr 2:119,434,760...119,474,396
JBrowse link
Bardet-Biedl syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttc8 tetratricopeptide repeat domain 8 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 8 OMIM
ClinVar
PMID:9536098 PMID:14520415 PMID:16308660 PMID:17576681 PMID:20177705 More... NCBI chr 6:118,198,186...118,252,422
Ensembl chr 6:118,198,201...118,252,418
JBrowse link
Bardet-Biedl syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bbs9 Bardet-Biedl syndrome 9 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 9 | ClinVar Annotator: match by term: Retinal vascular dystrophy OMIM
ClinVar
PMID:9536098 PMID:16380913 PMID:17576681 PMID:20177705 PMID:22353939 More... NCBI chr 8:21,013,865...21,437,934
Ensembl chr 8:21,013,944...21,437,930
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      Bardet-Biedl syndrome 138
        Bardet-Biedl syndrome 1 + 16
        Bardet-Biedl syndrome 10 + 1
        Bardet-Biedl syndrome 11 2
        Bardet-Biedl syndrome 12 1
        Bardet-Biedl syndrome 13 1
        Bardet-Biedl syndrome 14 3
        Bardet-Biedl syndrome 15 1
        Bardet-Biedl syndrome 16 3
        Bardet-Biedl syndrome 17 3
        Bardet-Biedl syndrome 18 1
        Bardet-Biedl syndrome 19 1
        Bardet-Biedl syndrome 2 + 2
        Bardet-Biedl syndrome 20 1
        Bardet-Biedl syndrome 21 1
        Bardet-Biedl syndrome 22 3
        Bardet-Biedl syndrome 3 2
        Bardet-Biedl syndrome 4 + 2
        Bardet-Biedl syndrome 5 1
        Bardet-Biedl syndrome 6 + 3
        Bardet-Biedl syndrome 7 + 1
        Bardet-Biedl syndrome 8 1
        Bardet-Biedl syndrome 9 1
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal recessive disease 4575
                Bardet-Biedl syndrome 138
                  Bardet-Biedl syndrome 1 + 16
                  Bardet-Biedl syndrome 10 + 1
                  Bardet-Biedl syndrome 11 2
                  Bardet-Biedl syndrome 12 1
                  Bardet-Biedl syndrome 13 1
                  Bardet-Biedl syndrome 14 3
                  Bardet-Biedl syndrome 15 1
                  Bardet-Biedl syndrome 16 3
                  Bardet-Biedl syndrome 17 3
                  Bardet-Biedl syndrome 18 1
                  Bardet-Biedl syndrome 19 1
                  Bardet-Biedl syndrome 2 + 2
                  Bardet-Biedl syndrome 20 1
                  Bardet-Biedl syndrome 21 1
                  Bardet-Biedl syndrome 22 3
                  Bardet-Biedl syndrome 3 2
                  Bardet-Biedl syndrome 4 + 2
                  Bardet-Biedl syndrome 5 1
                  Bardet-Biedl syndrome 6 + 3
                  Bardet-Biedl syndrome 7 + 1
                  Bardet-Biedl syndrome 8 1
                  Bardet-Biedl syndrome 9 1
paths to the root