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Joubert syndrome 1 - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Joubert syndrome 1
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Accession:DOID:0110980 term browser browse the term
Definition:A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34. (DO)
Synonyms:exact_synonym: CORS1;   CPD4;   Cerebello-Oculo-Renal Syndrome;   Cerebellooculorenal syndrome 1;   Cerebelloparenchymal disorder 4;   JBTS1;   Joubert-Boltshauser syndrome;   agenesis of cerebellar vermis;   cerebellar vermis agenesis;   cerebelloparenchymal disorder IV;   familial aplasia of the vermis
 broad_synonym: INPP5E-RELATED CONDITION
 primary_id: MESH:C536293
 alt_id: MIM:213300

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Joubert syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1700017N19Rik RIKEN cDNA 1700017N19 gene ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16682973 PMID:16909394 PMID:19764032 PMID:23954617 PMID:27821535 More... NCBI chr10:100,426,346...100,454,257
Ensembl chr10:100,426,346...100,454,263 		JBrowse link
G 2700049A03Rik RIKEN cDNA 2700049A03 gene ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:20301500 PMID:24033266 PMID:25741868 PMID:25807282 PMID:26026149 More... NCBI chr12:71,183,627...71,356,273
Ensembl chr12:71,183,622...71,290,077 		JBrowse link
G Abca2 ATP-binding cassette, sub-family A member 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,318,611...25,338,556
Ensembl chr 2:25,318,715...25,338,552 		JBrowse link
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:26,483,069...26,494,429
Ensembl chr 2:26,483,069...26,494,429 		JBrowse link
G Ahi1 Abelson helper integration site 1 ISO 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 PMID:3196484 PMID:9536098 PMID:15322546 PMID:16155189 PMID:16199547 More... NCBI chr10:20,827,274...20,956,328
Ensembl chr10:20,828,446...20,956,328 		JBrowse link
G Ajm1 apical junction component 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,465,428...25,471,760
Ensembl chr 2:25,465,428...25,471,769 		JBrowse link
G Akap1 A kinase anchor protein 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:88,721,618...88,755,426
Ensembl chr11:88,721,618...88,755,412 		JBrowse link
G Aldh3a2 aldehyde dehydrogenase family 3, subfamily A2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:61,114,240...61,158,267
Ensembl chr11:61,114,243...61,158,290 		JBrowse link
G Alkbh5 alkB homolog 5, RNA demethylase ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:60,428,509...60,449,338
Ensembl chr11:60,427,207...60,449,338 		JBrowse link
G Anapc2 anaphase promoting complex subunit 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,162,469...25,175,928
Ensembl chr 2:25,162,490...25,175,927 		JBrowse link
G Appbp2 amyloid beta precursor protein binding protein 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:85,082,134...85,125,946
Ensembl chr11:85,078,088...85,125,956 		JBrowse link
G Arl13b ADP-ribosylation factor-like 13B ISO 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 chr16:62,613,671...62,667,418
Ensembl chr16:62,614,048...62,667,403 		JBrowse link
G Armc9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:28492532 PMID:28625504 PMID:31474318 PMID:39033378 NCBI chr 1:86,082,436...86,207,491
Ensembl chr 1:86,082,502...86,206,006 		JBrowse link
G Arrdc1 arrestin domain containing 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:24,815,364...24,825,347
Ensembl chr 2:24,815,364...24,825,264 		JBrowse link
G Atp6v0a2 ATPase, H+ transporting, lysosomal V0 subunit A2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:26092869 PMID:28492532 NCBI chr 5:124,767,117...124,801,519
Ensembl chr 5:124,766,641...124,801,519 		JBrowse link
G Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:60,291,450...60,309,427
Ensembl chr11:60,291,452...60,309,283 		JBrowse link
G B9d1 B9 protein domain 1 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome 		ClinVar PMID:9536098 PMID:16007087 PMID:16199547 PMID:17576681 PMID:21493627 More... NCBI chr11:61,395,970...61,403,757
Ensembl chr11:61,395,970...61,403,757 		JBrowse link
G B9d2 B9 protein domain 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:21763481 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28771248 More... NCBI chr 7:25,380,205...25,385,987
Ensembl chr 7:25,380,205...25,385,983 		JBrowse link
G Bcas3 BCAS3 microtubule associated cell migration factor ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:85,243,611...85,716,884
Ensembl chr11:85,243,993...85,716,884 		JBrowse link
G Brip1 BRCA1 interacting protein C-terminal helicase 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:85,948,957...86,092,041
Ensembl chr11:85,948,964...86,092,019 		JBrowse link
G Bst1 bone marrow stromal cell antigen 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr 5:43,976,235...44,000,810
Ensembl chr 5:43,976,227...44,001,328 		JBrowse link
G C2cd3 C2 calcium-dependent domain containing 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar PMID:24997988 PMID:25741868 PMID:26092869 PMID:28492532 NCBI chr 7:100,021,440...100,119,366
Ensembl chr 7:100,021,440...100,119,359 		JBrowse link
G C8g complement component 8, gamma polypeptide ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,388,662...25,391,731
Ensembl chr 2:25,388,663...25,391,731 		JBrowse link
G Cacna1b calcium channel, voltage-dependent, N type, alpha 1B subunit ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:24,493,872...24,653,210
Ensembl chr 2:24,493,899...24,653,164 		JBrowse link
G Camsap1 calmodulin regulated spectrin-associated protein 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,816,850...25,873,574
Ensembl chr 2:25,816,850...25,873,294 		JBrowse link
G Car4 carbonic anhydrase 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:84,848,580...84,856,880
Ensembl chr11:84,848,612...84,856,870 		JBrowse link
G Card9 caspase recruitment domain family, member 9 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:15786477 PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 2:26,242,199...26,250,957
Ensembl chr 2:26,242,188...26,250,930 		JBrowse link
G Cby1 chibby family member 1, beta catenin antagonist ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:33131181 NCBI chr15:79,543,437...79,551,861
Ensembl chr15:79,543,400...79,551,861 		JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar 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:3196484 PMID:3631907 PMID:8253763 PMID:9536098 PMID:16199547 More... NCBI chr 5:43,819,715...43,898,317
Ensembl chr 5:43,819,688...43,898,314 		JBrowse link
G Ccdc183 coiled-coil domain containing 183 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,498,641...25,507,690
Ensembl chr 2:25,498,647...25,507,690 		JBrowse link
G Cd38 CD38 antigen ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr 5:44,026,153...44,069,714
Ensembl chr 5:44,025,895...44,069,717 		JBrowse link
G Cep104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 NCBI chr 4:154,059,649...154,093,189
Ensembl chr 4:154,059,651...154,093,189 		JBrowse link
G Cep290 centrosomal protein 290 ISO 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: 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 Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | 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 PMID:3253185 PMID:3442652 PMID:9536098 PMID:16199547 PMID:16682970 More... NCBI chr10:100,323,410...100,409,527
Ensembl chr10:100,323,420...100,410,702 		JBrowse link
G Cep41 centrosomal protein 41 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:30,653,456...30,710,511
Ensembl chr 6:30,653,456...30,693,748 		JBrowse link
G Chct1 CHD1 helical C-terminal domain containing 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:85,031,023...85,072,042
Ensembl chr11:85,061,230...85,071,971 		JBrowse link
G Cimip2a ciliary microtubule inner protein 2A ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,104,382...25,112,293
Ensembl chr 2:25,108,757...25,112,292 		JBrowse link
G Clic3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,346,855...25,348,789
Ensembl chr 2:25,346,850...25,348,788 		JBrowse link
G Cltc clathrin heavy chain ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:86,585,178...86,648,637
Ensembl chr11:86,585,177...86,648,391 		JBrowse link
G Cluap1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 PMID:28679688 NCBI chr16:3,725,058...3,760,163
Ensembl chr16:3,726,665...3,759,011 		JBrowse link
G Coil coilin ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:88,864,761...88,882,439
Ensembl chr11:88,861,078...88,882,439 		JBrowse link
G Cops3 COP9 signalosome subunit 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:59,708,621...59,739,080
Ensembl chr11:59,708,621...59,730,664 		JBrowse link
G Cplane1 ciliogenesis and planar polarity effector 1 ISO 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 chr15:8,198,509...8,300,642
Ensembl chr15:8,198,590...8,300,642 		JBrowse link
G Cpsf7 cleavage and polyadenylation specific factor 7 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr19:10,502,594...10,525,099
Ensembl chr19:10,502,630...10,525,017 		JBrowse link
G Cuedc1 CUE domain containing 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:87,989,972...88,084,966
Ensembl chr11:87,988,884...88,084,966 		JBrowse link
G Cyb561a3 cytochrome b561 family, member A3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 NCBI chr19:10,554,521...10,574,196
Ensembl chr19:10,554,536...10,573,325 		JBrowse link
G Cysrt1 cysteine rich tail 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,128,831...25,129,876
Ensembl chr 2:25,128,830...25,132,464 		JBrowse link
G Dgke diacylglycerol kinase, epsilon ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:88,926,005...88,951,644
Ensembl chr11:88,926,005...88,957,676 		JBrowse link
G Dhx40 DEAH-box helicase 40 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:86,659,675...86,698,695
Ensembl chr11:86,659,672...86,698,572 		JBrowse link
G Dipk1b divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:26,518,469...26,526,509
Ensembl chr 2:26,518,469...26,526,509 		JBrowse link
G Dnlz DNL-type zinc finger ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:26,238,130...26,242,122
Ensembl chr 2:26,238,133...26,242,122 		JBrowse link
G Dph7 diphthamine biosynethesis 7 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:24,852,183...24,862,198
Ensembl chr 2:24,852,412...24,862,175 		JBrowse link
G Dpp7 dipeptidylpeptidase 7 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,242,302...25,246,365
Ensembl chr 2:25,242,288...25,246,371 		JBrowse link
G Drc3 dynein regulatory complex subunit 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:60,243,063...60,285,168
Ensembl chr11:60,244,155...60,285,167 		JBrowse link
G Drg2 developmentally regulated GTP binding protein 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:60,345,442...60,359,589
Ensembl chr11:60,345,417...60,359,580 		JBrowse link
G Dynll2 dynein light chain LC8-type 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:87,870,351...87,892,746
Ensembl chr11:87,870,351...87,878,359 		JBrowse link
G Edf1 endothelial differentiation-related factor 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,447,838...25,452,096
Ensembl chr 2:25,447,859...25,452,094 		JBrowse link
G Egfl6 EGF-like-domain, multiple 6 ISO 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:165,306,003...165,368,712
Ensembl chr  X:165,306,003...165,368,716 		JBrowse link
G Egfl7 EGF-like domain 7 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:26,471,095...26,482,694
Ensembl chr 2:26,470,026...26,483,132 		JBrowse link
G Ehmt1 euchromatic histone methyltransferase 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:24,680,781...24,809,658
Ensembl chr 2:24,679,940...24,809,626 		JBrowse link
G Eif2b1 eukaryotic translation initiation factor 2B, subunit alpha ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr 5:124,708,277...124,717,194
Ensembl chr 5:124,708,276...124,717,194 		JBrowse link
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,285,886...25,291,335
Ensembl chr 2:25,285,886...25,291,333 		JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:24,969,308...24,975,731
Ensembl chr 2:24,970,316...24,975,728 		JBrowse link
G Entr1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:15786477 PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 2:26,272,810...26,279,352
Ensembl chr 2:26,272,814...26,279,328 		JBrowse link
G Epn2 epsin 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:61,406,709...61,470,560
Ensembl chr11:61,408,075...61,470,513 		JBrowse link
G Epx eosinophil peroxidase ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:87,754,824...87,766,362
Ensembl chr11:87,754,826...87,766,362 		JBrowse link
G Exoc8 exocyst complex component 8 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:22700954 NCBI chr 8:125,617,038...125,624,444
Ensembl chr 8:125,619,847...125,624,444 		JBrowse link
G Fam149b family with sequence similarity 149, member B ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:30905400 NCBI chr14:20,398,221...20,433,559
Ensembl chr14:20,398,230...20,433,559 		JBrowse link
G Fam83g family with sequence similarity 83, member G ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:61,574,908...61,600,776
Ensembl chr11:61,574,917...61,600,777 		JBrowse link
G Fbxl5 F-box and leucine-rich repeat protein 5 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr 5:43,901,958...43,939,529
Ensembl chr 5:43,901,957...43,978,980 		JBrowse link
G Fbxw10 F-box and WD-40 domain protein 10 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:62,737,893...62,768,290
Ensembl chr11:62,737,895...62,768,291 		JBrowse link
G Fbxw5 F-box and WD-40 domain protein 5 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,390,762...25,395,482
Ensembl chr 2:25,390,762...25,395,483 		JBrowse link
G Fgfbp1 fibroblast growth factor binding protein 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr 5:44,136,200...44,139,173
Ensembl chr 5:44,136,200...44,139,121 		JBrowse link
G Flcn folliculin ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:59,682,234...59,706,138
Ensembl chr11:59,682,234...59,700,842 		JBrowse link
G Flii flightless I actin binding protein ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:60,604,969...60,618,089
Ensembl chr11:60,604,949...60,618,089 		JBrowse link
G Fto FTO alpha-ketoglutarate dependent dioxygenase ISO 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:25741868 PMID:28492532 NCBI chr 8:92,039,995...92,395,061
Ensembl chr 8:92,040,153...92,395,067 		JBrowse link
G Fut7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,312,363...25,316,386
Ensembl chr 2:25,313,279...25,316,386 		JBrowse link
G Gdpd1 glycerophosphodiester phosphodiesterase domain containing 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:86,924,620...86,964,963
Ensembl chr11:86,924,693...86,964,888 		JBrowse link
G Gid4 GID complex subunit 4, VID24 homolog ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:60,307,971...60,336,103
Ensembl chr11:60,307,971...60,341,753 		JBrowse link
G Glt6d1 glycosyltransferase 6 domain containing 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,673,474...25,705,908
Ensembl chr 2:25,683,871...25,705,860 		JBrowse link
G Gm525 predicted gene 525 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:88,957,346...88,983,890
Ensembl chr11:88,964,667...88,983,866 		JBrowse link
G Gpsm1 G-protein signalling modulator 1 (AGS3-like, C. elegans) ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:26,204,623...26,238,249
Ensembl chr 2:26,205,527...26,238,249 		JBrowse link
G Grap GRB2-related adaptor protein ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:61,544,081...61,563,610
Ensembl chr11:61,544,091...61,563,610 		JBrowse link
G Grin1 glutamate receptor, ionotropic, NMDA1 (zeta 1) ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,181,189...25,209,199
Ensembl chr 2:25,181,193...25,209,199 		JBrowse link
G Gtf2h3 general transcription factor IIH, polypeptide 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr 5:124,717,211...124,735,743
Ensembl chr 5:124,717,203...124,735,743 		JBrowse link
G Heatr6 HEAT repeat containing 6 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:83,644,463...83,674,580
Ensembl chr11:83,644,522...83,674,580 		JBrowse link
G Hsf5 heat shock transcription factor family member 5 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:87,507,225...87,550,715
Ensembl chr11:87,507,990...87,550,368 		JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:24140113 PMID:25741868 PMID:26092869 PMID:28492532 NCBI chr 5:31,410,623...31,448,458
Ensembl chr 5:31,410,621...31,448,460 		JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: 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 		OMIM
CTD
ClinVar		 PMID:9536098 PMID:10577920 PMID:15786477 PMID:16025100 PMID:16199547 More... NCBI chr 2:26,286,261...26,299,313
Ensembl chr 2:26,286,261...26,299,215 		JBrowse link
G Irx3 Iroquois related homeobox 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:17558409 PMID:28492532 NCBI chr 8:92,525,139...92,528,282
Ensembl chr 8:92,525,153...92,528,695 		JBrowse link
G Irx5 Iroquois homeobox 5 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:17558409 PMID:28492532 NCBI chr 8:93,084,424...93,088,084
Ensembl chr 8:93,084,253...93,102,914 		JBrowse link
G Irx6 Iroquois homeobox 6 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:17558409 PMID:28492532 NCBI chr 8:93,400,917...93,407,584
Ensembl chr 8:93,400,916...93,407,584 		JBrowse link
G Katnip katanin interacting protein ISO 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 chr 7:125,307,027...125,473,967
Ensembl chr 7:125,307,060...125,473,965 		JBrowse link
G Kcnt1 potassium channel, subfamily T, member 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,753,807...25,808,285
Ensembl chr 2:25,753,746...25,808,285 		JBrowse link
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:21633164 PMID:25741868 PMID:28492532 NCBI chr 7:79,347,846...79,365,520
Ensembl chr 7:79,347,846...79,365,468 		JBrowse link
G Kitl kit ligand ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:19764032 PMID:23954617 PMID:27821535 PMID:28492532 NCBI chr10:99,851,477...99,936,278
Ensembl chr10:99,851,492...99,936,278 		JBrowse link
G Lcn10 lipocalin 10 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,572,738...25,576,093
Ensembl chr 2:25,572,738...25,576,093 		JBrowse link
G Lcn11 lipocalin 11 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,667,029...25,670,291
Ensembl chr 2:25,667,029...25,670,291 		JBrowse link
G Lcn12 lipocalin 12 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,380,857...25,384,073
Ensembl chr 2:25,380,857...25,383,923 		JBrowse link
G Lcn15 lipocalin 15 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,534,156...25,538,813 JBrowse link
G Lcn3 lipocalin 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,655,545...25,658,110
Ensembl chr 2:25,655,581...25,658,111 		JBrowse link
G Lcn6 lipocalin 6 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,566,650...25,571,620
Ensembl chr 2:25,566,798...25,571,620 		JBrowse link
G Lcn8 lipocalin 8 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,543,130...25,546,229
Ensembl chr 2:25,543,132...25,546,229 		JBrowse link
G Lcn9 lipocalin 9 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,713,100...25,715,558
Ensembl chr 2:25,713,165...25,715,549 		JBrowse link
G Lhx3 LIM homeobox protein 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:26,090,224...26,098,261
Ensembl chr 2:26,090,224...26,098,301 		JBrowse link
G Llgl1 LLGL1 scribble cell polarity complex component ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:60,590,501...60,605,012
Ensembl chr11:60,590,549...60,605,012 		JBrowse link
G Lpo lactoperoxidase ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:87,697,254...87,716,750
Ensembl chr11:87,697,254...87,719,115 		JBrowse link
G Lrrc26 leucine rich repeat containing 26 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,179,923...25,181,205
Ensembl chr 2:25,179,927...25,181,192 		JBrowse link
G Lrrc34 leucine rich repeat containing 34 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar NCBI chr 3:30,678,416...30,701,967
Ensembl chr 3:30,678,416...30,702,018 		JBrowse link
G Mamdc4 MAM domain containing 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,453,124...25,461,328
Ensembl chr 2:25,453,127...25,464,857 		JBrowse link
G Man1b1 mannosidase, alpha, class 1B, member 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,222,742...25,242,225
Ensembl chr 2:25,222,350...25,242,224 		JBrowse link
G Mapk7 mitogen-activated protein kinase 7 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:61,379,638...61,385,101
Ensembl chr11:61,379,638...61,385,232 		JBrowse link
G Med9 mediator complex subunit 9 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:59,839,040...59,854,132
Ensembl chr11:59,839,032...59,853,031 		JBrowse link
G Mfap4 microfibrillar-associated protein 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:61,376,257...61,379,536
Ensembl chr11:61,376,257...61,379,726 		JBrowse link
G Micall2 MICAL-like 2 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar NCBI chr 5:139,692,447...139,722,088
Ensembl chr 5:139,692,451...139,722,091 		JBrowse link
G Mief2 mitochondrial elongation factor 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:60,619,224...60,623,777
Ensembl chr11:60,619,224...60,623,777 		JBrowse link
G Mir126a microRNA 126a ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:26,481,369...26,481,441
Ensembl chr 2:26,481,369...26,481,441 		JBrowse link
G Mir21a microRNA 21a ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar 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
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:9536098 PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 More... NCBI chr11:87,744,007...87,754,629
Ensembl chr11:87,744,041...87,754,629 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:17558409 PMID:28492532 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
G Mpo myeloperoxidase ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:87,684,610...87,695,238
Ensembl chr11:87,684,407...87,695,239 		JBrowse link
G Mprip myosin phosphatase Rho interacting protein ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:59,552,973...59,671,686
Ensembl chr11:59,552,131...59,671,686 		JBrowse link
G Mrpl41 mitochondrial ribosomal protein L41 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:24,862,482...24,865,110
Ensembl chr 2:24,864,129...24,865,110 		JBrowse link
G Mrps2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:28,355,963...28,361,189
Ensembl chr 2:28,358,078...28,361,190 		JBrowse link
G Mrps23 mitochondrial ribosomal protein S23 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:88,084,932...88,102,333
Ensembl chr11:88,095,214...88,102,333 		JBrowse link
G Msi2 musashi RNA-binding protein 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:88,230,208...88,609,197
Ensembl chr11:88,230,208...88,609,339 		JBrowse link
G Mtmr4 myotubularin related protein 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:87,482,769...87,507,128
Ensembl chr11:87,482,988...87,507,128 		JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:60,360,165...60,419,195
Ensembl chr11:60,360,165...60,419,195 		JBrowse link
G Nacc2 nucleus accumbens associated 2, BEN and BTB (POZ) domain containing ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,945,547...26,012,823
Ensembl chr 2:25,945,547...26,013,232 		JBrowse link
G Ndor1 NADPH dependent diflavin oxidoreductase 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,134,825...25,145,458
Ensembl chr 2:25,134,833...25,146,034
Ensembl chr 2:25,134,833...25,146,034
Ensembl chr 2:25,134,833...25,146,034 		JBrowse link
G Nelfb negative elongation factor complex member B ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,089,724...25,101,501
Ensembl chr 2:25,089,724...25,101,501 		JBrowse link
G Nog noggin ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:89,191,464...89,193,385
Ensembl chr11:89,191,464...89,193,158 		JBrowse link
G Notch1 notch 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675 		JBrowse link
G Noxa1 NADPH oxidase activator 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:24,975,679...24,985,217
Ensembl chr 2:24,975,679...24,985,161 		JBrowse link
G Npdc1 neural proliferation, differentiation and control 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,293,067...25,299,504
Ensembl chr 2:25,289,363...25,299,506 		JBrowse link
G Nphp1 nephronophthisis 1 (juvenile) homolog (human) ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:24746959 PMID:25741868 PMID:28492532 NCBI chr 2:127,582,652...127,630,833
Ensembl chr 2:127,582,652...127,630,817 		JBrowse link
G Nrarp Notch-regulated ankyrin repeat protein ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,070,770...25,073,351
Ensembl chr 2:25,070,770...25,073,351 		JBrowse link
G Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:24,944,370...24,952,893
Ensembl chr 2:24,944,367...24,952,893 		JBrowse link
G Nt5m 5',3'-nucleotidase, mitochondrial ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:59,730,233...59,767,359
Ensembl chr11:59,730,273...59,771,794 		JBrowse link
G Obp2a odorant binding protein 2A ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,587,589...25,593,338
Ensembl chr 2:25,590,055...25,593,338 		JBrowse link
G Ofd1 OFD1, centriole and centriolar satellite protein ISO 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 PMID:9536098 PMID:11179005 PMID:11349230 PMID:12595504 PMID:16199547 More... NCBI chr  X:165,171,503...165,223,704
Ensembl chr  X:165,173,029...165,223,700 		JBrowse link
G Or4d1 olfactory receptor family 4 subfamily D member 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:87,804,746...87,805,829
Ensembl chr11:87,804,094...87,811,793 		JBrowse link
G Or4d2 olfactory receptor family 4 subfamily D member 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:87,783,813...87,784,748
Ensembl chr11:87,783,444...87,788,213 		JBrowse link
G Paxx non-homologous end joining factor ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,345,132...25,352,666
Ensembl chr 2:25,345,153...25,351,106 		JBrowse link
G Pdp1 pyruvate dehydrogenase phosphatase catalytic subunit 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:20232449 PMID:23559409 PMID:28492532 NCBI chr 4:11,958,183...11,966,450
Ensembl chr 4:11,958,184...11,966,452 		JBrowse link
G Pdpr pyruvate dehydrogenase phosphatase regulatory subunit ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25558065 PMID:27894351 NCBI chr 8:111,821,232...111,866,402
Ensembl chr 8:111,821,262...111,863,706 		JBrowse link
G Pemt phosphatidylethanolamine N-methyltransferase ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:59,861,440...59,937,394
Ensembl chr11:59,861,440...59,937,315 		JBrowse link
G Phpt1 phosphohistidine phosphatase 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,463,442...25,465,528
Ensembl chr 2:25,463,442...25,465,236 		JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:26167768 PMID:28492532 NCBI chr14:99,336,892...99,492,335
Ensembl chr14:99,336,860...99,491,929 		JBrowse link
G Pld6 phospholipase D family member 6 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:59,674,719...59,678,483
Ensembl chr11:59,674,723...59,678,471 		JBrowse link
G Pmpca peptidase (mitochondrial processing) alpha ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:15786477 PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 2:26,275,554...26,287,134
Ensembl chr 2:26,279,351...26,287,134 		JBrowse link
G Pnpla7 patatin-like phospholipase domain containing 7 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:24,865,235...24,944,084
Ensembl chr 2:24,866,045...24,944,069 		JBrowse link
G Ppm1d protein phosphatase 1D magnesium-dependent, delta isoform ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:85,202,080...85,237,897
Ensembl chr11:85,202,070...85,237,892 		JBrowse link
G Ppm1e protein phosphatase 1E (PP2C domain containing) ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:87,117,724...87,249,884
Ensembl chr11:87,117,732...87,249,849 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr 5:44,150,963...44,260,850
Ensembl chr 5:44,150,962...44,259,374 		JBrowse link
G Prpsap2 phosphoribosyl pyrophosphate synthetase-associated protein 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:61,620,476...61,652,924
Ensembl chr11:61,620,476...61,652,914 		JBrowse link
G Prr11 proline rich 11 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:86,979,982...86,999,540
Ensembl chr11:86,979,979...86,999,534 		JBrowse link
G Ptgds prostaglandin D2 synthase (brain) ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,356,723...25,360,080
Ensembl chr 2:25,356,721...25,360,058 		JBrowse link
G Ptrh2 peptidyl-tRNA hydrolase 2 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:28492532 NCBI chr11:86,574,900...86,583,283
Ensembl chr11:86,574,811...86,583,283 		JBrowse link
G Qsox2 quiescin Q6 sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:26,099,136...26,127,411
Ensembl chr 2:26,098,649...26,127,537 		JBrowse link
G Rab9 RAB9, member RAS oncogene family ISO 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:165,240,247...165,262,863
Ensembl chr  X:165,240,249...165,262,863 		JBrowse link
G Rabl6 RAB, member RAS oncogene family-like 6 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,473,029...25,498,493
Ensembl chr 2:25,473,030...25,498,533 		JBrowse link
G Rad51c RAD51 paralog C ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:87,267,471...87,295,780
Ensembl chr11:87,267,471...87,295,780 		JBrowse link
G Rai1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:59,995,743...60,090,023
Ensembl chr11:59,995,839...60,090,023 		JBrowse link
G Rasd1 RAS, dexamethasone-induced 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:59,854,007...59,855,770
Ensembl chr11:59,854,007...59,855,770 		JBrowse link
G Rcor1 REST corepressor 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:26489029 NCBI chr12:111,005,801...111,082,336
Ensembl chr12:111,005,785...111,082,335 		JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar PMID:9536098 PMID:16682973 PMID:16909394 PMID:17576681 PMID:19764032 More... NCBI chr10:100,408,136...100,425,252
Ensembl chr10:100,408,127...100,426,285 		JBrowse link
G Rnf112 ring finger protein 112 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:61,339,243...61,345,014
Ensembl chr11:61,339,268...61,344,957 		JBrowse link
G Rnf208 ring finger protein 208 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,132,941...25,134,273
Ensembl chr 2:25,132,941...25,134,274 		JBrowse link
G Rnf224 ring finger protein 224 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,124,487...25,126,799
Ensembl chr 2:25,124,488...25,126,799 		JBrowse link
G Rnf43 ring finger protein 43 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:87,553,913...87,626,365
Ensembl chr11:87,553,548...87,626,365 		JBrowse link
G Rnft1 ring finger protein, transmembrane 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:86,375,483...86,389,833
Ensembl chr11:86,375,483...86,389,851 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | 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
ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | 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 Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | 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 PMID:3442652 PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 More... NCBI chr 8:91,943,658...92,039,919
Ensembl chr 8:91,943,658...92,039,890 		JBrowse link
G Rps6kb1 ribosomal protein S6 kinase, polypeptide 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:86,389,695...86,435,711
Ensembl chr11:86,389,697...86,435,631 		JBrowse link
G Sapcd2 suppressor APC domain containing 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,261,974...25,268,225
Ensembl chr 2:25,262,333...25,268,225 		JBrowse link
G Scpep1 serine carboxypeptidase 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:88,814,846...88,846,268
Ensembl chr11:88,814,846...88,846,291 		JBrowse link
G Sdhaf2 succinate dehydrogenase complex assembly factor 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr19:10,477,876...10,502,573
Ensembl chr19:10,477,898...10,503,506 		JBrowse link
G Sec16a SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:26,299,443...26,336,138
Ensembl chr 2:26,299,443...26,335,228 		JBrowse link
G Septin4 septin 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:87,457,515...87,481,365
Ensembl chr11:87,457,479...87,481,365 		JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 (soluble) ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:60,679,723...60,702,062
Ensembl chr11:60,678,930...60,702,544 		JBrowse link
G Ska2 spindle and kinetochore associated complex subunit 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:87,000,087...87,013,800
Ensembl chr11:87,000,060...87,015,461 		JBrowse link
G Slc34a3 solute carrier family 34 (sodium phosphate), member 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,118,909...25,124,282
Ensembl chr 2:25,118,910...25,124,376 		JBrowse link
G Slc47a1 solute carrier family 47, member 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:61,234,226...61,269,668
Ensembl chr11:61,234,227...61,269,171 		JBrowse link
G Slc5a10 solute carrier family 5 (sodium/glucose cotransporter), member 10 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:61,563,608...61,611,641
Ensembl chr11:61,563,607...61,611,652 		JBrowse link
G Smcr8 Smith-Magenis syndrome chromosome region, candidate 8 homolog (human) ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:60,668,351...60,679,113
Ensembl chr11:60,668,350...60,679,113 		JBrowse link
G Smg8 SMG8 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:86,968,558...86,977,603
Ensembl chr11:86,968,558...86,977,600 		JBrowse link
G Snapc4 small nuclear RNA activating complex, polypeptide 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:15786477 PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 2:26,252,777...26,270,666
Ensembl chr 2:26,252,777...26,270,665 		JBrowse link
G Snhg7 small nucleolar RNA host gene 7 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:26,527,188...26,530,256
Ensembl chr 2:26,526,613...26,530,577 		JBrowse link
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,733,007...25,737,347
Ensembl chr 2:25,733,007...25,737,260 		JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:60,089,910...60,113,407
Ensembl chr11:60,089,915...60,113,407 		JBrowse link
G Srsf1 serine and arginine-rich splicing factor 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:87,937,325...87,944,583
Ensembl chr11:87,938,199...87,944,581 		JBrowse link
G Ssna1 SS nuclear autoantigen 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,161,051...25,162,430
Ensembl chr 2:25,161,051...25,162,450 		JBrowse link
G Stpg3 sperm tail PG rich repeat containing 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,102,219...25,108,680
Ensembl chr 2:25,102,219...25,104,649 		JBrowse link
G Supt4a SPT4A, DSIF elongation factor subunit ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:87,628,377...87,634,449
Ensembl chr11:87,628,378...87,634,449 		JBrowse link
G Tapt1 transmembrane anterior posterior transformation 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr 5:44,332,496...44,384,411
Ensembl chr 5:44,332,496...44,383,968 		JBrowse link
G Tbx2 T-box 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:85,723,441...85,732,774
Ensembl chr11:85,723,377...85,732,774 		JBrowse link
G Tbx4 T-box 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:85,777,193...85,806,923
Ensembl chr11:85,777,248...85,806,923 		JBrowse link
G Tceanc transcription elongation factor A (SII) N-terminal and central domain containing ISO 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:165,282,806...165,301,594
Ensembl chr  X:165,282,808...165,301,563 		JBrowse link
G Tctn1 tectonic family member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Agenesis of cerebellar 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: Joubert-Boltshauser syndrome 		CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21725307 More... NCBI chr 5:122,377,558...122,402,557
Ensembl chr 5:122,375,911...122,402,523 		JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar Annotator: match by term: 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 chr 5:124,736,812...124,765,803
Ensembl chr 5:124,736,812...124,765,803 		JBrowse link
G Tex14 testis expressed gene 14 intercellular bridge forming factor ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:87,295,839...87,446,649
Ensembl chr11:87,295,891...87,446,649 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
G Tlr7 toll-like receptor 7 ISO 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:166,086,376...166,113,570
Ensembl chr  X:166,087,925...166,113,554 		JBrowse link
G Tlr8 toll-like receptor 8 ISO 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:166,024,119...166,047,325
Ensembl chr  X:166,025,692...166,047,325 		JBrowse link
G Tmem138 transmembrane protein 138 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 NCBI chr19:10,547,842...10,554,765
Ensembl chr19:10,547,842...10,554,726 		JBrowse link
G Tmem141 transmembrane protein 141 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,510,078...25,512,059
Ensembl chr 2:25,510,079...25,512,017 		JBrowse link
G Tmem17 transmembrane protein 17 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar NCBI chr11:22,462,283...22,469,231
Ensembl chr11:22,462,088...22,469,234 		JBrowse link
G Tmem203 transmembrane protein 203 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,145,451...25,146,364
Ensembl chr 2:25,145,451...25,146,304 		JBrowse link
G Tmem210 transmembrane protein 210 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,178,153...25,179,201
Ensembl chr 2:25,178,157...25,179,201 		JBrowse link
G Tmem216 transmembrane protein 216 ISO 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:17576681 PMID:18414213 PMID:19763152 More... NCBI chr19:10,516,690...10,533,663
Ensembl chr19:10,511,229...10,533,602 		JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:33791682 NCBI chr 9:37,119,519...37,134,524
Ensembl chr 9:37,119,519...37,135,996 		JBrowse link
G Tmem231 transmembrane protein 231 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:112,638,639...112,660,445
Ensembl chr 8:112,638,643...112,660,513 		JBrowse link
G Tmem237 transmembrane protein 237 ISO 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:17603801 PMID:22152675 PMID:22981120 PMID:24033266 PMID:25741868 More... NCBI chr 1:59,139,743...59,159,567
Ensembl chr 1:59,139,749...59,159,567 		JBrowse link
G Tmem250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:26,026,819...26,030,518
Ensembl chr 2:26,026,826...26,030,533 		JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | 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: 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: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | 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 PMID:2929661 PMID:8862632 PMID:9375913 PMID:9536098 PMID:10567047 More... NCBI chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,363...12,090,020 		JBrowse link
G Tmsb4x thymosin, beta 4, X chromosome ISO 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:165,990,089...165,996,475
Ensembl chr  X:165,990,089...165,992,311 		JBrowse link
G Tmtc3 transmembrane and tetratricopeptide repeat containing 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:19764032 PMID:23954617 PMID:27821535 PMID:28492532 NCBI chr10:100,279,764...100,323,230
Ensembl chr10:100,279,764...100,323,212 		JBrowse link
G Tnfrsf13b tumor necrosis factor receptor superfamily, member 13b ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:61,017,567...61,040,435
Ensembl chr11:61,017,581...61,040,198 		JBrowse link
G Togaram1 TOG array regulator of axonemal microtubules 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:32453716 PMID:32747439 NCBI chr12:65,012,350...65,069,347
Ensembl chr12:65,012,578...65,069,347 		JBrowse link
G Tom1l2 target of myb1-like 2 (chicken) ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:60,114,622...60,243,766
Ensembl chr11:60,117,540...60,243,731 		JBrowse link
G Top3a topoisomerase (DNA) III alpha ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:60,629,014...60,668,099
Ensembl chr11:60,630,884...60,668,191 		JBrowse link
G Tor4a torsin family 4, member A ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,082,732...25,086,825
Ensembl chr 2:25,082,978...25,086,898 		JBrowse link
G Tprn taperin ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,152,610...25,159,898
Ensembl chr 2:25,152,630...25,159,897 		JBrowse link
G Traf2 TNF receptor-associated factor 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,407,994...25,436,952
Ensembl chr 2:25,407,994...25,436,952 		JBrowse link
G Trappc2 trafficking protein particle complex 2 ISO 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:165,223,747...165,236,136
Ensembl chr  X:165,223,570...165,236,136 		JBrowse link
G Trim25 tripartite motif-containing 25 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:88,890,194...88,911,119
Ensembl chr11:88,890,202...88,911,119 		JBrowse link
G Trim37 tripartite motif-containing 37 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:87,017,675...87,141,700
Ensembl chr11:87,017,903...87,111,509 		JBrowse link
G Tspoap1 TSPO associated protein 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:87,649,022...87,676,754
Ensembl chr11:87,651,367...87,676,754 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:21258341 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:66,014,131...66,087,144
Ensembl chr 2:66,014,671...66,086,961 		JBrowse link
G Tubb4b tubulin, beta 4B class IVB ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,112,170...25,114,714
Ensembl chr 2:25,112,172...25,114,714 		JBrowse link
G Tubd1 tubulin, delta 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:86,435,817...86,462,772
Ensembl chr11:86,435,817...86,458,186 		JBrowse link
G Tvp23b trans-golgi network vesicle protein 23B ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:62,770,281...62,786,012
Ensembl chr11:62,770,281...62,807,606 		JBrowse link
G Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,251,501...25,255,695
Ensembl chr 2:25,249,901...25,255,694 		JBrowse link
G Ubac1 ubiquitin associated domain containing 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:25,886,970...25,911,793
Ensembl chr 2:25,888,555...25,911,759 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16963483 PMID:24033266 PMID:25741868 PMID:28041643 PMID:28492532 More... NCBI chr 1:187,995,035...188,697,694
Ensembl chr 1:187,994,220...188,697,238 		JBrowse link
G Usp32 ubiquitin specific peptidase 32 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:84,875,263...85,031,107
Ensembl chr11:84,875,268...85,030,987 		JBrowse link
G Vezf1 vascular endothelial zinc finger 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:87,959,084...87,975,555
Ensembl chr11:87,959,105...87,975,555 		JBrowse link
G Vmp1 vacuole membrane protein 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:86,474,684...86,574,662
Ensembl chr11:86,474,691...86,574,662 		JBrowse link
G Wdpcp WD repeat containing planar cell polarity effector ISO ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar PMID:25741868 PMID:27158779 PMID:28492532 NCBI chr11:21,521,969...21,848,686
Ensembl chr11:21,522,235...21,848,989 		JBrowse link
G Ypel2 yippee like 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr11:86,827,251...86,884,629
Ensembl chr11:86,827,251...86,884,533 		JBrowse link
G Zmynd19 zinc finger, MYND domain containing 19 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 2:24,839,789...24,850,882
Ensembl chr 2:24,839,804...24,852,087 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16273
    sensory system disease 7186
      eye disease 3724
        Eye Abnormalities 824
          Joubert syndrome 1 240
Path 2
Term Annotations click to browse term
  disease 16273
    Developmental Disease 14084
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13142
        genetic disease 12836
          monogenic disease 10956
            ciliopathy 1033
              Joubert syndrome 419
                Joubert syndrome 1 240
paths to the root