Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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;   NCI:C74996;   OMIM:PS213300;   ORDO:475


show annotations for term's descendants           Sort by:
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 IAGP ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:15322546 PMID:16155189 PMID:16199547 PMID:16453322 PMID:17377524 More... NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434 		JBrowse link
G ARL13B ADP ribosylation factor like GTPase 13B IAGP ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:18674751 PMID:23150559 PMID:23153492 PMID:25741868 PMID:26092869 More... NCBI chr 3:93,980,155...94,055,678
Ensembl chr 3:93,980,139...94,055,678 		JBrowse link
G B9D1 B9 domain containing 1 IAGP ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:9536098 PMID:17576681 PMID:24886560 PMID:25741868 PMID:26092869 More... 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 and related disorders ClinVar PMID:21763481 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28771248 More... NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165 		JBrowse link
G C2CD3 C2 domain containing 3 centriole elongation regulator IAGP ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:24997988 PMID:26092869 NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP ClinVar Annotator: match by term: Joubert syndrome
ClinVar Annotator: match by term: Joubert syndrome and related disorders		 ClinVar PMID:3631907 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552 		JBrowse link
G CEP104 centrosomal protein 104 IAGP ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:26477546 PMID:28492532 PMID:35372954 NCBI chr 1:3,812,086...3,857,211
Ensembl chr 1:3,812,086...3,857,396 		JBrowse link
G CEP290 centrosomal protein 290 IAGP ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 IAGP ClinVar Annotator: match by term: Joubert syndrome
ClinVar Annotator: match by term: Joubert syndrome and related disorders
ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders		 ClinVar PMID:10488899 PMID:20301500 PMID:21679365 PMID:22236771 PMID:22425360 More... NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376 		JBrowse link
G FTO FTO alpha-ketoglutarate dependent dioxygenase IAGP ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:28492532 NCBI chr16:53,703,963...54,121,941
Ensembl chr16:53,701,692...54,158,512 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP DNA:missense mutations, nonsense mutation:exon:multiple
ClinVar Annotator: match by term: Joubert syndrome and related disorders		 ClinVar
RGD		 PMID:15786477 PMID:19668216 PMID:23034536 PMID:23386033 PMID:25741868 More... RGD:12911208 NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845 		JBrowse link
G KIAA0586 KIAA0586 IAGP ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:20301500 PMID:24033266 PMID:25741868 PMID:26026149 PMID:26096313 More... NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297 		JBrowse link
G KIF14 kinesin family member 14 IAGP ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:16199547 PMID:23308235 PMID:25741868 PMID:28492532 PMID:29343805 More... NCBI chr 1:200,551,497...200,620,751
Ensembl chr 1:200,551,497...200,620,751 		JBrowse link
G LOC126805586 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:3745882-3747081 IAGP ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar NCBI chr 1:3,829,318...3,830,517 JBrowse link
G LOC126863212 CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:13752241-13753440 IAGP ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:13,734,122...13,735,661 JBrowse link
G LOC129390514 MPRA-validated peak1864 silencer IAGP ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29974258 NCBI chr12:88,062,639...88,062,839 JBrowse link
G LOC129937586 ATAC-STARR-seq lymphoblastoid silent region 14743 IAGP ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar NCBI chr 3:132,722,066...132,722,315 JBrowse link
G LOC130004408 ATAC-STARR-seq lymphoblastoid active region 3801 IAGP ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:2692869 PMID:16199547 PMID:22883145 PMID:25118024 PMID:25741868 More... NCBI chr10:95,693,632...95,693,911 JBrowse link
G LOC130061271 ATAC-STARR-seq lymphoblastoid active region 12461 IAGP ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr17:58,219,083...58,219,362 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 PMID:25741868 NCBI chr 8:85,107,238...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 PMID:9536098 PMID:16415886 PMID:17185389 PMID:17377820 PMID:17397051 More... NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605 		JBrowse link
G NPHP1 nephrocystin 1 IAGP ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:16199547 PMID:23559409 PMID:25741868 PMID:28002029 PMID:28492532 More... NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066 		JBrowse link
G NPHP3 nephrocystin 3 IAGP ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:18371931 PMID:19303681 PMID:23559409 PMID:25741868 PMID:26184788 More... NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432 		JBrowse link
G NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:18371931 PMID:19303681 PMID:23559409 PMID:25741868 PMID:26184788 More... NCBI chr 3:132,558,138...132,722,459
Ensembl chr 3:132,558,142...132,722,459 		JBrowse link
G NPHP3-AS1 NPHP3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar NCBI chr 3:132,721,750...132,874,211
Ensembl chr 3:132,721,750...132,874,223 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16783569 PMID:18546297 PMID:25741868 PMID:26467025 PMID:26477546 More... NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955 		JBrowse link
G RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 IAGP ClinVar Annotator: match by term: Joubert syndrome ClinVar PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 More... NCBI chr12:88,035,536...88,050,160
Ensembl chr12:88,033,846...88,050,160 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP ClinVar Annotator: match by term: Joubert syndrome
ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders		 ClinVar PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 More... NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		JBrowse link
G TCTN1 tectonic family member 1 IAGP ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:16199547 PMID:21725307 PMID:22693042 PMID:25741868 PMID:27894351 More... NCBI chr12:110,614,129...110,649,430
Ensembl chr12:110,614,027...110,663,431 		JBrowse link
G TCTN2 tectonic family member 2 IAGP ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:16199547 PMID:21462283 PMID:21565611 PMID:23169490 PMID:25118024 More... NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399 		JBrowse link
G TCTN3 tectonic family member 3 IAGP ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:2692869 PMID:16199547 PMID:22883145 PMID:25118024 PMID:25741868 More... NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
G TMEM138 transmembrane protein 138 IAGP ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:9536098 PMID:17576681 PMID:22282472 PMID:27081510 PMID:28102635 More... NCBI chr11:61,362,374...61,376,870
Ensembl chr11:61,361,964...61,377,890 		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
RGD		 PMID:20036350 PMID:20301500 PMID:20512146 PMID:22282472 PMID:23351400 More... RGD:11067331 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866 		JBrowse link
G TMEM231 transmembrane protein 231 IAGP ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:23012439 PMID:23169490 More... NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289 		JBrowse link
G TMEM237 transmembrane protein 237 IAGP DNA:nonsense,transition mutations:cds,splice junction:
ClinVar Annotator: match by term: Joubert syndrome and related disorders		 ClinVar
RGD		 PMID:16199547 PMID:17603801 PMID:22152675 PMID:22981120 PMID:25741868 More... 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:9536098 PMID:16199547 PMID:16541367 More... NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		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 ABCA2 ATP binding cassette subfamily A member 2 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:137,007,234...137,028,922
Ensembl chr 9:137,007,234...137,028,915 		JBrowse link
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:136,673,143...136,687,457
Ensembl chr 9:136,673,143...136,687,457 		JBrowse link
G AHI1 Abelson helper integration site 1 IAGP ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome		 ClinVar PMID:9536098 PMID:15322546 PMID:16155189 PMID:16199547 PMID:16453322 More... NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434 		JBrowse link
G AJM1 apical junction component 1 homolog IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:136,842,478...136,848,801
Ensembl chr 9:136,842,478...136,848,801 		JBrowse link
G AKAP1 A-kinase anchoring protein 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:57,085,246...57,121,344
Ensembl chr17:57,085,092...57,121,346 		JBrowse link
G AL590627.1 forkhead box H1 (FOXH1) pseudogene IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:137,784,073...137,788,406
Ensembl chr 9:137,776,539...137,789,235 		JBrowse link
G ALDH3A2 aldehyde dehydrogenase 3 family member A2 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:19,648,136...19,677,596
Ensembl chr17:19,648,136...19,685,760 		JBrowse link
G ALKBH5 alkB homolog 5, RNA demethylase IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:18,183,828...18,209,954
Ensembl chr17:18,183,078...18,209,954 		JBrowse link
G ANAPC2 anaphase promoting complex subunit 2 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:137,174,784...137,188,560
Ensembl chr 9:137,174,784...137,188,560 		JBrowse link
G APPBP2 amyloid beta precursor protein binding protein 2 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:60,443,158...60,526,242
Ensembl chr17:60,443,158...60,526,242 		JBrowse link
G ARL13B ADP ribosylation factor like GTPase 13B IAGP ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1		 ClinVar PMID:18674751 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:93,980,155...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: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:28492532 PMID:28625504 PMID:31474318 NCBI chr 2:231,198,631...231,376,848
Ensembl chr 2:231,198,546...231,376,848 		JBrowse link
G ARRDC1 arrestin domain containing 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:137,605,686...137,615,360
Ensembl chr 9:137,605,685...137,615,360 		JBrowse link
G ATP6V0A2 ATPase H+ transporting V0 subunit a2 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Joubert-Boltshauser 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 ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:18,015,059...18,039,168
Ensembl chr17:17,977,409...18,039,209 		JBrowse link
G ATXN3L ataxin 3 like IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 More... NCBI chr  X:13,318,647...13,320,053
Ensembl chr  X:13,318,647...13,320,053 		JBrowse link
G B9D1 B9 domain containing 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:21493627 PMID:24886560 More... 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: Familial aplasia of the vermis ClinVar PMID:21763481 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28771248 More... NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165 		JBrowse link
G BCAS3 BCAS3 microtubule associated cell migration factor IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:60,677,851...61,392,831
Ensembl chr17:60,677,453...61,392,838 		JBrowse link
G BRIP1 BRCA1 interacting helicase 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559 		JBrowse link
G BST1 bone marrow stromal cell antigen 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr 4:15,703,065...15,774,173
Ensembl chr 4:15,703,065...15,738,313 		JBrowse link
G C12orf50 chromosome 12 open reading frame 50 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:19764032 PMID:23954617 PMID:27821535 PMID:28492532 NCBI chr12:87,980,035...88,030,232
Ensembl chr12:87,980,035...88,034,037 		JBrowse link
G C17orf67 chromosome 17 open reading frame 67 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:56,791,913...56,833,920
Ensembl chr17:56,791,913...56,838,773 		JBrowse link
G C2CD3 C2 domain containing 3 centriole elongation regulator IAGP ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: Familial aplasia of the vermis		 ClinVar PMID:24997988 PMID:25741868 PMID:26092869 NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210 		JBrowse link
G C8G complement C8 gamma chain IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:136,945,243...136,946,975
Ensembl chr 9:136,945,185...136,946,975 		JBrowse link
G C9orf163 chromosome 9 putative open reading frame 163 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:136,483,495...136,486,067
Ensembl chr 9:136,483,495...136,486,067 		JBrowse link
G CA4 carbonic anhydrase 4 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:60,149,973...60,179,021
Ensembl chr17:60,149,942...60,170,899 		JBrowse link
G CACNA1B calcium voltage-gated channel subunit alpha1 B IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:137,877,782...138,124,619
Ensembl chr 9:137,877,782...138,124,624 		JBrowse link
G CAMSAP1 calmodulin regulated spectrin associated protein 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:135,808,487...135,907,546
Ensembl chr 9:135,808,487...135,907,546 		JBrowse link
G CARD9 caspase recruitment domain family member 9 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:136,363,956...136,373,669
Ensembl chr 9:136,363,956...136,373,681 		JBrowse link
G CBY1 chibby 1, beta catenin antagonist IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:33131181 NCBI chr22:38,656,638...38,673,850
Ensembl chr22:38,656,636...38,673,854 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP ClinVar Annotator: match by term: Familial aplasia of the 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:3631907 PMID:8253763 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552 		JBrowse link
G CCDC183 coiled-coil domain containing 183 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:136,796,338...136,807,741
Ensembl chr 9:136,796,338...136,807,741 		JBrowse link
G CD38 CD38 molecule IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr 4:15,778,328...15,853,232
Ensembl chr 4:15,778,275...15,853,232 		JBrowse link
G CEP290 centrosomal protein 290 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | 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 Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome		 ClinVar PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G CEP41 centrosomal protein 41 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:130,393,771...130,441,741
Ensembl chr 7:130,393,771...130,442,433 		JBrowse link
G CHCT1 CHD1 helical C-terminal domain containing 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:60,421,214...60,431,426
Ensembl chr17:60,392,429...60,431,426 		JBrowse link
G CIMIP2A ciliary microtubule inner protein 2A IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:137,243,599...137,255,122
Ensembl chr 9:137,243,584...137,247,770 		JBrowse link
G CLIC3 chloride intracellular channel 3 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:136,994,608...136,996,568
Ensembl chr 9:136,994,608...136,996,568 		JBrowse link
G CLTC clathrin heavy chain IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:59,619,895...59,696,956
Ensembl chr17:59,619,680...59,696,956 		JBrowse link
G CLUAP1 clusterin associated protein 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 PMID:28679688 NCBI chr16:3,495,427...3,539,048
Ensembl chr16:3,500,976...3,539,048 		JBrowse link
G COIL coilin IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:56,938,199...56,961,050
Ensembl chr17:56,938,199...56,961,050 		JBrowse link
G COPS3 COP9 signalosome subunit 3 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:17,246,616...17,281,246
Ensembl chr17:17,246,616...17,281,273 		JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 IAGP ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1
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:10488899 PMID:16199547 PMID:20301500 PMID:22425360 PMID:24033266 More... NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376 		JBrowse link
G CPLANE1-AS1 CPLANE1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar NCBI chr 5:37,249,046...37,250,646
Ensembl chr 5:37,248,979...37,252,617 		JBrowse link
G CPSF7 cleavage and polyadenylation specific factor 7 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:61,402,729...61,429,975
Ensembl chr11:61,402,641...61,430,031 		JBrowse link
G CUEDC1 CUE domain containing 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:57,861,243...57,955,412
Ensembl chr17:57,861,243...57,955,412 		JBrowse link
G CYB561A3 cytochrome b561 family member A3 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar NCBI chr11:61,348,745...61,362,283
Ensembl chr11:61,348,754...61,362,283 		JBrowse link
G CYSRT1 cysteine rich tail 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:137,225,174...137,226,315
Ensembl chr 9:137,225,174...137,226,315 		JBrowse link
G DGKE diacylglycerol kinase epsilon IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:56,834,151...56,869,567
Ensembl chr17:56,834,107...56,869,567 		JBrowse link
G DHX40 DEAH-box helicase 40 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:59,565,610...59,608,345
Ensembl chr17:59,565,558...59,608,345 		JBrowse link
G DIPK1B divergent protein kinase domain 1B IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:136,712,572...136,724,742
Ensembl chr 9:136,712,572...136,724,742 		JBrowse link
G DNLZ DNL-type zinc finger IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:136,359,483...136,363,744
Ensembl chr 9:136,359,480...136,363,744 		JBrowse link
G DPH7 diphthamide biosynthesis 7 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:137,554,444...137,578,925
Ensembl chr 9:137,554,444...137,578,925 		JBrowse link
G DPP7 dipeptidyl peptidase 7 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:137,110,546...137,118,306
Ensembl chr 9:137,110,542...137,118,309 		JBrowse link
G DRC3 dynein regulatory complex subunit 3 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:17,972,813...18,016,889
Ensembl chr17:17,972,813...18,016,889 		JBrowse link
G DRG2 developmentally regulated GTP binding protein 2 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:18,087,948...18,107,969
Ensembl chr17:18,087,892...18,107,970 		JBrowse link
G DYNLL2 dynein light chain LC8-type 2 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:58,083,419...58,095,542
Ensembl chr17:58,083,419...58,095,542 		JBrowse link
G DYNLL2-DT DYNLL2 divergent transcript IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:58,076,891...58,083,204
Ensembl chr17:58,076,891...58,083,204 		JBrowse link
G EDF1 endothelial differentiation related factor 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:136,862,119...136,866,308
Ensembl chr 9:136,862,119...136,866,308 		JBrowse link
G EGFL6 EGF like domain multiple 6 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 More... NCBI chr  X:13,569,601...13,633,575
Ensembl chr  X:13,569,601...13,633,575 		JBrowse link
G EGFL7 EGF like domain multiple 7 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:136,658,856...136,672,678
Ensembl chr 9:136,658,856...136,672,678 		JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016 		JBrowse link
G EIF2B1 eukaryotic translation initiation factor 2B subunit alpha IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr12:123,620,406...123,633,686
Ensembl chr12:123,620,406...123,633,766 		JBrowse link
G ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:137,048,107...137,054,061
Ensembl chr 9:137,048,107...137,054,061 		JBrowse link
G ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:137,434,364...137,441,357
Ensembl chr 9:137,434,364...137,441,816 		JBrowse link
G ENTR1 endosome associated trafficking regulator 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:136,401,922...136,410,614
Ensembl chr 9:136,401,922...136,410,614 		JBrowse link
G EPN2 epsin 2 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:19,237,366...19,336,715
Ensembl chr17:19,215,615...19,336,715 		JBrowse link
G EPX eosinophil peroxidase IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:58,192,726...58,205,174
Ensembl chr17:58,192,726...58,205,174 		JBrowse link
G EVPLL envoplakin like IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:18,377,778...18,389,647
Ensembl chr17:18,377,778...18,389,647 		JBrowse link
G EXD3 exonuclease 3'-5' domain containing 3 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:137,306,896...137,423,162
Ensembl chr 9:137,306,896...137,423,211 		JBrowse link
G EXOC8 exocyst complex component 8 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis 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: Familial aplasia of the vermis ClinVar PMID:30905400 NCBI chr10:73,168,119...73,244,504
Ensembl chr10:73,168,119...73,244,504 		JBrowse link
G FAM200B family with sequence similarity 200 member B IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr 4:15,636,791...15,690,447
Ensembl chr 4:15,681,662...15,690,447 		JBrowse link
G FAM83G family with sequence similarity 83 member G IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:18,968,789...19,006,116
Ensembl chr17:18,968,789...19,004,764 		JBrowse link
G FAM9C family with sequence similarity 9 member C IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 More... NCBI chr  X:13,035,617...13,044,620
Ensembl chr  X:13,035,617...13,044,682 		JBrowse link
G FBXL5 F-box and leucine rich repeat protein 5 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr 4:15,604,381...15,681,569
Ensembl chr 4:15,604,381...15,681,679 		JBrowse link
G FBXW10 F-box and WD repeat domain containing 10 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:18,744,054...18,779,349
Ensembl chr17:18,744,026...18,779,349 		JBrowse link
G FBXW5 F-box and WD repeat domain containing 5 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:136,940,435...136,944,738
Ensembl chr 9:136,940,435...136,944,738 		JBrowse link
G FGFBP1 fibroblast growth factor binding protein 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr 4:15,935,577...15,938,740
Ensembl chr 4:15,935,577...15,938,740 		JBrowse link
G FGFBP2 fibroblast growth factor binding protein 2 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr 4:15,960,245...15,963,175
Ensembl chr 4:15,960,245...15,969,309 		JBrowse link
G FLCN folliculin IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:17,212,212...17,237,330
Ensembl chr17:17,212,212...17,237,188 		JBrowse link
G FLII FLII actin remodeling protein IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:18,244,815...18,259,022
Ensembl chr17:18,244,815...18,258,738 		JBrowse link
G FTO FTO alpha-ketoglutarate dependent dioxygenase IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome		 ClinVar PMID:17558409 PMID:28492532 NCBI chr16:53,703,963...54,121,941
Ensembl chr16:53,701,692...54,158,512 		JBrowse link
G FUT7 fucosyltransferase 7 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:137,030,174...137,032,088
Ensembl chr 9:137,030,174...137,032,088 		JBrowse link
G GDPD1 glycerophosphodiester phosphodiesterase domain containing 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:59,220,511...59,275,970
Ensembl chr17:59,220,467...59,275,970 		JBrowse link
G GID4 GID complex subunit 4 homolog IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:18,039,408...18,068,405
Ensembl chr17:18,039,408...18,068,405 		JBrowse link
G GLT6D1 glycosyltransferase 6 domain containing 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:135,623,648...135,641,216
Ensembl chr 9:135,623,648...135,639,540 		JBrowse link
G GPSM1 G protein signaling modulator 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:136,327,539...136,359,601
Ensembl chr 9:136,327,476...136,359,605 		JBrowse link
G GRAP GRB2 related adaptor protein IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:19,020,656...19,051,373
Ensembl chr17:19,020,656...19,047,011 		JBrowse link
G GRAPL GRB2 related adaptor protein like IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:19,127,589...19,159,187
Ensembl chr17:19,020,656...19,047,011
Ensembl chr17:19,020,656...19,047,011 		JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756 		JBrowse link
G GTF2H3 general transcription factor IIH subunit 3 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr12:123,633,829...123,662,604
Ensembl chr12:123,633,739...123,662,604 		JBrowse link
G HEATR6 HEAT repeat containing 6 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:60,041,008...60,078,921
Ensembl chr17:60,041,008...60,078,922 		JBrowse link
G HSF5 heat shock transcription factor 5 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:58,420,167...58,488,408
Ensembl chr17:58,420,167...58,488,408 		JBrowse link
G IFT172 intraflagellar transport 172 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:24140113 PMID:25741868 PMID:26092869 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP
EXP		 ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1
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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:10577920 PMID:15786477 PMID:16025100 PMID:16199547 More... NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845 		JBrowse link
G IRX3 iroquois homeobox 3 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:17558409 PMID:28492532 NCBI chr16:54,283,304...54,286,787
Ensembl chr16:54,283,304...54,286,787 		JBrowse link
G IRX5 iroquois homeobox 5 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:17558409 PMID:28492532 NCBI chr16:54,930,865...54,934,485
Ensembl chr16:54,930,865...54,934,485 		JBrowse link
G IRX6 iroquois homeobox 6 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:17558409 PMID:28492532 NCBI chr16:55,324,203...55,330,756
Ensembl chr16:55,324,203...55,330,756 		JBrowse link
G KATNIP katanin interacting protein IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Joubert syndrome 1		 ClinVar PMID:25741868 PMID:26714646 PMID:28492532 NCBI chr16:27,550,144...27,780,344
Ensembl chr16:27,550,133...27,780,344 		JBrowse link
G KCNT1 potassium sodium-activated channel subfamily T member 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:135,702,185...135,795,502
Ensembl chr 9:135,702,185...135,795,508 		JBrowse link
G KIAA0586 KIAA0586 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:20301500 PMID:24033266 PMID:25741868 PMID:26026149 PMID:26096313 More... NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297 		JBrowse link
G KIF7 kinesin family member 7 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:21633164 PMID:25741868 PMID:28492532 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086 		JBrowse link
G KITLG KIT ligand IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis 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 LCN1 lipocalin 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:135,521,440...135,526,540
Ensembl chr 9:135,521,438...135,526,540 		JBrowse link
G LCN10 lipocalin 10 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:136,738,170...136,742,940
Ensembl chr 9:136,738,167...136,743,356 		JBrowse link
G LCN12 lipocalin 12 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:136,949,197...136,956,538
Ensembl chr 9:136,949,551...136,955,497 		JBrowse link
G LCN15 lipocalin 15 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:136,759,634...136,764,518
Ensembl chr 9:136,759,634...136,766,255 		JBrowse link
G LCN6 lipocalin 6 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:136,744,017...136,748,525
Ensembl chr 9:136,744,017...136,748,525 		JBrowse link
G LCN8 lipocalin 8 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:136,754,386...136,758,543
Ensembl chr 9:136,754,386...136,758,543 		JBrowse link
G LCN9 lipocalin 9 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:135,663,309...135,666,961
Ensembl chr 9:135,663,309...135,666,961 		JBrowse link
G LCNL1 lipocalin like 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:136,982,993...136,985,758
Ensembl chr 9:136,981,904...136,986,410 		JBrowse link
G LGALS9C galectin 9C IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:18,476,789...18,494,945
Ensembl chr17:18,476,737...18,494,945 		JBrowse link
G LHX3 LIM homeobox 3 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128 		JBrowse link
G LINC02875 long intergenic non-protein coding RNA 2875 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:61,411,751...61,413,280
Ensembl chr17:61,411,751...61,413,280 		JBrowse link
G LINC02908 long intergenic non-protein coding RNA 2908 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:137,027,464...137,037,955
Ensembl chr 9:137,027,464...137,037,957 		JBrowse link
G LLGL1 LLGL scribble cell polarity complex component 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:18,225,635...18,244,875
Ensembl chr17:18,225,635...18,244,875 		JBrowse link
G LOC126863212 CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:13752241-13753440 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1		 ClinVar PMID:9536098 PMID:16199547 PMID:16311594 PMID:16783569 PMID:17576681 More... NCBI chr  X:13,734,122...13,735,661 JBrowse link
G LOC128669075 CRISPRi-validated MYB cis-regulatory element XLOC_042889 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr 6:135,323,327...135,323,474 JBrowse link
G LOC129389653 MPRA-validated peak6140 silencer IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:15322546 PMID:16199547 PMID:16453322 PMID:23532844 PMID:26092869 More... NCBI chr 6:135,464,747...135,464,947 JBrowse link
G LOC129390514 MPRA-validated peak1864 silencer IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Joubert syndrome 1		 ClinVar PMID:9536098 PMID:16199547 PMID:16909394 PMID:17345604 PMID:17409309 More... NCBI chr12:88,062,639...88,062,839 JBrowse link
G LOC129935417 ATAC-STARR-seq lymphoblastoid silent region 12235 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar NCBI chr 2:201,643,362...201,643,621 JBrowse link
G LOC129993816 ATAC-STARR-seq lymphoblastoid silent region 15979 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar NCBI chr 5:37,249,217...37,249,696 JBrowse link
G LOC129997223 ATAC-STARR-seq lymphoblastoid active region 25106 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:15322546 PMID:16199547 PMID:16453322 PMID:23532844 PMID:26092869 More... NCBI chr 6:135,464,604...135,464,713 JBrowse link
G LOC130008346 ATAC-STARR-seq lymphoblastoid active region 6699 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:19764032 PMID:28492532 NCBI chr12:88,063,628...88,063,687 JBrowse link
G LOC130008755 ATAC-STARR-seq lymphoblastoid active region 7012 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:28492532 NCBI chr12:110,614,406...110,614,455 JBrowse link
G LOC130009117 ATAC-STARR-seq lymphoblastoid silent region 5049 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 NCBI chr12:123,712,178...123,712,727 JBrowse link
G LOC130060455 ATAC-STARR-seq lymphoblastoid silent region 8288 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr17:19,362,363...19,362,632 JBrowse link
G LOC130061271 ATAC-STARR-seq lymphoblastoid active region 12461 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome		 ClinVar PMID:9536098 PMID:16415886 PMID:17576681 PMID:19466712 PMID:24886560 More... NCBI chr17:58,219,083...58,219,362 JBrowse link
G LOC130067975 ATAC-STARR-seq lymphoblastoid silent region 20669 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr  X:13,755,478...13,755,547 JBrowse link
G LOC130067976 ATAC-STARR-seq lymphoblastoid active region 29445 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr  X:13,759,354...13,759,443 JBrowse link
G LPO lactoperoxidase IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:58,238,584...58,268,518
Ensembl chr17:58,218,548...58,268,518 		JBrowse link
G LRRC26 leucine rich repeat containing 26 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:137,168,758...137,170,051
Ensembl chr 9:137,168,758...137,170,051 		JBrowse link
G LRRC34 leucine rich repeat containing 34 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar NCBI chr 3:169,793,003...169,812,904
Ensembl chr 3:169,793,003...169,812,986 		JBrowse link
G MAMDC4 MAM domain containing 4 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:136,852,346...136,860,799
Ensembl chr 9:136,850,943...136,860,799 		JBrowse link
G MAN1B1 mannosidase alpha class 1B member 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:137,086,985...137,109,183
Ensembl chr 9:137,086,857...137,109,189 		JBrowse link
G MAPK7 mitogen-activated protein kinase 7 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:19,377,750...19,383,544
Ensembl chr17:19,377,721...19,383,544 		JBrowse link
G MED9 mediator complex subunit 9 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:17,477,000...17,493,221
Ensembl chr17:17,476,994...17,493,221 		JBrowse link
G MFAP4 microfibril associated protein 4 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:19,383,445...19,387,190
Ensembl chr17:19,383,442...19,387,190 		JBrowse link
G MICALL2 MICAL like 2 IAGP ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar NCBI chr 7:1,434,359...1,459,470
Ensembl chr 7:1,428,465...1,459,470 		JBrowse link
G MIEF2 mitochondrial elongation factor 2 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:18,260,662...18,266,552
Ensembl chr17:18,260,597...18,266,552 		JBrowse link
G MIR126 microRNA 126 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:136,670,602...136,670,686
Ensembl chr 9:136,670,602...136,670,686 		JBrowse link
G MIR21 microRNA 21 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337 		JBrowse link
G MIR33B microRNA 33b IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:17,813,836...17,813,931
Ensembl chr17:17,813,836...17,813,931 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
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 Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome		 ClinVar PMID:9536098 PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 More... NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605 		JBrowse link
G MMP2 matrix metallopeptidase 2 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:17558409 PMID:28492532 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MPO myeloperoxidase IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:58,269,855...58,280,935
Ensembl chr17:58,269,855...58,280,935 		JBrowse link
G MPRIP myosin phosphatase Rho interacting protein IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:17,042,457...17,192,643
Ensembl chr17:17,042,457...17,217,679 		JBrowse link
G MRPL41 mitochondrial ribosomal protein L41 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:137,551,879...137,552,555
Ensembl chr 9:137,551,879...137,552,555 		JBrowse link
G MRPS2 mitochondrial ribosomal protein S2 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:135,499,965...135,504,673
Ensembl chr 9:135,499,984...135,504,673 		JBrowse link
G MRPS23 mitochondrial ribosomal protein S23 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:57,834,781...57,850,044
Ensembl chr17:57,834,781...57,850,056 		JBrowse link
G MSI2 musashi RNA binding protein 2 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:57,255,851...57,701,581
Ensembl chr17:57,255,851...57,684,689 		JBrowse link
G MTMR4 myotubularin related protein 4 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:58,489,537...58,519,047
Ensembl chr17:58,489,529...58,517,905 		JBrowse link
G MYO15A myosin XVA IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:18,108,756...18,179,800
Ensembl chr17:18,108,756...18,179,802 		JBrowse link
G NACA2 nascent polypeptide associated complex subunit alpha 2 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:61,590,421...61,591,219
Ensembl chr17:61,590,421...61,591,219 		JBrowse link
G NACC2 NACC family member 2 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:136,006,537...136,095,289
Ensembl chr 9:136,006,537...136,095,289 		JBrowse link
G NDOR1 NADPH dependent diflavin oxidoreductase 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:137,205,700...137,219,361
Ensembl chr 9:137,205,685...137,219,361 		JBrowse link
G NELFB negative elongation factor complex member B IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:137,255,327...137,273,542
Ensembl chr 9:137,255,327...137,273,542 		JBrowse link
G NOG noggin IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
G NOTCH1 notch receptor 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048 		JBrowse link
G NOXA1 NADPH oxidase activator 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:137,423,393...137,434,406
Ensembl chr 9:137,423,350...137,434,406 		JBrowse link
G NPDC1 neural proliferation, differentiation and control 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:137,039,463...137,046,177
Ensembl chr 9:137,039,463...137,046,179 		JBrowse link
G NPHP1 nephrocystin 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis 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 NRARP NOTCH regulated ankyrin repeat protein IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:137,299,631...137,302,271
Ensembl chr 9:137,299,631...137,302,271 		JBrowse link
G NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:137,447,570...137,459,334
Ensembl chr 9:137,447,570...137,459,334 		JBrowse link
G NT5M 5',3'-nucleotidase, mitochondrial IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:17,303,373...17,347,663
Ensembl chr17:17,303,335...17,347,663 		JBrowse link
G OBP2A odorant binding protein 2A IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:135,546,126...135,549,969
Ensembl chr 9:135,546,126...135,549,969 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome		 ClinVar PMID:9536098 PMID:11179005 PMID:11349230 PMID:12595504 PMID:16199547 More... NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955 		JBrowse link
G OR4D1 olfactory receptor family 4 subfamily D member 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:58,148,384...58,159,585
Ensembl chr17:58,148,384...58,159,585 		JBrowse link
G OR4D2 olfactory receptor family 4 subfamily D member 2 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:58,166,982...58,171,116
Ensembl chr17:58,166,982...58,171,411 		JBrowse link
G PAEP progestagen associated endometrial protein IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:135,561,756...135,566,955
Ensembl chr 9:135,561,756...135,566,955 		JBrowse link
G PAXX PAXX non-homologous end joining factor IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:136,992,422...136,993,976
Ensembl chr 9:136,992,422...136,993,984 		JBrowse link
G PDP1 pyruvate dehydrogenase phosphatase catalytic subunit 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:20232449 PMID:23559409 PMID:28492532 NCBI chr 8:93,916,923...93,926,068
Ensembl chr 8:93,857,807...93,926,068 		JBrowse link
G PDPR pyruvate dehydrogenase phosphatase regulatory subunit IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25558065 PMID:27894351 NCBI chr16:70,113,626...70,163,427
Ensembl chr16:70,114,332...70,162,537 		JBrowse link
G PEMT phosphatidylethanolamine N-methyltransferase IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:17,505,563...17,592,142
Ensembl chr17:17,505,563...17,591,708 		JBrowse link
G PHPT1 phosphohistidine phosphatase 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:136,849,409...136,851,024
Ensembl chr 9:136,848,724...136,851,027 		JBrowse link
G PIBF1 progesterone immunomodulatory binding factor 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:26167768 PMID:28492532 NCBI chr13:72,782,133...73,016,461
Ensembl chr13:72,782,133...73,016,461 		JBrowse link
G PLD6 phospholipase D family member 6 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:17,200,995...17,206,333
Ensembl chr17:17,200,995...17,206,333 		JBrowse link
G PMPCA peptidase, mitochondrial processing subunit alpha IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:136,410,658...136,423,761
Ensembl chr 9:136,410,630...136,427,992 		JBrowse link
G PNPLA7 patatin like phospholipase domain containing 7 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:137,459,952...137,550,402
Ensembl chr 9:137,459,952...137,550,402 		JBrowse link
G PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:60,600,193...60,666,280
Ensembl chr17:60,600,193...60,666,280 		JBrowse link
G PPM1E protein phosphatase, Mg2+/Mn2+ dependent 1E IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:58,755,854...58,985,179
Ensembl chr17:58,755,854...58,985,179 		JBrowse link
G PROM1 prominin 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr 4:15,968,228...16,084,023
Ensembl chr 4:15,963,076...16,084,378 		JBrowse link
G PRPSAP2 phosphoribosyl pyrophosphate synthetase associated protein 2 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:18,856,299...18,931,287
Ensembl chr17:18,840,085...18,931,287 		JBrowse link
G PRR11 proline rich 11 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:59,155,746...59,206,709
Ensembl chr17:59,155,732...59,206,709 		JBrowse link
G PTGDS prostaglandin D2 synthase IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:136,977,504...136,981,742
Ensembl chr 9:136,975,092...136,981,742 		JBrowse link
G PTRH2 peptidyl-tRNA hydrolase 2 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:59,697,308...59,707,430
Ensembl chr17:59,674,636...59,707,626 		JBrowse link
G QSOX2 quiescin sulfhydryl oxidase 2 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:136,206,333...136,245,812
Ensembl chr 9:136,206,333...136,245,812 		JBrowse link
G RAB9A RAB9A, member RAS oncogene family IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 More... NCBI chr  X:13,689,128...13,710,504
Ensembl chr  X:13,689,128...13,710,504 		JBrowse link
G RABL6 RAB, member RAS oncogene family like 6 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:136,807,948...136,841,187
Ensembl chr 9:136,807,943...136,841,187 		JBrowse link
G RAD51C RAD51 paralog C IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611 		JBrowse link
G RAI1 retinoic acid induced 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453 		JBrowse link
G RASD1 ras related dexamethasone induced 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:17,494,437...17,496,395
Ensembl chr17:17,494,437...17,496,395 		JBrowse link
G RCOR1 REST corepressor 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:26489029 NCBI chr14:102,592,649...102,730,561
Ensembl chr14:102,592,649...102,730,561 		JBrowse link
G RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:9536098 PMID:16682973 PMID:16909394 PMID:17576681 PMID:19764032 More... NCBI chr12:88,035,536...88,050,160
Ensembl chr12:88,033,846...88,050,160 		JBrowse link
G RNF112 ring finger protein 112 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:19,411,232...19,417,276
Ensembl chr17:19,411,125...19,417,276 		JBrowse link
G RNF208 ring finger protein 208 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:137,220,259...137,223,408
Ensembl chr 9:137,220,247...137,222,240 		JBrowse link
G RNF224 ring finger protein 224 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:137,227,502...137,229,640
Ensembl chr 9:137,227,502...137,229,640 		JBrowse link
G RNF43 ring finger protein 43 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:58,352,500...58,417,534
Ensembl chr17:58,353,676...58,417,595 		JBrowse link
G RNFT1 ring finger protein, transmembrane 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:59,952,240...59,964,740
Ensembl chr17:59,952,240...59,964,761 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | 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:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 More... NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		JBrowse link
G RPS6KB1 ribosomal protein S6 kinase B1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:59,893,121...59,950,574
Ensembl chr17:59,893,046...59,950,574 		JBrowse link
G SAPCD2 suppressor APC domain containing 2 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:137,062,127...137,070,557
Ensembl chr 9:137,062,127...137,070,557 		JBrowse link
G SCPEP1 serine carboxypeptidase 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:56,978,131...57,006,768
Ensembl chr17:56,978,129...57,006,768 		JBrowse link
G SDHAF2 succinate dehydrogenase complex assembly factor 2 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:61,430,124...61,446,733
Ensembl chr11:61,430,042...61,446,839 		JBrowse link
G SEC16A SEC16 homolog A, endoplasmic reticulum export factor IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:136,440,105...136,484,740
Ensembl chr 9:136,440,096...136,483,759 		JBrowse link
G SEPTIN4 septin 4 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:58,520,256...58,544,328
Ensembl chr17:58,520,250...58,544,368 		JBrowse link
G SHMT1 serine hydroxymethyltransferase 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:18,327,873...18,363,550
Ensembl chr17:18,327,873...18,363,550 		JBrowse link
G SKA2 spindle and kinetochore associated complex subunit 2 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:59,109,857...59,155,186
Ensembl chr17:59,109,857...59,155,260 		JBrowse link
G SLC34A3 solute carrier family 34 member 3 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:137,229,730...137,236,555
Ensembl chr 9:137,230,757...137,236,555 		JBrowse link
G SLC47A1 solute carrier family 47 member 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:19,533,854...19,579,034
Ensembl chr17:19,495,385...19,579,034 		JBrowse link
G SLC5A10 solute carrier family 5 member 10 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:18,950,676...19,022,565
Ensembl chr17:18,950,345...19,022,595 		JBrowse link
G SMCR8 SMCR8-C9orf72 complex subunit IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:18,315,293...18,328,056
Ensembl chr17:18,315,293...18,328,056 		JBrowse link
G SMG8 SMG8 nonsense mediated mRNA decay factor IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:59,210,035...59,215,230
Ensembl chr17:59,209,400...59,215,239 		JBrowse link
G SNAPC4 small nuclear RNA activating complex polypeptide 4 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:136,375,571...136,400,170
Ensembl chr 9:136,375,567...136,400,176 		JBrowse link
G SNHG7 small nucleolar RNA host gene 7 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:136,724,594...136,728,184
Ensembl chr 9:136,721,366...136,728,184 		JBrowse link
G SNORD3A small nucleolar RNA, C/D box 3A IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:19,188,016...19,188,232
Ensembl chr17:19,188,016...19,188,714 		JBrowse link
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:135,693,407...135,702,112
Ensembl chr 9:135,693,407...135,704,498 		JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:17,811,334...17,836,986
Ensembl chr17:17,810,399...17,837,002 		JBrowse link
G SRSF1 serine and arginine rich splicing factor 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:57,989,038...58,007,246
Ensembl chr17:58,000,919...58,007,346 		JBrowse link
G SSNA1 SS nuclear autoantigen 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:137,188,676...137,190,366
Ensembl chr 9:137,188,660...137,190,370 		JBrowse link
G STPG3 sperm-tail PG-rich repeat containing 3 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:137,251,286...137,253,483
Ensembl chr 9:137,251,261...137,253,483 		JBrowse link
G SUPT4H1 SPT4 homolog, DSIF elongation factor subunit IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:58,345,178...58,352,201
Ensembl chr17:58,345,175...58,353,093 		JBrowse link
G TAPT1 transmembrane anterior posterior transformation 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr 4:16,160,505...16,227,390
Ensembl chr 4:16,160,505...16,227,410 		JBrowse link
G TBC1D28 TBC1 domain family member 28 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:18,634,247...18,644,391
Ensembl chr17:18,634,247...18,644,427 		JBrowse link
G TBX2 T-box transcription factor 2 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:61,399,843...61,409,466
Ensembl chr17:61,399,843...61,409,466 		JBrowse link
G TBX4 T-box transcription factor 4 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,452,404...61,485,110 		JBrowse link
G TCEANC transcription elongation factor A N-terminal and central domain containing IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 More... NCBI chr  X:13,653,141...13,665,409
Ensembl chr  X:13,653,112...13,681,964 		JBrowse link
G TCTN1 tectonic family member 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome		 CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21725307 More... NCBI chr12:110,614,129...110,649,430
Ensembl chr12:110,614,027...110,663,431 		JBrowse link
G TCTN2 tectonic family member 2 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:21462283 PMID:21565611 More... NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399 		JBrowse link
G TEX14 testis expressed 14, intercellular bridge forming factor IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:58,556,678...58,692,045
Ensembl chr17:58,556,678...58,692,055 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TLR7 toll like receptor 7 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 More... NCBI chr  X:12,867,072...12,890,361
Ensembl chr  X:12,867,072...12,890,361 		JBrowse link
G TLR8 toll like receptor 8 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 More... NCBI chr  X:12,906,620...12,923,169
Ensembl chr  X:12,906,620...12,923,169 		JBrowse link
G TMEM138 transmembrane protein 138 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar NCBI chr11:61,362,374...61,376,870
Ensembl chr11:61,361,964...61,377,890 		JBrowse link
G TMEM141 transmembrane protein 141 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:136,791,344...136,793,317
Ensembl chr 9:136,791,344...136,793,317 		JBrowse link
G TMEM17 transmembrane protein 17 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar NCBI chr 2:62,453,531...62,506,195
Ensembl chr 2:62,500,218...62,511,894 		JBrowse link
G TMEM203 transmembrane protein 203 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:137,204,082...137,205,648
Ensembl chr 9:137,204,082...137,205,648 		JBrowse link
G TMEM210 transmembrane protein 210 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:137,170,858...137,172,056
Ensembl chr 9:137,170,858...137,172,056 		JBrowse link
G TMEM216 transmembrane protein 216 IAGP ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19763152 More... NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866 		JBrowse link
G TMEM218 transmembrane protein 218 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:33791682 NCBI chr11:125,094,389...125,111,626
Ensembl chr11:125,094,389...125,111,763 		JBrowse link
G TMEM231 transmembrane protein 231 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:28492532 NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289 		JBrowse link
G TMEM237 transmembrane protein 237 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1		 ClinVar PMID:17603801 PMID:22152675 PMID:22981120 PMID:24033266 PMID:25741868 More... NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570 		JBrowse link
G TMEM250 transmembrane protein 250 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:136,107,767...136,118,875
Ensembl chr 9:136,114,581...136,118,875 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: Familial aplasia of the 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 Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1		 ClinVar PMID:2929661 PMID:8862632 PMID:9375913 PMID:9536098 PMID:10567047 More... NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G TMSB4X thymosin beta 4 X-linked IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 More... NCBI chr  X:12,975,110...12,977,223
Ensembl chr  X:12,975,110...12,977,227 		JBrowse link
G TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis 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 TNFRSF13B TNF receptor superfamily member 13B IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118 		JBrowse link
G TOGARAM1 TOG array regulator of axonemal microtubules 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:32453716 PMID:32747439 NCBI chr14:44,962,190...45,074,431
Ensembl chr14:44,962,190...45,074,431 		JBrowse link
G TOM1L2 target of myb1 like 2 membrane trafficking protein IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:17,843,511...17,972,400
Ensembl chr17:17,843,511...17,972,422 		JBrowse link
G TOP3A DNA topoisomerase III alpha IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:18,271,428...18,314,994
Ensembl chr17:18,271,428...18,315,007 		JBrowse link
G TOR4A torsin family 4 member A IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:137,277,726...137,282,641
Ensembl chr 9:137,277,726...137,282,641 		JBrowse link
G TPRN taperin IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:137,191,619...137,200,741
Ensembl chr 9:137,191,617...137,204,193 		JBrowse link
G TRAF2 TNF receptor associated factor 2 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:136,881,958...136,926,607
Ensembl chr 9:136,881,912...136,926,607 		JBrowse link
G TRAPPC2 trafficking protein particle complex subunit 2 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:25674159 More... NCBI chr  X:13,712,245...13,734,620
Ensembl chr  X:13,712,244...13,734,635 		JBrowse link
G TRIM16L tripartite motif containing 16 like (pseudogene) IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:18,697,998...18,736,112
Ensembl chr17:18,722,237...18,735,460
Ensembl chr17:18,722,237...18,735,460 		JBrowse link
G TRIM25 tripartite motif containing 25 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:56,887,909...56,914,049
Ensembl chr17:56,836,387...56,914,080 		JBrowse link
G TRIM37 tripartite motif containing 37 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:58,967,201...59,106,880
Ensembl chr17:58,982,638...59,106,921 		JBrowse link
G TSPOAP1 TSPO associated protein 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:58,301,231...58,328,795
Ensembl chr17:58,301,228...58,328,795 		JBrowse link
G TTC21B tetratricopeptide repeat domain 21B IAGP ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar Annotator: match by term: Familial aplasia of the vermis		 ClinVar PMID:21258341 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851 		JBrowse link
G TTC21B-AS1 TTC21B antisense RNA 1 IAGP ClinVar Annotator: match by term: Cerebellooculorenal 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
G TUBB4B tubulin beta 4B class IVb IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:137,241,287...137,243,707
Ensembl chr 9:137,241,287...137,243,707 		JBrowse link
G TUBD1 tubulin delta 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:59,859,479...59,892,943
Ensembl chr17:59,859,479...59,892,945 		JBrowse link
G TVP23B trans-golgi network vesicle protein 23 homolog B IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:18,781,183...18,806,714
Ensembl chr17:18,781,111...18,806,714 		JBrowse link
G UAP1L1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:137,077,517...137,084,538
Ensembl chr 9:137,077,517...137,084,539 		JBrowse link
G UBAC1 UBA domain containing 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:135,932,969...135,961,373
Ensembl chr 9:135,932,969...135,961,373 		JBrowse link
G USH2A usherin IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16963483 PMID:24033266 PMID:25741868 PMID:28041643 PMID:28492532 More... NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448 		JBrowse link
G USP32 ubiquitin specific peptidase 32 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:60,177,327...60,422,416
Ensembl chr17:60,177,327...60,422,470 		JBrowse link
G VEZF1 vascular endothelial zinc finger 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:57,971,552...57,988,254
Ensembl chr17:57,971,547...57,988,259 		JBrowse link
G VMP1 vacuole membrane protein 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:59,707,654...59,842,255
Ensembl chr17:59,707,192...59,842,255 		JBrowse link
G WDPCP WD repeat containing planar cell polarity effector IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:27158779 PMID:28492532 NCBI chr 2:63,119,559...63,840,826
Ensembl chr 2:63,119,559...63,827,843 		JBrowse link
G YPEL2 yippee like 2 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:59,331,655...59,401,729
Ensembl chr17:59,331,655...59,401,729 		JBrowse link
G ZMYND19 zinc finger MYND-type containing 19 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:137,582,081...137,590,512
Ensembl chr 9:137,582,081...137,590,512 		JBrowse link
Joubert syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126863212 CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:13752241-13753440 IAGP ClinVar Annotator: match by term: Joubert syndrome 10 ClinVar PMID:25741868 PMID:28492532 PMID:35728977 NCBI chr  X:13,734,122...13,735,661 JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP
EXP		 DNA:deletions:exon:c.2841_2847del, c.2767del (human)
ClinVar Annotator: match by term: Joubert syndrome 10
CTD Direct Evidence: marker/mechanism
DNA:duplication:exon:2122-2125dup (human)		 ClinVar
CTD
OMIM
RGD		 PMID:16783569 PMID:18546297 PMID:19800048 PMID:22353940 PMID:23033313 More... RGD:11535963, RGD:11535965 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955 		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 chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086 		JBrowse link
Joubert Syndrome 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130008755 ATAC-STARR-seq lymphoblastoid active region 7012 IAGP ClinVar Annotator: match by term: Joubert syndrome 13 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:110,614,406...110,614,455 JBrowse link
G TCTN1 tectonic family member 1 IAGP ClinVar Annotator: match by term: Joubert syndrome 13 ClinVar
OMIM		 PMID:16199547 PMID:18414213 PMID:21725307 PMID:22693042 PMID:25558065 More... NCBI chr12:110,614,129...110,649,430
Ensembl chr12:110,614,027...110,663,431 		JBrowse link
Joubert syndrome 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 IAGP ClinVar Annotator: match by term: Joubert syndrome 14 ClinVar PMID:11586298 PMID:22152675 PMID:24315819 PMID:28492532 NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112 		JBrowse link
G C2CD6 C2 calcium dependent domain containing 6 IAGP ClinVar Annotator: match by term: Joubert syndrome 14 ClinVar PMID:22152675 PMID:28492532 NCBI chr 2:201,487,421...201,619,178
Ensembl chr 2:201,487,421...201,619,178 		JBrowse link
G LOC129935416 ATAC-STARR-seq lymphoblastoid silent region 12234 IAGP ClinVar Annotator: match by term: Joubert syndrome 14 ClinVar PMID:22152675 PMID:28492532 NCBI chr 2:201,642,602...201,642,791 JBrowse link
G LOC129935417 ATAC-STARR-seq lymphoblastoid silent region 12235 IAGP ClinVar Annotator: match by term: Joubert syndrome 14 ClinVar PMID:22152675 PMID:25741868 PMID:28492532 NCBI chr 2:201,643,362...201,643,621 JBrowse link
G MPP4 MAGUK p55 scaffold protein 4 IAGP ClinVar Annotator: match by term: Joubert syndrome 14 ClinVar PMID:11586298 PMID:22152675 PMID:24315819 PMID:28492532 NCBI chr 2:201,644,874...201,698,644
Ensembl chr 2:201,644,870...201,698,694 		JBrowse link
G STRADB STE20 related adaptor beta IAGP ClinVar Annotator: match by term: Joubert syndrome 14 ClinVar PMID:28492532 NCBI chr 2:201,451,740...201,480,846
Ensembl chr 2:201,387,858...201,480,846 		JBrowse link
G TMEM237 transmembrane protein 237 IAGP ClinVar Annotator: match by term: Joubert syndrome 14
ClinVar Annotator: match by term: Joubert syndrome 14 | ClinVar Annotator: match by term: TMEM237-related condition		 ClinVar
OMIM		 PMID:9536098 PMID:11586298 PMID:14760273 PMID:16199547 PMID:17576681 More... 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 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20301500 More... NCBI chr 7:130,393,771...130,441,741
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 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22282472 PMID:25741868 PMID:26092869 More... NCBI chr11:61,362,374...61,376,870
Ensembl chr11:61,361,964...61,377,890 		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 IAGP ClinVar Annotator: match by term: Joubert syndrome 17 ClinVar PMID:18319074 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:226,940,294...226,987,544
Ensembl chr 1:226,940,286...226,987,544 		JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 ISO
IAGP
ISS		 DNA:missense mutation: :p.S235P (mouse)
ClinVar Annotator: match by term: Joubert syndrome 17
ClinVar Annotator: match by term: CPLANE1-related condition | ClinVar Annotator: match by term: Joubert syndrome 17
OMIM:614615		 ClinVar
MouseDO
OMIM
RGD		 PMID:9536098 PMID:10488899 PMID:16199547 PMID:17576681 PMID:18414213 More... RGD:11537349 NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376 		JBrowse link
G CPLANE1-AS1 CPLANE1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Joubert syndrome 17 ClinVar NCBI chr 5:37,249,046...37,250,646
Ensembl chr 5:37,248,979...37,252,617 		JBrowse link
G CRYGD crystallin gamma D IAGP ClinVar Annotator: match by term: Joubert syndrome 17 ClinVar PMID:19390652 PMID:22995991 PMID:25741868 PMID:28492532 NCBI chr 2:208,121,607...208,124,524
Ensembl chr 2:208,121,607...208,124,524 		JBrowse link
G GH-LCR growth hormone locus control region IAGP ClinVar Annotator: match by term: Joubert syndrome 17 ClinVar PMID:7695243 PMID:9266738 PMID:18046642 PMID:20981092 PMID:25741868 More... NCBI chr17:63,917,193...63,958,852 JBrowse link
G LOC100507443 uncharacterized LOC100507443 IAGP ClinVar Annotator: match by term: Joubert syndrome 17 ClinVar PMID:19390652 PMID:22995991 PMID:25741868 PMID:28492532 NCBI chr 2:208,119,129...208,156,762 JBrowse link
G LOC129389274 MPRA-validated peak5227 silencer IAGP ClinVar Annotator: match by term: Joubert syndrome 17 ClinVar PMID:25741868 PMID:28492532 PMID:28518168 PMID:29321670 PMID:32461654 NCBI chr 5:37,184,793...37,184,993 JBrowse link
G LOC129993816 ATAC-STARR-seq lymphoblastoid silent region 15979 IAGP ClinVar Annotator: match by term: Joubert syndrome 17 ClinVar NCBI chr 5:37,249,217...37,249,696 JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP ClinVar Annotator: match by term: Joubert syndrome 17 ClinVar PMID:7695243 PMID:9266738 PMID:18046642 PMID:20981092 PMID:25741868 More... NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
Joubert Syndrome 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130004408 ATAC-STARR-seq lymphoblastoid active region 3801 IAGP ClinVar Annotator: match by term: Joubert syndrome 18 ClinVar PMID:25741868 PMID:26092869 PMID:28492532 NCBI chr10:95,693,632...95,693,911 JBrowse link
G TCTN3 tectonic family member 3 IAGP ClinVar Annotator: match by term: Joubert syndrome 18 ClinVar
OMIM		 PMID:2692869 PMID:16199547 PMID:22883145 PMID:25118024 PMID:25741868 More... NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...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
EXP		 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 Annotator: match by term: Joubert syndrome 2
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:16199547 PMID:18414213 PMID:20036350 PMID:20301500 PMID:20512146 More... RGD:11561919 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866 		JBrowse link
Joubert syndrome 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAT1 adenosine deaminase tRNA specific 1 IAGP ClinVar Annotator: match by term: Joubert syndrome 20 ClinVar PMID:23012439 PMID:23349226 PMID:28492532 NCBI chr16:75,596,868...75,623,281
Ensembl chr16:75,596,868...75,623,300 		JBrowse link
G CHST5 carbohydrate sulfotransferase 5 IAGP ClinVar Annotator: match by term: Joubert syndrome 20 ClinVar PMID:23012439 PMID:27449316 PMID:28492532 NCBI chr16:75,528,530...75,536,108
Ensembl chr16:75,528,530...75,536,108 		JBrowse link
G CHST6 carbohydrate sulfotransferase 6 IAGP ClinVar Annotator: match by term: Joubert syndrome 20 ClinVar PMID:23012439 PMID:27449316 PMID:28492532 NCBI chr16:75,472,042...75,495,441
Ensembl chr16:75,472,052...75,495,445 		JBrowse link
G GABARAPL2 GABA type A receptor associated protein like 2 IAGP ClinVar Annotator: match by term: Joubert syndrome 20 ClinVar PMID:23012439 PMID:23349226 PMID:28492532 NCBI chr16:75,566,379...75,577,881
Ensembl chr16:75,566,375...75,577,881 		JBrowse link
G KARS1 lysyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Joubert syndrome 20 ClinVar PMID:23012439 PMID:23349226 PMID:28492532 NCBI chr16:75,627,724...75,647,665
Ensembl chr16:75,627,474...75,648,643 		JBrowse link
G LOC130059440 ATAC-STARR-seq lymphoblastoid silent region 7724 IAGP ClinVar Annotator: match by term: Joubert syndrome 20 ClinVar PMID:23012439 PMID:23349226 PMID:25741868 PMID:28492532 PMID:31054281 NCBI chr16:75,555,943...75,556,022 JBrowse link
G TERF2IP TERF2 interacting protein IAGP ClinVar Annotator: match by term: Joubert syndrome 20 ClinVar PMID:23012439 PMID:23349226 PMID:28492532 NCBI chr16:75,647,773...75,657,432
Ensembl chr16:75,647,773...75,761,872 		JBrowse link
G TMEM170A transmembrane protein 170A IAGP ClinVar Annotator: match by term: Joubert syndrome 20 ClinVar PMID:23012439 PMID:27449316 PMID:28492532 NCBI chr16:75,443,054...75,464,737
Ensembl chr16:75,443,054...75,465,497 		JBrowse link
G TMEM231 transmembrane protein 231 IAGP ClinVar Annotator: match by term: Joubert syndrome 20 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23012439 PMID:23349226 More... NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289 		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:9536098 PMID:16199547 PMID:17576681 PMID:24360803 PMID:24360807 More... NCBI chr 8:67,173,511...67,343,781
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 CPA6 carboxypeptidase A6 IAGP ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar PMID:24360807 PMID:24360808 PMID:28492532 NCBI chr 8:67,422,038...67,746,360
Ensembl chr 8:67,422,038...67,746,378 		JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20301500 PMID:24033266 More... NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778 		JBrowse link
G MCMDC2 minichromosome maintenance domain containing 2 IAGP ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar PMID:28492532 NCBI chr 8:66,870,771...66,926,382
Ensembl chr 8:66,870,749...66,922,048 		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
G SNHG6 small nucleolar RNA host gene 6 IAGP ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar PMID:28492532 NCBI chr 8:66,921,690...66,925,541
Ensembl chr 8:66,920,561...66,926,398 		JBrowse link
G SNORD87 small nucleolar RNA, C/D box 87 IAGP ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar PMID:28492532 NCBI chr 8:66,922,474...66,922,549
Ensembl chr 8:66,922,467...66,922,555 		JBrowse link
G TCF24 transcription factor 24 IAGP ClinVar Annotator: match by term: Joubert syndrome 21 ClinVar PMID:28492532 NCBI chr 8:66,946,501...66,962,591
Ensembl chr 8:66,946,501...66,962,591 		JBrowse link
Joubert syndrome 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALPG alkaline phosphatase, germ cell IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:232,406,844...232,410,714
Ensembl chr 2:232,406,844...232,410,714 		JBrowse link
G ALPI alkaline phosphatase, intestinal IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:232,456,153...232,460,753
Ensembl chr 2:232,456,125...232,460,753 		JBrowse link
G ALPP alkaline phosphatase, placental IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:232,378,751...232,382,889
Ensembl chr 2:232,378,724...232,382,889 		JBrowse link
G ARMC9 armadillo repeat containing 9 IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:231,198,631...231,376,848
Ensembl chr 2:231,198,546...231,376,848 		JBrowse link
G ATG16L1 autophagy related 16 like 1 IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:233,251,673...233,295,669
Ensembl chr 2:233,210,051...233,295,674 		JBrowse link
G B3GNT7 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:231,395,710...231,401,164
Ensembl chr 2:231,395,671...231,408,799 		JBrowse link
G C2orf72 chromosome 2 open reading frame 72 IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:231,037,523...231,049,719
Ensembl chr 2:231,037,523...231,049,719 		JBrowse link
G CAB39 calcium binding protein 39 IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:230,712,842...230,821,075
Ensembl chr 2:230,712,842...230,821,075 		JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667 		JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
G COPS7B COP9 signalosome subunit 7B IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:231,781,671...231,809,253
Ensembl chr 2:231,781,671...231,809,254 		JBrowse link
G DGKD diacylglycerol kinase delta IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:233,354,494...233,472,098
Ensembl chr 2:233,354,494...233,472,104 		JBrowse link
G DIS3L2 DIS3 like 3'-5' exoribonuclease 2 IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:231,961,713...232,344,350
Ensembl chr 2:231,961,245...232,344,350 		JBrowse link
G DNAJB3 DnaJ heat shock protein family (Hsp40) member B3 IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:233,742,750...233,743,998
Ensembl chr 2:233,743,188...233,743,916
Ensembl chr 2:233,743,188...233,743,916 		JBrowse link
G ECEL1 endothelin converting enzyme like 1 IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:232,479,827...232,487,834
Ensembl chr 2:232,479,827...232,487,834 		JBrowse link
G EFHD1 EF-hand domain family member D1 IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:232,606,057...232,682,776
Ensembl chr 2:232,606,057...232,682,776 		JBrowse link
G EIF4E2 eukaryotic translation initiation factor 4E family member 2 IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:232,550,689...232,583,644
Ensembl chr 2:232,550,659...232,583,644 		JBrowse link
G GIGYF2 GRB10 interacting GYF protein 2 IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:232,697,331...232,860,605
Ensembl chr 2:232,697,299...232,860,605 		JBrowse link
G GPR55 G protein-coupled receptor 55 IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:230,907,328...230,961,201
Ensembl chr 2:230,907,318...230,961,066 		JBrowse link
G HJURP Holliday junction recognition protein IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:233,836,702...233,854,535
Ensembl chr 2:233,833,416...233,854,566 		JBrowse link
G HTR2B 5-hydroxytryptamine receptor 2B IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:231,108,230...231,125,042
Ensembl chr 2:231,108,230...231,125,042 		JBrowse link
G ITM2C integral membrane protein 2C IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:230,864,185...230,879,254
Ensembl chr 2:230,864,639...230,879,248 		JBrowse link
G KCNJ13 potassium inwardly rectifying channel subfamily J member 13 IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:232,765,802...232,776,565
Ensembl chr 2:232,765,802...232,776,565 		JBrowse link
G LOC129935846 ATAC-STARR-seq lymphoblastoid active region 17317 IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:231,781,079...231,781,308 JBrowse link
G MROH2A maestro heat like repeat family member 2A IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:233,775,724...233,833,418
Ensembl chr 2:233,775,679...233,833,423 		JBrowse link
G NCL nucleolin IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:231,453,531...231,464,484
Ensembl chr 2:231,453,531...231,483,641 		JBrowse link
G NEU2 neuraminidase 2 IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:233,032,672...233,035,057
Ensembl chr 2:233,032,672...233,035,057 		JBrowse link
G NGEF neuronal guanine nucleotide exchange factor IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:232,878,701...233,013,256
Ensembl chr 2:232,878,701...233,013,256 		JBrowse link
G NMUR1 neuromedin U receptor 1 IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:231,518,455...231,530,445
Ensembl chr 2:231,523,187...231,530,445 		JBrowse link
G NPPC natriuretic peptide C IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:231,921,809...231,926,396
Ensembl chr 2:231,921,809...231,926,396 		JBrowse link
G PDE6D phosphodiesterase 6D IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar
OMIM		 PMID:9536098 PMID:17496142 PMID:17576681 PMID:24166846 PMID:25741868 More... NCBI chr 2:231,732,433...231,781,282
Ensembl chr 2:231,732,433...231,786,272 		JBrowse link
G PRSS56 serine protease 56 IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:232,520,388...232,525,716
Ensembl chr 2:232,520,388...232,525,716 		JBrowse link
G PSMD1 proteasome 26S subunit, non-ATPase 1 IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:231,056,867...231,172,827
Ensembl chr 2:231,056,845...231,173,116 		JBrowse link
G PTMA prothymosin alpha IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:231,708,525...231,713,551
Ensembl chr 2:231,706,895...231,713,551 		JBrowse link
G SAG S-antigen visual arrestin IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:233,307,816...233,347,055
Ensembl chr 2:233,307,816...233,347,055 		JBrowse link
G SNORC secondary ossification center associated regulator of chondrocyte maturation IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:232,866,451...232,878,700
Ensembl chr 2:232,857,270...232,878,708 		JBrowse link
G SNORD20 small nucleolar RNA, C/D box 20 IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:231,456,444...231,456,523
Ensembl chr 2:231,456,444...231,456,523 		JBrowse link
G SNORD82 small nucleolar RNA, C/D box 82 IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:231,460,368...231,460,442
Ensembl chr 2:231,460,371...231,460,440 		JBrowse link
G SP100 SP100 nuclear antigen IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:230,416,201...230,545,606
Ensembl chr 2:230,415,942...230,545,606 		JBrowse link
G SP110 SP110 nuclear body protein IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:230,165,186...230,225,636
Ensembl chr 2:230,165,186...230,225,729 		JBrowse link
G SP140 SP140 nuclear body protein IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:230,186,151...230,316,571
Ensembl chr 2:230,203,110...230,313,215 		JBrowse link
G SP140L SP140 nuclear body protein like IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:230,327,193...230,403,732
Ensembl chr 2:230,327,184...230,403,732 		JBrowse link
G SPATA3 spermatogenesis associated 3 IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:230,996,121...231,020,109
Ensembl chr 2:230,990,324...231,025,055 		JBrowse link
G SPP2 secreted phosphoprotein 2 IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:234,050,702...234,077,134
Ensembl chr 2:234,050,679...234,077,134 		JBrowse link
G TEX44 testis expressed 44 IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:231,592,864...231,594,276
Ensembl chr 2:231,592,864...231,594,276 		JBrowse link
G TIGD1 tigger transposable element derived 1 IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:232,543,883...232,550,557
Ensembl chr 2:232,543,883...232,550,557 		JBrowse link
G TRPM8 transient receptor potential cation channel subfamily M member 8 IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:233,917,373...234,019,522
Ensembl chr 2:233,917,373...234,019,522 		JBrowse link
G UGT1A1 UDP glucuronosyltransferase family 1 member A1 IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:233,760,270...233,773,300
Ensembl chr 2:233,760,270...233,773,300 		JBrowse link
G UGT1A10 UDP glucuronosyltransferase family 1 member A10 IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:233,636,448...233,773,300
Ensembl chr 2:233,636,448...233,773,300 		JBrowse link
G UGT1A3 UDP glucuronosyltransferase family 1 member A3 IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:233,729,042...233,773,300
Ensembl chr 2:233,729,042...233,773,300 		JBrowse link
G UGT1A4 UDP glucuronosyltransferase family 1 member A4 IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:233,718,736...233,773,300
Ensembl chr 2:233,718,736...233,773,300 		JBrowse link
G UGT1A5 UDP glucuronosyltransferase family 1 member A5 IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:233,712,907...233,773,300
Ensembl chr 2:233,712,907...233,773,300 		JBrowse link
G UGT1A6 UDP glucuronosyltransferase family 1 member A6 IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:233,691,702...233,773,300
Ensembl chr 2:233,691,607...233,773,300 		JBrowse link
G UGT1A7 UDP glucuronosyltransferase family 1 member A7 IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:233,681,901...233,773,300
Ensembl chr 2:233,681,901...233,773,300 		JBrowse link
G UGT1A8 UDP glucuronosyltransferase family 1 member A8 IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:233,617,633...233,773,300
Ensembl chr 2:233,617,633...233,773,300 		JBrowse link
G UGT1A9 UDP glucuronosyltransferase family 1 member A9 IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:233,671,898...233,773,300
Ensembl chr 2:233,671,898...233,773,300 		JBrowse link
G USP40 ubiquitin specific peptidase 40 IAGP ClinVar Annotator: match by term: Joubert syndrome 22 ClinVar PMID:28492532 NCBI chr 2:233,475,526...233,566,782
Ensembl chr 2:233,475,526...233,566,782 		JBrowse link
Joubert syndrome 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID4A AT-rich interaction domain 4A IAGP ClinVar Annotator: match by term: Joubert syndrome 23 ClinVar PMID:26096313 PMID:26166481 PMID:26386044 PMID:28492532 NCBI chr14:58,298,555...58,373,876
Ensembl chr14:58,298,504...58,373,887 		JBrowse link
G KIAA0586 KIAA0586 IAGP ClinVar Annotator: match by term: Joubert syndrome 23 ClinVar
OMIM		 PMID:2080096 PMID:2609613 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297 		JBrowse link
G PSMA3 proteasome 20S subunit alpha 3 IAGP ClinVar Annotator: match by term: Joubert syndrome 23 ClinVar PMID:26096313 PMID:26166481 PMID:26386044 PMID:28492532 NCBI chr14:58,244,843...58,272,004
Ensembl chr14:58,244,843...58,272,012 		JBrowse link
G TIMM9 translocase of inner mitochondrial membrane 9 IAGP ClinVar Annotator: match by term: Joubert syndrome 23 ClinVar PMID:26096313 PMID:26166481 PMID:26386044 PMID:28492532 NCBI chr14:58,408,494...58,427,531
Ensembl chr14:58,408,495...58,427,531 		JBrowse link
G TOMM20L translocase of outer mitochondrial membrane 20 like IAGP ClinVar Annotator: match by term: Joubert syndrome 23 ClinVar PMID:26096313 PMID:26166481 PMID:26386044 PMID:28492532 NCBI chr14:58,395,930...58,417,080
Ensembl chr14:58,395,928...58,408,702 		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:9536098 PMID:16199547 PMID:17576681 PMID:21462283 PMID:21565611 More... NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...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 ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,292,391...1,307,930
Ensembl chr 1:1,292,390...1,309,609 		JBrowse link
G ACTRT2 actin related protein T2 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:3,021,467...3,022,903
Ensembl chr 1:3,021,467...3,022,903 		JBrowse link
G AGRN agrin IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,118 		JBrowse link
G ANKRD65 ankyrin repeat domain 65 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,418,420...1,421,276
Ensembl chr 1:1,418,420...1,421,769 		JBrowse link
G ARHGEF16 Rho guanine nucleotide exchange factor 16 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:3,454,665...3,481,113
Ensembl chr 1:3,454,665...3,481,113 		JBrowse link
G ATAD3A ATPase family AAA domain containing 3A IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,512,162...1,534,685
Ensembl chr 1:1,512,162...1,534,685 		JBrowse link
G ATAD3B ATPase family AAA domain containing 3B IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,471,765...1,509,466
Ensembl chr 1:1,471,765...1,497,848 		JBrowse link
G ATAD3C ATPase family AAA domain containing 3C IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,449,689...1,470,163
Ensembl chr 1:1,449,689...1,470,163 		JBrowse link
G AURKAIP1 aurora kinase A interacting protein 1 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,373,736...1,375,207
Ensembl chr 1:1,373,730...1,375,207 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G C1orf159 chromosome 1 open reading frame 159 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,081,823...1,116,089
Ensembl chr 1:1,081,818...1,116,361 		JBrowse link
G C1QTNF12 C1q and TNF related 12 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,242,453...1,247,280
Ensembl chr 1:1,242,446...1,246,722 		JBrowse link
G CALML6 calmodulin like 6 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,915,260...1,917,296
Ensembl chr 1:1,915,108...1,917,296 		JBrowse link
G CCDC27 coiled-coil domain containing 27 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:3,752,450...3,771,645
Ensembl chr 1:3,746,460...3,771,645 		JBrowse link
G CCNL2 cyclin L2 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,385,711...1,399,335
Ensembl chr 1:1,385,711...1,399,335 		JBrowse link
G CDK11A cyclin dependent kinase 11A IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,702,379...1,724,357
Ensembl chr 1:1,702,379...1,724,357 		JBrowse link
G CDK11B cyclin dependent kinase 11B IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,635,225...1,659,004
Ensembl chr 1:1,635,225...1,659,012 		JBrowse link
G CEP104 centrosomal protein 104 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 OMIM
ClinVar		 PMID:9536098 PMID:9683594 PMID:10862081 PMID:17576681 PMID:19492091 More... NCBI chr 1:3,812,086...3,857,211
Ensembl chr 1:3,812,086...3,857,396 		JBrowse link
G CFAP74 cilia and flagella associated protein 74 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,921,957...2,003,786
Ensembl chr 1:1,921,951...2,003,837 		JBrowse link
G CPTP ceramide-1-phosphate transfer protein IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,324,802...1,328,896
Ensembl chr 1:1,324,756...1,328,896 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418 		JBrowse link
G FAAP20 FA core complex associated protein 20 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:2,184,477...2,212,720
Ensembl chr 1:2,184,461...2,212,720 		JBrowse link
G FNDC10 fibronectin type III domain containing 10 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,598,012...1,600,135
Ensembl chr 1:1,598,012...1,600,135 		JBrowse link
G GABRD gamma-aminobutyric acid type A receptor subunit delta IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758 		JBrowse link
G GNB1 G protein subunit beta 1 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,892,292 		JBrowse link
G HES4 hes family bHLH transcription factor 4 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:998,964...1,000,097
Ensembl chr 1:998,962...1,000,172 		JBrowse link
G HES5 hes family bHLH transcription factor 5 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:2,528,745...2,530,263
Ensembl chr 1:2,528,745...2,530,263 		JBrowse link
G INTS11 integrator complex subunit 11 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,311,600...1,324,660
Ensembl chr 1:1,311,585...1,324,687 		JBrowse link
G ISG15 ISG15 ubiquitin like modifier IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,013,497...1,014,540
Ensembl chr 1:1,001,138...1,014,540 		JBrowse link
G KLHL17 kelch like family member 17 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:960,584...965,719
Ensembl chr 1:960,584...965,719 		JBrowse link
G LOC126805586 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:3745882-3747081 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:3,829,318...3,830,517 JBrowse link
G LOC126805587 BRD4-independent group 4 enhancer GRCh37_chr1:3747165-3748364 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:25741868 PMID:26477546 PMID:28492532 NCBI chr 1:3,830,601...3,831,800 JBrowse link
G LRRC47 leucine rich repeat containing 47 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:3,778,559...3,796,498
Ensembl chr 1:3,778,559...3,796,498 		JBrowse link
G MEGF6 multiple EGF like domains 6 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:3,487,951...3,624,786
Ensembl chr 1:3,487,951...3,611,508 		JBrowse link
G MIB2 MIB E3 ubiquitin protein ligase 2 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,613,731...1,630,605
Ensembl chr 1:1,615,454...1,630,605 		JBrowse link
G MIR200A microRNA 200a IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,167,863...1,167,952
Ensembl chr 1:1,167,863...1,167,952 		JBrowse link
G MIR200B microRNA 200b IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,167,104...1,167,198
Ensembl chr 1:1,167,104...1,167,198 		JBrowse link
G MIR429 microRNA 429 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,169,005...1,169,087
Ensembl chr 1:1,169,005...1,169,087 		JBrowse link
G MIR551A microRNA 551a IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:3,560,695...3,560,790
Ensembl chr 1:3,560,695...3,560,790 		JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:2,590,639...2,633,016
Ensembl chr 1:2,590,639...2,633,016 		JBrowse link
G MMP23B matrix metallopeptidase 23B IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,632,173...1,634,654
Ensembl chr 1:1,632,163...1,635,263 		JBrowse link
G MORN1 MORN repeat containing 1 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:2,321,253...2,391,554
Ensembl chr 1:2,321,253...2,391,707 		JBrowse link
G MRPL20 mitochondrial ribosomal protein L20 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,401,909...1,407,293
Ensembl chr 1:1,401,909...1,407,293 		JBrowse link
G MXRA8 matrix remodeling associated 8 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,352,689...1,363,541
Ensembl chr 1:1,352,689...1,361,777 		JBrowse link
G NADK NAD kinase IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,751,232...1,780,514
Ensembl chr 1:1,751,232...1,780,457 		JBrowse link
G NOC2L NOC2 like nucleolar associated transcriptional repressor IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:944,203...959,256
Ensembl chr 1:944,203...959,309 		JBrowse link
G PANK4 pantothenate kinase 4 (inactive) IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:2,508,537...2,526,596
Ensembl chr 1:2,508,537...2,526,597 		JBrowse link
G PEX10 peroxisomal biogenesis factor 10 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797 		JBrowse link
G PLCH2 phospholipase C eta 2 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:2,415,943...2,505,532
Ensembl chr 1:2,425,980...2,505,532 		JBrowse link
G PLEKHN1 pleckstrin homology domain containing N1 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:966,482...975,865
Ensembl chr 1:966,482...975,865 		JBrowse link
G PRDM16 PR/SET domain 16 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621 		JBrowse link
G PRKCZ protein kinase C zeta IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395 		JBrowse link
G PRXL2B peroxiredoxin like 2B IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:2,586,523...2,591,468
Ensembl chr 1:2,586,491...2,591,469 		JBrowse link
G PUSL1 pseudouridine synthase like 1 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,308,597...1,311,677
Ensembl chr 1:1,308,597...1,311,677 		JBrowse link
G RER1 retention in endoplasmic reticulum sorting receptor 1 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:2,391,841...2,405,436
Ensembl chr 1:2,391,775...2,405,442 		JBrowse link
G RNF223 ring finger protein 223 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,070,967...1,074,306
Ensembl chr 1:1,070,967...1,074,306 		JBrowse link
G SAMD11 sterile alpha motif domain containing 11 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:923,923...944,574
Ensembl chr 1:923,923...944,575 		JBrowse link
G SCNN1D sodium channel epithelial 1 subunit delta IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,280,436...1,292,025
Ensembl chr 1:1,280,436...1,292,029 		JBrowse link
G SDF4 stromal cell derived factor 4 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,216,931...1,232,001
Ensembl chr 1:1,216,931...1,232,031 		JBrowse link
G SKI SKI proto-oncogene IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213 		JBrowse link
G SLC35E2A solute carrier family 35 member E2A (pseudogene) IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,727,385...1,746,070
Ensembl chr 1:1,734,690...1,739,557 		JBrowse link
G SLC35E2B solute carrier family 35 member E2B IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,661,478...1,692,795
Ensembl chr 1:1,659,529...1,692,795 		JBrowse link
G SMIM1 small integral membrane protein 1 (Vel blood group) IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:3,772,749...3,775,956
Ensembl chr 1:3,772,749...3,775,982 		JBrowse link
G SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,541,673...1,574,863
Ensembl chr 1:1,541,673...1,574,863 		JBrowse link
G TAS1R3 taste 1 receptor member 3 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,331,280...1,335,314
Ensembl chr 1:1,331,280...1,335,314 		JBrowse link
G TMEM240 transmembrane protein 240 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,534,778...1,540,624
Ensembl chr 1:1,534,778...1,540,624 		JBrowse link
G TMEM52 transmembrane protein 52 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,917,591...1,919,279
Ensembl chr 1:1,917,590...1,919,279 		JBrowse link
G TMEM88B transmembrane protein 88B IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,425,871...1,430,255
Ensembl chr 1:1,425,871...1,430,255 		JBrowse link
G TNFRSF14 TNF receptor superfamily member 14 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:2,554,234...2,563,829
Ensembl chr 1:2,555,639...2,565,382 		JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,203,508...1,206,592
Ensembl chr 1:1,203,508...1,206,592 		JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,211,340...1,214,153
Ensembl chr 1:1,211,326...1,214,153 		JBrowse link
G TP73 tumor protein p73 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201 		JBrowse link
G TPRG1L tumor protein p63 regulated 1 like IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:3,625,015...3,630,127
Ensembl chr 1:3,625,015...3,630,127 		JBrowse link
G TTC34 tetratricopeptide repeat domain 34 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:2,636,986...2,801,693
Ensembl chr 1:2,636,986...2,801,693 		JBrowse link
G TTLL10 tubulin tyrosine ligase like 10 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,173,880...1,197,936
Ensembl chr 1:1,173,880...1,197,936 		JBrowse link
G UBE2J2 ubiquitin conjugating enzyme E2 J2 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,253,912...1,273,854
Ensembl chr 1:1,253,909...1,273,864 		JBrowse link
G VWA1 von Willebrand factor A domain containing 1 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,435,690...1,442,882
Ensembl chr 1:1,434,861...1,442,882 		JBrowse link
G WRAP73 WD repeat containing, antisense to TP73 IAGP ClinVar Annotator: match by term: Joubert syndrome 25 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:3,630,770...3,650,103
Ensembl chr 1:3,630,767...3,652,761 		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
ISS		 ClinVar Annotator: match by term: Joubert syndrome 26
ClinVar Annotator: match by term: Joubert syndrome 26 | ClinVar Annotator: match by term: KATNIP-related condition
OMIM:616784		 ClinVar
MouseDO
OMIM		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26714646 PMID:27245168 More... NCBI chr16:27,550,144...27,780,344
Ensembl chr16:27,550,133...27,780,344 		JBrowse link
G LOC100128079 uncharacterized LOC100128079 IAGP ClinVar Annotator: match by term: KATNIP-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr16:27,708,421...27,719,029 JBrowse link
G LOC126862323 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:27780758-27781957 IAGP ClinVar Annotator: match by term: Joubert syndrome 26
ClinVar Annotator: match by term: KATNIP-related condition		 ClinVar PMID:25741868 PMID:28492532 NCBI chr16:27,769,437...27,770,636 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:9536098 PMID:17576681 PMID:21493627 PMID:24886560 PMID:25741868 More... NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193 		JBrowse link
G LOC130060455 ATAC-STARR-seq lymphoblastoid silent region 8288 IAGP ClinVar Annotator: match by term: Joubert syndrome 27 ClinVar PMID:25741868 NCBI chr17:19,362,363...19,362,632 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:9536098 PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 More... NCBI chr17:58,205,441...58,219,255
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
ISS
EXP
ISO		 DNA:mutations:exon, intron:multiple
ClinVar Annotator: match by term: Joubert syndrome 3
OMIM:608629
CTD Direct Evidence: marker/mechanism
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
MouseDO
CTD
OMIM
RGD		 PMID:9536098 PMID:15322546 PMID:16155189 PMID:16199547 PMID:16240161 More... RGD:1598905, RGD:11537395, RGD:11537390, RGD:11537388, RGD:11343130, RGD:11537387, RGD:1304518, RGD:11537346 NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434 		JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 IAGP ClinVar Annotator: match by term: Joubert syndrome 3 ClinVar PMID:19439420 PMID:21214876 PMID:21541746 PMID:24519355 PMID:25326637 More... NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP ClinVar Annotator: match by term: Joubert syndrome 3 ClinVar PMID:21340158 PMID:21387466 PMID:22585553 PMID:24033266 PMID:25741868 More... NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345 		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 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:28492532 More... NCBI chr 2:231,198,631...231,376,848
Ensembl chr 2:231,198,546...231,376,848 		JBrowse link
G LOC122861306 Sharpr-MPRA regulatory region 9410 IAGP ClinVar Annotator: match by term: Joubert syndrome 30 ClinVar PMID:16199547 PMID:25741868 PMID:28492532 PMID:28625504 NCBI chr 2:231,360,497...231,361,312 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:9536098 PMID:17576681 PMID:25741868 PMID:27208211 PMID:28492532 NCBI chr 5:123,344,892...123,423,842
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 LOC130004614 ATAC-STARR-seq lymphoblastoid silent region 2764 IAGP ClinVar Annotator: match by term: Joubert syndrome 32 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:102,503,788...102,504,257 JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP ClinVar Annotator: match by term: Joubert syndrome 32 ClinVar
OMIM		 PMID:16199547 PMID:22508808 PMID:25741868 PMID:27930734 PMID:28492532 More... NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...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 OMIM
ClinVar		 PMID:25741868 PMID:26167768 PMID:28492532 PMID:29695797 PMID:30858804 More... 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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 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 DNAJC9 DnaJ heat shock protein family (Hsp40) member C9 IAGP ClinVar Annotator: match by term: Joubert syndrome 36 ClinVar PMID:25741868 NCBI chr10:73,232,272...73,247,255
Ensembl chr10:73,183,362...73,247,255 		JBrowse link
G FAM149B1 family with sequence similarity 149 member B1 IAGP ClinVar Annotator: match by term: Joubert syndrome 36 OMIM
ClinVar		 PMID:25741868 PMID:30905400 NCBI chr10:73,168,119...73,244,504
Ensembl chr10:73,168,119...73,244,504 		JBrowse link
G TBC1D32 TBC1 domain family member 32 IAGP ClinVar Annotator: match by term: Joubert syndrome 36 ClinVar PMID:25741868 NCBI chr 6:121,079,494...121,334,729
Ensembl chr 6:121,079,494...121,334,745 		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 IAGP ClinVar Annotator: match by term: Joubert syndrome 37 OMIM
ClinVar		 PMID:25741868 PMID:32453716 PMID:32747439 NCBI chr14:44,962,190...45,074,431
Ensembl chr14:44,962,190...45,074,431 		JBrowse link
Joubert Syndrome 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIAA0753 KIAA0753 IAGP ClinVar Annotator: match by term: Joubert syndrome 38 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26643951 PMID:28220259 More... NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711 		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 IAGP ClinVar Annotator: match by term: Joubert syndrome 39 OMIM
ClinVar		 PMID:25741868 PMID:33791682 PMID:35137054 NCBI chr11:125,094,389...125,111,626
Ensembl chr11:125,094,389...125,111,763 		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...135,497,740
Ensembl chr 6:135,283,407...135,498,434 		JBrowse link
G LOC126806306 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:110906815-110908014 IAGP ClinVar Annotator: match by term: Joubert syndrome 4 ClinVar PMID:8852662 PMID:9326933 PMID:9856524 PMID:10712196 PMID:15138899 More... NCBI chr 2:110,149,238...110,150,437 JBrowse link
G MALL mal, T cell differentiation protein like IAGP ClinVar Annotator: match by term: Joubert syndrome 4 ClinVar PMID:25741868 NCBI chr 2:110,083,870...110,118,139
Ensembl chr 2:110,083,870...110,116,022 		JBrowse link
G NPHP1 nephrocystin 1 IAGP
EXP		 associated with Kidney Diseases, Cystic;DNA:mutation
ClinVar Annotator: match by term: Joubert syndrome 4
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 More... 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 1:5,862,811...5,992,425
Ensembl chr 1:5,862,811...5,992,473 		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 IAGP ClinVar Annotator: match by term: Joubert syndrome 40 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31690835 PMID:33531668 PMID:34539760 NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134 		JBrowse link
Joubert syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP290 centrosomal protein 290 IAGP
ISS
EXP		 DNA:deletions, insertion: :multiple
ClinVar Annotator: match by term: Joubert syndrome 5
OMIM:610188
CTD Direct Evidence: marker/mechanism
DNA:SNPs:multiple (human)
DNA:frameshift mutations, nonsense mutations:CDS:multiple (human)
DNA:deletions, nonsense mutations, splice-site mutations:exon, intron:multiple 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... RGD:7246903, RGD:329902080, RGD:329853747, RGD:11537352 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G LOC129390514 MPRA-validated peak1864 silencer IAGP ClinVar Annotator: match by term: Joubert syndrome 5 ClinVar PMID:16909394 PMID:17345604 PMID:17564967 PMID:20690115 PMID:21866095 More... NCBI chr12:88,062,639...88,062,839 JBrowse link
G RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 IAGP ClinVar Annotator: match by term: Joubert syndrome 5 ClinVar PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 More... NCBI chr12:88,035,536...88,050,160
Ensembl chr12:88,033,846...88,050,160 		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
ISS
EXP		 DNA:missense mutations, splice-site mutations: :multiple
ClinVar Annotator: match by term: Joubert syndrome 6
OMIM:610688
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:2929661 PMID:8862632 PMID:9375913 PMID:9536098 PMID:10567047 More... 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 LOC130059035 ATAC-STARR-seq lymphoblastoid silent region 7502 IAGP ClinVar Annotator: match by term: Joubert syndrome 7 ClinVar NCBI chr16:53,703,769...53,703,818 JBrowse link
G PKD2 polycystin 2, transient receptor potential cation channel IAGP ClinVar Annotator: match by term: Joubert syndrome 7 ClinVar PMID:19936001 PMID:25741868 PMID:28492532 NCBI chr 4:88,007,635...88,077,777
Ensembl chr 4:88,007,635...88,077,777 		JBrowse link
G RPGRIP1 RPGR interacting protein 1 IAGP ClinVar Annotator: match by term: Joubert syndrome 7 ClinVar NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP
ISS
EXP		 DNA:missense mutations, splice-site mutation:exon, intron:multiple
ClinVar Annotator: match by term: Joubert syndrome 7
OMIM:611560
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 More... 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
EXP		 DNA:missense mutations, nonsense mutation:p.R79Q, p.R200C, p.W82X (human)
ClinVar Annotator: match by term: Joubert syndrome 8
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18674751 PMID:23150559 More... RGD:11553937 NCBI chr 3:93,980,155...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...94,063,320
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 		JBrowse link
G STX19 syntaxin 19 IAGP ClinVar Annotator: match by term: Joubert syndrome 8 ClinVar PMID:28492532 NCBI chr 3:94,014,365...94,028,597
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 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A no_association IAGP
EXP		 DNA:mutations: :multiple
ClinVar Annotator: match by term: Joubert syndrome 9
ClinVar Annotator: match by term: Joubert syndrome 9/15, digenic
CTD Direct Evidence: marker/mechanism
DNA:splice-site mutation:intron:IVS19+1G>C (human)		 ClinVar
CTD
OMIM
RGD		 PMID:3631907 PMID:8253763 PMID:9536098 PMID:16199547 PMID:17576681 More... RGD:11062645, RGD:11062645, RGD:11535976 NCBI chr 4:15,469,865...15,601,557
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:25741868 PMID:28492532 PMID:30664616 NCBI chr 7:130,393,771...130,441,741
Ensembl chr 7:130,393,771...130,442,433 		JBrowse link
G OXTR oxytocin receptor IAGP ClinVar Annotator: match by term: Joubert syndrome 9 ClinVar NCBI chr 3:8,741,269...8,769,613
Ensembl chr 3:8,750,381...8,769,628 		JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 IAGP ClinVar Annotator: match by term: Joubert syndrome 9 ClinVar PMID:10766140 PMID:16123440 PMID:19431183 PMID:24265693 PMID:25741868 More... NCBI chr 1:68,428,822...68,449,954
Ensembl chr 1:68,428,822...68,451,103 		JBrowse link
G SMAD6 SMAD family member 6 IAGP ClinVar Annotator: match by term: Joubert syndrome 9 ClinVar NCBI chr15:66,702,236...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 complex subunit 1 IAGP
EXP		 ClinVar Annotator: match by term: OFDS VI | ClinVar Annotator: match by term: Orofaciodigital syndrome VI
ClinVar Annotator: match by term: OFDS VI | ClinVar Annotator: match by term: Orofaciodigital syndrome VI | ClinVar Annotator: match by term: Varadi-Papp syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20301500 More... NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376 		JBrowse link
Meckel Syndrome 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 Annotator: match by term: Joubert syndrome 34		 ClinVar
OMIM		 PMID:21763481 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28771248 More... NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP ClinVar Annotator: match by term: Meckel syndrome, type 10 ClinVar PMID:16207846 PMID:17293864 PMID:18292811 PMID:18424453 PMID:25741868 More... NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
nephronophthisis 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129935046 ATAC-STARR-seq lymphoblastoid active region 16728 IAGP ClinVar Annotator: match by term: Nephronophthisis 12 ClinVar NCBI chr 2:165,874,554...165,874,753 JBrowse link
G TTC21B tetratricopeptide repeat domain 21B IAGP
EXP		 ClinVar Annotator: match by term: Nephronophthisis 12
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18327258 PMID:18414213 More... NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851 		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 More... 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 ADCY7 adenylate cyclase 7 IAGP ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:28492532 NCBI chr16:50,244,699...50,318,135
Ensembl chr16:50,246,137...50,318,135 		JBrowse link
G BRD7 bromodomain containing 7 IAGP ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:28492532 NCBI chr16:50,315,957...50,368,988
Ensembl chr16:50,313,487...50,368,988 		JBrowse link
G CNEP1R1 CTD nuclear envelope phosphatase 1 regulatory subunit 1 IAGP ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:28492532 NCBI chr16:50,025,225...50,037,081
Ensembl chr16:50,024,410...50,037,088 		JBrowse link
G CYLD CYLD lysine 63 deubiquitinase IAGP ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:28492532 NCBI chr16:50,742,086...50,801,935
Ensembl chr16:50,742,050...50,801,935 		JBrowse link
G HEATR3 HEAT repeat containing 3 IAGP ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:28492532 NCBI chr16:50,065,970...50,107,272
Ensembl chr16:50,065,967...50,107,272 		JBrowse link
G NKD1 NKD inhibitor of WNT signaling pathway 1 IAGP ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:28492532 NCBI chr16:50,548,396...50,649,249
Ensembl chr16:50,548,396...50,649,249 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 IAGP ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:28492532 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077 		JBrowse link
G SALL1 spalt like transcription factor 1 IAGP ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:28492532 NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334 		JBrowse link
G SNX20 sorting nexin 20 IAGP ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:28492532 NCBI chr16:50,666,300...50,681,312
Ensembl chr16:50,666,300...50,681,353 		JBrowse link
G TENT4B terminal nucleotidyltransferase 4B IAGP ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:28492532 NCBI chr16:50,152,911...50,235,310
Ensembl chr16:50,152,911...50,235,310 		JBrowse link
G ZNF423 zinc finger protein 423 IAGP
EXP		 ClinVar Annotator: match by term: Nephronophthisis 14
ClinVar Annotator: match by term: Nephronophthisis 14 | ClinVar Annotator: match by term: ZNF423-related condition
ClinVar Annotator: match by term: Joubert syndrome 19
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:22863007 PMID:25741868 PMID:26539891 More... NCBI chr16:49,487,524...49,859,279
Ensembl chr16:49,487,524...49,857,919 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35754
    syndrome 18145
      ciliopathy 1361
        Joubert syndrome 488
          JOUBERT SYNDROME 35 1
          Joubert Syndrome 12 1
          Joubert Syndrome 13 2
          Joubert Syndrome 16 1
          Joubert Syndrome 17 9
          Joubert Syndrome 18 2
          Joubert Syndrome 2 1
          Joubert Syndrome 26 3
          Joubert Syndrome 27 2
          Joubert Syndrome 28 1
          Joubert Syndrome 36 3
          Joubert Syndrome 37 1
          Joubert Syndrome 38 1
          Joubert Syndrome 39 1
          Joubert Syndrome 40 1
          Joubert syndrome 1 274
          Joubert syndrome 10 2
          Joubert syndrome 14 7
          Joubert syndrome 15 1
          Joubert syndrome 20 9
          Joubert syndrome 21 9
          Joubert syndrome 22 57
          Joubert syndrome 23 5
          Joubert syndrome 24 2
          Joubert syndrome 25 78
          Joubert syndrome 29 0
          Joubert syndrome 3 3
          Joubert syndrome 30 2
          Joubert syndrome 31 1
          Joubert syndrome 32 2
          Joubert syndrome 33 1
          Joubert syndrome 4 5
          Joubert syndrome 5 3
          Joubert syndrome 6 1
          Joubert syndrome 7 4
          Joubert syndrome 8 5
          Joubert syndrome 9 6
          Joubert syndrome with orofaciodigital defect 1
          Meckel Syndrome 10 2
          nephronophthisis 12 3
          nephronophthisis 14 11
Path 2
Term Annotations click to browse term
  disease 35754
    Developmental Disease 28610
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 24646
        genetic disease 23840
          monogenic disease 18586
            ciliopathy 1361
              Joubert syndrome 488
                JOUBERT SYNDROME 35 1
                Joubert Syndrome 12 1
                Joubert Syndrome 13 2
                Joubert Syndrome 16 1
                Joubert Syndrome 17 9
                Joubert Syndrome 18 2
                Joubert Syndrome 2 1
                Joubert Syndrome 26 3
                Joubert Syndrome 27 2
                Joubert Syndrome 28 1
                Joubert Syndrome 36 3
                Joubert Syndrome 37 1
                Joubert Syndrome 38 1
                Joubert Syndrome 39 1
                Joubert Syndrome 40 1
                Joubert syndrome 1 274
                Joubert syndrome 10 2
                Joubert syndrome 14 7
                Joubert syndrome 15 1
                Joubert syndrome 20 9
                Joubert syndrome 21 9
                Joubert syndrome 22 57
                Joubert syndrome 23 5
                Joubert syndrome 24 2
                Joubert syndrome 25 78
                Joubert syndrome 29 0
                Joubert syndrome 3 3
                Joubert syndrome 30 2
                Joubert syndrome 31 1
                Joubert syndrome 32 2
                Joubert syndrome 33 1
                Joubert syndrome 4 5
                Joubert syndrome 5 3
                Joubert syndrome 6 1
                Joubert syndrome 7 4
                Joubert syndrome 8 5
                Joubert syndrome 9 6
                Joubert syndrome with orofaciodigital defect 1
                Meckel Syndrome 10 2
                nephronophthisis 12 3
                nephronophthisis 14 11
paths to the root