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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:ciliopathy
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Accession:DOID:0060340 term browser browse the term
Definition:A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia. (DO)
Synonyms:exact_synonym: ciliopathies
 primary_id: MESH:D000072661
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
ciliopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cibar1 CBY1 interacting BAR domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30395363 NCBI chr 5:25,732,457...25,750,953
Ensembl chr 5:25,732,644...25,750,826
JBrowse link
G Ift81 intraflagellar transport 81 ISO ClinVar Annotator: match by term: Ciliopathy ClinVar PMID:26275418, PMID:28492532 NCBI chr12:39,420,161...39,507,412
Ensembl chr12:39,423,596...39,506,890
JBrowse link
G Kif7 kinesin family member 7 ISS MouseDO NCBI chr 1:141,434,183...141,452,592
Ensembl chr 1:141,434,625...141,451,075
JBrowse link
G Nek4 NIMA-related kinase 4 ISO ClinVar Annotator: match by term: Ciliopathy ClinVar NCBI chr16:7,035,002...7,080,272
Ensembl chr16:7,035,068...7,075,554
JBrowse link
G Sclt1 sodium channel and clathrin linker 1 ISS MouseDO NCBI chr 2:128,523,376...128,675,668
Ensembl chr 2:128,523,636...128,675,408
JBrowse link
G Tmem231 transmembrane protein 231 ISO ClinVar Annotator: match by term: Ciliopathy ClinVar PMID:25741868 NCBI chr19:44,137,444...44,158,624
Ensembl chr19:44,137,423...44,158,624
JBrowse link
G Wdr11 WD repeat domain 11 ISS MouseDO NCBI chr 1:202,770,810...202,816,336
Ensembl chr 1:202,770,775...202,816,334
JBrowse link
G Wdr19 WD repeat domain 19 ISO
ISS
DNA:missense mutation:cds:p.L750P (mouse) MouseDO PMID:22228095 RGD:11552606 NCBI chr14:44,705,012...44,767,120
Ensembl chr14:44,705,012...44,767,120
JBrowse link
Alstrom syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alms1 ALMS1, centrosome and basal body associated protein susceptibility ISO DNA:frameshift mutations, nonsense mutations
ClinVar Annotator: match by term: Alstrom syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:203800
DNA:frameshift mutations, nonsense mutations, missense mutations:multiple
DNA:nonsense mutations, frameshift mutation, missense mutation:multiple
ClinVar
CTD
OMIM
PMID:9063741, PMID:9409865, PMID:11941369, PMID:11941370, PMID:15689433, PMID:16720663, PMID:17594715, PMID:17850632, PMID:18038714, PMID:18154657, PMID:18414213, PMID:19763152, PMID:20307669, PMID:21157496, PMID:21877133, PMID:21897446, PMID:21901789, PMID:21943378, PMID:22406018, PMID:22447358, PMID:22555271, PMID:22773737, PMID:22876109, PMID:23188138, PMID:23847139, PMID:24033266, PMID:24049434, PMID:24400638, PMID:24462884, PMID:24595103, PMID:25296579, PMID:25468891, PMID:25533962, PMID:25706677, PMID:25741868, PMID:25846608, PMID:25999675, PMID:26010121, PMID:26047050, PMID:26104972, PMID:26111748, PMID:26239645, PMID:26283575, PMID:26285675, PMID:26467025, PMID:26636822, PMID:26992781, PMID:27178444, PMID:27665122, PMID:28402684, PMID:28432734, PMID:28492532, PMID:28502102, PMID:28717663, PMID:29079548, PMID:29345162, PMID:29610177, PMID:29715191, PMID:32581362, PMID:11941369, PMID:16720663, PMID:22876109, PMID:16000322, PMID:16513793 RGD:1601169, RGD:8696018, RGD:8696016, RGD:8696015, RGD:8696013 NCBI chr 4:117,371,544...117,472,310
Ensembl chr 4:117,371,659...117,472,198
JBrowse link
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
Caroli disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angpt2 angiopoietin 2 IEP protein:increased expression:bile duct (rat) RGD PMID:16628643 RGD:2314213 NCBI chr16:75,966,480...76,016,147
Ensembl chr16:75,966,352...76,016,195
JBrowse link
G Ttc26 tetratricopeptide repeat domain 26 ISO ClinVar Annotator: match by term: Caroli disease ClinVar NCBI chr 4:66,090,178...66,147,998
Ensembl chr 4:66,090,209...66,148,001
JBrowse link
G Wdr19 WD repeat domain 19 ISO associated with Nephronophthisis 13;DNA:missense mutations:cds:multiple (human) RGD PMID:25726036 RGD:11528287 NCBI chr14:44,705,012...44,767,120
Ensembl chr14:44,705,012...44,767,120
JBrowse link
Ciliary Motility Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnaaf3 dynein, axonemal, assembly factor 3 ISO ClinVar Annotator: match by term: Immotile cilia syndrome ClinVar PMID:22876777, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 1:72,874,131...72,882,867
Ensembl chr 1:72,874,404...72,883,002
JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISO ClinVar Annotator: match by term: Immotile cilia syndrome ClinVar PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 6:145,784,893...146,099,212
Ensembl chr 6:145,785,275...146,099,053
JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 ISO ClinVar Annotator: match by term: Immotile cilia syndrome ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 2:80,947,730...81,143,997
NCBI chr 2:81,159,060...81,337,560
Ensembl chr 2:80,948,658...81,143,447
JBrowse link
G Ift122 intraflagellar transport 122 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20493458 NCBI chr 4:147,756,574...147,826,983
Ensembl chr 4:147,756,553...147,826,997
JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO CTD Direct Evidence: marker/mechanism CTD PMID:19668215, PMID:19668216 NCBI chr 3:3,843,307...3,856,154
Ensembl chr 3:3,843,307...3,855,981
JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO associated with Retinitis Pigmentosa 3;DNA:exon, intron:g.631_IVS6+9del (human) RGD PMID:16055928 RGD:1599600 NCBI chr  X:14,271,012...14,331,745
Ensembl chr  X:14,271,017...14,331,486
JBrowse link
G Rpgrip1l Rpgrip1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:17558407, PMID:17558409 NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Immotile cilia syndrome ClinVar PMID:22876777, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 1:72,882,806...72,886,490
Ensembl chr 1:72,882,806...72,886,488
JBrowse link
Joubert syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:15322546, PMID:16155189, PMID:16453322, PMID:17409309, PMID:18054307, PMID:18414213, PMID:21068128, PMID:21623382, PMID:22236771, PMID:22693042, PMID:22773737, PMID:24690944, PMID:25326637, PMID:25356976, PMID:25616960, PMID:25741868, PMID:25920555, PMID:26035799, PMID:26035800, PMID:26092869, PMID:26467025, PMID:28431631, PMID:28442542, PMID:28492532 NCBI chr 1:16,478,127...16,601,769
Ensembl chr 1:16,478,127...16,601,769
JBrowse link
G Arl13b ADP-ribosylation factor like GTPase 13B ISO ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders ClinVar NCBI chr 7:1,122,567...1,188,209
Ensembl chr 7:1,122,567...1,188,209
JBrowse link
G Armc9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532, PMID:28625504 NCBI chr 9:93,172,718...93,299,119
Ensembl chr 9:93,172,673...93,296,750
JBrowse link
G Atoh1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868, PMID:30311386 NCBI chr 4:95,498,003...95,500,098
Ensembl chr 4:95,498,003...95,500,089
JBrowse link
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 ISO ClinVar Annotator: match by term: Joubert syndrome
ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar PMID:25741868, PMID:28492532 NCBI chr12:37,368,321...37,398,233
Ensembl chr12:37,363,906...37,425,596
JBrowse link
G B9d1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar Annotator: match by term: Joubert syndrome
ClinVar PMID:21493627, PMID:24886560, PMID:25741868, PMID:25920555, PMID:26092869, PMID:26477546, PMID:28492532 NCBI chr10:47,784,294...47,794,399
Ensembl chr10:47,785,033...47,792,590
Ensembl chr10:47,785,033...47,792,590
JBrowse link
G B9d2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868, PMID:26092869, PMID:28492532 NCBI chr 1:82,473,254...82,479,704
Ensembl chr 1:82,473,737...82,479,900
JBrowse link
G C2cd3 C2 domain containing 3 centriole elongation regulator ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:24997988, PMID:25741868, PMID:26092869 NCBI chr 1:165,382,279...165,480,088
Ensembl chr 1:165,382,690...165,479,655
JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar Annotator: match by term: Joubert syndrome
ClinVar PMID:18414213, PMID:18950740, PMID:19466712, PMID:19574260, PMID:19777577, PMID:21068128, PMID:21370303, PMID:22241855, PMID:22246503, PMID:22425360, PMID:22995991, PMID:23012439, PMID:23692786, PMID:24033266, PMID:25741868, PMID:26092869, PMID:26467025, PMID:26477546, PMID:26485645, PMID:26673778, PMID:27081510, PMID:27082236, PMID:27848944, PMID:27894351, PMID:28492532, PMID:30267408, PMID:30311386 NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar Annotator: match by term: Joubert syndrome
ClinVar PMID:16682970, PMID:16682973, PMID:16909394, PMID:17345604, PMID:17409309, PMID:17564967, PMID:17564974, PMID:17617513, PMID:17705300, PMID:17964524, PMID:18414213, PMID:19466712, PMID:19764032, PMID:20079931, PMID:20683928, PMID:20690115, PMID:21068128, PMID:21153841, PMID:21245082, PMID:21493627, PMID:21602930, PMID:21866095, PMID:22334370, PMID:22355252, PMID:22693042, PMID:22699515, PMID:23027964, PMID:23188109, PMID:23344081, PMID:23351400, PMID:23559409, PMID:23591405, PMID:23847139, PMID:23954617, PMID:24265693, PMID:24850569, PMID:25097241, PMID:25377065, PMID:25445212, PMID:25741868, PMID:25818971, PMID:25920555, PMID:26047050, PMID:26092869, PMID:26467025, PMID:26477546, PMID:26667666, PMID:26673778, PMID:27032803, PMID:27353947, PMID:27422788, PMID:27491411, PMID:27821535, PMID:27848944, PMID:28041643, PMID:28157192, PMID:28224992, PMID:28453600, PMID:28492532, PMID:28497568, PMID:28510626, PMID:28559085, PMID:28660274, PMID:28771248, PMID:28829391, PMID:28973549, PMID:29146704, PMID:29178642, PMID:29186038, PMID:29343940, PMID:29398085, PMID:29588463, PMID:29844330, PMID:29970488, PMID:30193310, 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 Cep41 centrosomal protein 41 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868 NCBI chr 4:57,966,783...58,006,931
Ensembl chr 4:57,966,783...58,006,839
JBrowse link
G Cluap1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28679688 NCBI chr10:11,847,058...11,878,792
Ensembl chr10:11,847,102...11,878,792
JBrowse link
G Cplane1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:22425360, PMID:24033266, PMID:25407461, PMID:25741868, PMID:26092869, PMID:28125082, PMID:28492532, PMID:30311386 NCBI chr 2:57,274,175...57,350,003
NCBI chr 2:57,444,373...57,472,465
Ensembl chr 2:57,276,919...57,348,481
JBrowse link
G Cyb561a3 cytochrome b561 family, member A3 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar NCBI chr 1:226,620,933...226,642,246
Ensembl chr 1:226,634,009...226,642,243
JBrowse link
G Exoc8 exocyst complex component 8 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:22700954 NCBI chr19:57,647,305...57,649,794
Ensembl chr19:57,647,291...57,649,827
JBrowse link
G Fam149b1 family with sequence similarity 149, member B1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:30905400 NCBI chr15:4,361,860...4,399,746
Ensembl chr15:4,361,862...4,399,685
JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar NCBI chr19:16,774,549...17,115,098
Ensembl chr19:16,772,744...17,115,113
JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:24140113, PMID:26092869 NCBI chr 6:26,390,686...26,485,459 JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar Annotator: match by term: Joubert syndrome
DNA:missense mutations, nonsense mutation:exon:multiple
ClinVar PMID:15786477, PMID:18414213, PMID:19668215, PMID:19668216, PMID:23034536, PMID:23386033, PMID:23847139, PMID:25133751, PMID:25741868, PMID:25818971, PMID:26092869, PMID:27081510, PMID:28492532, PMID:28559085, PMID:29052317, PMID:29186038, PMID:29230161, PMID:29555955, PMID:30202406, PMID:23386033 RGD:12911208 NCBI chr 3:3,843,307...3,856,154
Ensembl chr 3:3,843,307...3,855,981
JBrowse link
G Katnip katanin interacting protein ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:26714646 NCBI chr 1:197,098,621...197,265,840
Ensembl chr 1:197,098,603...197,265,840
JBrowse link
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:21633164, PMID:25741868 NCBI chr 1:141,434,183...141,452,592
Ensembl chr 1:141,434,625...141,451,075
JBrowse link
G Kitlg KIT ligand ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:19764032, PMID:23954617, PMID:27821535, PMID:28492532 NCBI chr 7:42,269,784...42,351,054
Ensembl chr 7:42,269,784...42,351,054
JBrowse link
G LOC500827 similar to hypothetical protein FLJ35821 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:19764032, PMID:23954617, PMID:27821535, PMID:28492532 NCBI chr 7:40,316,165...40,350,482
Ensembl chr 7:40,316,639...40,350,474
JBrowse link
G LOC690035 similar to Protein KIAA0586 ISO ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar Annotator: match by term: Joubert syndrome
ClinVar PMID:24033266, PMID:25741868, PMID:26026149, PMID:26096313, PMID:26386044, PMID:26386247, PMID:26437029, PMID:28125082, PMID:28492532, PMID:29068549, PMID:30120217, PMID:30311386, PMID:32581362 NCBI chr 6:93,562,775...93,667,857
Ensembl chr 6:93,563,446...93,667,675
JBrowse link
G Lrrc34 leucine rich repeat containing 34 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar NCBI chr 2:116,370,013...116,391,964
Ensembl chr 2:116,372,519...116,391,959
JBrowse link
G Lrrcc1 leucine rich repeat and coiled-coil centrosomal protein 1 ISO ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders ClinVar NCBI chr 2:88,384,796...88,414,012
Ensembl chr 2:88,384,796...88,414,012
JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16415886, PMID:17185389, PMID:17377820, PMID:17397051, PMID:17437276, PMID:17935508, PMID:18327255, PMID:19430481, PMID:19466712, 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:26862157, PMID:27377014, PMID:27570071, PMID:28224992, PMID:28492532, PMID:28497568, PMID:30311386, PMID:30718709 NCBI chr10:75,149,814...75,160,481
Ensembl chr10:75,149,814...75,160,480
JBrowse link
G Ofd1 OFD1, centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:11179005, PMID:12595504, PMID:16311594, PMID:16783569, PMID:18414213, PMID:18546297, PMID:23033313, PMID:24476948, PMID:24884629, PMID:25741868, PMID:26467025, PMID:27081566, PMID:28289185, PMID:28492532 NCBI chr  X:29,562,165...29,602,934
Ensembl chr  X:29,562,165...29,602,925
JBrowse link
G Pdpr pyruvate dehydrogenase phosphatase regulatory subunit ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25558065, PMID:27894351 NCBI chr19:43,107,852...43,149,243
Ensembl chr19:43,109,427...43,149,210
JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868, PMID:26167768 NCBI chr15:83,494,110...83,663,202
Ensembl chr15:83,495,377...83,663,143
JBrowse link
G Rcor1 REST corepressor 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:26489029 NCBI chr 6:135,475,470...135,552,155
Ensembl chr 6:135,513,650...135,548,201
Ensembl chr 6:135,513,650...135,548,201
JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Joubert syndrome
ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar PMID:16682973, PMID:16909394, PMID:17564967, PMID:19764032, PMID:20683928, PMID:23954617, PMID:24850569, PMID:25741868, PMID:27821535, PMID:28492532, PMID:29588463, PMID:30193310 NCBI chr 7:40,304,964...40,315,408
Ensembl chr 7:40,304,988...40,316,532
JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Joubert syndrome
ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar PMID:17558407, PMID:17558409, PMID:17960139, PMID:18414213, PMID:18565097, PMID:19430481, PMID:21866095, PMID:22693042, PMID:23188109, PMID:23351400, PMID:24033266, PMID:25741868, PMID:26092869, PMID:27434533, PMID:28492532, PMID:29343940, PMID:29620724, PMID:29991045, PMID:30311386 NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
JBrowse link
G Sec16a SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr 3:3,856,218...3,890,785
Ensembl chr 3:3,856,218...3,890,758
JBrowse link
G Tctn1 tectonic family member 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:21725307, PMID:25741868, PMID:28492532 NCBI chr12:39,790,948...39,828,215
Ensembl chr12:39,790,965...39,824,064
JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Joubert syndrome
ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar PMID:21565611, PMID:22331178, PMID:24033266, PMID:25326637, PMID:25741868, PMID:26092869, PMID:28492532 NCBI chr12:37,400,896...37,427,256
Ensembl chr12:37,363,906...37,425,596
JBrowse link
G Tmem138 transmembrane protein 138 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar NCBI chr 1:226,623,861...226,630,911
Ensembl chr 1:226,623,861...226,630,900
JBrowse link
G Tmem17 transmembrane protein 17 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar NCBI chr14:107,268,235...107,308,546
Ensembl chr14:107,268,128...107,308,542
JBrowse link
G Tmem216 transmembrane protein 216 ISO DNA:missense mutation:exon:c.218G>T(p.R73L)(human)
ClinVar Annotator: match by term: Joubert syndrome
ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar PMID:18414213, PMID:20036350, PMID:20301500, PMID:20512146, PMID:22282472, PMID:23351400, PMID:24033266, PMID:25741868, PMID:26092869, PMID:26467025, PMID:26673778, PMID:28492532, PMID:28497568, PMID:20512146 RGD:11067331 NCBI chr 1:226,601,201...226,606,417
Ensembl chr 1:226,601,201...226,606,344
JBrowse link
G Tmem231 transmembrane protein 231 ISO ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar Annotator: match by term: Joubert syndrome
ClinVar PMID:25741868 NCBI chr19:44,137,444...44,158,624
Ensembl chr19:44,137,423...44,158,624
JBrowse link
G Tmem237 transmembrane protein 237 ISO DNA:nonsense,transition mutations:cds,splice junction:
ClinVar Annotator: match by term: Joubert syndrome
ClinVar PMID:17603801, PMID:22152675, PMID:22981120, PMID:24033266, PMID:25741868, PMID:28492532, PMID:22152675 RGD:11561921 NCBI chr 9:65,882,063...65,917,424
Ensembl chr 9:65,882,054...65,917,132
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar Annotator: match by term: Joubert syndrome
ClinVar PMID:2929661, PMID:9375913, PMID:10508989, PMID:12368986, PMID:17160906, PMID:17377820, PMID:17397051, PMID:18327255, PMID:18414213, PMID:19058225, PMID:19466712, PMID:19508969, PMID:19540516, PMID:19574260, PMID:19778711, PMID:20232449, PMID:20607301, PMID:21068128, PMID:21493627, PMID:21633164, PMID:21866095, PMID:23351400, PMID:23559409, PMID:25729630, PMID:25741868, PMID:25920555, PMID:26035863, PMID:26092869, PMID:26191240, PMID:26467025, PMID:26729329, PMID:27491411, PMID:28125082, PMID:28289063, PMID:28431631, PMID:28492532, PMID:28497568, PMID:28719906, PMID:28973083, PMID:29127258, PMID:29891882, PMID:29974258, PMID:30311386 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link
G Tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:19764032, PMID:23954617, PMID:27821535, PMID:28492532 NCBI chr 7:40,171,957...40,217,056
Ensembl chr 7:40,171,963...40,217,056
JBrowse link
G Togaram1 TOG array regulator of axonemal microtubules 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar NCBI chr 6:86,713,588...86,780,134
Ensembl chr 6:86,713,604...86,780,147
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:52,286,794...52,361,060
Ensembl chr 3:52,286,794...52,361,060
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16963483, PMID:24033266, PMID:25741868, PMID:28041643, PMID:28492532, PMID:29767709, PMID:30245029 NCBI chr13:106,750,738...107,434,195
Ensembl chr13:106,751,625...107,427,329
JBrowse link
G Wdpcp WD repeat containing planar cell polarity effector ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:27158779, PMID:28492532 NCBI chr14:106,393,959...106,759,511
Ensembl chr14:106,393,959...106,759,505
JBrowse link
G Zic1 Zic family member 1 ISS MouseDO NCBI chr 8:98,733,715...98,738,960
Ensembl chr 8:98,734,295...98,738,446
JBrowse link
Joubert syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar PMID:15322546, PMID:15467982, PMID:16453322, PMID:21623382, PMID:25616960, PMID:25741868, PMID:26092869, PMID:28492532 NCBI chr 1:16,478,127...16,601,769
Ensembl chr 1:16,478,127...16,601,769
JBrowse link
G Arl13b ADP-ribosylation factor like GTPase 13B ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868, PMID:28492532 NCBI chr 7:1,122,567...1,188,209
Ensembl chr 7:1,122,567...1,188,209
JBrowse link
G Atoh1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:25741868, PMID:30311386 NCBI chr 4:95,498,003...95,500,098
Ensembl chr 4:95,498,003...95,500,089
JBrowse link
G B9d1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:24886560, PMID:26092869 NCBI chr10:47,784,294...47,794,399
Ensembl chr10:47,785,033...47,792,590
Ensembl chr10:47,785,033...47,792,590
JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar PMID:18950740, PMID:19777577, PMID:21068128, PMID:22241855, PMID:22425360, PMID:22995991, PMID:23012439, PMID:24033266, PMID:25741868, PMID:26092869, PMID:26467025, PMID:26477546, PMID:26485645, PMID:27081510, PMID:27082236, PMID:28492532, PMID:30311386 NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1
ClinVar PMID:16909394, PMID:17345604, PMID:17564967, PMID:17564974, PMID:17705300, PMID:17964524, PMID:19466712, PMID:19764032, PMID:20079931, PMID:20683928, PMID:20690115, PMID:21153841, PMID:21245082, PMID:21602930, PMID:21866095, PMID:23027964, PMID:23188109, PMID:23344081, PMID:23351400, PMID:23559409, PMID:23847139, PMID:24265693, PMID:24850569, PMID:25377065, PMID:25741868, PMID:25920555, PMID:26047050, PMID:26092869, PMID:26673778, PMID:27491411, PMID:28041643, PMID:28492532, PMID:28497568, PMID:28559085, PMID:28829391, PMID:29146704, 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 Cplane1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar PMID:25407461, PMID:25741868, PMID:26092869, PMID:28125082, PMID:28492532, PMID:30311386 NCBI chr 2:57,274,175...57,350,003
NCBI chr 2:57,444,373...57,472,465
Ensembl chr 2:57,276,919...57,348,481
JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by OMIM:213300
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:15786477, PMID:18414213, PMID:19668216, PMID:23386033, PMID:25133751, PMID:25741868, PMID:25818971, PMID:26092869, PMID:28492532, PMID:29186038, PMID:29230161, PMID:30202406 NCBI chr 3:3,843,307...3,856,154
Ensembl chr 3:3,843,307...3,855,981
JBrowse link
G Micall2 MICAL-like 2 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar NCBI chr12:16,988,013...17,016,794
Ensembl chr12:16,988,136...17,016,791
JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:17185389, PMID:17397051, PMID:23351400, PMID:28492532 NCBI chr10:75,149,814...75,160,481
Ensembl chr10:75,149,814...75,160,480
JBrowse link
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:24746959, PMID:25741868, PMID:28492532 NCBI chr 3:120,316,048...120,370,089
Ensembl chr 3:120,316,047...120,373,500
JBrowse link
G Ofd1 OFD1, centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar PMID:18414213, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr  X:29,562,165...29,602,934
Ensembl chr  X:29,562,165...29,602,925
JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar PMID:17558409, PMID:19430481, PMID:25741868, PMID:28492532 NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
JBrowse link
G Tctn1 tectonic family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21725307 NCBI chr12:39,790,948...39,828,215
Ensembl chr12:39,790,965...39,824,064
JBrowse link
G Tmem216 transmembrane protein 216 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar PMID:18414213, PMID:20036350, PMID:20301500, PMID:20512146, PMID:22282472, PMID:23351400, PMID:24033266, PMID:25741868, PMID:26092869, PMID:26673778, PMID:28492532, PMID:28497568 NCBI chr 1:226,601,201...226,606,417
Ensembl chr 1:226,601,201...226,606,344
JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:25741868, PMID:28492532 NCBI chr 9:65,882,063...65,917,424
Ensembl chr 9:65,882,054...65,917,132
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar PMID:9375913, PMID:10508989, PMID:17377820, PMID:17397051, PMID:18414213, PMID:19058225, 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:28431631, PMID:28492532, PMID:29891882, PMID:30311386 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:21258341, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 3:52,286,794...52,361,060
Ensembl chr 3:52,286,794...52,361,060
JBrowse link
Joubert syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ofd1 OFD1, centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Joubert syndrome 10
DNA:duplication:exon:2122-2125dup (human)
DNA:deletions:exon:c.2841_2847del, c.2767del (human)
ClinVar Annotator: match by OMIM:300804
OMIM
ClinVar
PMID:18546297, PMID:19800048, PMID:22353940, PMID:24884629, PMID:25741868, PMID:26092869, PMID:28492532, PMID:16783569, PMID:19800048 RGD:11535965, RGD:11535963 NCBI chr  X:29,562,165...29,602,934
Ensembl chr  X:29,562,165...29,602,925
JBrowse link
Joubert Syndrome 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Joubert syndrome 12 ClinVar PMID:21633164 NCBI chr 1:141,434,183...141,452,592
Ensembl chr 1:141,434,625...141,451,075
JBrowse link
Joubert Syndrome 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tctn1 tectonic family member 1 ISO ClinVar Annotator: match by OMIM:614173
ClinVar Annotator: match by term: Joubert syndrome 13
ClinVar
OMIM
PMID:18414213, PMID:21725307, PMID:25558065, PMID:25741868, PMID:26092869, PMID:26477546, PMID:28492532 NCBI chr12:39,790,948...39,828,215
Ensembl chr12:39,790,965...39,824,064
JBrowse link
Joubert syndrome 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C2cd6 C2 calcium dependent domain containing 6 ISO ClinVar Annotator: match by term: Joubert syndrome 14 ClinVar PMID:28492532 NCBI chr 9:65,817,039...65,879,564
Ensembl chr 9:65,833,460...65,879,521
JBrowse link
G Mpp4 membrane palmitoylated protein 4 ISO ClinVar Annotator: match by term: Joubert syndrome 14 ClinVar PMID:28492532 NCBI chr 9:65,917,917...65,961,274
Ensembl chr 9:65,917,917...65,957,101
JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Joubert syndrome 14
ClinVar Annotator: match by OMIM:614424
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:14760273, PMID:17603801, PMID:22152675, PMID:22981120, PMID:25741868, PMID:26092869, PMID:26673778, PMID:28492532 NCBI chr 9:65,882,063...65,917,424
Ensembl chr 9:65,882,054...65,917,132
JBrowse link
Joubert syndrome 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep41 centrosomal protein 41 ISO ClinVar Annotator: match by term: Joubert syndrome 15
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:20301500, PMID:21438139, PMID:22246503, PMID:25741868, PMID:28492532, PMID:29588463, PMID:30664616 NCBI chr 4:57,966,783...58,006,931
Ensembl chr 4:57,966,783...58,006,839
JBrowse link
Joubert Syndrome 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem138 transmembrane protein 138 ISO ClinVar Annotator: match by term: Joubert syndrome 16 OMIM
ClinVar
PMID:22282472, PMID:25741868, PMID:26092869, PMID:28492532 NCBI chr 1:226,623,861...226,630,911
Ensembl chr 1:226,623,861...226,630,900
JBrowse link
Joubert Syndrome 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cplane1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Joubert syndrome 17
DNA:missense mutation: :p.S235P (mouse)
ClinVar Annotator: match by OMIM:614615
OMIM
ClinVar
PMID:10488899, PMID:18414213, PMID:22425360, PMID:23523602, PMID:24091540, PMID:24178751, PMID:25407461, PMID:25558065, PMID:25741868, PMID:25877302, PMID:25920555, PMID:26092869, PMID:26096313, PMID:27081551, PMID:27158779, PMID:27166760, PMID:27434533, PMID:28125082, PMID:28289185, PMID:28431631, PMID:28454995, PMID:28492532, PMID:29321670, PMID:29605658, PMID:30311386, PMID:25877302 RGD:11537349 NCBI chr 2:57,274,175...57,350,003
NCBI chr 2:57,444,373...57,472,465
Ensembl chr 2:57,276,919...57,348,481
JBrowse link
Joubert Syndrome 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tctn3 tectonic family member 3 ISO ClinVar Annotator: match by term: Joubert syndrome 18 OMIM
ClinVar
PMID:22883145, PMID:26092869, PMID:28492532 NCBI chr 1:259,681,435...259,691,881
Ensembl chr 1:259,682,249...259,691,742
JBrowse link
Joubert Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem216 transmembrane protein 216 ISO ClinVar Annotator: match by term: Cerebellooculorenal syndrome 2
ClinVar Annotator: match by term: Joubert syndrome 2
ClinVar Annotator: match by OMIM:608091
DNA:misense mutation:exon:c.35G>T(p.R12L)(human)
OMIM
ClinVar
PMID:18414213, PMID:20036350, PMID:20301500, PMID:20512146, PMID:22282472, PMID:23351400, PMID:24033266, PMID:25741868, PMID:26092869, PMID:26467025, PMID:26673778, PMID:28492532, PMID:28497568, PMID:20036350 RGD:11561919 NCBI chr 1:226,601,201...226,606,417
Ensembl chr 1:226,601,201...226,606,344
JBrowse link
Joubert syndrome 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem231 transmembrane protein 231 ISO ClinVar Annotator: match by term: Joubert syndrome 20
ClinVar Annotator: match by OMIM:614970
OMIM
ClinVar
PMID:23012439, PMID:25741868, PMID:25869670, PMID:27449316, PMID:28492532 NCBI chr19:44,137,444...44,158,624
Ensembl chr19:44,137,423...44,158,624
JBrowse link
Joubert syndrome 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arfgef1 ADP ribosylation factor guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar PMID:24360807, PMID:24360808, PMID:25741868, PMID:26092869, PMID:28492532 NCBI chr 5:8,666,046...8,760,458
Ensembl chr 5:8,666,200...8,760,458
JBrowse link
G Cops5 COP9 signalosome subunit 5 ISO ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar PMID:28492532 NCBI chr 5:8,876,090...8,894,345
Ensembl chr 5:8,876,044...8,894,339
JBrowse link
G Cspp1 centrosome and spindle pole associated protein 1 ISO ClinVar Annotator: match by term: Joubert syndrome 21
ClinVar Annotator: match by OMIM:615636
OMIM
ClinVar
PMID:24033266, PMID:24360803, PMID:24360807, PMID:24360808, PMID:25558065, PMID:25741868, PMID:26092869, PMID:27894351, PMID:28492532, PMID:29706646, PMID:30311386 NCBI chr 5:8,761,293...8,876,205
Ensembl chr 5:8,761,293...8,864,578
JBrowse link
G Ppp1r42 protein phosphatase 1, regulatory subunit 42 ISO ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar PMID:28492532 NCBI chr 5:8,911,356...8,956,313
Ensembl chr 5:8,916,633...8,956,119
JBrowse link
Joubert Syndrome 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6d phosphodiesterase 6D ISO ClinVar Annotator: match by term: Joubert syndrome 22
ClinVar Annotator: match by OMIM:615665
OMIM
ClinVar
PMID:24166846, PMID:25741868, PMID:28492532, PMID:30423442 NCBI chr 9:93,562,099...93,607,061
Ensembl chr 9:93,562,095...93,607,087
JBrowse link
Joubert Syndrome 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC690035 similar to Protein KIAA0586 ISO ClinVar Annotator: match by term: Joubert syndrome 23 OMIM
ClinVar
PMID:2609613, PMID:24033266, PMID:25741868, PMID:26026149, PMID:26096313, PMID:26166481, PMID:26386044, PMID:26386247, PMID:26437029, PMID:26938784, PMID:28125082, PMID:28492532, PMID:28497568, PMID:29068549, PMID:30120217, PMID:30311386, PMID:32581362 NCBI chr 6:93,562,775...93,667,857
Ensembl chr 6:93,563,446...93,667,675
JBrowse link
Joubert syndrome 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 ISO ClinVar Annotator: match by term: Joubert syndrome 24 ClinVar PMID:25741868, PMID:28492532 NCBI chr12:37,368,321...37,398,233
Ensembl chr12:37,363,906...37,425,596
JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Joubert syndrome 24
ClinVar Annotator: match by term: JOUBERT SYNDROME 24
OMIM
ClinVar
PMID:21565611, PMID:22331178, PMID:25118024, PMID:25326637, PMID:25741868, PMID:26092869, PMID:28492532 NCBI chr12:37,400,896...37,427,256
Ensembl chr12:37,363,906...37,425,596
JBrowse link
Joubert Syndrome 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar
OMIM
PMID:25741868, PMID:26477546, PMID:28492532 NCBI chr 5:171,262,278...171,294,560
Ensembl chr 5:171,262,278...171,294,559
JBrowse link
Joubert Syndrome 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Katnip katanin interacting protein ISO ClinVar Annotator: match by term: Joubert syndrome 26 ClinVar
OMIM
PMID:26714646, PMID:27245168 NCBI chr 1:197,098,621...197,265,840
Ensembl chr 1:197,098,603...197,265,840
JBrowse link
Joubert Syndrome 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B9d1 B9 domain containing 1 ISO ClinVar Annotator: match by OMIM:617120
ClinVar Annotator: match by term: Joubert syndrome 27
ClinVar
OMIM
PMID:24886560, PMID:26092869 NCBI chr10:47,784,294...47,794,399
Ensembl chr10:47,785,033...47,792,590
Ensembl chr10:47,785,033...47,792,590
JBrowse link
Joubert Syndrome 28 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 OMIM:617121
ClinVar Annotator: match by term: Joubert syndrome 28
ClinVar
OMIM
PMID:16415886, PMID:17185389, PMID:17377820, PMID:17397051, PMID:17437276, PMID:17935508, PMID:23351400, PMID:24886560, PMID:25741868, PMID:26092869, PMID:26490104, PMID:27377014, PMID:27570071, PMID:28492532, PMID:30311386 NCBI chr10:75,149,814...75,160,481
Ensembl chr10:75,149,814...75,160,480
JBrowse link
Joubert syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahi1 Abelson helper integration site 1 ISO DNA:missense mutation, nonsense mutations:exon:multiple
ClinVar Annotator: match by term: Joubert syndrome 3
DNA:nonsense mutations:exon:3263_3264del, 1181G>A (human)
DNA:missense mutation, nonsense mutations:cds:p.V443D (1328T>A), p.R351X (1051C>T), p.R435X (1303C>T) (human)
DNA:nonsense mutation:cds:c.910dup (human)
DNA:insertion, missense mutation, splice-site mutations:cds, intron:multiple
DNA:deletion, insertion, missense mutation:exon:1188_89del, p.V443D (1328T>A) (human)
ClinVar Annotator: match by OMIM:608629
ClinVar
OMIM
PMID:15322546, PMID:15467982, PMID:16155189, PMID:16240161, PMID:16453322, PMID:17409309, PMID:18054307, PMID:18414213, PMID:21068128, PMID:21623382, PMID:21937992, PMID:22236771, PMID:22693042, PMID:22773737, PMID:23532844, PMID:24690944, PMID:25326637, PMID:25356976, PMID:25445212, PMID:25525159, PMID:25558065, PMID:25616960, PMID:25741868, PMID:26035799, PMID:26035800, PMID:26092869, PMID:26467025, PMID:28041643, PMID:28431631, PMID:28442542, PMID:28492532, PMID:16155189, PMID:18268248, PMID:21623382, PMID:15322546, PMID:26541515, PMID:16453322, PMID:15467982, PMID:18054307 RGD:1598905, RGD:11537395, RGD:11537390, RGD:11537388, RGD:11343130, RGD:11537387, RGD:1304518, RGD:11537346 NCBI chr 1:16,478,127...16,601,769
Ensembl chr 1:16,478,127...16,601,769
JBrowse link
Joubert syndrome 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Armc9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: JOUBERT SYNDROME 30 ClinVar
OMIM
PMID:25741868, PMID:28492532, PMID:28625504, PMID:29159890 NCBI chr 9:93,172,718...93,299,119
Ensembl chr 9:93,172,673...93,296,750
JBrowse link
Joubert syndrome 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep120 centrosomal protein 120 ISO ClinVar Annotator: match by term: JOUBERT SYNDROME 31 ClinVar
OMIM
PMID:27208211, PMID:28492532 NCBI chr18:48,658,495...48,720,570
Ensembl chr18:48,658,495...48,720,472
JBrowse link
Joubert syndrome 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: JOUBERT SYNDROME 32 ClinVar
OMIM
PMID:25741868, PMID:28492532, PMID:28965847 NCBI chr 1:266,143,766...266,241,742
Ensembl chr 1:266,143,818...266,239,016
JBrowse link
Joubert syndrome 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: JOUBERT SYNDROME 33 ClinVar
OMIM
PMID:25741868, PMID:26167768 NCBI chr15:83,494,110...83,663,202
Ensembl chr15:83,495,377...83,663,143
JBrowse link
JOUBERT SYNDROME 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl3 ADP ribosylation factor like GTPase 3 ISO ClinVar Annotator: match by term: JOUBERT SYNDROME 35 ClinVar
OMIM
PMID:30269812 NCBI chr 1:266,287,015...266,333,099
Ensembl chr 1:266,287,017...266,333,105
JBrowse link
Joubert Syndrome 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam149b1 family with sequence similarity 149, member B1 ISO ClinVar Annotator: match by term: JOUBERT SYNDROME 36 OMIM
ClinVar
PMID:30905400 NCBI chr15:4,361,860...4,399,746
Ensembl chr15:4,361,862...4,399,685
JBrowse link
Joubert syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahi1 Abelson helper integration site 1 ISO DNA:missense mutation:cds:p.R830W (c.2488C>T) (human) RGD PMID:17409309 RGD:7246903 NCBI chr 1:16,478,127...16,601,769
Ensembl chr 1:16,478,127...16,601,769
JBrowse link
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: Joubert syndrome 4
associated with Kidney Diseases, Cystic;DNA:mutation
OMIM
ClinVar
PMID:8852662, PMID:9326933, PMID:9856524, PMID:10712196, PMID:10839884, PMID:15138899, PMID:16155189, PMID:24746959, PMID:25741868, PMID:27491411, PMID:28492532, PMID:28624958, PMID:30311386, PMID:17409309 RGD:7246903 NCBI chr 3:120,316,048...120,370,089
Ensembl chr 3:120,316,047...120,373,500
JBrowse link
G Nphp4 nephrocystin 4 ISO DNA:mutations:exon, intron:multiple RGD PMID:15776426 RGD:11068164 NCBI chr 5:169,647,581...169,744,662
Ensembl chr 5:169,659,188...169,744,660
JBrowse link
Joubert syndrome 5 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: Joubert syndrome 5
ClinVar Annotator: match by OMIM:610188
DNA:deletions, nonsense mutations, splice-site mutations:exon, intron:multiple
DNA:deletions, insertion: :multiple
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:16682970, PMID:16682973, PMID:16909394, PMID:17345604, PMID:17409309, PMID:17564967, PMID:17564974, PMID:17617513, PMID:17964524, PMID:18327255, PMID:18414213, PMID:19466712, PMID:19764032, PMID:20683928, PMID:20690115, PMID:21068128, PMID:21153841, PMID:21245082, PMID:21602930, PMID:21866095, PMID:22355252, PMID:22693042, PMID:23027964, PMID:23188109, PMID:23344081, PMID:23351400, PMID:23591405, PMID:23847139, PMID:23954617, PMID:24265693, PMID:25097241, PMID:25741868, PMID:25818971, PMID:25920555, PMID:26047050, PMID:26092869, PMID:26467025, PMID:26477546, PMID:27353947, PMID:27491411, PMID:28041643, PMID:28492532, PMID:28497568, PMID:28829391, PMID:29146704, PMID:29398085, PMID:30311386, PMID:30718709, PMID:17617513, PMID:17409309 RGD:11537352, RGD:7246903 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: Joubert syndrome 5 ClinVar PMID:28492532 NCBI chr 7:40,304,964...40,315,408
Ensembl chr 7:40,304,988...40,316,532
JBrowse link
Joubert syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Joubert syndrome 6
DNA:missense mutations, splice-site mutations: :multiple
ClinVar Annotator: match by OMIM:610688
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:2929661, PMID:8862632, PMID:9375913, PMID:10508989, PMID:10567047, PMID:12368986, PMID:16541367, PMID:17160906, PMID:17377820, PMID:17397051, PMID:18327255, PMID:18414213, PMID:19058225, PMID:19466712, PMID:19508969, PMID:19540516, PMID:19574260, PMID:19778711, PMID:20232449, PMID:20607301, PMID:21068128, PMID:21633164, PMID:21866095, PMID:23559409, PMID:25326635, PMID:25729630, PMID:25741868, PMID:25920555, PMID:26035863, PMID:26092869, PMID:26467025, PMID:26729329, PMID:27457812, PMID:27491411, PMID:28289063, PMID:28431631, PMID:28492532, PMID:28497568, PMID:28719906, PMID:28973083, PMID:29127258, PMID:29891882, PMID:29974258, PMID:30311386, PMID:31319225, PMID:17160906 RGD:11072184 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link
Joubert syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Joubert syndrome 7 ClinVar NCBI chr15:28,521,287...28,575,046
Ensembl chr15:28,522,737...28,574,737
JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Joubert syndrome 7
DNA:missense mutations, splice-site mutation:exon, intron:multiple
ClinVar Annotator: match by OMIM:611560
OMIM
ClinVar
PMID:17558407, PMID:17558409, PMID:17960139, PMID:18414213, PMID:18565097, PMID:19430481, PMID:19574260, PMID:21866095, PMID:23188109, PMID:25741868, PMID:26092869, PMID:27434533, PMID:28492532, PMID:29343940, PMID:29991045, PMID:30311386, PMID:17960139 RGD:11537350 NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
JBrowse link
Joubert syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl13b ADP-ribosylation factor like GTPase 13B ISO ClinVar Annotator: match by term: Joubert syndrome 8
DNA:missense mutations, nonsense mutation:p.R79Q, p.R200C, p.W82X (human)
ClinVar Annotator: match by OMIM:612291
OMIM
ClinVar
PMID:18674751, PMID:25138100, PMID:25741868, PMID:26092869, PMID:28492532, PMID:18674751 RGD:11553937 NCBI chr 7:1,122,567...1,188,209
Ensembl chr 7:1,122,567...1,188,209
JBrowse link
G Nsun3 NOP2/Sun RNA methyltransferase 3 ISO ClinVar Annotator: match by term: Joubert syndrome 8 ClinVar PMID:28492532 NCBI chr11:38,535,971...38,590,274
Ensembl chr11:38,536,165...38,590,107
JBrowse link
G Pros1 protein S ISO ClinVar Annotator: match by term: Joubert syndrome 8 ClinVar PMID:28492532 NCBI chr 7:1,206,648...1,288,140
Ensembl chr 7:1,206,648...1,288,134
JBrowse link
G Stx19 syntaxin 19 ISO ClinVar Annotator: match by term: Joubert syndrome 8 ClinVar PMID:28492532 NCBI chr 7:1,145,002...1,149,978 JBrowse link
Joubert syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Joubert syndrome 9 ClinVar NCBI chr 4:144,382,945...144,398,919
Ensembl chr 4:144,382,945...144,398,917
JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A no_association ISO ClinVar Annotator: match by term: Joubert syndrome 9
ClinVar Annotator: match by term: Joubert syndrome 9/15, digenic
DNA:splice-site mutation:intron:IVS19+1G>C (human)
DNA:mutations: :multiple
ClinVar Annotator: match by OMIM:612285
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:18387594, PMID:18414213, PMID:18950740, PMID:19466712, PMID:19574260, PMID:19777577, PMID:21068128, PMID:21370303, PMID:22241855, PMID:22246503, PMID:22425360, PMID:23012439, PMID:23692786, PMID:24033266, PMID:24706459, PMID:25741868, PMID:26092869, PMID:26467025, PMID:26477546, PMID:26485645, PMID:26673778, PMID:26729329, PMID:27081510, PMID:27082236, PMID:28492532, PMID:30311386, PMID:19068953, PMID:22241855, PMID:22241855 RGD:11535976, RGD:11062645, RGD:11062645 NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419
JBrowse link
G Cep41 centrosomal protein 41 ISO ClinVar Annotator: match by term: Joubert syndrome 9/15, digenic ClinVar PMID:20301500, PMID:22246503, PMID:28492532 NCBI chr 4:57,966,783...58,006,931
Ensembl chr 4:57,966,783...58,006,839
JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Joubert syndrome 9 ClinVar NCBI chr 8:68,897,746...68,967,221
Ensembl chr 8:68,898,296...68,966,108
JBrowse link
Joubert syndrome with orofaciodigital defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cplane1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome 6
ClinVar Annotator: match by term: Orofaciodigital syndrome VI
ClinVar
OMIM
PMID:18414213, PMID:22425360, PMID:23523602, PMID:24091540, PMID:24178751, PMID:25407461, PMID:25741868, PMID:25846457, PMID:25920555, PMID:26092869, PMID:27081551, PMID:27434533, PMID:28125082, PMID:28289185, PMID:28431631, PMID:28454995, PMID:28492532, PMID:29321670, PMID:29605658, PMID:30311386 NCBI chr 2:57,274,175...57,350,003
NCBI chr 2:57,444,373...57,472,465
Ensembl chr 2:57,276,919...57,348,481
JBrowse link
Kartagener syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1b1 adaptor related protein complex 1 subunit beta 1 ISS MouseDO NCBI chr14:85,230,652...85,281,806
Ensembl chr14:85,230,648...85,281,803
JBrowse link
G Ccdc103 coiled-coil domain containing 103 ISO ClinVar Annotator: match by term: Kartagener syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22581229, PMID:23891469, PMID:24033266, PMID:24357714, PMID:25326635, PMID:25741868, PMID:26123568, PMID:27637300, PMID:28492532, PMID:28790179, PMID:30311386 NCBI chr10:90,984,213...90,987,829
Ensembl chr10:90,984,227...90,987,823
JBrowse link
G Ccdc39 coiled-coil domain containing 39 ISS MouseDO NCBI chr 2:120,278,605...120,367,829
Ensembl chr 2:120,278,605...120,316,600
JBrowse link
G Ccdc40 coiled-coil domain containing 40 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar Annotator: match by term: Kartagener syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:21131974, PMID:28492532, PMID:31443223 NCBI chr10:108,055,270...108,393,408
Ensembl chr10:108,340,240...108,372,862
JBrowse link
G Ccno cyclin O ISO ClinVar Annotator: match by term: Kartagener syndrome
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar PMID:24747639, PMID:28492532 NCBI chr 2:44,857,043...44,860,317
Ensembl chr 2:44,857,213...44,860,315
JBrowse link
G Cfap298 cilia and flagella associated protein 298 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24094744, PMID:28492532 NCBI chr11:31,094,103...31,103,487
Ensembl chr11:31,094,084...31,103,520
JBrowse link
G Daw1 dynein assembly factor with WD repeats 1 ISS MouseDO NCBI chr 9:88,964,530...89,001,568
Ensembl chr 9:88,964,525...89,001,567
JBrowse link
G Dnaaf1 dynein, axonemal, assembly factor 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:19944400, PMID:19944405 NCBI chr19:52,217,427...52,245,930
Ensembl chr19:52,217,984...52,245,929
JBrowse link
G Dnaaf2 dynein, axonemal, assembly factor 2 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:19052621, PMID:24498942 NCBI chr 6:91,481,439...91,490,189
Ensembl chr 6:91,481,954...91,490,366
JBrowse link
G Dnaaf3 dynein, axonemal, assembly factor 3 ISO ClinVar Annotator: match by term: Kartagener syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:10745040, PMID:22387996, PMID:28492532 NCBI chr 1:72,874,131...72,882,867
Ensembl chr 1:72,874,404...72,883,002
JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23872636 NCBI chr 8:79,637,678...79,651,892
Ensembl chr 8:79,638,696...79,651,884
JBrowse link
G Dnah1 dynein, axonemal, heavy chain 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:25927852 NCBI chr16:7,345,131...7,407,009
Ensembl chr16:7,345,978...7,408,265
JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 susceptibility ISO
ISS
DNA:nonsense mutation, missense mutation: :R2852X, R3004Q MouseDO PMID:12142464 RGD:734893 NCBI chr 6:145,784,893...146,099,212
Ensembl chr 6:145,785,275...146,099,053
JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 susceptibility ISO
ISS
DNA:mutations
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
MouseDO
PMID:19357118, PMID:19630565, PMID:23477994, PMID:28492532, PMID:11788826 RGD:1601080 NCBI chr 2:80,947,730...81,143,997
NCBI chr 2:81,159,060...81,337,560
Ensembl chr 2:80,948,658...81,143,447
JBrowse link
G Dnah8 dynein, axonemal, heavy chain 8 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24307375 NCBI chr20:9,301,317...9,560,805
Ensembl chr20:9,313,271...9,560,682
JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 susceptibility ISO DNA:missense mutation, insertion, deletion:exon, intron:p.G515S
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar Annotator: match by term: Primary ciliary dyskinesia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:244400
ClinVar
CTD
PMID:10577904, PMID:11231901, PMID:16858015, PMID:18434704, PMID:19675306, PMID:21143860, PMID:21270641, PMID:22416021, PMID:23477994, PMID:24033266, PMID:24498942, PMID:24912412, PMID:25741868, PMID:25802884, PMID:26918822, PMID:28492532, PMID:28939216, PMID:29363216, PMID:11231901 RGD:1601083 NCBI chr 5:57,947,796...58,017,985
Ensembl chr 5:57,947,716...58,017,992
JBrowse link
G Dnai2 dynein, axonemal, intermediate chain 2 ISO
ISS
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
MouseDO
PMID:18950741 NCBI chr10:103,266,343...103,301,521
Ensembl chr10:103,266,296...103,301,544
JBrowse link
G Dnal1 dynein, axonemal, light chain 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:21496787 NCBI chr 6:107,596,785...107,623,869
Ensembl chr 6:107,596,782...107,625,214
JBrowse link
G Drc1 dynein regulatory complex subunit 1 ISO ClinVar Annotator: match by term: Kartagener syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12746204, PMID:23354437, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 6:27,425,237...27,460,038
Ensembl chr 6:27,425,235...27,460,038
JBrowse link
G Foxj1 forkhead box J1 ISS MouseDO NCBI chr10:105,282,090...105,289,396 JBrowse link
G Hydin Hydin, axonemal central pair apparatus protein ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:14985390, PMID:23022101 NCBI chr19:41,036,507...41,379,634
Ensembl chr19:41,036,510...41,379,588
JBrowse link
G LOC691354 hypothetical protein LOC691354 ISS MouseDO NCBI chr 5:165,464,832...165,491,375
Ensembl chr 5:165,465,095...165,481,914
JBrowse link
G Lrrc6 leucine rich repeat containing 6 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:8066563, PMID:12162599, PMID:14656747, PMID:19606528, PMID:23122589, PMID:23527195, PMID:23891469, PMID:24307375, PMID:28492532 NCBI chr 7:107,130,402...107,231,507
Ensembl chr 7:107,130,402...107,223,047
JBrowse link
G Mbl2 mannose binding lectin 2 severity ISO DNA:haplotype:promoter: RGD PMID:24753481 RGD:11250592 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Mcidas multiciliate differentiation and DNA synthesis associated cell cycle protein ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:1523039, PMID:8813877, PMID:25048963 NCBI chr 2:44,863,246...44,869,732
Ensembl chr 2:44,863,252...44,870,536
JBrowse link
G Odad1 outer dynein arm docking complex subunit 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23261302, PMID:23261303, PMID:25741868, PMID:28492532 NCBI chr 1:101,904,042...101,932,999
Ensembl chr 1:101,906,903...101,932,998
JBrowse link
G Odad2 outer dynein arm docking complex subunit 2 ISS
ISO
ClinVar Annotator: match by term: Kartagener syndrome MouseDO
ClinVar
PMID:23806086, PMID:23849778, PMID:24088041, PMID:28492532 NCBI chr17:60,283,926...60,474,289
Ensembl chr17:60,287,203...60,474,031
JBrowse link
G Odad3 outer dynein arm docking complex subunit 3 ISO
ISS
ClinVar Annotator: match by term: Kartagener syndrome ClinVar
MouseDO
PMID:25192045, PMID:25224326 NCBI chr 8:23,000,912...23,014,707
Ensembl chr 8:23,000,872...23,014,499
JBrowse link
G Polr2k RNA polymerase II, I and III subunit K ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24055112 NCBI chr 7:74,939,010...74,992,594
Ensembl chr 7:74,989,223...74,992,582
JBrowse link
G Rsph1 radial spoke head component 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23993197, PMID:24033266, PMID:24518672, PMID:24568568, PMID:26139845, PMID:28492532 NCBI chr20:9,998,698...10,020,719
Ensembl chr20:9,998,701...10,013,559
JBrowse link
G Rsph3 radial spoke head 3 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:26073779, PMID:28492532 NCBI chr 1:47,412,151...47,478,924
Ensembl chr 1:47,426,258...47,477,524
JBrowse link
G Rsph4a radial spoke head component 4A ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23798057, PMID:24824133, PMID:25741868, PMID:28492532 NCBI chr20:32,450,701...32,467,362
Ensembl chr20:32,450,733...32,467,194
Ensembl chr20:32,450,733...32,467,194
JBrowse link
G Slit2 slit guidance ligand 2 ISS MouseDO NCBI chr14:66,831,848...67,171,491
Ensembl chr14:66,831,848...67,170,361
JBrowse link
G Spag1 sperm associated antigen 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24055112, PMID:25741868, PMID:26228299, PMID:27637300, PMID:28492532 NCBI chr 7:74,994,379...75,054,294
Ensembl chr 7:74,994,605...75,054,293
JBrowse link
G Zmynd10 zinc finger, MYND-type containing 10 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:23891469, PMID:23891471, PMID:28492532 NCBI chr 8:116,302,513...116,306,871
Ensembl chr 8:116,302,513...116,306,870
JBrowse link
Meckel syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:25741868 NCBI chr12:37,368,321...37,398,233
Ensembl chr12:37,363,906...37,425,596
JBrowse link
G B9d1 B9 domain containing 1 ISS
ISO
ClinVar Annotator: match by term: Meckel-Gruber syndrome MouseDO
ClinVar
PMID:25741868 NCBI chr10:47,784,294...47,794,399
Ensembl chr10:47,785,033...47,792,590
Ensembl chr10:47,785,033...47,792,590
JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISS
ISO
ClinVar Annotator: match by term: Meckel-Gruber syndrome MouseDO
ClinVar
PMID:18414213, PMID:18950740, PMID:19777577, PMID:22241855, PMID:22425360, PMID:23012439, PMID:24033266, PMID:25741868, PMID:26092869, PMID:26477546, PMID:26485645, PMID:27081510, PMID:27082236, PMID:28492532, PMID:30311386 NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419
JBrowse link
G Ccdc172 coiled-coil domain containing 172 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar NCBI chr 1:279,633,655...279,699,234
Ensembl chr 1:279,633,671...279,676,909
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Meckel syndrome
ClinVar Annotator: match by term: Meckel-Gruber syndrome
ClinVar PMID:16682970, PMID:16682973, PMID:16909394, PMID:17345604, PMID:17564967, PMID:17564974, PMID:17705300, PMID:17964524, PMID:18414213, PMID:19466712, PMID:19764032, PMID:20079931, PMID:20683928, PMID:20690115, PMID:21068128, PMID:21153841, PMID:21245082, PMID:21602930, PMID:21866095, PMID:22355252, PMID:22693042, PMID:23027964, PMID:23188109, PMID:23344081, PMID:23351400, PMID:23559409, PMID:23591405, PMID:23954617, PMID:24265693, PMID:24850569, PMID:25377065, PMID:25741868, PMID:25818971, PMID:25920555, PMID:26047050, PMID:26092869, PMID:26673778, PMID:27353947, PMID:28041643, PMID:28492532, PMID:28497568, PMID:28559085, 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 Cep295 centrosomal protein 295 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar NCBI chr 8:13,871,065...13,909,249
Ensembl chr 8:13,871,213...13,909,188
JBrowse link
G Cspp1 centrosome and spindle pole associated protein 1 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:24360803, PMID:25558065, PMID:25741868 NCBI chr 5:8,761,293...8,876,205
Ensembl chr 5:8,761,293...8,864,578
JBrowse link
G Evc2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:25558065 NCBI chr14:78,128,620...78,212,394
Ensembl chr14:78,129,749...78,211,931
JBrowse link
G Exoc3l2 exocyst complex component 3-like 2 ISO ClinVar Annotator: match by term: Meckel syndrome ClinVar NCBI chr 1:80,372,708...80,404,275
Ensembl chr 1:80,383,050...80,404,290
JBrowse link
G Exoc4 exocyst complex component 4 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:25558065 NCBI chr 4:60,549,128...61,358,305
Ensembl chr 4:60,549,197...61,355,994
JBrowse link
G Fam166b family with sequence similarity 166, member B ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar NCBI chr 5:58,883,064...58,884,136 JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar NCBI chr19:16,774,549...17,115,098
Ensembl chr19:16,772,744...17,115,113
JBrowse link
G LOC690035 similar to Protein KIAA0586 ISO ClinVar Annotator: match by term: Meckel syndrome ClinVar NCBI chr 6:93,562,775...93,667,857
Ensembl chr 6:93,563,446...93,667,675
JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO
ISS
ClinVar Annotator: match by term: Meckel syndrome
ClinVar Annotator: match by term: Meckel-Gruber syndrome
ClinVar
MouseDO
PMID:17185389, PMID:17377820, PMID:17397051, PMID:17437276, PMID:18414213, PMID:23351400, PMID:23736532, PMID:24033266, PMID:25741868, PMID:26092869, PMID:26490104, PMID:28492532, PMID:28497568 NCBI chr10:75,149,814...75,160,481
Ensembl chr10:75,149,814...75,160,480
JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr 8:112,526,553...112,575,745
Ensembl chr 8:112,526,553...112,575,745
JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Meckel-Gruber 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 Rpgrip1l Rpgrip1-like ISS
ISO
ClinVar Annotator: match by term: Meckel-Gruber syndrome MouseDO
ClinVar
PMID:17558409, PMID:19430481, PMID:25741868, PMID:28492532 NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
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 Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:25741868 NCBI chr12:37,400,896...37,427,256
Ensembl chr12:37,363,906...37,425,596
JBrowse link
G Tmem138 transmembrane protein 138 ISO ClinVar Annotator: match by term: Meckel syndrome ClinVar NCBI chr 1:226,623,861...226,630,911
Ensembl chr 1:226,623,861...226,630,900
JBrowse link
G Tmem216 transmembrane protein 216 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:28492532 NCBI chr 1:226,601,201...226,606,417
Ensembl chr 1:226,601,201...226,606,344
JBrowse link
G Tmem231 transmembrane protein 231 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:23349226, PMID:25558065 NCBI chr19:44,137,444...44,158,624
Ensembl chr19:44,137,423...44,158,624
JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar PMID:25558065 NCBI chr 9:65,882,063...65,917,424
Ensembl chr 9:65,882,054...65,917,132
JBrowse link
G Tmem67 transmembrane protein 67 ISS
ISO
ClinVar Annotator: match by term: Meckel-Gruber syndrome MouseDO
ClinVar
PMID:9375913, PMID:10508989, PMID:17377820, PMID:17397051, PMID:18414213, PMID:19058225, PMID:19466712, PMID:19508969, PMID:19540516, PMID:19574260, PMID:19778711, PMID:20232449, PMID:20607301, PMID:21068128, PMID:21866095, PMID:23559409, PMID:24033266, PMID:25729630, PMID:25741868, PMID:25920555, PMID:26035863, PMID:26092869, PMID:26729329, PMID:27491411, PMID:28431631, PMID:28492532, PMID:29891882, PMID:30311386 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link
G Ttc6 tetratricopeptide repeat domain 6 ISO ClinVar Annotator: match by term: Meckel-Gruber syndrome ClinVar NCBI chr 6:78,567,453...78,779,151
Ensembl chr 6:78,567,970...78,631,557
JBrowse link
G Txndc15 thioredoxin domain containing 15 ISO ClinVar Annotator: match by term: Meckel syndrome
ClinVar Annotator: match by term: Meckel-Gruber syndrome
ClinVar PMID:25741868 NCBI chr17:9,429,171...9,441,628
Ensembl chr17:9,429,175...9,441,526
JBrowse link
Meckel syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA
ClinVar Annotator: match by term: Gruber syndrome
ClinVar PMID:18950740, PMID:19777577, PMID:22241855, PMID:22425360, PMID:23012439, PMID:24033266, PMID:25741868, PMID:26092869, PMID:26477546, PMID:26485645, PMID:27081510, PMID:27082236, PMID:28492532, PMID:30311386 NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA
ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar PMID:16909394, PMID:17345604, PMID:17564967, PMID:17564974, PMID:17705300, PMID:17964524, PMID:19466712, PMID:19764032, PMID:20079931, PMID:20683928, PMID:20690115, PMID:21153841, PMID:21245082, PMID:21602930, PMID:21866095, PMID:23027964, PMID:23188109, PMID:23344081, PMID:23351400, PMID:23559409, PMID:24265693, PMID:24850569, PMID:25377065, PMID:25741868, PMID:25920555, PMID:26047050, PMID:26092869, PMID:26673778, PMID:28041643, PMID:28492532, PMID:28497568, PMID:28559085, PMID:28829391, PMID:29398085, PMID:30311386 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Meckel syndrome type 1
DNA:splice-site mutations:intron:c.870-2A>G, c.1546+1G¿¿¿>A (human)
DNA:deletion:intron:IVS15-7_35del (human)
DNA:splice-site mutation:intron:c.515 + 6T>C (mouse)
DNA:missense mutations, splice-site mutations:exon:c.417G>A, c.958G>A (p.V320I), c.1490G>A (p.R497K) (human)
ClinVar Annotator: match by OMIM:249000
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:16415886, PMID:17185389, PMID:17377820, PMID:17397051, PMID:17437276, PMID:17935508, PMID:18327255, PMID:19430481, PMID:21068128, PMID:21258341, PMID:23351400, PMID:23736532, PMID:24033266, PMID:25741868, PMID:25966130, PMID:26092869, PMID:26490104, PMID:27377014, PMID:28224992, PMID:28492532, PMID:28497568, PMID:30718709, PMID:23351400, PMID:17935508, PMID:19776033, PMID:21045211, PMID:17397051 RGD:11535078, RGD:11535074, RGD:11535068, RGD:11535065, RGD:11063991 NCBI chr10:75,149,814...75,160,481
Ensembl chr10:75,149,814...75,160,480
JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA
ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar PMID:17558409, PMID:19430481, PMID:25741868, PMID:28492532 NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Meckel syndrome type 1 ClinVar PMID:25741868, PMID:27571260 NCBI chr10:55,653,694...55,656,270
Ensembl chr10:55,653,946...55,656,270
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA
ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar Annotator: match by term: Meckel syndrome type 1
ClinVar PMID:9375913, PMID:10508989, PMID:17377820, PMID:17397051, PMID:18414213, PMID:19058225, PMID:19466712, PMID:19508969, PMID:19540516, PMID:19574260, PMID:19778711, PMID:20232449, PMID:20607301, PMID:21068128, PMID:21866095, PMID:23559409, PMID:24033266, PMID:25729630, PMID:25741868, PMID:25920555, PMID:26035863, PMID:26092869, PMID:26729329, PMID:27491411, PMID:28431631, PMID:28492532, PMID:29891882, PMID:30311386 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link
Meckel syndrome 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: MECKEL SYNDROME 13 ClinVar
OMIM
PMID:26123494, PMID:26595381 NCBI chr10:55,653,694...55,656,270
Ensembl chr10:55,653,946...55,656,270
JBrowse link
Meckel syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem216 transmembrane protein 216 ISO ClinVar Annotator: match by term: Meckel syndrome, type 2
ClinVar Annotator: match by term: Meckel syndrome type 2
ClinVar Annotator: match by OMIM:603194
DNA:missense,frameshift,nonsense mutations:cds,splice junction:
OMIM
ClinVar
PMID:18414213, PMID:20036350, PMID:20301500, PMID:20512146, PMID:22282472, PMID:23351400, PMID:24033266, PMID:25741868, PMID:26092869, PMID:26467025, PMID:26673778, PMID:28492532, PMID:28497568, PMID:20512146 RGD:11067331 NCBI chr 1:226,601,201...226,606,417
Ensembl chr 1:226,601,201...226,606,344
JBrowse link
Meckel syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem67 transmembrane protein 67 ISO
IAGP
ClinVar Annotator: match by term: Meckel syndrome, type 3
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 3
ClinVar Annotator: match by term: Meckel syndrome type 3
DNA:deletion
DNA:deletions, missense mutation, splice-site mutations: :multiple
DNA:missense mutation:exon:p.P394L (rat)
DNA:missense mutation:exon:p.R549C (c.1645C>T) (human)
DNA:missense mutations: :p.M252T (c.755T>C), p.R441C (c.1392C>T) (human)
DNA:missense mutations:exon: p.M252T (755T>C), p.R440Q (1319G>A), p.L966P (2897T>C) (human)
DNA:missense mutations, splice-site mutation:exon:multiple
ClinVar Annotator: match by OMIM:607361
OMIM
ClinVar
PMID:2929661, PMID:9375913, PMID:10508989, PMID:16415887, PMID:16541367, PMID:17160906, PMID:17185389, PMID:17377820, PMID:17397051, PMID:18327255, PMID:18414213, PMID:19058225, PMID:19466712, PMID:19508969, PMID:19540516, PMID:19574260, PMID:19778711, PMID:20232449, PMID:20607301, PMID:21068128, PMID:21633164, PMID:21866095, PMID:22121117, PMID:23351400, PMID:23559409, PMID:25326635, PMID:25729630, PMID:25741868, PMID:25920555, PMID:26035863, PMID:26092869, PMID:26467025, PMID:26729329, PMID:27491411, PMID:28289063, PMID:28431631, PMID:28492532, PMID:28497568, PMID:28973083, PMID:29127258, PMID:29891882, PMID:29974258, PMID:30311386, PMID:19211713, PMID:16415887, PMID:16415887, PMID:26191240, PMID:23351400, PMID:17377820, PMID:17397051 RGD:11535945, RGD:11535082, RGD:11535082, RGD:11535080, RGD:11535078, RGD:11068761, RGD:11063991 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link
Meckel syndrome 4 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: Meckel syndrome, type 4
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4
ClinVar Annotator: match by term: Meckel syndrome type 4
ClinVar Annotator: match by OMIM:611134
DNA:frameshift mutation:exon:c.5489del (human)
OMIM
ClinVar
PMID:16682970, PMID:16682973, PMID:16909394, PMID:17345604, PMID:17564967, PMID:17564974, PMID:17705300, PMID:17964524, PMID:18414213, PMID:19466712, PMID:19764032, PMID:20683928, PMID:20690115, PMID:21068128, PMID:21153841, PMID:21245082, PMID:21602930, PMID:21866095, PMID:22355252, PMID:22693042, PMID:23027964, PMID:23188109, PMID:23344081, PMID:23351400, PMID:23591405, PMID:23847139, PMID:23954617, PMID:24265693, PMID:25097241, PMID:25741868, PMID:25818971, PMID:25920555, PMID:26047050, PMID:26092869, PMID:26467025, PMID:26477546, PMID:26667666, PMID:27353947, PMID:28041643, PMID:28492532, PMID:28497568, PMID:28829391, PMID:29146704, PMID:29398085, PMID:30311386, PMID:30718709, PMID:17705300 RGD:11070805 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: Meckel syndrome, type 4 ClinVar PMID:28492532 NCBI chr 7:40,304,964...40,315,408
Ensembl chr 7:40,304,988...40,316,532
JBrowse link
Meckel syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Meckel syndrome, type 5
ClinVar Annotator: match by term: Meckel syndrome type 5
ClinVar Annotator: match by OMIM:611561
OMIM
ClinVar
PMID:17558409, PMID:18414213, PMID:19430481, PMID:21068128, PMID:23188109, PMID:24033266, PMID:25741868, PMID:27434533, PMID:28492532, PMID:29343940, PMID:29991045, PMID:30311386 NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
JBrowse link
Meckel syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Meckel syndrome type 6
ClinVar Annotator: match by term: Meckel syndrome, type 6
ClinVar Annotator: match by OMIM:612284
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:18414213, PMID:18513680, PMID:18950740, PMID:19466712, PMID:19777577, PMID:21068128, PMID:21370303, PMID:22241855, PMID:22995991, PMID:24360807, PMID:24706459, PMID:25741868, PMID:26092869, PMID:26467025, PMID:26729329, PMID:27081510, PMID:27082236, PMID:27894351, PMID:28492532, PMID:30311386 NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419
JBrowse link
Meckel syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Meckel syndrome type 7
ClinVar Annotator: match by term: Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia
OMIM
ClinVar
PMID:12872122, PMID:17855640, PMID:18371931, PMID:20007846, PMID:23188109, PMID:23559409, PMID:24033266, PMID:25741868, PMID:26184788, PMID:26673778, PMID:27894351, PMID:28492532, PMID:30311386 NCBI chr 8:112,526,553...112,575,745
Ensembl chr 8:112,526,553...112,575,745
JBrowse link
Meckel syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 ISO ClinVar Annotator: match by term: Meckel syndrome type 8 ClinVar PMID:25741868, PMID:28492532 NCBI chr12:37,368,321...37,398,233
Ensembl chr12:37,363,906...37,425,596
JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Meckel syndrome type 8
ClinVar Annotator: match by OMIM:613885
ClinVar Annotator: match by term: Meckel syndrome 8
OMIM
ClinVar
PMID:21462283, PMID:22331178, PMID:23169490, PMID:25326637, PMID:25741868, PMID:26092869, PMID:26729329, PMID:28492532 NCBI chr12:37,400,896...37,427,256
Ensembl chr12:37,363,906...37,425,596
JBrowse link
Meckel Syndrome, Type 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B9d2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Meckel syndrome, type 10
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:21763481, PMID:25741868, PMID:28492532 NCBI chr 1:82,473,254...82,479,704
Ensembl chr 1:82,473,737...82,479,900
JBrowse link
Meckel Syndrome, Type 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem231 transmembrane protein 231 ISO ClinVar Annotator: match by term: Meckel syndrome, type 11
ClinVar Annotator: match by OMIM:615397
OMIM
ClinVar
PMID:23349226, PMID:25558065, PMID:25741868, PMID:25869670, PMID:28492532 NCBI chr19:44,137,444...44,158,624
Ensembl chr19:44,137,423...44,158,624
JBrowse link
Meckel Syndrome, Type 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif14 kinesin family member 14 ISO ClinVar Annotator: match by term: Meckel syndrome 12 ClinVar
OMIM
PMID:24128419, PMID:25741868 NCBI chr13:53,350,073...53,421,992
Ensembl chr13:53,351,717...53,420,111
JBrowse link
Meckel Syndrome, Type 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B9d1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Meckel syndrome, type 9
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:21493627, PMID:25741868, PMID:28492532 NCBI chr10:47,784,294...47,794,399
Ensembl chr10:47,785,033...47,792,590
Ensembl chr10:47,785,033...47,792,590
JBrowse link
nephronophthisis 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Nephronophthisis 12
ClinVar Annotator: match by OMIM:613820
OMIM
ClinVar
PMID:18414213, PMID:21258341, PMID:22773737, PMID:24033266, PMID:24876116, PMID:25741868, PMID:26940125, PMID:28492532, PMID:29068549 NCBI chr 3:52,286,794...52,361,060
Ensembl chr 3:52,286,794...52,361,060
JBrowse link
nephronophthisis 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp423 zinc finger protein 423 ISO ClinVar Annotator: match by term: Nephronophthisis 14
ClinVar Annotator: match by OMIM:614844
OMIM
ClinVar
PMID:22863007, PMID:25741868, PMID:26539891, PMID:28492532 NCBI chr19:20,147,201...20,405,999
Ensembl chr19:20,147,037...20,406,003
JBrowse link
primary ciliary dyskinesia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:11,060,584...11,144,806
Ensembl chr20:11,114,164...11,144,806
JBrowse link
G Ak7 adenylate kinase 7 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:18776131, PMID:20537283, PMID:22801010 NCBI chr 6:129,538,648...129,606,960
Ensembl chr 6:129,538,982...129,606,932
JBrowse link
G Ap1b1 adaptor related protein complex 1 subunit beta 1 ISS MouseDO NCBI chr14:85,230,652...85,281,806
Ensembl chr14:85,230,648...85,281,803
JBrowse link
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Cby1 chibby family member 1, beta catenin antagonist ISS MouseDO NCBI chr 7:120,891,930...120,898,318
Ensembl chr 7:120,891,940...120,897,687
JBrowse link
G Ccdc103 coiled-coil domain containing 103 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:22581229, PMID:23891469, PMID:24033266, PMID:24357714, PMID:25326635, PMID:25741868, PMID:26123568, PMID:27637300, PMID:28492532, PMID:28790179, PMID:30311386 NCBI chr10:90,984,213...90,987,829
Ensembl chr10:90,984,227...90,987,823
JBrowse link
G Ccdc39 coiled-coil domain containing 39 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:21131972, PMID:22693285, PMID:22693295, PMID:23255504, PMID:23891469, PMID:24033266, PMID:24498942, PMID:25118008, PMID:25186273, PMID:25741868, PMID:27637300, PMID:28492532, PMID:30067075 NCBI chr 2:120,278,605...120,367,829
Ensembl chr 2:120,278,605...120,316,600
JBrowse link
G Ccdc40 coiled-coil domain containing 40 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:18414213, PMID:21131974, PMID:22499950, PMID:22693285, PMID:23255504, PMID:23261302, PMID:23757202, PMID:23891469, PMID:24033266, PMID:24498942, PMID:24518672, PMID:25619595, PMID:25741868, PMID:25877373, PMID:26228299, PMID:28492532, PMID:31443223 NCBI chr10:108,055,270...108,393,408
Ensembl chr10:108,340,240...108,372,862
JBrowse link
G Ccdc65 coiled-coil domain containing 65 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 NCBI chr 7:140,383,395...140,397,186
Ensembl chr 7:140,383,397...140,397,179
JBrowse link
G Ccno cyclin O ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:24747639, PMID:25741868, PMID:26139845, PMID:26777464, PMID:28492532 NCBI chr 2:44,857,043...44,860,317
Ensembl chr 2:44,857,213...44,860,315
JBrowse link
G Cdca7l cell division cycle associated 7 like ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:22184204, PMID:24033266, PMID:24450482, PMID:25741868, PMID:28492532 NCBI chr 6:145,739,570...145,785,607
Ensembl chr 6:145,740,035...145,785,606
JBrowse link
G Cfap298 cilia and flagella associated protein 298 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:24094744, PMID:25741868, PMID:28492532 NCBI chr11:31,094,103...31,103,487
Ensembl chr11:31,094,084...31,103,520
JBrowse link
G Cryaa crystallin, alpha A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,438,444...10,442,189
Ensembl chr20:10,438,444...10,442,187
JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,966,357...10,968,399
Ensembl chr20:10,966,331...10,968,432
JBrowse link
G Cybb cytochrome b-245 beta chain ISO ClinVar Annotator: match by term: Primary ciliary Dyskinesia ClinVar NCBI chr  X:14,578,330...14,610,049
Ensembl chr  X:14,578,264...14,612,547
JBrowse link
G Daw1 dynein assembly factor with WD repeats 1 ISS MouseDO NCBI chr 9:88,964,530...89,001,568
Ensembl chr 9:88,964,525...89,001,567
JBrowse link
G Dnaaf1 dynein, axonemal, assembly factor 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:19944400, PMID:19944405, PMID:22499950, PMID:23599692, PMID:24033266, PMID:24307375, PMID:24498942, PMID:25158045, PMID:25741868, PMID:27543293, PMID:27884173, PMID:28492532, PMID:28991257, PMID:29228333 NCBI chr19:52,217,427...52,245,930
Ensembl chr19:52,217,984...52,245,929
JBrowse link
G Dnaaf2 dynein, axonemal, assembly factor 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:19052621, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 6:91,481,439...91,490,189
Ensembl chr 6:91,481,954...91,490,366
JBrowse link
G Dnaaf3 dynein, axonemal, assembly factor 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:10745040, PMID:22387996, PMID:22876777, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 1:72,874,131...72,882,867
Ensembl chr 1:72,874,404...72,883,002
JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:23872636, PMID:24033266, PMID:24824133, PMID:25741868, PMID:26139845, PMID:28492532 NCBI chr 8:79,637,678...79,651,892
Ensembl chr 8:79,638,696...79,651,884
JBrowse link
G Dnaaf5 dynein, axonemal, assembly factor 5 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:23040496, PMID:24307375, PMID:25232951, PMID:25741868, PMID:28492532, PMID:29358401, PMID:29363216 NCBI chr12:17,545,468...17,584,466
Ensembl chr12:17,545,468...17,584,466
JBrowse link
G Dnah1 dynein, axonemal, heavy chain 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868, PMID:28492532 NCBI chr16:7,345,131...7,407,009
Ensembl chr16:7,345,978...7,408,265
JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:2690980, PMID:18022865, PMID:20513915, PMID:22102620, PMID:22184204, PMID:24033266, PMID:24450482, PMID:24498942, PMID:25741868, PMID:25802884, PMID:26139845, PMID:26729821, PMID:26909801, PMID:27637300, PMID:27637763, PMID:28492532, PMID:28976722, PMID:29997923, PMID:30067075, PMID:30311386, PMID:30359267, PMID:31040315 NCBI chr 6:145,784,893...146,099,212
Ensembl chr 6:145,785,275...146,099,053
JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 ISO
ISS
ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar
MouseDO
PMID:2127064, PMID:2389146, PMID:11788826, PMID:11912187, PMID:12615011, PMID:15750039, PMID:16492982, PMID:16627867, PMID:17534128, PMID:18492703, PMID:18950741, PMID:19357118, PMID:19630565, PMID:21270641, PMID:22416021, PMID:22499950, PMID:23261302, PMID:23477994, PMID:23891469, PMID:24033266, PMID:24150548, PMID:24267886, PMID:24498942, PMID:24905662, PMID:25066065, PMID:25118008, PMID:25186273, PMID:25326635, PMID:25741868, PMID:25802884, PMID:26139845, PMID:26228299, PMID:26373788, PMID:26918822, PMID:26938784, PMID:27618201, PMID:27637300, PMID:27779714, PMID:28492532, PMID:29363216, PMID:29402277, PMID:29453417, PMID:30067075, PMID:30311386 NCBI chr 2:80,947,730...81,143,997
NCBI chr 2:81,159,060...81,337,560
Ensembl chr 2:80,948,658...81,143,447
JBrowse link
G Dnah7 dynein, axonemal, heavy chain 7 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 9:60,070,087...60,330,121
NCBI chr 9:59,564,253...59,595,347
Ensembl chr 9:60,070,739...60,330,125
Ensembl chr 9:60,070,739...60,330,125
JBrowse link
G Dnah8 dynein, axonemal, heavy chain 8 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:24033266, PMID:24307375, PMID:25741868, PMID:28492532 NCBI chr20:9,301,317...9,560,805
Ensembl chr20:9,313,271...9,560,682
JBrowse link
G Dnah9 dynein, axonemal, heavy chain 9 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 NCBI chr10:52,351,226...52,711,289
Ensembl chr10:52,351,192...52,710,862
JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:10577904, PMID:11231901, PMID:11713099, PMID:16858015, PMID:18434704, PMID:19675306, PMID:21143860, PMID:21270641, PMID:23477994, PMID:24033266, PMID:24498942, PMID:25741868, PMID:25802884, PMID:26918822, PMID:28492532, PMID:28939216, PMID:29363216 NCBI chr 5:57,947,796...58,017,985
Ensembl chr 5:57,947,716...58,017,992
JBrowse link
G Dnai2 dynein, axonemal, intermediate chain 2 ISO
ISS
ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar
MouseDO
PMID:18950741, PMID:23261302, PMID:23891469, PMID:24033266, PMID:25741868, PMID:25802884, PMID:28492532 NCBI chr10:103,266,343...103,301,521
Ensembl chr10:103,266,296...103,301,544
JBrowse link
G Dnajb13 DnaJ heat shock protein family (Hsp40) member B13 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 NCBI chr 1:165,515,718...165,530,163
Ensembl chr 1:165,515,726...165,530,095
JBrowse link
G Dnal1 dynein, axonemal, light chain 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:21496787, PMID:24033266, PMID:28492532 NCBI chr 6:107,596,785...107,623,869
Ensembl chr 6:107,596,782...107,625,214
JBrowse link
G Dpcd deleted in primary ciliary dyskinesia ISS MouseDO NCBI chr 1:265,298,872...265,318,521
Ensembl chr 1:265,298,868...265,317,860
JBrowse link
G Drc1 dynein regulatory complex subunit 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:12746204, PMID:23354437, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 6:27,425,237...27,460,038
Ensembl chr 6:27,425,235...27,460,038
JBrowse link
G Foxj1 forkhead box J1 ISS MouseDO NCBI chr10:105,282,090...105,289,396 JBrowse link
G Gaa glucosidase, alpha, acid ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:18414213, PMID:23757202, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr10:108,395,873...108,412,999
Ensembl chr10:108,395,860...108,413,059
JBrowse link
G Gas2l2 growth arrest-specific 2 like 2 ISS MouseDO NCBI chr10:70,639,429...70,646,402
Ensembl chr10:70,639,862...70,646,495
JBrowse link
G Gas8 growth arrest specific 8 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868, PMID:28492532 NCBI chr19:56,316,367...56,335,873
Ensembl chr19:56,316,268...56,335,870
JBrowse link
G Gatd3a glutamine amidotransferase like class 1 domain containing 3A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:11,244,353...11,252,450
Ensembl chr20:11,244,353...11,252,449
JBrowse link
G Gfap glial fibrillary acidic protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar NCBI chr10:90,990,762...90,999,435
Ensembl chr10:90,990,762...90,999,506
JBrowse link
G Hsf2bp heat shock transcription factor 2 binding protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,757,172...10,844,177
Ensembl chr20:10,757,854...10,844,178
JBrowse link
G LOC691354 hypothetical protein LOC691354 ISS MouseDO NCBI chr 5:165,464,832...165,491,375
Ensembl chr 5:165,465,095...165,481,914
JBrowse link
G Lrrc6 leucine rich repeat containing 6 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 7:107,130,402...107,231,507
Ensembl chr 7:107,130,402...107,223,047
JBrowse link
G Mcidas multiciliate differentiation and DNA synthesis associated cell cycle protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25048963, PMID:25741868, PMID:28492532 NCBI chr 2:44,863,246...44,869,732
Ensembl chr 2:44,863,252...44,870,536
JBrowse link
G Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 6:91,476,698...91,479,187
Ensembl chr 6:91,476,698...91,479,183
JBrowse link
G Ndufv3 NADH:ubiquinone oxidoreductase subunit V3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,265,826...10,275,298
Ensembl chr20:10,265,806...10,275,304
JBrowse link
G Odad1 outer dynein arm docking complex subunit 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:23261302, PMID:23261303, PMID:25741868, PMID:28492532 NCBI chr 1:101,904,042...101,932,999
Ensembl chr 1:101,906,903...101,932,998
JBrowse link
G Odad2 outer dynein arm docking complex subunit 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:23806086, PMID:23849778, PMID:24033266, PMID:24088041, PMID:25741868, PMID:28492532 NCBI chr17:60,283,926...60,474,289
Ensembl chr17:60,287,203...60,474,031
JBrowse link
G Odad3 outer dynein arm docking complex subunit 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 NCBI chr 8:23,000,912...23,014,707
Ensembl chr 8:23,000,872...23,014,499
JBrowse link
G Ofd1 OFD1, centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 NCBI chr  X:29,562,165...29,602,934
Ensembl chr  X:29,562,165...29,602,925
JBrowse link
G Otc ornithine carbamoyltransferase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISS MouseDO NCBI chr 1:236,031,988...236,313,858
Ensembl chr 1:236,031,988...236,313,858
JBrowse link
G Pde9a phosphodiesterase 9A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,123,624...10,216,325
Ensembl chr20:10,123,651...10,216,548
JBrowse link
G Pknox1 PBX/knotted 1 homeobox 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,331,608...10,358,922
Ensembl chr20:10,334,308...10,358,922
JBrowse link
G Prkar1b protein kinase cAMP-dependent type I regulatory subunit beta ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868, PMID:28492532 NCBI chr12:17,614,536...17,713,567
Ensembl chr12:17,614,632...17,712,373
JBrowse link
G Ptcd3 Pentatricopeptide repeat domain 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:21131974, PMID:23255504, PMID:25741868 NCBI chr 4:99,795,646...99,822,960
Ensembl chr 4:99,795,656...99,822,992
JBrowse link
G Pwp2 PWP2, small subunit processome component ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:11,228,892...11,243,204
Ensembl chr20:11,228,844...11,243,205
JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:91,206,394...91,217,491
Ensembl chr 3:91,206,394...91,217,491
JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:8673101, PMID:9399904, PMID:9855162, PMID:10737996, PMID:10937588, PMID:24033266, PMID:25741868, PMID:28492532, PMID:29453956 NCBI chr  X:14,271,012...14,331,745
Ensembl chr  X:14,271,017...14,331,486
JBrowse link
G Rrp1 ribosomal RNA processing 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,982,016...10,993,260
Ensembl chr20:10,981,998...10,993,280
JBrowse link
G Rrp1b ribosomal RNA processing 1B ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,844,234...10,869,830
Ensembl chr20:10,844,266...10,869,821
JBrowse link
G Rsph1 radial spoke head component 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:23993197, PMID:24033266, PMID:24518672, PMID:24568568, PMID:25741868, PMID:26139845, PMID:28492532 NCBI chr20:9,998,698...10,020,719
Ensembl chr20:9,998,701...10,013,559
JBrowse link
G Rsph3 radial spoke head 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 NCBI chr 1:47,412,151...47,478,924
Ensembl chr 1:47,426,258...47,477,524
JBrowse link
G Rsph4a radial spoke head component 4A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:19200523, PMID:22448264, PMID:23798057, PMID:23993197, PMID:24033266, PMID:25741868, PMID:25789548, PMID:28492532 NCBI chr20:32,450,701...32,467,362
Ensembl chr20:32,450,733...32,467,194
Ensembl chr20:32,450,733...32,467,194
JBrowse link
G Rsph9 radial spoke head component 9 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:19200523, PMID:23993197, PMID:24033266, PMID:24307375, PMID:25741868, PMID:28492532 NCBI chr 9:17,224,589...17,245,093
Ensembl chr 9:17,225,122...17,245,093
JBrowse link
G Sik1 salt-inducible kinase 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,670,747...10,680,279
Ensembl chr20:10,668,411...10,680,283
JBrowse link
G Slc37a1 solute carrier family 37 member 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,026,839...10,087,691
Ensembl chr20:10,032,641...10,087,688
JBrowse link
G Slit2 slit guidance ligand 2 ISS MouseDO NCBI chr14:66,831,848...67,171,491
Ensembl chr14:66,831,848...67,170,361
JBrowse link
G Spag1 sperm associated antigen 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:24055112, PMID:25741868, PMID:26228299, PMID:27637300, PMID:28492532 NCBI chr 7:74,994,379...75,054,294
Ensembl chr 7:74,994,605...75,054,293
JBrowse link
G Spef2 sperm flagellar 2 ISS
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia MouseDO
ClinVar
PMID:31942643 NCBI chr 2:58,901,937...59,084,194
Ensembl chr 2:58,901,939...59,181,863
JBrowse link
G Taf1c TATA-box binding protein associated factor, RNA polymerase 1 subunit C ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:19944400, PMID:19944405, PMID:24033266 NCBI chr19:52,246,061...52,252,642
Ensembl chr19:52,246,068...52,252,587
JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:22876777, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 1:72,882,806...72,886,490
Ensembl chr 1:72,882,806...72,886,488
JBrowse link
G Tnnt1 troponin T1, slow skeletal type ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 1:72,889,270...72,899,629
Ensembl chr 1:72,889,270...72,899,659
JBrowse link
G Trappc10 trafficking protein particle complex 10 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:11,168,298...11,228,634
Ensembl chr20:11,168,298...11,228,625
JBrowse link
G Ttc14 tetratricopeptide repeat domain 14 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:21131972, PMID:23255504, PMID:23891469, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 2:120,266,883...120,277,505
Ensembl chr 2:120,266,933...120,276,616
JBrowse link
G Ttll1 tubulin tyrosine ligase like 1 ISS MouseDO NCBI chr 7:124,338,396...124,367,719
Ensembl chr 7:124,338,395...124,367,630
JBrowse link
G U2af1 U2 small nuclear RNA auxiliary factor 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,396,652...10,407,564
Ensembl chr20:10,396,621...10,407,554
JBrowse link
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,240,571...10,264,818
Ensembl chr20:10,239,154...10,257,044
JBrowse link
G Zfp18 zinc finger protein 18 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 NCBI chr10:52,327,668...52,350,944
Ensembl chr10:52,334,240...52,348,692
JBrowse link
G Zmynd10 zinc finger, MYND-type containing 10 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:23891469, PMID:23891471, PMID:25741868, PMID:28492532 NCBI chr 8:116,302,513...116,306,871
Ensembl chr 8:116,302,513...116,306,870
JBrowse link
primary ciliary dyskinesia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnai1 dynein, axonemal, intermediate chain 1 ISO OMIM NCBI chr 5:57,947,796...58,017,985
Ensembl chr 5:57,947,716...58,017,992
JBrowse link
primary ciliary dyskinesia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnaaf2 dynein, axonemal, assembly factor 2 ISO ClinVar Annotator: match by OMIM:612518
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 10
ClinVar
OMIM
PMID:19052621, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 6:91,481,439...91,490,189
Ensembl chr 6:91,481,954...91,490,366
JBrowse link
G Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 10 ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 6:91,476,698...91,479,187
Ensembl chr 6:91,476,698...91,479,183
JBrowse link
primary ciliary dyskinesia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rsph4a radial spoke head component 4A ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 11
ClinVar Annotator: match by OMIM:612649
OMIM
ClinVar
PMID:19200523, PMID:22448264, PMID:23798057, PMID:23993197, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr20:32,450,701...32,467,362
Ensembl chr20:32,450,733...32,467,194
Ensembl chr20:32,450,733...32,467,194
JBrowse link
primary ciliary dyskinesia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rsph9 radial spoke head component 9 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 12
ClinVar Annotator: match by OMIM:612650
OMIM
ClinVar
PMID:19200523, PMID:23993197, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 9:17,224,589...17,245,093
Ensembl chr 9:17,225,122...17,245,093
JBrowse link
primary ciliary dyskinesia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnaaf1 dynein, axonemal, assembly factor 1 ISO ClinVar Annotator: match by OMIM:613193
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 13
ClinVar
OMIM
PMID:19944400, PMID:19944405, PMID:22499950, PMID:23599692, PMID:24033266, PMID:24498942, PMID:25158045, PMID:25741868, PMID:27884173, PMID:28492532 NCBI chr19:52,217,427...52,245,930
Ensembl chr19:52,217,984...52,245,929
JBrowse link
G Taf1c TATA-box binding protein associated factor, RNA polymerase 1 subunit C ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 13 ClinVar PMID:25741868 NCBI chr19:52,246,061...52,252,642
Ensembl chr19:52,246,068...52,252,587
JBrowse link
primary ciliary dyskinesia 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc39 coiled-coil domain containing 39 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 14
ClinVar Annotator: match by OMIM:613807
OMIM
ClinVar
PMID:21131972, PMID:22693285, PMID:22693295, PMID:23255504, PMID:24033266, PMID:25118008, PMID:25186273, PMID:25741868, PMID:27637300, PMID:28492532, PMID:30067075 NCBI chr 2:120,278,605...120,367,829
Ensembl chr 2:120,278,605...120,316,600
JBrowse link
G Ttc14 tetratricopeptide repeat domain 14 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 14 ClinVar PMID:21131972, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 2:120,266,883...120,277,505
Ensembl chr 2:120,266,933...120,276,616
JBrowse link
primary ciliary dyskinesia 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc40 coiled-coil domain containing 40 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 15
ClinVar Annotator: match by OMIM:613808
OMIM
ClinVar
PMID:21131974, PMID:22499950, PMID:22693285, PMID:23255504, PMID:23261302, PMID:23891469, PMID:24033266, PMID:25619595, PMID:25741868, PMID:25877373, PMID:26228299, PMID:28492532 NCBI chr10:108,055,270...108,393,408
Ensembl chr10:108,340,240...108,372,862
JBrowse link
G Gaa glucosidase, alpha, acid ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 15 ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr10:108,395,873...108,412,999
Ensembl chr10:108,395,860...108,413,059
JBrowse link
primary ciliary dyskinesia 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 16 ClinVar PMID:28492532 NCBI chr 6:108,146,552...108,167,185
Ensembl chr 6:108,146,582...108,167,185
JBrowse link
G Bbof1 basal body orientation factor 1 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 16 ClinVar PMID:28492532 NCBI chr 6:108,123,855...108,149,613
Ensembl chr 6:108,123,816...108,149,607
JBrowse link
G Coq6 coenzyme Q6 monooxygenase ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 16 ClinVar PMID:28492532 NCBI chr 6:108,076,393...108,087,782
Ensembl chr 6:108,076,306...108,087,696
JBrowse link
G Dnal1 dynein, axonemal, light chain 1 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 16
ClinVar Annotator: match by OMIM:614017
OMIM
ClinVar
PMID:21496787, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 6:107,596,785...107,623,869
Ensembl chr 6:107,596,782...107,625,214
JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 16 ClinVar PMID:28492532 NCBI chr 6:108,087,677...108,123,811
Ensembl chr 6:108,087,418...108,120,579
JBrowse link
G Fam161b FAM161 centrosomal protein B ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 16 ClinVar PMID:28492532 NCBI chr 6:108,060,019...108,076,303
Ensembl chr 6:108,061,063...108,076,186
JBrowse link
G Lin52 lin-52 DREAM MuvB core complex component ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 16 ClinVar PMID:28492532 NCBI chr 6:108,167,412...108,264,459
Ensembl chr 6:108,167,716...108,178,508
JBrowse link
G Mideas mitotic deacetylase associated SANT domain protein ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 16 ClinVar PMID:28492532 NCBI chr 6:107,633,762...107,703,462
Ensembl chr 6:107,633,716...107,678,156
JBrowse link
G Pnma1 PNMA family member 1 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 16 ClinVar PMID:28492532 NCBI chr 6:107,631,227...107,633,012
Ensembl chr 6:107,631,227...107,633,012
JBrowse link
G Ptgr2 prostaglandin reductase 2 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 16 ClinVar PMID:28492532 NCBI chr 6:107,999,832...108,031,645
Ensembl chr 6:107,999,846...108,031,643
JBrowse link
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 16 ClinVar PMID:28492532 NCBI chr 6:108,285,031...108,308,588
Ensembl chr 6:108,285,822...108,308,587
JBrowse link
G Zfp410 zinc finger protein 410 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 16 ClinVar PMID:28492532 NCBI chr 6:108,031,747...108,058,836
Ensembl chr 6:108,032,856...108,058,809
JBrowse link
primary ciliary dyskinesia 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc103 coiled-coil domain containing 103 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 17
ClinVar Annotator: match by OMIM:614679
OMIM
ClinVar
PMID:22581229, PMID:23891469, PMID:24033266, PMID:24357714, PMID:25326635, PMID:25741868, PMID:26123568, PMID:27637300, PMID:28492532, PMID:28790179, PMID:30311386 NCBI chr10:90,984,213...90,987,829
Ensembl chr10:90,984,227...90,987,823
JBrowse link
G Gfap glial fibrillary acidic protein ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 17 ClinVar NCBI chr10:90,990,762...90,999,435
Ensembl chr10:90,990,762...90,999,506
JBrowse link
primary ciliary dyskinesia 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnaaf5 dynein, axonemal, assembly factor 5 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 18 ClinVar
OMIM
PMID:23040496, PMID:25741868, PMID:28492532, PMID:29358401, PMID:29363216 NCBI chr12:17,545,468...17,584,466
Ensembl chr12:17,545,468...17,584,466
JBrowse link
G Prkar1b protein kinase cAMP-dependent type I regulatory subunit beta ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 18 ClinVar PMID:25741868, PMID:28492532, PMID:29363216 NCBI chr12:17,614,536...17,713,567
Ensembl chr12:17,614,632...17,712,373
JBrowse link
primary ciliary dyskinesia 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrc6 leucine rich repeat containing 6 ISO ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 19, WITH OR WITHOUT SITUS INVERSUS
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 19
OMIM
ClinVar
PMID:8066563, PMID:12162599, PMID:14656747, PMID:19606528, PMID:23122589, PMID:23527195, PMID:23891469, PMID:24033266, PMID:24307375, PMID:25741868, PMID:27637300, PMID:28492532, PMID:30311386 NCBI chr 7:107,130,402...107,231,507
Ensembl chr 7:107,130,402...107,223,047
JBrowse link
primary ciliary dyskinesia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnaaf3 dynein, axonemal, assembly factor 3 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 2
ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 2, WITH OR WITHOUT SITUS INVERSUS
ClinVar Annotator: match by OMIM:606763
OMIM
ClinVar
PMID:10745040, PMID:22387996, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 1:72,874,131...72,882,867
Ensembl chr 1:72,874,404...72,883,002
JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 2, WITH OR WITHOUT SITUS INVERSUS ClinVar PMID:24033266, PMID:25741868 NCBI chr 1:72,882,806...72,886,490
Ensembl chr 1:72,882,806...72,886,488
JBrowse link
primary ciliary dyskinesia 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Odad1 outer dynein arm docking complex subunit 1 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 20
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:23261302, PMID:23261303, PMID:25741868, PMID:28492532 NCBI chr 1:101,904,042...101,932,999
Ensembl chr 1:101,906,903...101,932,998
JBrowse link
primary ciliary dyskinesia 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Drc1 dynein regulatory complex subunit 1 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 21
ClinVar Annotator: match by OMIM:615294
OMIM
ClinVar
PMID:12746204, PMID:23354437, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 6:27,425,237...27,460,038
Ensembl chr 6:27,425,235...27,460,038
JBrowse link
primary ciliary dyskinesia 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position