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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 AC025449.2 novel transcript, antisense to CPLANE1 IAGP ClinVar Annotator: match by term: Joubert syndrome ClinVar NCBI chr 5:37,249,046...37,250,646
Ensembl chr 5:37,249,026...37,252,617
JBrowse link
G AHI1 Abelson helper integration site 1 IAGP 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 6:135,283,532...135,497,771
Ensembl chr 6:135,283,532...135,497,765
JBrowse link
G ARL13B ADP ribosylation factor like GTPase 13B IAGP ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders ClinVar NCBI chr 3:93,980,147...94,055,678
Ensembl chr 3:93,980,139...94,055,678
JBrowse link
G ARMC9 armadillo repeat containing 9 IAGP ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532, PMID:28625504 NCBI chr 2:231,198,628...231,394,991
Ensembl chr 2:231,198,546...231,376,848
Ensembl chr 2:231,198,546...231,376,848
JBrowse link
G ATOH1 atonal bHLH transcription factor 1 IAGP ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868, PMID:30311386 NCBI chr 4:93,828,753...93,830,964
Ensembl chr 4:93,828,753...93,830,966
Ensembl chr 4:93,828,753...93,830,966
JBrowse link
G ATP6V0A2 ATPase H+ transporting V0 subunit a2 IAGP ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar Annotator: match by term: Joubert syndrome
ClinVar PMID:25741868, PMID:28492532 NCBI chr12:123,712,353...123,761,755
Ensembl chr12:123,712,353...123,761,755
JBrowse link
G B9D1 B9 domain containing 1 IAGP 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 chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193
JBrowse link
G B9D2 B9 domain containing 2 IAGP 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 chr19:41,354,417...41,364,534
Ensembl chr19:41,354,417...41,364,165
JBrowse link
G C12orf29 chromosome 12 open reading frame 29 IAGP ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar Annotator: match by term: Joubert syndrome
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 chr12:88,035,536...88,050,160
Ensembl chr12:88,033,846...88,050,160
JBrowse link
G C12orf50 chromosome 12 open reading frame 50 IAGP ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:19764032, PMID:23954617, PMID:27821535, PMID:28492532 NCBI chr12:87,980,035...88,030,212
Ensembl chr12:87,980,035...88,034,037
JBrowse link
G C2CD3 C2 domain containing 3 centriole elongation regulator IAGP ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:24997988, PMID:25741868, PMID:26092869 NCBI chr11:74,012,578...74,171,210
Ensembl chr11:74,012,714...74,171,210
JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP 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 chr 4:15,468,660...15,601,557
Ensembl chr 4:15,469,865...15,601,552
Ensembl chr 4:15,469,865...15,601,552
JBrowse link
G CEP290 centrosomal protein 290 IAGP 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 chr12:88,049,013...88,142,216
Ensembl chr12:88,049,016...88,142,099
Ensembl chr12:88,049,016...88,142,099
JBrowse link
G CEP41 centrosomal protein 41 IAGP ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868 NCBI chr 7:130,393,771...130,441,057
Ensembl chr 7:130,393,771...130,442,433
JBrowse link
G CLUAP1 clusterin associated protein 1 IAGP ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28679688 NCBI chr16:3,500,978...3,539,048
Ensembl chr16:3,500,976...3,539,048
JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector 1 IAGP 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 5:37,063,928...37,249,499
Ensembl chr 5:37,106,228...37,249,421
Ensembl chr 5:37,106,228...37,249,421
JBrowse link
G CYB561A3 cytochrome b561 family member A3 IAGP ClinVar Annotator: match by term: Joubert syndrome ClinVar NCBI chr11:61,348,745...61,362,283
Ensembl chr11:61,348,745...61,362,299
Ensembl chr11:61,348,745...61,362,299
JBrowse link
G EXOC8 exocyst complex component 8 IAGP ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:22700954 NCBI chr 1:231,332,753...231,337,852
Ensembl chr 1:231,332,753...231,337,852
JBrowse link
G FAM149B1 family with sequence similarity 149 member B1 IAGP ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:30905400 NCBI chr10:73,168,090...73,244,504
Ensembl chr10:73,168,119...73,244,504
JBrowse link
G FTO FTO alpha-ketoglutarate dependent dioxygenase IAGP ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders ClinVar NCBI chr16:53,703,963...54,121,941
Ensembl chr16:53,701,692...54,158,512
JBrowse link
G IFT172 intraflagellar transport 172 IAGP ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:24140113, PMID:26092869 NCBI chr 2:27,444,373...27,489,819
Ensembl chr 2:27,444,377...27,489,805
Ensembl chr 2:27,444,377...27,489,805
JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP DNA:missense mutations, nonsense mutation:exon:multiple
ClinVar Annotator: match by term: Joubert syndrome
ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
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 9:136,428,619...136,439,861
Ensembl chr 9:136,428,619...136,439,845
JBrowse link
G KATNIP katanin interacting protein IAGP ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:26714646 NCBI chr16:27,550,128...27,780,371
Ensembl chr16:27,550,133...27,780,369
JBrowse link
G KIAA0586 KIAA0586 IAGP 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 chr14:58,427,400...58,551,297
Ensembl chr14:58,427,385...58,551,297
JBrowse link
G KIF7 kinesin family member 7 IAGP ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:21633164, PMID:25741868 NCBI chr15:89,627,977...89,663,086
Ensembl chr15:89,608,789...89,655,467
JBrowse link
G KITLG KIT ligand IAGP ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:19764032, PMID:23954617, PMID:27821535, PMID:28492532 NCBI chr12:88,492,793...88,580,471
Ensembl chr12:88,492,793...88,580,851
JBrowse link
G LRRC34 leucine rich repeat containing 34 IAGP ClinVar Annotator: match by term: Joubert syndrome ClinVar NCBI chr 3:169,793,003...169,812,904
Ensembl chr 3:169,793,003...169,812,986
Ensembl chr 3:169,793,003...169,812,986
JBrowse link
G LRRCC1 leucine rich repeat and coiled-coil centrosomal protein 1 IAGP ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders ClinVar NCBI chr 8:85,107,149...85,146,080
Ensembl chr 8:85,107,215...85,146,080
JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP 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 chr17:58,205,436...58,219,605
Ensembl chr17:58,205,441...58,219,605
Ensembl chr17:58,205,441...58,219,605
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP 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:13,734,726...13,773,978
Ensembl chr  X:13,734,745...13,769,357
JBrowse link
G PDPR pyruvate dehydrogenase phosphatase regulatory subunit IAGP ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25558065, PMID:27894351 NCBI chr16:70,113,626...70,163,631
Ensembl chr16:70,113,626...70,162,537
Ensembl chr16:70,113,626...70,162,537
JBrowse link
G PIBF1 progesterone immunomodulatory binding factor 1 IAGP ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868, PMID:26167768 NCBI chr13:72,782,133...73,016,461
Ensembl chr13:72,782,133...73,016,461
JBrowse link
G RCOR1 REST corepressor 1 IAGP ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:26489029 NCBI chr14:102,592,593...102,730,572
Ensembl chr14:102,592,649...102,730,561
JBrowse link
G RPGRIP1L RPGRIP1 like IAGP ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar Annotator: match by term: Joubert syndrome
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 chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938
JBrowse link
G SEC16A SEC16 homolog A, endoplasmic reticulum export factor IAGP ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr 9:136,440,096...136,484,552
Ensembl chr 9:136,440,096...136,483,759
JBrowse link
G TCTN1 tectonic family member 1 IAGP ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:21725307, PMID:25741868, PMID:28492532 NCBI chr12:110,614,068...110,649,430
Ensembl chr12:110,614,027...110,649,430
JBrowse link
G TCTN2 tectonic family member 2 IAGP 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 chr12:123,671,108...123,708,405
Ensembl chr12:123,671,113...123,708,399
JBrowse link
G TMEM138 transmembrane protein 138 IAGP ClinVar Annotator: match by term: Joubert syndrome ClinVar NCBI chr11:61,362,361...61,378,224
Ensembl chr11:61,362,344...61,369,509
JBrowse link
G TMEM17 transmembrane protein 17 IAGP ClinVar Annotator: match by term: Joubert syndrome ClinVar NCBI chr 2:62,452,778...62,511,894
Ensembl chr 2:62,500,218...62,511,894
JBrowse link
G TMEM216 transmembrane protein 216 IAGP 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 chr11:61,391,982...61,398,863
Ensembl chr11:61,392,360...61,398,863
JBrowse link
G TMEM231 transmembrane protein 231 IAGP ClinVar Annotator: match by term: Joubert Syndrome and Related Disorders
ClinVar Annotator: match by term: Joubert syndrome
ClinVar PMID:25741868 NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,268
JBrowse link
G TMEM237 transmembrane protein 237 IAGP 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 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570
JBrowse link
G TMEM67 transmembrane protein 67 IAGP 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 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
JBrowse link
G TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 IAGP ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:19764032, PMID:23954617, PMID:27821535, PMID:28492532 NCBI chr12:88,142,307...88,199,887
Ensembl chr12:88,142,296...88,199,887
JBrowse link
G TOGARAM1 TOG array regulator of axonemal microtubules 1 IAGP ClinVar Annotator: match by term: Joubert syndrome ClinVar NCBI chr14:44,962,190...45,074,431
Ensembl chr14:44,962,190...45,074,431
JBrowse link
G TTC21B tetratricopeptide repeat domain 21B IAGP ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr 2:165,873,362...165,953,781
Ensembl chr 2:165,857,475...165,953,816
JBrowse link
G USH2A usherin IAGP ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16963483, PMID:24033266, PMID:25741868, PMID:28041643, PMID:28492532, PMID:29767709, PMID:30245029 NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
JBrowse link
G WDPCP WD repeat containing planar cell polarity effector IAGP ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:27158779, PMID:28492532 NCBI chr 2:63,119,559...63,588,733
Ensembl chr 2:63,119,559...63,827,843
JBrowse link
G ZIC1 Zic family member 1 ISS MouseDO NCBI chr 3:147,409,365...147,416,719
Ensembl chr 3:147,393,422...147,510,293
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 IAGP 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 6:135,283,532...135,497,771
Ensembl chr 6:135,283,532...135,497,765
JBrowse link
G ARL13B ADP ribosylation factor like GTPase 13B IAGP ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:93,980,147...94,055,678
Ensembl chr 3:93,980,139...94,055,678
JBrowse link
G ATOH1 atonal bHLH transcription factor 1 IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:25741868, PMID:30311386 NCBI chr 4:93,828,753...93,830,964
Ensembl chr 4:93,828,753...93,830,966
Ensembl chr 4:93,828,753...93,830,966
JBrowse link
G B9D1 B9 domain containing 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:24886560, PMID:26092869 NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193
JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP 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: Familial aplasia of the vermis
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 4:15,468,660...15,601,557
Ensembl chr 4:15,469,865...15,601,552
Ensembl chr 4:15,469,865...15,601,552
JBrowse link
G CEP290 centrosomal protein 290 IAGP 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 chr12:88,049,013...88,142,216
Ensembl chr12:88,049,016...88,142,099
Ensembl chr12:88,049,016...88,142,099
JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector 1 IAGP 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 chr 5:37,063,928...37,249,499
Ensembl chr 5:37,106,228...37,249,421
Ensembl chr 5:37,106,228...37,249,421
JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP
EXP
ClinVar Annotator: match by term: Joubert syndrome 1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
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 9:136,428,619...136,439,861
Ensembl chr 9:136,428,619...136,439,845
JBrowse link
G MICALL2 MICAL like 2 IAGP ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar NCBI chr 7:1,433,639...1,459,497
Ensembl chr 7:1,428,465...1,459,470
JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:17185389, PMID:17397051, PMID:23351400, PMID:28492532 NCBI chr17:58,205,436...58,219,605
Ensembl chr17:58,205,441...58,219,605
Ensembl chr17:58,205,441...58,219,605
JBrowse link
G NPHP1 nephrocystin 1 IAGP ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:24746959, PMID:25741868, PMID:28492532 NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:18414213, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr  X:13,734,726...13,773,978
Ensembl chr  X:13,734,745...13,769,357
JBrowse link
G RPGRIP1L RPGRIP1 like IAGP 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 chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938
JBrowse link
G TCTN1 tectonic family member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21725307 NCBI chr12:110,614,068...110,649,430
Ensembl chr12:110,614,027...110,649,430
JBrowse link
G TMEM216 transmembrane protein 216 IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: Familial aplasia of the 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 chr11:61,391,982...61,398,863
Ensembl chr11:61,392,360...61,398,863
JBrowse link
G TMEM237 transmembrane protein 237 IAGP ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:25741868, PMID:28492532 NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570
JBrowse link
G TMEM67 transmembrane protein 67 IAGP 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: 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 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
JBrowse link
G TTC21B tetratricopeptide repeat domain 21B IAGP ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:21258341, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 2:165,873,362...165,953,781
Ensembl chr 2:165,857,475...165,953,816
JBrowse link
G TTC21B-AS1 TTC21B antisense RNA 1 IAGP ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:21258341, PMID:25741868, PMID:28492532 NCBI chr 2:165,933,857...165,948,321
Ensembl chr 2:165,933,857...165,949,891
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 IAGP DNA:deletions:exon:c.2841_2847del, c.2767del (human)
ClinVar Annotator: match by term: Joubert syndrome 10
DNA:duplication:exon:2122-2125dup (human)
ClinVar
OMIM
PMID:18546297, PMID:19800048, PMID:22353940, PMID:24884629, PMID:25741868, PMID:26092869, PMID:28492532, PMID:19800048, PMID:16783569 RGD:11535963, RGD:11535965 NCBI chr  X:13,734,726...13,773,978
Ensembl chr  X:13,734,745...13,769,357
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 IAGP ClinVar Annotator: match by term: Joubert syndrome 12 ClinVar PMID:21633164, PMID:22246503 NCBI chr15:89,627,977...89,663,086
Ensembl chr15:89,608,789...89,655,467
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 IAGP 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 chr12:110,614,068...110,649,430
Ensembl chr12:110,614,027...110,649,430
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 IAGP ClinVar Annotator: match by term: Joubert syndrome 14 ClinVar PMID:28492532 NCBI chr 2:201,487,421...201,619,182
Ensembl chr 2:201,487,421...201,619,178
JBrowse link
G MPP4 membrane palmitoylated protein 4 IAGP ClinVar Annotator: match by term: Joubert syndrome 14 ClinVar PMID:28492532 NCBI chr 2:201,644,874...201,700,263
Ensembl chr 2:201,644,870...201,698,694
JBrowse link
G TMEM237 transmembrane protein 237 IAGP ClinVar Annotator: match by term: Joubert syndrome 14 ClinVar
OMIM
PMID:14760273, PMID:17603801, PMID:22152675, PMID:22981120, PMID:25741868, PMID:26092869, PMID:26673778, PMID:28492532 NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570
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 IAGP ClinVar Annotator: match by term: Joubert syndrome 15 ClinVar
OMIM
PMID:20301500, PMID:21438139, PMID:22246503, PMID:25741868, PMID:28492532, PMID:29588463, PMID:30664616 NCBI chr 7:130,393,771...130,441,057
Ensembl chr 7:130,393,771...130,442,433
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 IAGP ClinVar Annotator: match by term: Joubert syndrome 16 ClinVar
OMIM
PMID:22282472, PMID:25741868, PMID:26092869, PMID:28492532 NCBI chr11:61,362,361...61,378,224
Ensembl chr11:61,362,344...61,369,509
JBrowse link
Joubert Syndrome 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AC025449.2 novel transcript, antisense to CPLANE1 IAGP ClinVar Annotator: match by term: Joubert syndrome 17 ClinVar NCBI chr 5:37,249,046...37,250,646
Ensembl chr 5:37,249,026...37,252,617
JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector 1 ISO
IAGP
DNA:missense mutation: :p.S235P (mouse)
ClinVar Annotator: match by term: Joubert syndrome 17
ClinVar
OMIM
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 5:37,063,928...37,249,499
Ensembl chr 5:37,106,228...37,249,421
Ensembl chr 5:37,106,228...37,249,421
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 IAGP ClinVar Annotator: match by term: Joubert syndrome 18 ClinVar
OMIM
PMID:22883145, PMID:26092869, PMID:28492532 NCBI chr10:95,663,401...95,693,954
Ensembl chr10:95,663,396...95,694,143
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 IAGP DNA:misense mutation:exon:c.35G>T(p.R12L)(human)
ClinVar Annotator: match by term: Joubert syndrome 2
ClinVar Annotator: match by term: Cerebellooculorenal syndrome 2
ClinVar
OMIM
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 chr11:61,391,982...61,398,863
Ensembl chr11:61,392,360...61,398,863
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 IAGP ClinVar Annotator: match by term: Joubert syndrome 20 ClinVar
OMIM
PMID:23012439, PMID:25741868, PMID:25869670, PMID:27449316, PMID:28492532 NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,268
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 IAGP ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar PMID:24360807, PMID:24360808, PMID:25741868, PMID:26092869, PMID:28492532 NCBI chr 8:67,174,298...67,343,824
Ensembl chr 8:67,173,511...67,343,781
JBrowse link
G COPS5 COP9 signalosome subunit 5 IAGP ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar PMID:28492532 NCBI chr 8:67,043,079...67,062,133
Ensembl chr 8:67,043,079...67,083,783
JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar
OMIM
PMID:24033266, PMID:24360803, PMID:24360807, PMID:24360808, PMID:25558065, PMID:25741868, PMID:26092869, PMID:27894351, PMID:28492532, PMID:29706646, PMID:30311386 NCBI chr 8:67,062,417...67,198,003
Ensembl chr 8:67,062,417...67,196,778
Ensembl chr 8:67,062,417...67,196,778
JBrowse link
G PPP1R42 protein phosphatase 1 regulatory subunit 42 IAGP ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar PMID:28492532 NCBI chr 8:66,964,103...67,028,554
Ensembl chr 8:66,964,099...67,056,604
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 IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar
OMIM
PMID:24166846, PMID:25741868, PMID:28492532, PMID:30423442 NCBI chr 2:231,732,428...231,781,282
Ensembl chr 2:231,732,433...231,786,272
JBrowse link
Joubert Syndrome 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIAA0586 KIAA0586 IAGP ClinVar Annotator: match by term: Joubert syndrome 23 ClinVar
OMIM
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 chr14:58,427,400...58,551,297
Ensembl chr14:58,427,385...58,551,297
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 IAGP ClinVar Annotator: match by term: Joubert syndrome 24 ClinVar PMID:25741868, PMID:28492532 NCBI chr12:123,712,353...123,761,755
Ensembl chr12:123,712,353...123,761,755
JBrowse link
G TCTN2 tectonic family member 2 IAGP ClinVar Annotator: match by term: Joubert syndrome 24 ClinVar
OMIM
PMID:21565611, PMID:22331178, PMID:25118024, PMID:25326637, PMID:25741868, PMID:26092869, PMID:28492532 NCBI chr12:123,671,108...123,708,405
Ensembl chr12:123,671,113...123,708,399
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 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar
OMIM
PMID:25741868, PMID:26477546, PMID:28492532 NCBI chr 1:3,812,086...3,857,233
Ensembl chr 1:3,812,086...3,857,396
Ensembl chr 1:3,812,086...3,857,396
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 IAGP ClinVar Annotator: match by term: Joubert syndrome 26 ClinVar
OMIM
PMID:26714646, PMID:27245168 NCBI chr16:27,550,128...27,780,371
Ensembl chr16:27,550,133...27,780,369
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 IAGP ClinVar Annotator: match by term: Joubert syndrome 27 ClinVar
OMIM
PMID:24886560, PMID:26092869 NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193
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 IAGP 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 chr17:58,205,436...58,219,605
Ensembl chr17:58,205,441...58,219,605
Ensembl chr17:58,205,441...58,219,605
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 IAGP
ISO
DNA:mutations:exon, intron: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)
DNA:missense mutation, nonsense mutations:exon:multiple
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 6:135,283,532...135,497,771
Ensembl chr 6:135,283,532...135,497,765
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 IAGP ClinVar Annotator: match by term: JOUBERT SYNDROME 30
ClinVar Annotator: match by term: ARMC9-related Joubert syndrome
ClinVar
OMIM
PMID:25741868, PMID:28492532, PMID:28625504, PMID:29159890 NCBI chr 2:231,198,628...231,394,991
Ensembl chr 2:231,198,546...231,376,848
Ensembl chr 2:231,198,546...231,376,848
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 IAGP ClinVar Annotator: match by term: JOUBERT SYNDROME 31 ClinVar
OMIM
PMID:27208211, PMID:28492532 NCBI chr 5:123,344,890...123,423,842
Ensembl chr 5:123,344,890...123,423,592
Ensembl chr 5:123,344,890...123,423,592
Ensembl chr 5:123,344,890...123,423,592
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 IAGP ClinVar Annotator: match by term: JOUBERT SYNDROME 32 ClinVar
OMIM
PMID:25741868, PMID:28492532, PMID:28965847 NCBI chr10:102,502,801...102,633,535
Ensembl chr10:102,503,987...102,633,535
Ensembl chr10:102,503,987...102,633,535
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 IAGP ClinVar Annotator: match by term: JOUBERT SYNDROME 33 ClinVar
OMIM
PMID:25741868, PMID:26167768 NCBI chr13:72,782,133...73,016,461
Ensembl chr13:72,782,133...73,016,461
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 IAGP ClinVar Annotator: match by term: JOUBERT SYNDROME 35 ClinVar
OMIM
PMID:30269812 NCBI chr10:102,673,731...102,714,397
Ensembl chr10:102,673,731...102,714,397
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 IAGP ClinVar Annotator: match by term: JOUBERT SYNDROME 36 OMIM
ClinVar
PMID:30905400 NCBI chr10:73,168,090...73,244,504
Ensembl chr10:73,168,119...73,244,504
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 IGI DNA:missense mutation:cds:p.R830W (c.2488C>T) (human) RGD PMID:17409309 RGD:7246903 NCBI chr 6:135,283,532...135,497,771
Ensembl chr 6:135,283,532...135,497,765
JBrowse link
G NPHP1 nephrocystin 1 IAGP associated with Kidney Diseases, Cystic;DNA:mutation
ClinVar Annotator: match by term: Joubert syndrome 4
ClinVar
OMIM
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 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066
JBrowse link
G NPHP4 nephrocystin 4 IAGP DNA:mutations:exon, intron:multiple RGD PMID:15776426 RGD:11068164 NCBI chr 1:5,862,810...5,992,425
Ensembl chr 1:5,862,811...5,992,473
JBrowse link
Joubert syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C12orf29 chromosome 12 open reading frame 29 IAGP ClinVar Annotator: match by term: Joubert syndrome 5 ClinVar PMID:28492532 NCBI chr12:88,035,536...88,050,160
Ensembl chr12:88,033,846...88,050,160
JBrowse link
G CEP290 centrosomal protein 290 IAGP DNA:deletions, insertion: :multiple
ClinVar Annotator: match by term: Joubert syndrome 5
DNA:deletions, nonsense mutations, splice-site mutations:exon, intron:multiple
ClinVar
OMIM
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:17409309, PMID:17617513 RGD:7246903, RGD:11537352 NCBI chr12:88,049,013...88,142,216
Ensembl chr12:88,049,016...88,142,099
Ensembl chr12:88,049,016...88,142,099
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 IAGP DNA:missense mutations, splice-site mutations: :multiple
ClinVar Annotator: match by term: Joubert syndrome 6
ClinVar
OMIM
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 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
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 IAGP ClinVar Annotator: match by term: Joubert syndrome 7 ClinVar NCBI chr14:21,280,083...21,351,316
Ensembl chr14:21,287,939...21,351,301
JBrowse link
G RPGRIP1L RPGRIP1 like IAGP DNA:missense mutations, splice-site mutation:exon, intron:multiple
ClinVar Annotator: match by term: Joubert syndrome 7
ClinVar
OMIM
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 chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938
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 IAGP DNA:missense mutations, nonsense mutation:p.R79Q, p.R200C, p.W82X (human)
ClinVar Annotator: match by term: Joubert syndrome 8
ClinVar
OMIM
PMID:18674751, PMID:25138100, PMID:25741868, PMID:26092869, PMID:28492532, PMID:18674751 RGD:11553937 NCBI chr 3:93,980,147...94,055,678
Ensembl chr 3:93,980,139...94,055,678
JBrowse link
G DHFR2 dihydrofolate reductase 2 IAGP ClinVar Annotator: match by term: Joubert syndrome 8 ClinVar PMID:28492532 NCBI chr 3:94,057,922...94,063,389
Ensembl chr 3:94,047,836...94,063,389
JBrowse link
G NSUN3 NOP2/Sun RNA methyltransferase 3 IAGP ClinVar Annotator: match by term: Joubert syndrome 8 ClinVar PMID:28492532 NCBI chr 3:94,063,061...94,131,832
Ensembl chr 3:94,062,980...94,131,832
JBrowse link
G PROS1 protein S IAGP ClinVar Annotator: match by term: Joubert syndrome 8 ClinVar PMID:28492532 NCBI chr 3:93,873,051...93,973,896
Ensembl chr 3:93,873,051...93,980,003
Ensembl chr 3:93,873,051...93,980,003
JBrowse link
G STX19 syntaxin 19 IAGP ClinVar Annotator: match by term: Joubert syndrome 8 ClinVar PMID:28492532 NCBI chr 3:94,014,365...94,029,281
Ensembl chr 3:94,014,365...94,028,597
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 IAGP ClinVar Annotator: match by term: Joubert syndrome 9 ClinVar NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808
Ensembl chr 3:8,733,802...8,841,808
JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A no_association IAGP DNA:mutations: :multiple
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)
ClinVar
OMIM
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:22241855, PMID:22241855, PMID:19068953 RGD:11062645, RGD:11062645, RGD:11535976 NCBI chr 4:15,468,660...15,601,557
Ensembl chr 4:15,469,865...15,601,552
Ensembl chr 4:15,469,865...15,601,552
JBrowse link
G CEP41 centrosomal protein 41 IAGP ClinVar Annotator: match by term: Joubert syndrome 9/15, digenic ClinVar PMID:20301500, PMID:22246503, PMID:28492532 NCBI chr 7:130,393,771...130,441,057
Ensembl chr 7:130,393,771...130,442,433
JBrowse link
G SMAD6 SMAD family member 6 IAGP ClinVar Annotator: match by term: Joubert syndrome 9 ClinVar NCBI chr15:66,702,110...66,782,849
Ensembl chr15:66,702,236...66,782,849
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 IAGP ClinVar Annotator: match by term: Orofaciodigital syndrome 6
ClinVar Annotator: match by term: Orofaciodigital syndrome VI
ClinVar Annotator: match by term: Varadi-Papp syndrome
ClinVar Annotator: match by term: VARADI SYNDROME
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 5:37,063,928...37,249,499
Ensembl chr 5:37,106,228...37,249,421
Ensembl chr 5:37,106,228...37,249,421
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 IAGP ClinVar Annotator: match by term: Meckel syndrome, type 10 ClinVar
OMIM
PMID:21763481, PMID:25741868, PMID:28492532 NCBI chr19:41,354,417...41,364,534
Ensembl chr19:41,354,417...41,364,165
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 IAGP ClinVar Annotator: match by term: Nephronophthisis 12 ClinVar
OMIM
PMID:18414213, PMID:21258341, PMID:22773737, PMID:24033266, PMID:24876116, PMID:25741868, PMID:26940125, PMID:28492532, PMID:29068549 NCBI chr 2:165,873,362...165,953,781
Ensembl chr 2:165,857,475...165,953,816
JBrowse link
G TTC21B-AS1 TTC21B antisense RNA 1 IAGP ClinVar Annotator: match by term: Nephronophthisis 12 ClinVar PMID:18414213, PMID:21258341, PMID:24876116, PMID:25741868, PMID:26940125, PMID:28492532 NCBI chr 2:165,933,857...165,948,321
Ensembl chr 2:165,933,857...165,949,891
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 IAGP ClinVar Annotator: match by term: Nephronophthisis 14
ClinVar Annotator: match by term: Joubert syndrome 19
ClinVar
OMIM
PMID:22863007, PMID:25741868, PMID:26539891, PMID:28492532 NCBI chr16:49,487,524...49,857,919
Ensembl chr16:49,487,524...49,857,919
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18836
    syndrome 7867
      ciliopathy 255
        Joubert syndrome 73
          JOUBERT SYNDROME 35 1
          Joubert Syndrome 12 1
          Joubert Syndrome 13 1
          Joubert Syndrome 16 1
          Joubert Syndrome 17 2
          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 19
          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 5
          Joubert syndrome 9 4
          Joubert syndrome with orofaciodigital defect 1
          Meckel Syndrome, Type 10 1
          nephronophthisis 12 2
          nephronophthisis 14 1
Path 2
Term Annotations click to browse term
  disease 18836
    Developmental Diseases 12131
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9981
        genetic disease 9460
          monogenic disease 6898
            ciliopathy 255
              Joubert syndrome 73
                JOUBERT SYNDROME 35 1
                Joubert Syndrome 12 1
                Joubert Syndrome 13 1
                Joubert Syndrome 16 1
                Joubert Syndrome 17 2
                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 19
                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 5
                Joubert syndrome 9 4
                Joubert syndrome with orofaciodigital defect 1
                Meckel Syndrome, Type 10 1
                nephronophthisis 12 2
                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.