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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 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 1:28,566,279...28,760,471
Ensembl chr 1:28,566,266...28,760,468
JBrowse link
G ARL13B ADP ribosylation factor like GTPase 13B ISO ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders ClinVar NCBI chr13:165,829,772...165,910,959
Ensembl chr13:165,828,059...165,911,011
JBrowse link
G ARMC9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532, PMID:28625504 NCBI chr15:131,928,642...132,101,348
Ensembl chr15:131,928,700...132,101,344
JBrowse link
G ATOH1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868, PMID:30311386 NCBI chr 8:125,768,232...125,770,619
Ensembl chr 8:125,769,246...125,770,307
JBrowse link
G ATP6V0A2 ATPase H+ transporting V0 subunit a2 ISO ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar Annotator: match by term: Joubert syndrome
ClinVar PMID:25741868, PMID:28492532 NCBI chr14:29,250,400...29,297,697
Ensembl chr14:29,250,404...29,297,663
JBrowse link
G B9D1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Joubert syndrome
ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar PMID:21493627, PMID:24886560, PMID:25741868, PMID:25920555, PMID:26092869, PMID:26477546, PMID:28492532 NCBI chr12:60,162,656...60,171,586
Ensembl chr12:60,162,707...60,171,961
JBrowse link
G B9D2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Joubert syndrome
ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar PMID:25741868, PMID:26092869, PMID:28492532 NCBI chr 6:49,349,704...49,358,420
Ensembl chr 6:49,349,708...49,366,012
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 9:8,393,610...8,512,843
Ensembl chr 9:8,393,611...8,512,848
JBrowse link
G C5H12orf29 chromosome 5 C12orf29 homolog 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 5:94,473,172...94,489,643
Ensembl chr 5:94,473,172...94,489,661
JBrowse link
G C5H12orf50 chromosome 5 C12orf50 homolog ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:19764032, PMID:23954617, PMID:27821535, PMID:28492532 NCBI chr 5:94,489,714...94,520,179
Ensembl chr 5:94,489,755...94,520,306
JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Joubert syndrome
ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
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 chr 8:10,779,206...10,898,189
Ensembl chr 8:10,779,332...10,898,193
JBrowse link
G CEP290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Joubert syndrome
ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
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 5:94,384,397...94,474,337
Ensembl chr 5:94,384,414...94,475,057
JBrowse link
G CEP41 centrosomal protein 41 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868 NCBI chr18:18,416,170...18,462,579
Ensembl chr18:18,416,259...18,462,575
JBrowse link
G CLUAP1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28679688 NCBI chr 3:38,716,562...38,753,743
Ensembl chr 3:38,716,403...38,753,748
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 chr16:22,381,001...22,501,052
Ensembl chr16:22,381,327...22,500,998
JBrowse link
G CYB561A3 cytochrome b561 family member A3 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar NCBI chr 2:10,142,102...10,159,160
Ensembl chr 2:10,142,170...10,161,891
JBrowse link
G EXOC8 exocyst complex component 8 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:22700954 NCBI chr14:59,192,345...59,197,550
Ensembl chr14:59,192,431...59,197,541
JBrowse link
G FAM149B1 family with sequence similarity 149 member B1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:30905400 NCBI chr14:75,992,657...76,065,822
Ensembl chr14:75,992,652...76,097,838
JBrowse link
G FTO FTO alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders ClinVar NCBI chr 6:31,177,112...31,564,674
Ensembl chr 6:31,174,569...31,564,707
JBrowse link
G IFT172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:24140113, PMID:26092869 NCBI chr 3:111,683,674...111,718,504
Ensembl chr 3:111,683,669...111,718,971
JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E ISO DNA:missense mutations, nonsense mutation:exon:multiple
ClinVar Annotator: match by term: Joubert syndrome
ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
RGD
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 RGD:12911208
G KATNIP katanin interacting protein ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:26714646 NCBI chr 3:19,150,367...19,368,267
Ensembl chr 3:19,150,370...19,368,223
JBrowse link
G KIAA0586 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 1:187,504,694...187,642,492
Ensembl chr 1:187,475,007...187,642,492
JBrowse link
G KIF7 kinesin family member 7 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:21633164, PMID:25741868 NCBI chr 7:55,200,591...55,220,237
Ensembl chr 7:55,200,593...55,220,497
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 5:94,016,992...94,110,219
Ensembl chr 5:94,017,384...94,110,216
JBrowse link
G LRRC34 leucine rich repeat containing 34 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar NCBI chr13:108,451,559...108,487,116
Ensembl chr13:108,459,714...108,487,113
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 4:51,525,044...51,570,609
Ensembl chr 4:51,525,047...51,570,425
JBrowse link
G MKS1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Joubert syndrome
ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
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 chr12:34,499,139...34,512,191
Ensembl chr12:34,499,141...34,512,187
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:10,361,403...10,415,502 JBrowse link
G PDPR pyruvate dehydrogenase phosphatase regulatory subunit ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25558065, PMID:27894351 NCBI chr 6:13,187,377...13,230,601
Ensembl chr 6:13,187,424...13,230,599
JBrowse link
G PIBF1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868, PMID:26167768 NCBI chr11:45,076,046...45,362,708
Ensembl chr11:45,076,061...45,362,891
JBrowse link
G RCOR1 REST corepressor 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:26489029
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 chr 6:31,564,937...31,660,540
Ensembl chr 6:31,564,986...31,661,194
JBrowse link
G SEC16A SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532
G TCTN1 tectonic family member 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:21725307, PMID:25741868, PMID:28492532 NCBI chr14:31,953,996...32,010,202
Ensembl chr14:31,954,000...32,010,199
JBrowse link
G TCTN2 tectonic family member 2 ISO ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar Annotator: match by term: Joubert syndrome
ClinVar PMID:21565611, PMID:22331178, PMID:24033266, PMID:25326637, PMID:25741868, PMID:26092869, PMID:28492532 NCBI chr14:29,301,848...29,333,063
Ensembl chr14:29,297,881...29,332,720
JBrowse link
G TMEM138 transmembrane protein 138 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar NCBI chr 2:10,134,866...10,143,049
Ensembl chr 2:10,131,633...10,143,038
JBrowse link
G TMEM17 transmembrane protein 17 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar NCBI chr 3:79,415,767...79,422,397
Ensembl chr 3:79,415,717...79,422,393
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
RGD
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 RGD:11067331 NCBI chr 2:10,107,598...10,122,266
Ensembl chr 2:10,115,607...10,121,811
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 chr 6:12,140,317...12,163,894
Ensembl chr 6:12,140,687...12,164,140
JBrowse link
G TMEM237 transmembrane protein 237 ISO DNA:nonsense,transition mutations:cds,splice junction:
ClinVar Annotator: match by term: Joubert syndrome
RGD
ClinVar
PMID:17603801, PMID:22152675, PMID:22981120, PMID:24033266, PMID:25741868, PMID:28492532 RGD:11561921 NCBI chr15:105,255,485...105,276,624
Ensembl chr15:105,252,479...105,276,771
JBrowse link
G TMEM67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Joubert syndrome
ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
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 4:42,878,249...42,931,106
Ensembl chr 4:42,878,254...42,931,121
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 5:94,328,452...94,384,266
Ensembl chr 5:94,276,769...94,384,142
JBrowse link
G TOGARAM1 TOG array regulator of axonemal microtubules 1 ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar NCBI chr 1:175,198,172...175,274,309
Ensembl chr 1:175,198,385...175,275,184
JBrowse link
G TTC21B tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr15:72,430,250...72,512,503
Ensembl chr15:72,430,725...72,512,491
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 chr10:5,825,591...6,662,733 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 chr 3:78,435,154...78,726,313 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: Joubert syndrome 1
ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar PMID:15322546, PMID:15467982, PMID:16453322, PMID:21623382, PMID:25616960, PMID:25741868, PMID:26092869, PMID:28492532 NCBI chr 1:28,566,279...28,760,471
Ensembl chr 1:28,566,266...28,760,468
JBrowse link
G ARL13B ADP ribosylation factor like GTPase 13B ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:25741868, PMID:28492532 NCBI chr13:165,829,772...165,910,959
Ensembl chr13:165,828,059...165,911,011
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 8:125,768,232...125,770,619
Ensembl chr 8:125,769,246...125,770,307
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 chr12:60,162,656...60,171,586
Ensembl chr12:60,162,707...60,171,961
JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
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 chr 8:10,779,206...10,898,189
Ensembl chr 8:10,779,332...10,898,193
JBrowse link
G CEP290 centrosomal protein 290 ISO 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 Annotator: match by term: Cerebellooculorenal syndrome 1
ClinVar Annotator: match by term: Familial aplasia of the vermis
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 5:94,384,397...94,474,337
Ensembl chr 5:94,384,414...94,475,057
JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar PMID:25407461, PMID:25741868, PMID:26092869, PMID:28125082, PMID:28492532, PMID:30311386 NCBI chr16:22,381,001...22,501,052
Ensembl chr16:22,381,327...22,500,998
JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E ISO OMIM
G MICALL2 MICAL like 2 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar NCBI chr 3:951,330...971,129
Ensembl chr 3:951,323...971,111
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 chr12:34,499,139...34,512,191
Ensembl chr12:34,499,141...34,512,187
JBrowse link
G NPHP1 nephrocystin 1 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:24746959, PMID:25741868, PMID:28492532 NCBI chr 3:46,316,864...46,378,279
Ensembl chr 3:46,281,570...46,377,273
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:18414213, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr  X:10,361,403...10,415,502 JBrowse link
G RPGRIP1L RPGRIP1 like ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar PMID:17558409, PMID:19430481, PMID:25741868, PMID:28492532 NCBI chr 6:31,564,937...31,660,540
Ensembl chr 6:31,564,986...31,661,194
JBrowse link
G TCTN1 tectonic family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21725307 NCBI chr14:31,953,996...32,010,202
Ensembl chr14:31,954,000...32,010,199
JBrowse link
G TMEM216 transmembrane protein 216 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: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 2:10,107,598...10,122,266
Ensembl chr 2:10,115,607...10,121,811
JBrowse link
G TMEM237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:25741868, PMID:28492532 NCBI chr15:105,255,485...105,276,624
Ensembl chr15:105,252,479...105,276,771
JBrowse link
G TMEM67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar Annotator: match by term: Familial aplasia of the 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 4:42,878,249...42,931,106
Ensembl chr 4:42,878,254...42,931,121
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 chr15:72,430,250...72,512,503
Ensembl chr15:72,430,725...72,512,491
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 OMIM NCBI chr  X:10,361,403...10,415,502 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 7:55,200,591...55,220,237
Ensembl chr 7:55,200,593...55,220,497
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 OMIM NCBI chr14:31,953,996...32,010,202
Ensembl chr14:31,954,000...32,010,199
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 chr15:105,159,814...105,250,918
Ensembl chr15:105,105,234...105,250,563
JBrowse link
G MPP4 membrane palmitoylated protein 4 ISO ClinVar Annotator: match by term: Joubert syndrome 14 ClinVar PMID:28492532 NCBI chr15:105,277,295...105,319,936
Ensembl chr15:105,276,822...105,319,030
JBrowse link
G TMEM237 transmembrane protein 237 ISO OMIM NCBI chr15:105,255,485...105,276,624
Ensembl chr15:105,252,479...105,276,771
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 OMIM NCBI chr18:18,416,170...18,462,579
Ensembl chr18:18,416,259...18,462,575
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 OMIM NCBI chr 2:10,134,866...10,143,049
Ensembl chr 2:10,131,633...10,143,038
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 OMIM NCBI chr16:22,381,001...22,501,052
Ensembl chr16:22,381,327...22,500,998
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 OMIM NCBI chr14:107,230,820...107,263,364
Ensembl chr14:107,230,934...107,263,344
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 OMIM NCBI chr 2:10,107,598...10,122,266
Ensembl chr 2:10,115,607...10,121,811
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 OMIM NCBI chr 6:12,140,317...12,163,894
Ensembl chr 6:12,140,687...12,164,140
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 4:67,465,517...67,613,611
Ensembl chr 4:67,466,014...67,639,442
JBrowse link
G COPS5 COP9 signalosome subunit 5 ISO ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar PMID:28492532 NCBI chr 4:67,740,528...67,758,153
Ensembl chr 4:67,738,939...67,758,150
JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 ISO OMIM NCBI chr 4:67,614,067...67,844,337
Ensembl chr 4:67,613,640...67,844,337
JBrowse link
G PPP1R42 protein phosphatase 1 regulatory subunit 42 ISO ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar PMID:28492532 NCBI chr 4:67,771,755...67,816,392
Ensembl chr 4:67,772,806...67,815,977
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 OMIM NCBI chr15:132,376,117...132,426,678
Ensembl chr15:132,376,123...132,426,686
JBrowse link
Joubert Syndrome 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIAA0586 KIAA0586 ISO OMIM NCBI chr 1:187,504,694...187,642,492
Ensembl chr 1:187,475,007...187,642,492
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 chr14:29,250,400...29,297,697
Ensembl chr14:29,250,404...29,297,663
JBrowse link
G TCTN2 tectonic family member 2 ISO OMIM NCBI chr14:29,301,848...29,333,063
Ensembl chr14:29,297,881...29,332,720
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 OMIM NCBI chr 6:65,274,092...65,310,735
Ensembl chr 6:65,274,486...65,310,728
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 OMIM NCBI chr 3:19,150,367...19,368,267
Ensembl chr 3:19,150,370...19,368,223
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 OMIM NCBI chr12:60,162,656...60,171,586
Ensembl chr12:60,162,707...60,171,961
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 OMIM NCBI chr12:34,499,139...34,512,191
Ensembl chr12:34,499,141...34,512,187
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 OMIM NCBI chr 1:28,566,279...28,760,471
Ensembl chr 1:28,566,266...28,760,468
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 OMIM NCBI chr15:131,928,642...132,101,348
Ensembl chr15:131,928,700...132,101,344
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 OMIM NCBI chr 2:126,840,262...126,930,117
Ensembl chr 2:126,838,294...126,930,483
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 OMIM NCBI chr14:113,500,001...113,628,064
Ensembl chr14:113,500,842...113,614,517
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 OMIM NCBI chr11:45,076,046...45,362,708
Ensembl chr11:45,076,061...45,362,891
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 OMIM NCBI chr14:113,668,375...113,699,583
Ensembl chr14:113,665,270...113,707,501
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 OMIM NCBI chr14:75,992,657...76,065,822
Ensembl chr14:75,992,652...76,097,838
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 1:28,566,279...28,760,471
Ensembl chr 1:28,566,266...28,760,468
JBrowse link
G NPHP1 nephrocystin 1 ISO OMIM NCBI chr 3:46,316,864...46,378,279
Ensembl chr 3:46,281,570...46,377,273
JBrowse link
G NPHP4 nephrocystin 4 ISO DNA:mutations:exon, intron:multiple RGD PMID:15776426 RGD:11068164 NCBI chr 6:66,815,282...66,928,245
Ensembl chr 6:66,815,281...66,928,146
JBrowse link
Joubert syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C5H12orf29 chromosome 5 C12orf29 homolog ISO ClinVar Annotator: match by term: Joubert syndrome 5 ClinVar PMID:28492532 NCBI chr 5:94,473,172...94,489,643
Ensembl chr 5:94,473,172...94,489,661
JBrowse link
G CEP290 centrosomal protein 290 ISO OMIM NCBI chr 5:94,384,397...94,474,337
Ensembl chr 5:94,384,414...94,475,057
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 OMIM NCBI chr 4:42,878,249...42,931,106
Ensembl chr 4:42,878,254...42,931,121
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 chr 7:77,813,964...77,903,973
Ensembl chr 7:77,814,708...77,903,928
JBrowse link
G RPGRIP1L RPGRIP1 like ISO OMIM NCBI chr 6:31,564,937...31,660,540
Ensembl chr 6:31,564,986...31,661,194
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 OMIM NCBI chr13:165,829,772...165,910,959
Ensembl chr13:165,828,059...165,911,011
JBrowse link
G NSUN3 NOP2/Sun RNA methyltransferase 3 ISO ClinVar Annotator: match by term: Joubert syndrome 8 ClinVar PMID:28492532 NCBI chr13:165,763,896...165,823,182
Ensembl chr13:165,762,845...165,823,175
JBrowse link
G PROS1 protein S ISO ClinVar Annotator: match by term: Joubert syndrome 8 ClinVar PMID:28492532 NCBI chr13:165,915,298...165,999,118
Ensembl chr13:165,911,366...165,999,811
JBrowse link
G STX19 syntaxin 19 ISO ClinVar Annotator: match by term: Joubert syndrome 8 ClinVar PMID:28492532 NCBI chr13:165,858,563...165,872,678 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 chr13:65,117,868...65,130,886
Ensembl chr13:65,117,776...65,134,066
JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A no_association ISO DNA:mutations: :multiple OMIM
RGD
PMID:22241855 RGD:11062645 NCBI chr 8:10,779,206...10,898,189
Ensembl chr 8:10,779,332...10,898,193
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 chr18:18,416,170...18,462,579
Ensembl chr18:18,416,259...18,462,575
JBrowse link
G SMAD6 SMAD family member 6 ISO ClinVar Annotator: match by term: Joubert syndrome 9 ClinVar NCBI chr 1:164,652,602...164,735,084
Ensembl chr 1:164,657,086...164,735,083
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 OMIM NCBI chr16:22,381,001...22,501,052
Ensembl chr16:22,381,327...22,500,998
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 OMIM NCBI chr 6:49,349,704...49,358,420
Ensembl chr 6:49,349,708...49,366,012
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 OMIM NCBI chr15:72,430,250...72,512,503
Ensembl chr15:72,430,725...72,512,491
JBrowse link
nephronophthisis 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZNF423 zinc finger protein 423 ISO OMIM NCBI chr 6:34,929,286...35,299,695
Ensembl chr 6:34,932,594...35,299,692
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12618
    syndrome 6109
      ciliopathy 212
        Joubert syndrome 69
          JOUBERT SYNDROME 35 1
          Joubert Syndrome 12 1
          Joubert Syndrome 13 1
          Joubert Syndrome 16 1
          Joubert Syndrome 17 1
          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 1 18
          Joubert syndrome 10 1
          Joubert syndrome 14 3
          Joubert syndrome 15 1
          Joubert syndrome 20 1
          Joubert syndrome 21 4
          Joubert syndrome 24 2
          Joubert syndrome 29 0
          Joubert syndrome 3 1
          Joubert syndrome 30 1
          Joubert syndrome 31 1
          Joubert syndrome 32 1
          Joubert syndrome 33 1
          Joubert syndrome 4 3
          Joubert syndrome 5 2
          Joubert syndrome 6 1
          Joubert syndrome 7 2
          Joubert syndrome 8 4
          Joubert syndrome 9 4
          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 12618
    Developmental Diseases 8917
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7779
        genetic disease 7333
          monogenic disease 5400
            ciliopathy 212
              Joubert syndrome 69
                JOUBERT SYNDROME 35 1
                Joubert Syndrome 12 1
                Joubert Syndrome 13 1
                Joubert Syndrome 16 1
                Joubert Syndrome 17 1
                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 1 18
                Joubert syndrome 10 1
                Joubert syndrome 14 3
                Joubert syndrome 15 1
                Joubert syndrome 20 1
                Joubert syndrome 21 4
                Joubert syndrome 24 2
                Joubert syndrome 29 0
                Joubert syndrome 3 1
                Joubert syndrome 30 1
                Joubert syndrome 31 1
                Joubert syndrome 32 1
                Joubert syndrome 33 1
                Joubert syndrome 4 3
                Joubert syndrome 5 2
                Joubert syndrome 6 1
                Joubert syndrome 7 2
                Joubert syndrome 8 4
                Joubert syndrome 9 4
                Joubert syndrome with orofaciodigital defect 1
                Meckel Syndrome, Type 10 1
                nephronophthisis 12 1
                nephronophthisis 14 1
paths to the root

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