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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 chr13:95,076,308...95,348,913
Ensembl chr13:95,081,390...95,348,913
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 Annotator: match by OMIM:209900
ClinVar PMID:7987310, PMID:8298649, PMID:15258860, PMID:25741868, PMID:15314642 RGD:1578724 NCBI chr11:42,858,476...42,884,324
Ensembl chr11:42,858,478...42,884,603
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, PMID:16606853, PMID:17994549, PMID:19303295, PMID:19349376, PMID:21775502, PMID:22025579, PMID:22981120, PMID:23142638, PMID:23541687, PMID:24033266, PMID:25351777, PMID:25741868, PMID:26467025, PMID:27491411, PMID:28492532, PMID:30311386, PMID:30823891 NCBI chr 5:81,179,614...82,168,528
Ensembl chr 5:81,179,605...82,168,427
JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO DNA:mutations: :multiple (human)
ClinVar Annotator: match by term: Bardet-Biedl syndrome
ClinVar Annotator: match by term: Bardet-Biedl syndrome 1
ClinVar Annotator: match by OMIM:209900
ClinVar PMID:10564830, PMID:12118255, PMID:12524598, PMID:12567324, PMID:12677556, PMID:12837689, PMID:12920096, PMID:15314642, PMID:15770229, PMID:16327777, PMID:17003356, PMID:17980398, PMID:18032602, PMID:18327255, PMID:18669544, PMID:18766993, PMID:20177705, PMID:20498079, PMID:20876674, PMID:21052717, PMID:21344540, PMID:21517826, PMID:21642631, PMID:22410627, PMID:22581970, PMID:22773737, PMID:22940089, PMID:23143442, PMID:23432027, PMID:23559858, PMID:23565731, PMID:23847139, PMID:23943788, PMID:24033266, PMID:24611592, PMID:24746959, PMID:25074776, PMID:25170860, PMID:25326635, PMID:25741868, PMID:25780760, PMID:26467025, PMID:26518167, PMID:26872967, PMID:27032803, PMID:27434533, PMID:27486776, PMID:27659767, PMID:28041643, PMID:28492532, PMID:29099798, PMID:29264490, PMID:29588463, PMID:30259503, PMID:30311386, PMID:30614526, PMID:30718709, PMID:12524598 RGD:1579969 NCBI chr 1:220,146,084...220,165,545
Ensembl chr 1:220,147,327...220,165,678
JBrowse link
G Bbs10 Bardet-Biedl syndrome 10 ISO ClinVar Annotator: match by OMIM:209900
ClinVar Annotator: match by term: Bardet-Biedl syndrome
ClinVar PMID:5982971, PMID:10874630, PMID:11179009, PMID:11567139, PMID:16582908, PMID:16823392, PMID:17106446, PMID:17980398, PMID:19190184, PMID:19797195, PMID:20080638, PMID:20120035, PMID:20177705, PMID:20472660, PMID:20498079, PMID:20805367, PMID:20876674, PMID:21044901, PMID:21052717, PMID:21157496, PMID:21209035, PMID:21344540, PMID:21517826, PMID:21642631, PMID:22353939, PMID:22410627, PMID:22713813, PMID:22773737, PMID:22958920, PMID:22995991, PMID:23591405, PMID:24033266, PMID:24041679, PMID:24400638, PMID:24488770, PMID:24611592, PMID:24746959, PMID:25133751, PMID:25326635, PMID:25366773, PMID:25412400, PMID:25741868, PMID:25982971, PMID:26003401, PMID:26467025, PMID:27032803, PMID:27245532, PMID:27385962, PMID:27449316, PMID:27486776, PMID:27533158, PMID:27659767, PMID:27788217, PMID:27959697, PMID:28041643, PMID:28143435, PMID:28492532, PMID:28808579, PMID:29806606, PMID:30311386, PMID:30614526, PMID:30718709, PMID:31639430, PMID:32361989, PMID:24746959 RGD:11352646 NCBI chr 7:54,030,229...54,034,354
Ensembl chr 7:54,031,316...54,034,350
JBrowse link
G Bbs12 Bardet-Biedl syndrome 12 ISO ClinVar Annotator: match by OMIM:209900
ClinVar Annotator: match by term: Bardet-Biedl syndrome
ClinVar PMID:17160889, PMID:20080638, PMID:20120035, PMID:20472660, PMID:20498079, PMID:20827784, PMID:21209035, PMID:21344540, PMID:21642631, PMID:22025579, PMID:22410627, PMID:22773737, PMID:23591405, PMID:24611592, PMID:25133751, PMID:25741868, PMID:25780760, PMID:25982971, PMID:27004616, PMID:27659767, PMID:27708425, PMID:28492532, PMID:28912962, PMID:30311386, PMID:30614526, PMID:30718709 NCBI chr 2:124,048,513...124,057,026
Ensembl chr 2:124,054,282...124,056,795
JBrowse link
G Bbs2 Bardet-Biedl syndrome 2 ISO ClinVar Annotator: match by OMIM:209900
ClinVar Annotator: match by term: Bardet-Biedl syndrome
DNA:missense, deletion, nonsense mutations:cds:
ClinVar PMID:8298649, PMID:11285252, PMID:11567139, PMID:11886943, PMID:12524598, PMID:12837689, PMID:12920096, PMID:14520415, PMID:15666242, PMID:16877420, PMID:16909204, PMID:17574030, PMID:19402160, PMID:19797195, PMID:20120035, PMID:20177705, PMID:20498079, PMID:21052717, PMID:21157496, PMID:21344540, PMID:21463199, PMID:21642631, PMID:22025579, PMID:22401627, PMID:22410627, PMID:22713813, PMID:22773737, PMID:23432027, PMID:23829372, PMID:24033266, PMID:24349080, PMID:24608809, PMID:24793135, PMID:25133751, PMID:25412400, PMID:25525159, PMID:25533962, PMID:25541840, PMID:25611614, PMID:25741868, PMID:25988237, PMID:25999675, PMID:26078953, PMID:26325687, PMID:26355662, PMID:26467025, PMID:27032803, PMID:27659767, PMID:27708425, PMID:27894351, PMID:28143435, PMID:28387813, PMID:28418496, PMID:28492532, PMID:28559085, PMID:28800606, PMID:29588463, PMID:30293640, PMID:30614526, PMID:30718709, PMID:32436246, PMID:11285252 RGD:70665 NCBI chr19:11,385,921...11,421,523
Ensembl chr19:11,386,024...11,421,498
JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by OMIM:209900
ClinVar Annotator: match by term: Bardet-Biedl syndrome
ClinVar PMID:388431, PMID:7711739, PMID:11381270, PMID:12016587, PMID:12524598, PMID:12872256, PMID:15654695, PMID:17558852, PMID:19402160, PMID:19858128, PMID:20498079, PMID:21344540, PMID:24849935, PMID:25741868, PMID:27208204, PMID:27486776, PMID:28492532, PMID:30614526, PMID:30718709 NCBI chr 8:64,115,005...64,154,432
Ensembl chr 8:64,121,392...64,154,396
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 Annotator: match by OMIM:209900
ClinVar PMID:15137946, PMID:18203199, PMID:20498079, PMID:21209035, PMID:21344540, PMID:22626039, PMID:25741868, PMID:26325687, PMID:28041643, PMID:28492532, PMID:30311386, PMID:30614526, PMID:30718709, PMID:15137946 RGD:1579974 NCBI chr 3:55,886,695...55,907,717
Ensembl chr 3:55,886,695...55,907,716
JBrowse link
G Bbs7 Bardet-Biedl syndrome 7 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:12567324, PMID:20498079, PMID:21209035, PMID:21344540, PMID:21642631, PMID:22302990, PMID:22500027, PMID:23572516, PMID:25741868, PMID:27486776, PMID:28492532, PMID:29970488, PMID:30614526, PMID:30718709, PMID:12567324 RGD:1579975 NCBI chr 2:123,283,402...123,322,991
Ensembl chr 2:123,283,388...123,323,170
JBrowse link
G Bbs9 Bardet-Biedl syndrome 9 ISO DNA:mutations:multiple:
ClinVar Annotator: match by term: Bardet-Biedl syndrome
ClinVar PMID:16380913, PMID:20177705, PMID:20603001, PMID:22500027, PMID:23160099, PMID:23757202, PMID:24849935, PMID:25741868, PMID:28492532, PMID:29096039, PMID:29970488, PMID:30311386, PMID:30614526, PMID:30718709, PMID:16380913 RGD:9684996 NCBI chr 8:23,491,929...24,074,524
Ensembl chr 8:23,492,621...24,074,536
Ensembl chr 8:23,492,621...24,074,536
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 PMID:12677556, PMID:16327777, PMID:29127258, PMID:16327777 RGD:9685059 NCBI chr 5:147,823,446...147,828,449
Ensembl chr 5:147,823,447...147,828,449
JBrowse link
G Cep19 centrosomal protein 19 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:29127258 NCBI chr11:71,921,713...71,938,335
Ensembl chr11:71,921,716...71,938,165
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:18327255, PMID:18414213, PMID:25741868, PMID:28492532 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G Eml5 EMAP like 5 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 6:122,768,939...122,898,046
Ensembl chr 6:122,770,055...122,897,997
JBrowse link
G Gli1 GLI family zinc finger 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:29127258 NCBI chr 7:70,620,794...70,633,171
Ensembl chr 7:70,620,766...70,630,338
JBrowse link
G Higd2al1 HIG1 hypoxia inducible domain family, member 2A-like 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar NCBI chr12:4,546,240...4,546,871 JBrowse link
G Htr2b 5-hydroxytryptamine receptor 2B ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:29127258 NCBI chr 9:93,112,781...93,130,135
Ensembl chr 9:93,112,805...93,125,014
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 6:26,390,686...26,485,459 JBrowse link
G Ift27 intraflagellar transport 27 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:24488770, PMID:25446516, PMID:28492532, PMID:29704304, PMID:30761183 NCBI chr 7:119,393,384...119,409,710
Ensembl chr 7:119,393,384...119,409,710
JBrowse link
G Mkks McKusick-Kaufman syndrome ISO Bardet-Biedl syndrome 6 (BBS6)
ClinVar Annotator: match by term: Bardet-Biedl syndrome
ClinVar Annotator: match by OMIM:209900
ClinVar PMID:2896767, PMID:10802661, PMID:10973238, PMID:10973251, PMID:11179009, PMID:11567139, PMID:12107442, PMID:12920096, PMID:18094050, PMID:20142850, PMID:20472660, PMID:20498079, PMID:21209035, PMID:22353939, PMID:24400638, PMID:25741868, PMID:27491411, PMID:28492532, PMID:29127258, PMID:30311386, PMID:30614526, PMID:30718709, PMID:15483080, PMID:10973251 RGD:1601414, RGD:1581208 NCBI chr 3:129,866,542...129,885,213
Ensembl chr 3:129,866,545...129,884,810
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
PMID:18327255, PMID:25741868, PMID:28492532, PMID:18327255 RGD:11070512 NCBI chr10:75,149,814...75,160,481
Ensembl chr10:75,149,814...75,160,480
JBrowse link
G Nphp1 nephrocystin 1 ISO RGD PMID:24746959 RGD:11352646 NCBI chr 3:120,316,048...120,370,089
Ensembl chr 3:120,316,047...120,373,500
JBrowse link
G Psmd1 proteasome 26S subunit, non-ATPase 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:29127258 NCBI chr 9:93,080,618...93,155,033
Ensembl chr 9:93,080,615...93,155,027
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 6:122,656,500...122,721,496
Ensembl chr 6:122,656,500...122,721,496
JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 NCBI chr 7:40,304,964...40,315,408
Ensembl chr 7:40,304,988...40,316,532
JBrowse link
G Rp9 RP9, pre-mRNA splicing factor ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:23,450,111...23,482,939
Ensembl chr 8:23,450,111...23,482,939
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 chr13:94,888,046...95,100,833
Ensembl chr13:94,888,078...95,112,033
JBrowse link
G Spata7 spermatogenesis associated 7 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 6:122,603,248...122,648,718
Ensembl chr 6:122,603,269...122,648,699
JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISS MouseDO NCBI chr20:37,463,879...37,701,268
Ensembl chr20:37,465,278...37,700,937
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
PMID:16415887, PMID:17397051, PMID:18327255, PMID:18414213, PMID:19574260, PMID:20232449, PMID:21068128, PMID:21866095, PMID:25741868, PMID:26035863, PMID:26092869, PMID:26729329, PMID:28492532, PMID:18327255 RGD:11070512 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link
G Trappc3 trafficking protein particle complex 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar NCBI chr 5:144,281,720...144,295,306
Ensembl chr 5:144,281,614...144,295,331
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 PMID:4269389, PMID:10399877, PMID:11822024, PMID:15786463, PMID:15886712, PMID:16606853, PMID:17994549, PMID:19303295, PMID:19349376, PMID:21775502, PMID:22025579, PMID:22981120, PMID:23142638, PMID:23541687, PMID:24033266, PMID:25351777, PMID:25741868, PMID:26467025, PMID:27491411, PMID:28492532, PMID:30311386, PMID:30823891, PMID:16606853 RGD:1624129 NCBI chr 5:81,431,554...81,449,023
Ensembl chr 5:81,431,600...81,442,451
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 PMID:14520415, PMID:16308660, PMID:21044901, PMID:24033266, PMID:25097241, PMID:25741868, PMID:28492532, PMID:30311386, PMID:30718709, PMID:14520415 RGD:1624198 NCBI chr 6:122,920,308...122,974,525
Ensembl chr 6:122,920,317...122,974,522
JBrowse link
G Wdpcp WD repeat containing planar cell polarity effector ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:20671153, PMID:25741868, PMID:27158779, PMID:28492532, PMID:29588463 NCBI chr14:106,393,959...106,759,511
Ensembl chr14:106,393,959...106,759,505
JBrowse link
G Zc3h14 zinc finger CCCH type containing 14 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 6:122,729,834...122,767,462
Ensembl chr 6:122,729,874...122,767,462
JBrowse link
G Zdhhc24 zinc finger, DHHC-type containing 24 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Bardet-Biedl syndrome
ClinVar PMID:10564830, PMID:12118255, PMID:12524598, PMID:12677556, PMID:12837689, PMID:12920096, PMID:15314642, PMID:15770229, PMID:16327777, PMID:17003356, PMID:17980398, PMID:18032602, PMID:18669544, PMID:18766993, PMID:20177705, PMID:20498079, PMID:20876674, PMID:21052717, PMID:21344540, PMID:21517826, PMID:21642631, PMID:22410627, PMID:22581970, PMID:22773737, PMID:22940089, PMID:23143442, PMID:23432027, PMID:23565731, PMID:23847139, PMID:23943788, PMID:24033266, PMID:24746959, PMID:25074776, PMID:25170860, PMID:25326635, PMID:25741868, PMID:26467025, PMID:26518167, PMID:26872967, PMID:27032803, PMID:27434533, PMID:27659767, PMID:28041643, PMID:28492532, PMID:29099798, PMID:29264490, PMID:30259503, PMID:30311386, PMID:30614526, PMID:30718709 NCBI chr 1:220,137,280...220,143,387
Ensembl chr 1:220,137,257...220,144,319
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 chr11:42,858,476...42,884,324
Ensembl chr11:42,858,478...42,884,603
JBrowse link
G Bbip1 BBSome interacting protein 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:24026985 NCBI chr 1:274,649,085...274,663,544
Ensembl chr 1:274,649,490...274,650,363
JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar
OMIM
PMID:10564830, PMID:12118255, PMID:12524598, PMID:12567324, PMID:12677556, PMID:12837689, PMID:12920096, PMID:15314642, PMID:15666242, PMID:15770229, PMID:16327777, PMID:16582908, PMID:16877420, PMID:17003356, PMID:17980398, PMID:18032602, PMID:18669544, PMID:18766993, PMID:19797195, PMID:20120035, PMID:20177705, PMID:20498079, PMID:20876674, PMID:21052717, PMID:21258341, PMID:21344540, PMID:21517826, PMID:21520335, PMID:21642631, PMID:22353939, PMID:22410627, PMID:22581970, PMID:22773737, PMID:22940089, PMID:23143442, PMID:23432027, PMID:23565731, PMID:23847139, PMID:23943788, PMID:24033266, PMID:24400638, PMID:24746959, PMID:25170860, PMID:25326635, PMID:25741868, PMID:26261414, PMID:26467025, PMID:26518167, PMID:26566502, PMID:26872967, PMID:27032803, PMID:27434533, PMID:27659767, PMID:28041643, PMID:28143435, PMID:28492532, PMID:29264490, PMID:29588463, PMID:30259503, PMID:30311386, PMID:30614526, PMID:30718709 NCBI chr 1:220,146,084...220,165,545
Ensembl chr 1:220,147,327...220,165,678
JBrowse link
G Bbs10 Bardet-Biedl syndrome 10 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:10874630, PMID:11179009, PMID:11567139, PMID:16582908, PMID:16823392, PMID:17106446, PMID:17980398, PMID:20080638, PMID:20120035, PMID:20177705, PMID:20472660, PMID:20498079, PMID:20805367, PMID:20876674, PMID:21044901, PMID:21209035, PMID:21344540, PMID:21642631, PMID:22353939, PMID:22713813, PMID:22773737, PMID:23591405, PMID:24033266, PMID:24400638, PMID:24746959, PMID:25366773, PMID:25741868, PMID:25982971, PMID:26467025, PMID:27385962, PMID:27449316, PMID:27486776, PMID:28041643, PMID:28492532, PMID:30311386, PMID:30614526, PMID:30718709 NCBI chr 7:54,030,229...54,034,354
Ensembl chr 7:54,031,316...54,034,350
JBrowse link
G Bbs12 Bardet-Biedl syndrome 12 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:22025579, PMID:22773737, PMID:25741868, PMID:25780760, PMID:28492532 NCBI chr 2:124,048,513...124,057,026
Ensembl chr 2:124,054,282...124,056,795
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, PMID:26467025, PMID:28492532 NCBI chr19:11,385,921...11,421,523
Ensembl chr19:11,386,024...11,421,498
JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:25741868, PMID:28492532 NCBI chr 8:64,115,005...64,154,432
Ensembl chr 8:64,121,392...64,154,396
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 2:123,283,402...123,322,991
Ensembl chr 2:123,283,388...123,323,170
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 8:23,491,929...24,074,524
Ensembl chr 8:23,492,621...24,074,536
Ensembl chr 8:23,492,621...24,074,536
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 5:147,823,446...147,828,449
Ensembl chr 5:147,823,447...147,828,449
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 8:132,774,393...132,790,922
Ensembl chr 8:132,775,587...132,790,839
JBrowse link
G Mkks McKusick-Kaufman syndrome ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1, modifier of ClinVar PMID:12837689 NCBI chr 3:129,866,542...129,885,213
Ensembl chr 3:129,866,545...129,884,810
JBrowse link
G Stx3 syntaxin 3 ISO RGD PMID:26216965 RGD:11532386 NCBI chr 1:228,137,781...228,195,004
Ensembl chr 1:228,149,867...228,194,977
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO RGD PMID:26216965 RGD:11532386 NCBI chr 3:11,823,779...11,885,479
Ensembl chr 3:11,823,785...11,885,417
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 chr14:106,393,959...106,759,511
Ensembl chr14:106,393,959...106,759,505
JBrowse link
G Zdhhc24 zinc finger, DHHC-type containing 24 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:10564830, PMID:12118255, PMID:12524598, PMID:12677556, PMID:12837689, PMID:12920096, PMID:15314642, PMID:15666242, PMID:15770229, PMID:16327777, PMID:16582908, PMID:16877420, PMID:17003356, PMID:17980398, PMID:18032602, PMID:18669544, PMID:18766993, PMID:20177705, PMID:20498079, PMID:20876674, PMID:21052717, PMID:21258341, PMID:21344540, PMID:21517826, PMID:21642631, PMID:22410627, PMID:22581970, PMID:22773737, PMID:22940089, PMID:23143442, PMID:23432027, PMID:23565731, PMID:23847139, PMID:23943788, PMID:24033266, PMID:24400638, PMID:24746959, PMID:25170860, PMID:25326635, PMID:25741868, PMID:26467025, PMID:26518167, PMID:26566502, PMID:26872967, PMID:27032803, PMID:27434533, PMID:27659767, PMID:28041643, PMID:28143435, PMID:28492532, PMID:29264490, PMID:30259503, PMID:30311386, PMID:30614526, PMID:30718709 NCBI chr 1:220,137,280...220,143,387
Ensembl chr 1:220,137,257...220,144,319
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:11567139, PMID:19402160, PMID:20498079, PMID:21344540, PMID:21642631, PMID:22410627, PMID:23829372, PMID:25541840, PMID:25741868, PMID:28492532 NCBI chr19:11,385,921...11,421,523
Ensembl chr19:11,386,024...11,421,498
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, PMID:28492532 NCBI chr 2:123,283,402...123,322,991
Ensembl chr 2:123,283,388...123,323,170
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 ClinVar
OMIM
PMID:10874630, PMID:11179009, PMID:11567139, PMID:16582908, PMID:16823392, PMID:17106446, PMID:17980398, PMID:19190184, PMID:19797195, PMID:20080638, PMID:20120035, PMID:20177705, PMID:20472660, PMID:20498079, PMID:20805367, PMID:20876674, PMID:21044901, PMID:21052717, PMID:21157496, PMID:21209035, PMID:21344540, PMID:21463199, PMID:21517826, PMID:21642631, PMID:22353939, PMID:22410627, PMID:22713813, PMID:22773737, PMID:22958920, PMID:22995991, PMID:23591405, PMID:24033266, PMID:24041679, PMID:24400638, PMID:24488770, PMID:24611592, PMID:24746959, PMID:25133751, PMID:25170860, PMID:25326635, PMID:25366773, PMID:25412400, PMID:25741868, PMID:25982971, PMID:25988237, PMID:26003401, PMID:26467025, PMID:26518167, PMID:27032803, PMID:27245532, PMID:27385962, PMID:27449316, PMID:27486776, PMID:27533158, PMID:27659767, PMID:27788217, PMID:27959697, PMID:28041643, PMID:28143435, PMID:28492532, PMID:28808579, PMID:29806606, PMID:30311386, PMID:30614526, PMID:30718709 NCBI chr 7:54,030,229...54,034,354
Ensembl chr 7:54,031,316...54,034,350
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:16606853, PMID:17994549, PMID:22025579, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 5:81,179,614...82,168,528
Ensembl chr 5:81,179,605...82,168,427
JBrowse link
G Trim32 tripartite motif-containing 32 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 11 OMIM
ClinVar
PMID:16606853, PMID:17994549, PMID:22025579, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 5:81,431,554...81,449,023
Ensembl chr 5:81,431,600...81,442,451
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 ClinVar
OMIM
PMID:17160889, PMID:20080638, PMID:20120035, PMID:20472660, PMID:20498079, PMID:20648243, PMID:20827784, PMID:21052717, PMID:21344540, PMID:21642631, PMID:22025579, PMID:22410627, PMID:22773737, PMID:23591405, PMID:24611592, PMID:25133751, PMID:25741868, PMID:25780760, PMID:25982971, PMID:27004616, PMID:27659767, PMID:27708425, PMID:28492532, PMID:28912962, PMID:30311386, PMID:30614526, PMID:30718709 NCBI chr 2:124,048,513...124,057,026
Ensembl chr 2:124,054,282...124,056,795
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 ClinVar
OMIM
PMID:16415886, PMID:17185389, PMID:17377820, PMID:17397051, PMID:17437276, PMID:18327255, PMID:18414213, PMID:19430481, PMID:21068128, PMID:21228398, PMID:21258341, PMID:23351400, PMID:23736532, PMID:24033266, PMID:24608809, PMID:24886560, PMID:25741868, PMID:25966130, PMID:26092869, PMID:26490104, PMID:27570071, PMID:28224992, PMID:28492532, PMID:28497568, PMID:28981474, PMID:30311386, PMID:30718709 NCBI chr10:75,149,814...75,160,481
Ensembl chr10:75,149,814...75,160,480
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 ClinVar
OMIM
PMID:16909394, PMID:17345604, PMID:17564967, PMID:17617513, PMID:17964524, PMID:18327255, PMID:18414213, PMID:20683928, PMID:20690115, PMID:21153841, PMID:21602930, PMID:21866095, PMID:23188109, PMID:23344081, PMID:23351400, PMID:24265693, PMID:25097241, PMID:25741868, PMID:25920555, PMID:26047050, PMID:26092869, PMID:26467025, PMID:26477546, PMID:28492532, PMID:28497568, PMID:28829391, PMID:29398085, PMID:30311386, PMID:30718709 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 ClinVar PMID:28492532 NCBI chr 7:40,304,964...40,315,408
Ensembl chr 7:40,304,988...40,316,532
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:10508989, PMID:17397051, PMID:18327255, PMID:18414213, PMID:19466712, PMID:19508969, PMID:19540516, PMID:19574260, PMID:19778711, PMID:20232449, PMID:20607301, PMID:21068128, PMID:21866095, PMID:23559409, PMID:25729630, PMID:25741868, PMID:25920555, PMID:26035863, PMID:26092869, PMID:26729329, PMID:27491411, PMID:28492532, PMID:29127258, PMID:30311386 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
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 ClinVar
OMIM
PMID:20671153, PMID:25326635, PMID:25427950, PMID:25741868, PMID:27158779, PMID:28492532, PMID:32860008 NCBI chr14:106,393,959...106,759,511
Ensembl chr14:106,393,959...106,759,505
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 chr13:95,076,308...95,348,913
Ensembl chr13:95,081,390...95,348,913
JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 16 OMIM
ClinVar
PMID:20835237, PMID:22190896, PMID:22626039, PMID:23188109, PMID:25741868, PMID:28492532 NCBI chr13:94,888,046...95,100,833
Ensembl chr13:94,888,078...95,112,033
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 OMIM:615994
ClinVar Annotator: match by term: Bardet-Biedl syndrome 17
ClinVar
OMIM
PMID:22510444, PMID:23692385, PMID:25741868 NCBI chr 8:132,774,393...132,790,922
Ensembl chr 8:132,775,587...132,790,839
JBrowse link
G Stx3 syntaxin 3 ISO protein:increased expression:photoreceptor outer segment layer RGD PMID:26216965 RGD:11532386 NCBI chr 1:228,137,781...228,195,004
Ensembl chr 1:228,149,867...228,194,977
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO protein:increased expression:photoreceptor outer segment layer RGD PMID:26216965 RGD:11532386 NCBI chr 3:11,823,779...11,885,479
Ensembl chr 3:11,823,785...11,885,417
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
ClinVar Annotator: match by term: Bardet-Biedl syndrome 18
ClinVar
OMIM
PMID:24026985, PMID:25741868, PMID:28492532 NCBI chr 1:274,649,085...274,663,544
Ensembl chr 1:274,649,490...274,650,363
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 ClinVar
OMIM
PMID:24488770 NCBI chr 7:119,393,384...119,409,710
Ensembl chr 7:119,393,384...119,409,710
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 ClinVar
OMIM
PMID:8298649, PMID:11285252, PMID:11567139, PMID:12524598, PMID:12677556, PMID:12837689, PMID:12920096, PMID:14520415, PMID:15666242, PMID:15770229, PMID:16582908, PMID:16823392, PMID:16877420, PMID:16909204, PMID:17574030, PMID:19402160, PMID:19797195, PMID:20120035, PMID:20177705, PMID:20498079, PMID:20618352, PMID:21052717, PMID:21157496, PMID:21344540, PMID:21642631, PMID:22025579, PMID:22353939, PMID:22401627, PMID:22410627, PMID:22713813, PMID:22773737, PMID:22981120, PMID:23432027, PMID:23829372, PMID:24033266, PMID:24154662, PMID:24349080, PMID:24608809, PMID:24793135, PMID:25133751, PMID:25412400, PMID:25525159, PMID:25533962, PMID:25541840, PMID:25611614, PMID:25741868, PMID:25988237, PMID:25999675, PMID:26078953, PMID:26325687, PMID:26355662, PMID:26467025, PMID:26518167, PMID:27032803, PMID:27058611, PMID:27353947, PMID:27659767, PMID:27708425, PMID:27894351, PMID:28005958, PMID:28143435, PMID:28374938, PMID:28387813, PMID:28418496, PMID:28492532, PMID:28559085, PMID:28800606, PMID:29588463, PMID:30293640, PMID:30718709, PMID:32436246 NCBI chr19:11,385,921...11,421,523
Ensembl chr19:11,386,024...11,421,498
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:27894351, PMID:28492532 NCBI chr19:11,385,921...11,421,523
Ensembl chr19:11,386,024...11,421,498
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:11567139, PMID:20120035, PMID:20177705, PMID:20498079, PMID:21344540, PMID:25741868, PMID:28492532, PMID:30718709 NCBI chr19:11,385,921...11,421,523
Ensembl chr19:11,386,024...11,421,498
JBrowse link
G Mkks McKusick-Kaufman syndrome ISO ClinVar Annotator: match by term: Bardet-biedl syndrome 2/6, digenic ClinVar PMID:10802661, PMID:10973251, PMID:11567139, PMID:18094050, PMID:20498079, PMID:22446187, PMID:25741868, PMID:28492532 NCBI chr 3:129,866,542...129,885,213
Ensembl chr 3:129,866,545...129,884,810
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 ClinVar
OMIM
PMID:7987310, PMID:8298649, PMID:9714014, PMID:15258860, PMID:15314642, PMID:17160889, PMID:19236846, PMID:20177705, PMID:25741868, PMID:28492532 NCBI chr11:42,858,476...42,884,324
Ensembl chr11:42,858,478...42,884,603
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 ClinVar
OMIM
PMID:388431, PMID:7711739, PMID:11381270, PMID:12016587, PMID:12524598, PMID:12872256, PMID:15654695, PMID:15666242, PMID:19858128, PMID:20498079, PMID:21344540, PMID:25741868, PMID:26518167, PMID:27208204, PMID:28492532, PMID:29039417 NCBI chr 8:64,115,005...64,154,432
Ensembl chr 8:64,121,392...64,154,396
JBrowse link
G Higd2al1 HIG1 hypoxia inducible domain family, member 2A-like 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 4 ClinVar PMID:25741868 NCBI chr12:4,546,240...4,546,871 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 ClinVar
OMIM
PMID:15137946, PMID:18203199, PMID:22626039, PMID:25741868, PMID:26325687, PMID:28492532, PMID:30718709 NCBI chr 3:55,886,695...55,907,717
Ensembl chr 3:55,886,695...55,907,716
JBrowse link
Bardet-Biedl syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mkks McKusick-Kaufman syndrome ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 6 ClinVar
OMIM
PMID:10802661, PMID:10973251, PMID:11179009, PMID:11567139, PMID:12107442, PMID:12920096, PMID:15637713, PMID:18094050, PMID:20472660, PMID:20498079, PMID:22446187, PMID:25741868, PMID:27491411, PMID:28492532, PMID:28761321, PMID:29127258, PMID:30311386 NCBI chr 3:129,866,542...129,885,213
Ensembl chr 3:129,866,545...129,884,810
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:10874630, PMID:11179009, PMID:11567139, PMID:16582908, PMID:16823392, PMID:17980398, PMID:20080638, PMID:20120035, PMID:20177705, PMID:20498079, PMID:20805367, PMID:20876674, PMID:21209035, PMID:21344540, PMID:21642631, PMID:22353939, PMID:22713813, PMID:24400638, PMID:24746959, PMID:25741868, PMID:26467025, PMID:27385962, PMID:28041643, PMID:28492532, PMID:30311386, PMID:30614526, PMID:30718709 NCBI chr 7:54,030,229...54,034,354
Ensembl chr 7:54,031,316...54,034,350
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 ClinVar
OMIM
PMID:12567324, PMID:20498079, PMID:21344540, PMID:21937992, PMID:22302990, PMID:25741868, PMID:26518167, PMID:28492532, PMID:30614526, PMID:30718709 NCBI chr 2:123,283,402...123,322,991
Ensembl chr 2:123,283,388...123,323,170
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 ClinVar
OMIM
PMID:14520415, PMID:16308660, PMID:21044901, PMID:24033266, PMID:25097241, PMID:25741868, PMID:28492532, PMID:30311386, PMID:30718709 NCBI chr 6:122,920,308...122,974,525
Ensembl chr 6:122,920,317...122,974,522
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
ClinVar
OMIM
PMID:16380913, PMID:22353939, PMID:23160099, PMID:23757202, PMID:25741868, PMID:26518167, PMID:28492532, PMID:30311386, PMID:30614526, PMID:30718709 NCBI chr 8:23,491,929...24,074,524
Ensembl chr 8:23,492,621...24,074,536
Ensembl chr 8:23,492,621...24,074,536
JBrowse link
Bardet-Biedl Syndrome, 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift74 intraflagellar transport 74 ISO ClinVar Annotator: match by term: BARDET-BIEDL SYNDROME 20 ClinVar
OMIM
PMID:27486776 NCBI chr 5:113,579,065...113,682,485
Ensembl chr 5:113,592,919...113,682,484
JBrowse link
Bardet-Biedl Syndrome, 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MGC94199 similar to RIKEN cDNA 2610301B20; EST AI428449 ISO ClinVar Annotator: match by term: BARDET-BIEDL SYNDROME 21
ClinVar Annotator: match by term: Bardet-Biedl syndrome 21
ClinVar
OMIM
PMID:22177090, PMID:25741868, PMID:26854863, PMID:27008867, PMID:29127258 NCBI chr 5:24,145,829...24,165,467
NCBI chr 5:23,358,464...23,377,697
Ensembl chr 5:23,358,841...23,377,651
Ensembl chr 5:23,358,841...23,377,651
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Bardet-Biedl syndrome 43
        Bardet-Biedl Syndrome, 20 1
        Bardet-Biedl Syndrome, 21 1
        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 2
        Bardet-Biedl syndrome 17 3
        Bardet-Biedl syndrome 18 1
        Bardet-Biedl syndrome 19 1
        Bardet-Biedl syndrome 2 + 2
        Bardet-Biedl syndrome 3 1
        Bardet-Biedl syndrome 4 + 3
        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 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          brain disease 8346
            thalamic disease 195
              hypothalamic disease 195
                Bardet-Biedl syndrome 43
                  Bardet-Biedl Syndrome, 20 1
                  Bardet-Biedl Syndrome, 21 1
                  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 2
                  Bardet-Biedl syndrome 17 3
                  Bardet-Biedl syndrome 18 1
                  Bardet-Biedl syndrome 19 1
                  Bardet-Biedl syndrome 2 + 2
                  Bardet-Biedl syndrome 3 1
                  Bardet-Biedl syndrome 4 + 3
                  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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.