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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:Joubert syndrome
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Accession:DOID:0050777 term browser browse the term
Definition:A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. (DO)
Synonyms:exact_synonym: JBTS;   Joubert syndrome and related disorders
 xref: GARD:6802;   OMIM:PS213300;   ORDO:475
For additional species annotation, visit the Alliance of Genome Resources.



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Joubert syndrome 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 and Related Disorders
ClinVar Annotator: match by term: Joubert syndrome and related disorders
ClinVar PMID:18674751 PMID:28492532 NCBI chr11:150,100...217,103
Ensembl chr11:150,955...217,197
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:24886560 PMID:26092869 NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008
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:18950740 PMID:19777577 PMID:22241855 PMID:22425360 PMID:23012439 More... NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
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:16199547 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 More... NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392
JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
DNA:missense mutations, nonsense mutation:exon:multiple
ClinVar
RGD
PMID:23386033 RGD:12911208 NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
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 and related disorders
ClinVar PMID:20301500 PMID:24033266 PMID:25741868 PMID:26026149 PMID:26096313 More... NCBI chr 6:89,622,711...89,725,951
Ensembl chr 6:89,623,699...89,725,962
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 2:87,025,671...87,060,313
Ensembl chr 2:87,025,598...87,060,294
JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:17185389 PMID:17397051 PMID:19466712 PMID:23351400 PMID:24886560 More... NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
JBrowse link
G Ofd1 OFD1, centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:28,015,347...28,056,110
JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:17558409 PMID:19430481 PMID:20301500 PMID:25741868 PMID:28492532 NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:26092869 PMID:28771248 NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069
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
RGD
PMID:20036350 PMID:20301500 PMID:20512146 PMID:22282472 PMID:23351400 More... RGD:11067331 NCBI chr 1:207,196,454...207,201,704
Ensembl chr 1:207,196,454...207,201,754
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 and related disorders
ClinVar PMID:28492532 NCBI chr19:39,883,077...39,904,296
Ensembl chr19:39,883,077...39,904,269
JBrowse link
G Tmem237 transmembrane protein 237 ISO DNA:nonsense,transition mutations:cds,splice junction: RGD PMID:22152675 RGD:11561921 NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:60,535,233...60,572,567
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:9375913 PMID:17377820 PMID:17397051 PMID:18414213 PMID:19058225 More... NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
JBrowse link
G Zic1 Zic family member 1 ISS MouseDO NCBI chr 8:91,908,548...91,918,020
Ensembl chr 8:91,908,576...91,912,731
JBrowse link
Joubert syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:28492532 NCBI chr 3:9,416,842...9,428,567
Ensembl chr 3:9,416,843...9,428,371
JBrowse link
G Ahi1 Abelson helper integration site 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:9536098 PMID:15322546 PMID:15467982 PMID:16155189 PMID:16199547 More... NCBI chr 1:15,768,047...15,886,744
Ensembl chr 1:15,762,462...15,891,041
JBrowse link
G Arl13b ADP-ribosylation factor like GTPase 13B ISO ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr11:150,100...217,103
Ensembl chr11:150,955...217,197
JBrowse link
G Armc9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:28492532 PMID:28625504 PMID:31474318 NCBI chr 9:86,802,791...86,928,860
Ensembl chr 9:86,802,868...86,928,860
JBrowse link
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:25741868 PMID:28492532 NCBI chr12:31,949,863...31,979,777
Ensembl chr12:31,822,733...32,007,069
JBrowse link
G B9d1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar PMID:21493627 PMID:24886560 PMID:25741868 PMID:25920555 PMID:26092869 More... NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008
JBrowse link
G B9d2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:25741868 PMID:26092869 PMID:28492532 NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:81,189,405...81,195,356
JBrowse link
G C2cd3 C2 domain containing 3 centriole elongation regulator ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:24997988 PMID:25741868 PMID:26092869 NCBI chr 1:154,715,151...154,812,955
Ensembl chr 1:154,715,310...154,812,520
JBrowse link
G Cby1 chibby family member 1, beta catenin antagonist ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:33131181 NCBI chr 7:111,216,835...111,223,305 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-Boltshauser syndrome
ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar PMID:8253763 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
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 syndrome 1
ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392
JBrowse link
G Cep41 centrosomal protein 41 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:59,271,218...59,312,343
Ensembl chr 4:59,271,218...59,310,668
JBrowse link
G Cluap1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:28679688 NCBI chr10:11,587,963...11,619,711
Ensembl chr10:11,588,017...11,619,711
JBrowse link
G Cplane1 ciliogenesis and planar polarity effector complex subunit 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: Cerebellooculorenal syndrome 1
ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar PMID:22425360 PMID:24033266 PMID:25741868 PMID:26092869 PMID:28492532 NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500
JBrowse link
G Cyb561a3 cytochrome b561 family, member A3 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr 1:207,216,185...207,237,575
Ensembl chr 1:207,226,230...207,237,571
JBrowse link
G Egfl7 EGF-like-domain, multiple 7 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:28492532 NCBI chr 3:9,404,622...9,416,879
Ensembl chr 3:9,407,520...9,416,879
JBrowse link
G Entr1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:28492532 NCBI chr 3:9,200,967...9,207,688
Ensembl chr 3:9,200,967...9,207,688
JBrowse link
G Exoc8 exocyst complex component 8 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:22700954 NCBI chr19:52,855,010...52,857,499
Ensembl chr19:52,852,578...52,857,491
JBrowse link
G Fam149b1 family with sequence similarity 149, member B1 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:30905400 NCBI chr15:3,929,190...3,967,140
Ensembl chr15:3,929,190...3,966,997
JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:24140113 PMID:26092869 NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860
JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis
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:9536098 PMID:15786477 PMID:17576681 PMID:18414213 PMID:19668215 More... NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
JBrowse link
G Katnip katanin interacting protein ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:26714646 NCBI chr 1:180,270,194...180,436,766
Ensembl chr 1:180,269,929...180,436,766
JBrowse link
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:21633164 PMID:25741868 NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
JBrowse link
G Kitlg KIT ligand ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:19764032 PMID:23954617 PMID:27821535 PMID:28492532 NCBI chr 7:34,896,075...34,977,215
Ensembl chr 7:34,896,053...34,977,214
JBrowse link
G LOC500827 similar to hypothetical protein FLJ35821 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:19764032 PMID:23954617 PMID:27821535 PMID:28492532 NCBI chr 7:35,406,147...35,443,324
Ensembl chr 7:35,411,555...35,443,320
JBrowse link
G LOC690035 similar to Protein KIAA0586 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:20301500 PMID:24033266 PMID:25741868 PMID:26026149 PMID:26096313 More... NCBI chr 6:89,622,711...89,725,951
Ensembl chr 6:89,623,699...89,725,962
JBrowse link
G Lrrc34 leucine rich repeat containing 34 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr 2:112,752,294...112,774,463
Ensembl chr 2:112,754,578...112,774,459
JBrowse link
G Micall2 MICAL-like 2 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar NCBI chr12:14,899,151...14,927,949
Ensembl chr12:14,899,157...14,927,946
JBrowse link
G Mir126b microRNA 126b ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:28492532 NCBI chr 3:9,415,087...9,415,159 JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:9536098 PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 More... NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:28492532 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
JBrowse link
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:24746959 PMID:25741868 PMID:28492532 NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
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:9536098 PMID:11179005 PMID:12595504 PMID:16199547 PMID:16311594 More... NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:28,015,347...28,056,110
JBrowse link
G Pdpr pyruvate dehydrogenase phosphatase regulatory subunit ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:25558065 PMID:27894351 NCBI chr19:39,065,226...39,109,695
Ensembl chr19:39,065,157...39,109,688
JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:25741868 PMID:26167768 NCBI chr15:75,850,389...76,019,711
Ensembl chr15:75,850,624...76,019,712
JBrowse link
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:28492532 NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844
JBrowse link
G Rcor1 REST corepressor 1 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:26489029 NCBI chr 6:130,069,606...130,146,164
Ensembl chr 6:130,069,392...130,146,153
JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:16682973 PMID:16909394 PMID:17564967 PMID:19764032 PMID:20683928 More... NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 More... NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
JBrowse link
G Sec16a SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:28492532 NCBI chr 3:9,229,687...9,264,837
Ensembl chr 3:9,229,687...9,264,273
JBrowse link
G Tctn1 tectonic family member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Agenesis of cerebellar vermis
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21725307 PMID:25741868 More... NCBI chr12:34,309,795...34,347,190
Ensembl chr12:34,309,897...34,342,267
JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:9536098 PMID:17576681 PMID:21565611 PMID:22331178 PMID:24033266 More... NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:28492532 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Tmem138 transmembrane protein 138 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr 1:207,219,113...207,226,159 JBrowse link
G Tmem17 transmembrane protein 17 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar NCBI chr14:96,483,648...96,524,238
Ensembl chr14:96,518,793...96,524,233
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:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20036350 More... NCBI chr 1:207,196,454...207,201,704
Ensembl chr 1:207,196,454...207,201,754
JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:33791682 NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927
JBrowse link
G Tmem231 transmembrane protein 231 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:25741868 NCBI chr19:39,883,077...39,904,296
Ensembl chr19:39,883,077...39,904,269
JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar PMID:17603801 PMID:20301500 PMID:22152675 PMID:22981120 PMID:24033266 More... NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:60,535,233...60,572,567
JBrowse link
G Tmem67 transmembrane protein 67 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 PMID:2929661 PMID:9375913 PMID:9536098 PMID:12368986 PMID:17160906 More... NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
JBrowse link
G Tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:19764032 PMID:23954617 PMID:27821535 PMID:28492532 NCBI chr 7:35,264,886...35,310,010
Ensembl chr 7:35,264,892...35,310,385
JBrowse link
G Togaram1 TOG array regulator of axonemal microtubules 1 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:32453716 PMID:32747439 NCBI chr 6:83,019,025...83,083,343
Ensembl chr 6:83,018,859...83,082,807
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar PMID:21258341 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:16963483 PMID:24033266 PMID:25741868 PMID:28041643 PMID:28492532 More... NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922
JBrowse link
G Wdpcp WD repeat containing planar cell polarity effector ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:27158779 PMID:28492532 NCBI chr14:95,645,955...95,977,120
Ensembl chr14:95,646,038...95,977,113
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
RGD
PMID:16783569 PMID:18546297 PMID:19800048 PMID:20301500 PMID:22353940 More... RGD:11535965, RGD:11535963 NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:28,015,347...28,056,110
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 PMID:22246503 NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
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:16199547 PMID:18414213 PMID:20301500 PMID:21725307 PMID:25558065 More... NCBI chr12:34,309,795...34,347,190
Ensembl chr12:34,309,897...34,342,267
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:22152675 PMID:28492532 NCBI chr 9:60,434,926...60,530,843
Ensembl chr 9:60,434,925...60,530,806
JBrowse link
G Mpp4 MAGUK p55 scaffold protein 4 ISO ClinVar Annotator: match by term: Joubert syndrome 14 ClinVar PMID:28492532 NCBI chr 9:60,569,734...60,613,035
Ensembl chr 9:60,569,734...60,611,797
JBrowse link
G Stradb STE20 related adaptor beta ISO ClinVar Annotator: match by term: Joubert syndrome 14 ClinVar PMID:28492532 NCBI chr 9:60,414,182...60,433,084
Ensembl chr 9:60,414,182...60,433,084
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:9536098 PMID:14760273 PMID:16199547 PMID:17576681 PMID:17603801 More... NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:60,535,233...60,572,567
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:9536098 PMID:16199547 PMID:17576681 PMID:20301500 PMID:21438139 More... NCBI chr 4:59,271,218...59,312,343
Ensembl chr 4:59,271,218...59,310,668
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 1:207,219,113...207,226,159 JBrowse link
Joubert Syndrome 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Joubert syndrome 17 ClinVar PMID:18319074 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr13:91,904,731...91,933,588
Ensembl chr13:91,904,739...91,931,431
JBrowse link
G Cplane1 ciliogenesis and planar polarity effector complex subunit 1 ISO ClinVar Annotator: match by term: Joubert syndrome 17
DNA:missense mutation: :p.S235P (mouse)
ClinVar Annotator: match by OMIM:614615
OMIM
ClinVar
RGD
PMID:9536098 PMID:10488899 PMID:16199547 PMID:17576681 PMID:18414213 More... RGD:11537349 NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500
JBrowse link
G Crygd crystallin, gamma D ISO ClinVar Annotator: match by term: Joubert syndrome 17 ClinVar PMID:19390652 PMID:22995991 PMID:25741868 PMID:28492532 NCBI chr 9:66,442,054...66,443,668
Ensembl chr 9:66,442,054...66,444,067
JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Joubert syndrome 17 ClinVar PMID:7695243 PMID:9266738 PMID:18046642 PMID:20981092 PMID:25741868 More... NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545
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:25741868 PMID:26092869 PMID:28492532 NCBI chr 1:239,414,004...239,425,319
Ensembl chr 1:239,415,203...239,425,272
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: Joubert syndrome 2
ClinVar Annotator: match by term: Cerebellooculorenal syndrome 2
ClinVar Annotator: match by OMIM:608091
DNA:misense mutation:exon:c.35G>T(p.R12L)(human)
OMIM
ClinVar
RGD
PMID:16199547 PMID:18414213 PMID:20036350 PMID:20301500 PMID:20512146 More... RGD:11561919 NCBI chr 1:207,196,454...207,201,704
Ensembl chr 1:207,196,454...207,201,754
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 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:23012439 PMID:25741868 PMID:25869670 More... NCBI chr19:39,883,077...39,904,296
Ensembl chr19:39,883,077...39,904,269
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:9536098 PMID:17576681 PMID:24360803 PMID:24360807 PMID:24360808 More... NCBI chr 5:8,982,061...9,076,326
Ensembl chr 5:8,981,540...9,076,326
JBrowse link
G Cops5 COP9 signalosome subunit 5 ISO ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar PMID:28492532 NCBI chr 5:9,192,233...9,210,498
Ensembl chr 5:9,192,100...9,210,731
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:9536098 PMID:16199547 PMID:17576681 PMID:20301500 PMID:24033266 More... NCBI chr 5:9,077,161...9,192,402
Ensembl chr 5:9,077,161...9,193,377
JBrowse link
G LOC120103285 small nucleolar RNA SNORD87 ISO ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar PMID:28492532 NCBI chr 5:9,297,489...9,297,573
Ensembl chr 5:9,297,489...9,297,573
JBrowse link
G Mcmdc2 minichromosome maintenance domain containing 2 ISO ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar PMID:28492532 NCBI chr 5:9,291,967...9,337,526
Ensembl chr 5:9,298,101...9,338,300
JBrowse link
G Ppp1r42 protein phosphatase 1, regulatory subunit 42 ISO ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar PMID:28492532 NCBI chr 5:9,227,109...9,274,461
Ensembl chr 5:9,227,204...9,274,453
JBrowse link
G Tcf24 transcription factor 24 ISO ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar PMID:28492532 NCBI chr 5:9,274,659...9,282,876
Ensembl chr 5:9,227,131...9,279,636
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 9:87,192,991...87,237,926
Ensembl chr 9:87,192,983...87,237,969
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:2080096 PMID:2609613 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr 6:89,622,711...89,725,951
Ensembl chr 6:89,623,699...89,725,962
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 chr12:31,949,863...31,979,777
Ensembl chr12:31,822,733...32,007,069
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:9536098 PMID:17576681 PMID:21462283 PMID:21565611 PMID:22331178 More... NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069
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:9536098 PMID:17576681 PMID:25741868 PMID:26477546 PMID:28492532 NCBI chr 5:164,534,773...164,567,260
Ensembl chr 5:164,534,782...164,567,248
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 1:180,270,194...180,436,766
Ensembl chr 1:180,269,929...180,436,766
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:21493627 PMID:24886560 PMID:25741868 PMID:25920555 PMID:26092869 More... NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008
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:16199547 PMID:16415886 PMID:17185389 PMID:17377820 PMID:17397051 More... NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
JBrowse link
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
RGD
PMID:9536098 PMID:15322546 PMID:15467982 PMID:16155189 PMID:16199547 More... RGD:1598905, RGD:11537395, RGD:11537390, RGD:11537388, RGD:11343130, RGD:11537387, RGD:1304518, RGD:11537346 NCBI chr 1:15,768,047...15,886,744
Ensembl chr 1:15,762,462...15,891,041
JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Joubert syndrome 3 ClinVar PMID:21340158 PMID:21387466 PMID:22585553 PMID:24033266 PMID:25741868 More... NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
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 Annotator: match by term: Joubert syndrome 30
ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:28625504 More... NCBI chr 9:86,802,791...86,928,860
Ensembl chr 9:86,802,868...86,928,860
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 Annotator: match by term: Joubert syndrome 31
ClinVar
OMIM
PMID:25741868 PMID:27208211 PMID:28492532 NCBI chr18:47,127,979...47,189,964
Ensembl chr18:47,127,981...47,189,964
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 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
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 Annotator: match by term: Joubert syndrome 33
ClinVar
OMIM
PMID:25741868 PMID:26167768 PMID:28492532 PMID:29695797 PMID:30858804 More... NCBI chr15:75,850,389...76,019,711
Ensembl chr15:75,850,624...76,019,712
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 Annotator: match by term: Joubert syndrome 35
ClinVar
OMIM
PMID:25741868 PMID:30269812 NCBI chr 1:245,400,659...245,446,673
Ensembl chr 1:245,400,550...245,446,820
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 chr15:3,929,190...3,967,140
Ensembl chr15:3,929,190...3,966,997
JBrowse link
Joubert Syndrome 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Togaram1 TOG array regulator of axonemal microtubules 1 ISO ClinVar Annotator: match by term: JOUBERT SYNDROME 37 OMIM
ClinVar
PMID:32453716 PMID:32747439 NCBI chr 6:83,019,025...83,083,343
Ensembl chr 6:83,018,859...83,082,807
JBrowse link
Joubert Syndrome 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RGD1304728 similar to 4933427D14Rik protein ISO ClinVar Annotator: match by term: Joubert syndrome 38
ClinVar Annotator: match by term: JOUBERT SYNDROME 38
OMIM
ClinVar
PMID:25741868 PMID:28220259 NCBI chr10:56,783,869...56,832,668
Ensembl chr10:56,783,775...56,832,968
JBrowse link
Joubert Syndrome 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Joubert syndrome 39 OMIM
ClinVar
PMID:33791682 NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927
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 1:15,768,047...15,886,744
Ensembl chr 1:15,762,462...15,891,041
JBrowse link
G Mall mal, T-cell differentiation protein-like ISO ClinVar Annotator: match by term: Joubert syndrome 4 ClinVar PMID:25741868 NCBI chr 3:114,927,897...114,950,840
Ensembl chr 3:114,927,897...114,950,785
JBrowse link
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: Joubert syndrome 4
associated with Kidney Diseases, Cystic;DNA:mutation
OMIM
ClinVar
RGD
PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 More... RGD:7246903 NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
JBrowse link
G Nphp4 nephrocystin 4 ISO DNA:mutations:exon, intron:multiple RGD PMID:15776426 RGD:11068164 NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706
JBrowse link
Joubert Syndrome 40 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: JOUBERT SYNDROME 40 ClinVar
OMIM
PMID:33531668 PMID:34539760 NCBI chr 5:109,460,372...109,563,839
Ensembl chr 5:109,474,255...109,563,833
JBrowse link
Joubert syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Joubert syndrome 5 ClinVar PMID:9054934 PMID:9295268 PMID:9973280 PMID:11017087 PMID:12037008 More... NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
JBrowse link
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
RGD
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... RGD:11537352, RGD:7246903 NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392
JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Joubert syndrome 5 ClinVar PMID:20683928 PMID:25741868 PMID:28492532 NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
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
RGD
PMID:2929661 PMID:8862632 PMID:9375913 PMID:10567047 PMID:12368986 More... RGD:11072184 NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
JBrowse link
Joubert syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pkd2 polycystin 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Joubert syndrome 7 ClinVar PMID:19936001 PMID:25741868 PMID:28492532 NCBI chr14:5,237,135...5,280,455
Ensembl chr14:5,237,135...5,280,825
JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Joubert syndrome 7 ClinVar NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605
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
RGD
PMID:16199547 PMID:17558407 PMID:17558409 PMID:17960139 PMID:18414213 More... RGD:11537350 NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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
RGD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18674751 PMID:24033266 More... RGD:11553937 NCBI chr11:150,100...217,103
Ensembl chr11:150,955...217,197
JBrowse link
G Nsun3 NOP2/Sun RNA methyltransferase 3 ISO ClinVar Annotator: match by term: Joubert syndrome 8 ClinVar PMID:28492532 NCBI chr11:37,490,832...37,575,607
Ensembl chr11:37,490,838...37,568,543
JBrowse link
G Pros1 protein S ISO ClinVar Annotator: match by term: Joubert syndrome 8 ClinVar PMID:28492532 NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286
JBrowse link
G Stx19 syntaxin 19 ISO ClinVar Annotator: match by term: Joubert syndrome 8 ClinVar PMID:28492532 NCBI chr11:172,855...178,053
Ensembl chr11:171,395...179,191
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 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137
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
RGD
PMID:8253763 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18387594 More... RGD:11535976, RGD:11062645, RGD:11062645 NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
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 PMID:30664616 NCBI chr 4:59,271,218...59,312,343
Ensembl chr 4:59,271,218...59,310,668
JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO ClinVar Annotator: match by term: Joubert syndrome 9 ClinVar PMID:10766140 PMID:16123440 PMID:19431183 PMID:24265693 PMID:25741868 More... NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403
JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Joubert syndrome 9 ClinVar NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
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 complex subunit 1 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome 6
ClinVar Annotator: match by term: Orofaciodigital syndrome VI
ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20301500 More... NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500
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 This custom term has been created by RGD curators.
ClinVar Annotator: match by term: Meckel syndrome, type 10
OMIM
ClinVar
PMID:21763481 PMID:25741868 PMID:28492532 NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:81,189,405...81,195,356
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:9536098 PMID:17576681 PMID:18414213 PMID:20301500 PMID:21258341 More... NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903
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:9536098 PMID:17576681 PMID:22863007 PMID:25741868 PMID:26539891 More... NCBI chr19:19,111,538...19,407,371
Ensembl chr19:19,110,238...19,407,373
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    syndrome 8262
      ciliopathy 279
        Joubert syndrome 92
          JOUBERT SYNDROME 35 1
          Joubert Syndrome 12 1
          Joubert Syndrome 13 1
          Joubert Syndrome 16 1
          Joubert Syndrome 17 4
          Joubert Syndrome 18 1
          Joubert Syndrome 2 1
          Joubert Syndrome 22 1
          Joubert Syndrome 23 1
          Joubert Syndrome 25 1
          Joubert Syndrome 26 1
          Joubert Syndrome 27 1
          Joubert Syndrome 28 1
          Joubert Syndrome 36 1
          Joubert Syndrome 37 1
          Joubert Syndrome 38 1
          Joubert Syndrome 39 1
          Joubert Syndrome 40 1
          Joubert syndrome 1 56
          Joubert syndrome 10 1
          Joubert syndrome 14 4
          Joubert syndrome 15 1
          Joubert syndrome 20 1
          Joubert syndrome 21 7
          Joubert syndrome 24 2
          Joubert syndrome 29 0
          Joubert syndrome 3 2
          Joubert syndrome 30 1
          Joubert syndrome 31 1
          Joubert syndrome 32 1
          Joubert syndrome 33 1
          Joubert syndrome 4 4
          Joubert syndrome 5 3
          Joubert syndrome 6 1
          Joubert syndrome 7 3
          Joubert syndrome 8 4
          Joubert syndrome 9 5
          Joubert syndrome with orofaciodigital defect 1
          Meckel Syndrome, Type 10 1
          nephronophthisis 12 1
          nephronophthisis 14 1
Path 2
Term Annotations click to browse term
  disease 17435
    Developmental Disease 11133
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9666
        genetic disease 9072
          monogenic disease 7224
            ciliopathy 279
              Joubert syndrome 92
                JOUBERT SYNDROME 35 1
                Joubert Syndrome 12 1
                Joubert Syndrome 13 1
                Joubert Syndrome 16 1
                Joubert Syndrome 17 4
                Joubert Syndrome 18 1
                Joubert Syndrome 2 1
                Joubert Syndrome 22 1
                Joubert Syndrome 23 1
                Joubert Syndrome 25 1
                Joubert Syndrome 26 1
                Joubert Syndrome 27 1
                Joubert Syndrome 28 1
                Joubert Syndrome 36 1
                Joubert Syndrome 37 1
                Joubert Syndrome 38 1
                Joubert Syndrome 39 1
                Joubert Syndrome 40 1
                Joubert syndrome 1 56
                Joubert syndrome 10 1
                Joubert syndrome 14 4
                Joubert syndrome 15 1
                Joubert syndrome 20 1
                Joubert syndrome 21 7
                Joubert syndrome 24 2
                Joubert syndrome 29 0
                Joubert syndrome 3 2
                Joubert syndrome 30 1
                Joubert syndrome 31 1
                Joubert syndrome 32 1
                Joubert syndrome 33 1
                Joubert syndrome 4 4
                Joubert syndrome 5 3
                Joubert syndrome 6 1
                Joubert syndrome 7 3
                Joubert syndrome 8 4
                Joubert syndrome 9 5
                Joubert syndrome with orofaciodigital defect 1
                Meckel Syndrome, Type 10 1
                nephronophthisis 12 1
                nephronophthisis 14 1
paths to the root