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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 Abca2 ATP binding cassette subfamily 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 chrNW_004955513:5,035,879...5,051,140
Ensembl chrNW_004955513:5,033,771...5,051,200 		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 chrNW_004955513:4,142,074...4,145,097
Ensembl chrNW_004955513:4,135,460...4,149,677 		JBrowse link
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: 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 PMID:9536098 PMID:15322546 PMID:15467982 PMID:16155189 PMID:16199547 More... NCBI chrNW_004955439:1,277,185...1,460,296
Ensembl chrNW_004955439:1,276,760...1,474,202 		JBrowse link
G Ajm1 apical junction component 1 homolog ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004955513:4,924,344...4,930,850
Ensembl chrNW_004955513:4,924,620...4,930,850 		JBrowse link
G Akap1 A-kinase anchoring protein 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955451:5,756,648...5,787,617
Ensembl chrNW_004955451:5,756,835...5,770,238 		JBrowse link
G Aldh3a2 aldehyde dehydrogenase 3 family member A2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955467:141,592...162,376
Ensembl chrNW_004955467:140,760...162,742 		JBrowse link
G Alkbh5 alkB homolog 5, RNA demethylase ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955478:11,104,445...11,128,980
Ensembl chrNW_004955478:11,105,920...11,128,222 		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 chrNW_004955513:5,183,472...5,194,253
Ensembl chrNW_004955513:5,183,472...5,194,253 		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 chrNW_004955451:1,736,742...1,804,776
Ensembl chrNW_004955451:1,736,629...1,804,776 		JBrowse link
G Arl13b ARF like GTPase 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 chrNW_004955407:3,402,214...3,477,839
Ensembl chrNW_004955407:3,402,908...3,460,105 		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 chrNW_004955453:4,202,540...4,294,548
Ensembl chrNW_004955453:4,203,941...4,294,548 		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 chrNW_004955513:5,479,468...5,486,489
Ensembl chrNW_004955513:5,479,468...5,490,990 		JBrowse link
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:26092869 PMID:28492532 NCBI chrNW_004955482:5,311,434...5,337,684
Ensembl chrNW_004955482:5,311,434...5,337,697 		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 chrNW_004955478:11,249,073...11,264,249
Ensembl chrNW_004955478:11,248,781...11,267,158 		JBrowse link
G B9d1 B9 domain containing 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: 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 chrNW_004955467:405,487...415,887
Ensembl chrNW_004955467:405,490...416,116 		JBrowse link
G B9d2 B9 domain containing 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 chrNW_004955555:288,919...295,861
Ensembl chrNW_004955555:288,919...295,860 		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 chrNW_004955451:1,929,857...2,450,225
Ensembl chrNW_004955451:1,929,543...2,449,523 		JBrowse link
G Brip1 BRCA1 interacting DNA helicase 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955451:2,705,834...2,820,610
Ensembl chrNW_004955451:2,707,793...2,818,592 		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 chrNW_004955480:8,273,887...8,304,127
Ensembl chrNW_004955480:8,271,165...8,304,548 		JBrowse link
G C2cd3 C2 domain containing 3 centriole elongation regulator 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 NCBI chrNW_004955414:17,444,299...17,557,912
Ensembl chrNW_004955414:17,444,515...17,558,245 		JBrowse link
G Ca4 carbonic anhydrase 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955451:1,485,939...1,493,249
Ensembl chrNW_004955451:1,486,010...1,494,084 		JBrowse link
G Cacna1b calcium voltage-gated channel subunit alpha1 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 chrNW_004955513:5,654,915...5,823,094
Ensembl chrNW_004955513:5,654,238...5,824,386 		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 chrNW_004955513:4,649,816...4,704,282
Ensembl chrNW_004955513:4,667,292...4,705,910 		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 chrNW_004955513:4,350,873...4,359,345
Ensembl chrNW_004955513:4,350,147...4,359,345 		JBrowse link
G Cby1 chibby 1, beta catenin antagonist ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:33131181 NCBI chrNW_004955413:24,781,102...24,794,537
Ensembl chrNW_004955413:24,781,102...24,794,537 		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: 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: 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:3631907 PMID:8253763 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chrNW_004955480:8,404,239...8,514,792
Ensembl chrNW_004955480:8,400,284...8,514,736 		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 chrNW_004955513:4,897,359...4,904,559
Ensembl chrNW_004955513:4,897,359...4,904,559 		JBrowse link
G Cd38 CD38 molecule ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955480:8,177,178...8,218,483
Ensembl chrNW_004955480:8,178,473...8,217,643 		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 PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... NCBI chrNW_004955405:25,533,037...25,607,021
Ensembl chrNW_004955405:25,533,525...25,606,212 		JBrowse link
G Cep41 centrosomal protein 41 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955479:11,025,320...11,071,256
Ensembl chrNW_004955479:11,025,320...11,070,964 		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 chrNW_004955451:1,709,938...1,719,278
Ensembl chrNW_004955451:1,710,089...1,716,042 		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 chrNW_004955513:5,239,239...5,245,859
Ensembl chrNW_004955513:5,235,629...5,245,859 		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 chrNW_004955513:5,020,105...5,022,000
Ensembl chrNW_004955513:5,020,144...5,021,936 		JBrowse link
G Cltc clathrin heavy chain ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955451:3,380,304...3,445,973
Ensembl chrNW_004955451:3,380,304...3,445,973 		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 chrNW_004955442:13,843,952...13,890,082
Ensembl chrNW_004955442:13,842,784...13,885,860 		JBrowse link
G Coil coilin ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955451:5,884,233...5,898,525 JBrowse link
G Cops3 COP9 signalosome subunit 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955577:639,616...664,390
Ensembl chrNW_004955577:638,749...664,390 		JBrowse link
G Cplane1 ciliogenesis and planar polarity effector complex subunit 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 chrNW_004955426:21,867,876...21,991,889
Ensembl chrNW_004955426:21,868,017...21,983,747 		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 chrNW_004955511:6,139,118...6,161,130
Ensembl chrNW_004955511:6,139,118...6,161,130 		JBrowse link
G Cuedc1 CUE domain containing 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955451:5,054,633...5,124,318
Ensembl chrNW_004955451:5,105,123...5,120,544 		JBrowse link
G CUNH17orf67 chromosome unknown C17orf67 homolog ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955451:6,003,689...6,020,435
Ensembl chrNW_004955451:6,003,652...6,020,474 		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 chrNW_004955513:5,223,124...5,224,650
Ensembl chrNW_004955513:5,223,124...5,224,650 		JBrowse link
G Dgke diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955451:5,966,773...5,988,004
Ensembl chrNW_004955451:5,969,070...5,988,004 		JBrowse link
G Dhx40 DEAH-box helicase 40 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955451:3,456,993...3,500,310
Ensembl chrNW_004955451:3,456,993...3,500,310 		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 chrNW_004955513:4,120,061...4,123,964
Ensembl chrNW_004955513:4,120,061...4,123,971 		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 chrNW_004955513:4,359,421...4,361,081
Ensembl chrNW_004955513:4,359,421...4,361,081 		JBrowse link
G Dph7 diphthamide biosynthesis 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 chrNW_004955513:5,438,746...5,449,461 JBrowse link
G Dpp7 dipeptidyl peptidase 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 chrNW_004955513:5,105,833...5,109,676
Ensembl chrNW_004955513:5,106,430...5,109,483 		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 chrNW_004955478:11,193,245...11,210,917
Ensembl chrNW_004955478:11,193,245...11,210,914 		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 chrNW_004955451:4,929,186...4,936,027
Ensembl chrNW_004955451:4,929,186...4,936,027 		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 chrNW_004955513:4,942,268...4,945,645
Ensembl chrNW_004955513:4,942,268...4,946,000 		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 chrNW_004955519:4,557,007...4,616,095
Ensembl chrNW_004955519:4,556,610...4,616,296 		JBrowse link
G Egfl7 EGF like domain multiple 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 chrNW_004955513:4,145,059...4,154,918
Ensembl chrNW_004955513:4,142,108...4,151,421 		JBrowse link
G Ehmt1 euchromatic histone lysine 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 chrNW_004955513:5,491,446...5,642,559
Ensembl chrNW_004955513:5,547,313...5,641,499 		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 chrNW_004955482:5,380,121...5,388,588
Ensembl chrNW_004955482:5,380,121...5,388,588 		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 chrNW_004955513:5,070,050...5,075,098
Ensembl chrNW_004955513:5,068,875...5,075,098 		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 chrNW_004955513:5,352,843...5,357,671
Ensembl chrNW_004955513:5,353,229...5,356,019 		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 chrNW_004955513:4,322,002...4,329,479
Ensembl chrNW_004955513:4,322,871...4,330,012 		JBrowse link
G Epn2 epsin 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955467:419,342...505,909
Ensembl chrNW_004955467:419,289...506,092 		JBrowse link
G Epx eosinophil peroxidase ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955451:4,818,809...4,828,913
Ensembl chrNW_004955451:4,818,809...4,828,913 		JBrowse link
G Exd3 exonuclease 3'-5' domain 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 chrNW_004955513:5,314,370...5,336,052 JBrowse link
G Exoc8 exocyst complex component 8 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:22700954 NCBI chrNW_004955492:7,476,866...7,481,186
Ensembl chrNW_004955492:7,477,015...7,479,165 		JBrowse link
G Fam149b1 family with sequence similarity 149 member B1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:30905400 NCBI chrNW_004955437:18,492,459...18,537,629
Ensembl chrNW_004955437:18,491,975...18,537,626 		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 chrNW_004955467:594,921...623,661
Ensembl chrNW_004955467:595,490...623,566 		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 chrNW_004955480:8,360,957...8,397,903
Ensembl chrNW_004955480:8,344,019...8,398,650 		JBrowse link
G Fbxw5 F-box and WD repeat domain containing 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 chrNW_004955513:4,993,161...4,996,922
Ensembl chrNW_004955513:4,993,161...4,996,921 		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 chrNW_004955480:8,088,670...8,091,882
Ensembl chrNW_004955480:8,088,670...8,091,882 		JBrowse link
G Flcn folliculin ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955577:672,774...694,140
Ensembl chrNW_004955577:672,410...694,140 		JBrowse link
G Flii FLII actin remodeling protein ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955478:11,061,728...11,075,370
Ensembl chrNW_004955478:11,062,707...11,075,117 		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 chrNW_004955433:11,424,069...11,834,955
Ensembl chrNW_004955433:11,424,176...11,813,771 		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 chrNW_004955513:5,056,718...5,061,974 JBrowse link
G Gdpd1 glycerophosphodiester phosphodiesterase domain containing 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955451:3,751,229...3,799,651
Ensembl chrNW_004955451:3,751,804...3,799,336 		JBrowse link
G Gid4 GID complex subunit 4 homolog ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955478:11,223,083...11,242,986
Ensembl chrNW_004955478:11,226,449...11,243,935 		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 chrNW_004955513:4,792,103...4,812,302
Ensembl chrNW_004955513:4,792,779...4,814,999 		JBrowse link
G Gpsm1 G protein signaling modulator 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 chrNW_004955513:4,363,534...4,387,356
Ensembl chrNW_004955513:4,361,139...4,387,356 		JBrowse link
G Grap GRB2 related adaptor protein ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955467:559,411...581,098
Ensembl chrNW_004955467:559,397...581,098 		JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 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 chrNW_004955513:5,154,864...5,178,636
Ensembl chrNW_004955513:5,154,864...5,178,636 		JBrowse link
G Gtf2h3 general transcription factor IIH subunit 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955482:5,365,669...5,380,047
Ensembl chrNW_004955482:5,365,142...5,380,047 		JBrowse link
G Heatr6 HEAT repeat containing 6 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955451:204,952...239,572
Ensembl chrNW_004955451:206,203...243,076 		JBrowse link
G Hsf5 heat shock transcription factor 5 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955451:4,564,576...4,601,868
Ensembl chrNW_004955451:4,563,770...4,599,720 		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 NCBI chrNW_004955469:9,418,599...9,455,026
Ensembl chrNW_004955469:9,418,609...9,455,026 		JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E 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: 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: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1		 OMIM
ClinVar		 PMID:9536098 PMID:10577920 PMID:15786477 PMID:16025100 PMID:16199547 More... NCBI chrNW_004955513:4,304,483...4,313,087
Ensembl chrNW_004955513:4,304,483...4,313,087 		JBrowse link
G Irx3 iroquois homeobox 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:17558409 PMID:28492532 NCBI chrNW_004955433:11,944,890...11,948,372
Ensembl chrNW_004955433:11,944,890...11,948,369 		JBrowse link
G Irx5 iroquois homeobox 5 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:17558409 PMID:28492532 NCBI chrNW_004955433:12,518,786...12,522,744
Ensembl chrNW_004955433:12,519,338...12,522,118 		JBrowse link
G Irx6 iroquois homeobox 6 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:17558409 PMID:28492532 NCBI chrNW_004955433:12,889,025...12,895,090
Ensembl chrNW_004955433:12,889,001...12,895,121 		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 chrNW_004955493:5,724,550...5,915,727
Ensembl chrNW_004955493:5,724,614...5,915,857 		JBrowse link
G Kcnt1 potassium sodium-activated 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 chrNW_004955513:4,712,772...4,765,657
Ensembl chrNW_004955513:4,712,516...4,765,657 		JBrowse link
G Kiaa0586 KIAA0586 ortholog ISO ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar PMID:20301500 PMID:24033266 PMID:25741868 PMID:25807282 PMID:26026149 More... NCBI chrNW_004955466:12,125,559...12,240,991
Ensembl chrNW_004955466:12,126,184...12,243,170 		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 chrNW_004955416:15,555,959...15,570,925
Ensembl chrNW_004955416:15,555,933...15,570,985 		JBrowse link
G Kitlg KIT ligand ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:19764032 PMID:23954617 PMID:27821535 PMID:28492532 NCBI chrNW_004955405:25,816,137...25,969,006
Ensembl chrNW_004955405:25,886,447...25,969,395 		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 chrNW_004955513:4,063,245...4,066,160
Ensembl chrNW_004955513:4,063,999...4,066,160 		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 chrNW_004955513:4,997,015...5,003,691
Ensembl chrNW_004955513:4,998,288...5,003,691 		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 chrNW_004955513:4,860,420...4,863,716
Ensembl chrNW_004955513:4,860,662...4,863,648 		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 chrNW_004955513:4,877,845...4,879,978
Ensembl chrNW_004955513:4,877,501...4,879,978 		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 chrNW_004955513:4,786,615...4,788,768 JBrowse link
G Lcnl1 lipocalin 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 chrNW_004955513:5,012,879...5,015,482 JBrowse link
G Lhx3 LIM homeobox 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 chrNW_004955513:4,464,149...4,470,962
Ensembl chrNW_004955513:4,464,149...4,470,962 		JBrowse link
G Llgl1 LLGL scribble cell polarity complex component 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955478:11,075,399...11,089,818
Ensembl chrNW_004955478:11,075,399...11,089,839 		JBrowse link
G LOC102010018 chromosome unknown open reading frame, human C12orf50 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar PMID:16682973 PMID:16909394 PMID:19764032 PMID:23954617 PMID:27821535 More... NCBI chrNW_004955405:25,482,450...25,520,053
Ensembl chrNW_004955405:25,482,750...25,516,685 		JBrowse link
G LOC102016503 cytochrome b ascorbate-dependent protein 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 NCBI chrNW_004955511:6,191,644...6,200,099
Ensembl chrNW_004955511:6,191,645...6,200,099 		JBrowse link
G LOC102030025 olfactory receptor 4D2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955451:4,839,888...4,840,823
Ensembl chrNW_004955451:4,839,888...4,840,823 		JBrowse link
G LOC102030371 olfactory receptor 4D1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955451:4,875,038...4,876,053 JBrowse link
G Lpo lactoperoxidase ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955451:4,754,572...4,769,380
Ensembl chrNW_004955451:4,754,468...4,769,553 		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 chrNW_004955513:5,178,631...5,180,462
Ensembl chrNW_004955513:5,178,631...5,180,462 		JBrowse link
G Lrrc34 leucine rich repeat containing 34 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar NCBI chrNW_004955420:44,454...66,222
Ensembl chrNW_004955420:44,454...66,222 		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 chrNW_004955513:4,932,596...4,941,330
Ensembl chrNW_004955513:4,933,927...4,941,160 		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 chrNW_004955513:5,109,651...5,122,568
Ensembl chrNW_004955513:5,111,046...5,122,442 		JBrowse link
G Mapk7 mitogen-activated protein kinase 7 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955467:381,801...387,078
Ensembl chrNW_004955467:378,156...386,532 		JBrowse link
G Med9 mediator complex subunit 9 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955577:455,879...470,126
Ensembl chrNW_004955577:454,715...470,152 		JBrowse link
G Mfap4 microfibril associated protein 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955467:378,389...381,593
Ensembl chrNW_004955467:377,887...381,593 		JBrowse link
G Micall2 MICAL like 2 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar NCBI chrNW_004955460:9,085,695...9,105,236
Ensembl chrNW_004955460:9,082,795...9,105,338 		JBrowse link
G Mief2 mitochondrial elongation factor 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955478:11,056,489...11,063,142
Ensembl chrNW_004955478:11,057,462...11,061,852 		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 PMID:9536098 PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 More... NCBI chrNW_004955451:4,805,542...4,818,233
Ensembl chrNW_004955451:4,804,838...4,821,556 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:17558409 PMID:28492532 NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775 		JBrowse link
G Mpo myeloperoxidase ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955451:4,743,744...4,753,358
Ensembl chrNW_004955451:4,743,744...4,753,358 		JBrowse link
G Mprip myosin phosphatase Rho interacting protein ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955577:705,435...838,948
Ensembl chrNW_004955577:705,435...838,948 		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 chrNW_004955513:5,436,174...5,437,016
Ensembl chrNW_004955513:5,436,174...5,437,016 		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 chrNW_004955513:4,055,814...4,058,507
Ensembl chrNW_004955513:4,055,819...4,062,049 		JBrowse link
G Mrps23 mitochondrial ribosomal protein S23 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955451:5,134,865...5,143,872
Ensembl chrNW_004955451:5,134,865...5,143,036 		JBrowse link
G Msi2 musashi RNA binding protein 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955451:5,271,008...5,697,839
Ensembl chrNW_004955451:5,278,568...5,638,075 		JBrowse link
G Mtmr4 myotubularin related protein 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955451:4,531,966...4,557,528
Ensembl chrNW_004955451:4,532,295...4,558,225 		JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955478:11,131,908...11,186,465
Ensembl chrNW_004955478:11,132,719...11,186,378 		JBrowse link
G Nacc2 NACC family 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 chrNW_004955513:4,560,903...4,595,081
Ensembl chrNW_004955513:4,561,643...4,595,364 		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 chrNW_004955513:5,208,040...5,216,618
Ensembl chrNW_004955513:5,208,151...5,216,182 		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 chrNW_004955513:5,248,190...5,261,018
Ensembl chrNW_004955513:5,248,190...5,262,044 		JBrowse link
G Nog noggin ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955451:6,192,368...6,193,766
Ensembl chrNW_004955451:6,193,042...6,193,740 		JBrowse link
G Notch1 notch receptor 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 chrNW_004955513:4,225,939...4,264,875
Ensembl chrNW_004955513:4,225,956...4,263,259 		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 chrNW_004955513:5,345,521...5,352,879
Ensembl chrNW_004955513:5,345,619...5,352,834 		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 chrNW_004955513:5,063,448...5,066,108
Ensembl chrNW_004955513:5,063,704...5,066,106 		JBrowse link
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:24746959 PMID:25741868 PMID:28492532 NCBI chrNW_004955470:3,261,455...3,305,989
Ensembl chrNW_004955470:3,260,557...3,307,797 		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 chrNW_004955513:5,368,384...5,376,480
Ensembl chrNW_004955513:5,369,218...5,375,670 		JBrowse link
G Nt5m 5',3'-nucleotidase, mitochondrial ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955577:582,206...608,614 JBrowse link
G Ofd1 OFD1 centriole and centriolar satellite protein 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-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 PMID:9536098 PMID:11179005 PMID:11349230 PMID:12595504 PMID:16199547 More... NCBI chrNW_004955519:4,433,747...4,470,842
Ensembl chrNW_004955519:4,433,855...4,471,070 		JBrowse link
G Paxx 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 chrNW_004955513:5,017,971...5,019,489
Ensembl chrNW_004955513:5,017,971...5,019,489 		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 chrNW_004955417:10,219,096...10,227,483
Ensembl chrNW_004955417:10,219,595...10,228,669 		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 chrNW_004955484:3,007,435...3,044,060
Ensembl chrNW_004955484:3,010,918...3,044,004 		JBrowse link
G Pemt phosphatidylethanolamine N-methyltransferase ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955577:365,031...443,138
Ensembl chrNW_004955577:367,288...443,138 		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 chrNW_004955513:4,930,951...4,932,509
Ensembl chrNW_004955513:4,930,951...4,932,509 		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 chrNW_004955404:33,713,903...33,897,622
Ensembl chrNW_004955404:33,714,193...33,897,622 		JBrowse link
G Pld6 phospholipase D family member 6 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955577:698,741...702,977 JBrowse link
G Pmpca peptidase, mitochondrial processing subunit 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 chrNW_004955513:4,315,159...4,322,609
Ensembl chrNW_004955513:4,315,159...4,322,609 		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 chrNW_004955513:5,376,690...5,436,095
Ensembl chrNW_004955513:5,376,699...5,434,581 		JBrowse link
G Ppm1d protein phosphatase, Mg2+/Mn2+ dependent 1D ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955451:1,878,110...1,915,794
Ensembl chrNW_004955451:1,878,629...1,915,654 		JBrowse link
G Ppm1e protein phosphatase, Mg2+/Mn2+ dependent 1E ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955451:3,989,575...4,137,400
Ensembl chrNW_004955451:3,986,715...4,137,134 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955480:7,955,501...8,059,537
Ensembl chrNW_004955480:7,961,389...8,059,589 		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 chrNW_004955467:676,845...722,175
Ensembl chrNW_004955467:676,195...722,233 		JBrowse link
G Prr11 proline rich 11 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955451:3,813,617...3,839,521
Ensembl chrNW_004955451:3,814,827...3,840,070 		JBrowse link
G Ptgds prostaglandin D2 synthase ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004955513:5,009,530...5,012,781
Ensembl chrNW_004955513:5,009,625...5,012,781 		JBrowse link
G Ptrh2 peptidyl-tRNA hydrolase 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955451:3,370,761...3,375,979
Ensembl chrNW_004955451:3,370,761...3,375,979 		JBrowse link
G Qsox2 quiescin 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 chrNW_004955513:4,438,078...4,463,276
Ensembl chrNW_004955513:4,438,015...4,463,319 		JBrowse link
G Rab9a RAB9A, 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 chrNW_004955519:4,489,159...4,496,089
Ensembl chrNW_004955519:4,489,159...4,496,089 		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 chrNW_004955513:4,904,659...4,923,225
Ensembl chrNW_004955513:4,904,958...4,922,599 		JBrowse link
G Rad51c RAD51 paralog C ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955451:4,053,195...4,178,226
Ensembl chrNW_004955451:4,145,226...4,178,487 		JBrowse link
G Rai1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955577:185,404...296,613
Ensembl chrNW_004955577:183,051...200,139 		JBrowse link
G Rasd1 ras related dexamethasone induced 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955577:452,993...454,659
Ensembl chrNW_004955577:452,993...454,713 		JBrowse link
G Rcor1 REST corepressor 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:26489029 NCBI chrNW_004955538:1,774,910...1,880,550
Ensembl chrNW_004955538:1,774,910...1,880,545 		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 syndrome 1 ClinVar PMID:9536098 PMID:16682973 PMID:16909394 PMID:17576681 PMID:19764032 More... NCBI chrNW_004955405:25,514,644...25,533,520
Ensembl chrNW_004955405:25,514,650...25,533,520 		JBrowse link
G Rnf112 ring finger protein 112 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955467:349,703...355,922
Ensembl chrNW_004955467:349,256...355,922 		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 chrNW_004955513:5,219,250...5,223,043
Ensembl chrNW_004955513:5,219,425...5,220,228 		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 chrNW_004955513:5,224,740...5,227,395
Ensembl chrNW_004955513:5,224,740...5,227,395 		JBrowse link
G Rnf43 ring finger protein 43 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955451:4,604,985...4,680,762
Ensembl chrNW_004955451:4,604,985...4,680,762 		JBrowse link
G Rnft1 ring finger protein, transmembrane 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955451:3,165,316...3,178,991
Ensembl chrNW_004955451:3,164,845...3,178,991 		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 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: 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 PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 More... NCBI chrNW_004955433:11,321,504...11,423,981
Ensembl chrNW_004955433:11,322,590...11,424,569 		JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955451:3,181,085...3,225,610 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 chrNW_004955513:5,086,379...5,090,876 JBrowse link
G Scpep1 serine carboxypeptidase 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955451:5,847,371...5,876,286
Ensembl chrNW_004955451:5,846,552...5,876,851 		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 chrNW_004955511:6,125,966...6,139,098
Ensembl chrNW_004955511:6,125,966...6,139,098 		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 chrNW_004955513:4,272,623...4,304,314
Ensembl chrNW_004955513:4,273,581...4,303,157 		JBrowse link
G Septin4 septin 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955451:4,505,318...4,530,387 JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955478:10,972,791...11,001,535
Ensembl chrNW_004955478:10,978,139...11,001,202 		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 chrNW_004955451:3,839,978...3,862,200 JBrowse link
G Slc34a3 solute carrier family 34 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 chrNW_004955513:5,228,575...5,233,501
Ensembl chrNW_004955513:5,228,598...5,234,128 		JBrowse link
G Slc5a10 solute carrier family 5 member 10 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955467:581,120...654,441
Ensembl chrNW_004955467:581,129...654,639 		JBrowse link
G Smcr8 SMCR8-C9orf72 complex subunit ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955478:11,002,174...11,015,123
Ensembl chrNW_004955478:11,002,174...11,015,123 		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 chrNW_004955451:3,803,325...3,809,055
Ensembl chrNW_004955451:3,803,196...3,809,389 		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 chrNW_004955513:4,330,579...4,349,136
Ensembl chrNW_004955513:4,330,293...4,350,012 		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 chrNW_004955513:4,767,591...4,771,654 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 chrNW_004955577:171,425...183,669
Ensembl chrNW_004955577:171,425...186,046 		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 chrNW_004955451:4,992,634...4,996,619
Ensembl chrNW_004955451:4,992,634...4,999,029 		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 chrNW_004955513:5,194,308...5,195,721
Ensembl chrNW_004955513:5,194,308...5,195,721 		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 chrNW_004955513:5,245,861...5,247,582
Ensembl chrNW_004955513:5,245,861...5,247,582 		JBrowse link
G Supt4h1 SPT4 homolog, DSIF elongation factor subunit ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955451:4,682,308...4,688,008
Ensembl chrNW_004955451:4,682,311...4,688,008 		JBrowse link
G Tapt1 transmembrane anterior posterior transformation 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955480:7,833,883...7,892,948
Ensembl chrNW_004955480:7,833,883...7,893,131 		JBrowse link
G Tbx2 T-box transcription factor 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955451:2,458,612...2,466,264
Ensembl chrNW_004955451:2,457,568...2,466,639 		JBrowse link
G Tbx4 T-box transcription factor 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955451:2,491,525...2,532,948
Ensembl chrNW_004955451:2,501,827...2,533,136 		JBrowse link
G Tceanc transcription elongation factor A 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 chrNW_004955519:4,532,687...4,537,928
Ensembl chrNW_004955519:4,532,937...4,538,442 		JBrowse link
G Tctn1 tectonic family member 1 ISO 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		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21725307 More... NCBI chrNW_004955482:7,504,554...7,533,605
Ensembl chrNW_004955482:7,504,532...7,528,542 		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: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:21462283 PMID:21565611 More... NCBI chrNW_004955482:5,344,113...5,362,519
Ensembl chrNW_004955482:5,342,821...5,362,426 		JBrowse link
G Tex14 testis expressed 14, intercellular bridge forming factor ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955451:4,206,114...4,296,969
Ensembl chrNW_004955451:4,179,591...4,297,024 		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 chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441 		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 chrNW_004955544:424,897...443,562
Ensembl chrNW_004955544:424,850...443,564 		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 chrNW_004955544:302,027...317,110
Ensembl chrNW_004955544:303,319...306,426 		JBrowse link
G Tmem138 transmembrane protein 138 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 NCBI chrNW_004955511:6,185,533...6,191,294
Ensembl chrNW_004955511:6,185,533...6,191,289 		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 chrNW_004955513:4,892,650...4,894,371
Ensembl chrNW_004955513:4,892,674...4,894,371 		JBrowse link
G Tmem17 transmembrane protein 17 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar NCBI chrNW_004955424:21,627,889...21,634,798
Ensembl chrNW_004955424:21,627,151...21,637,041 		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 chrNW_004955513:5,206,407...5,207,882
Ensembl chrNW_004955513:5,207,446...5,207,856 		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 chrNW_004955513:5,180,542...5,181,488
Ensembl chrNW_004955513:5,180,542...5,181,488 		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 chrNW_004955511:6,164,143...6,167,887
Ensembl chrNW_004955511:6,164,143...6,167,887 		JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:33791682 NCBI chrNW_004955412:26,149,816...26,166,470
Ensembl chrNW_004955412:26,151,452...26,166,470 		JBrowse link
G Tmem231 transmembrane protein 231 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955484:2,011,000...2,027,763
Ensembl chrNW_004955484:2,011,000...2,027,763 		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 chrNW_004955403:148,181...173,350
Ensembl chrNW_004955403:148,183...172,386 		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 chrNW_004955513:4,520,445...4,524,203
Ensembl chrNW_004955513:4,520,445...4,524,203 		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: 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:2929661 PMID:8862632 PMID:9375913 PMID:9536098 PMID:10567047 More... NCBI chrNW_004955417:10,097,488...10,137,959
Ensembl chrNW_004955417:10,097,472...10,138,644 		JBrowse link
G Tmsb4x thymosin beta 4 X-linked ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 More... NCBI chrNW_004955544:266,397...268,447
Ensembl chrNW_004955544:266,397...268,447 		JBrowse link
G Tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:19764032 PMID:23954617 PMID:27821535 PMID:28492532 NCBI chrNW_004955405:25,607,134...25,646,050
Ensembl chrNW_004955405:25,606,414...25,646,050 		JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955577:930,612...971,698 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 chrNW_004955409:16,885,564...16,967,865
Ensembl chrNW_004955409:16,886,423...16,967,641 		JBrowse link
G Tom1l2 target of myb1 like 2 membrane trafficking protein ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955577:93,877...153,381
Ensembl chrNW_004955577:93,480...153,437 		JBrowse link
G Top3a DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955478:11,015,378...11,045,717
Ensembl chrNW_004955478:11,015,378...11,045,717 		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 chrNW_004955513:5,263,299...5,265,622
Ensembl chrNW_004955513:5,264,066...5,265,386 		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 chrNW_004955513:5,196,871...5,205,945
Ensembl chrNW_004955513:5,197,280...5,203,445 		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 chrNW_004955513:4,964,692...4,984,359
Ensembl chrNW_004955513:4,967,984...4,983,987 		JBrowse link
G Trappc2 trafficking protein particle complex subunit 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 chrNW_004955519:4,470,906...4,485,969 JBrowse link
G Trim25 tripartite motif containing 25 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955451:5,918,287...5,934,252
Ensembl chrNW_004955451:5,918,287...5,934,258 		JBrowse link
G Trim37 tripartite motif containing 37 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955451:3,839,757...4,014,178
Ensembl chrNW_004955451:3,878,416...3,989,208 		JBrowse link
G Tspoap1 TSPO associated protein 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955451:4,707,440...4,733,179
Ensembl chrNW_004955451:4,707,458...4,730,257 		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 chrNW_004955449:8,242,327...8,306,012
Ensembl chrNW_004955449:8,241,990...8,308,562 		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 chrNW_004955513:5,237,050...5,239,370
Ensembl chrNW_004955513:5,235,629...5,239,370 		JBrowse link
G Tubd1 tubulin delta 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955451:3,225,728...3,249,013
Ensembl chrNW_004955451:3,226,835...3,248,085 		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 chrNW_004955513:5,095,744...5,101,170
Ensembl chrNW_004955513:5,095,068...5,101,289 		JBrowse link
G Ubac1 UBA 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 chrNW_004955513:4,620,978...4,640,318
Ensembl chrNW_004955513:4,621,242...4,640,318 		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 chrNW_004955406:1,837,831...2,499,664
Ensembl chrNW_004955406:1,838,885...2,496,980 		JBrowse link
G Usp32 ubiquitin specific peptidase 32 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955451:1,511,687...1,678,546 JBrowse link
G Vezf1 vascular endothelial zinc finger 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955451:5,014,310...5,031,080
Ensembl chrNW_004955451:5,014,218...5,032,225 		JBrowse link
G Vmp1 vacuole membrane protein 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955451:3,265,109...3,370,610
Ensembl chrNW_004955451:3,265,109...3,370,610 		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 chrNW_004955424:20,723,592...21,114,801 JBrowse link
G Ypel2 yippee like 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004955451:3,644,951...3,698,658
Ensembl chrNW_004955451:3,641,887...3,704,658 		JBrowse link
G Zmynd19 zinc finger MYND-type 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 chrNW_004955513:5,452,399...5,458,258
Ensembl chrNW_004955513:5,452,360...5,458,464 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14315
    sensory system disease 6525
      eye disease 3374
        Eye Abnormalities 763
          Joubert syndrome 1 228
Path 2
Term Annotations click to browse term
  disease 14315
    Developmental Disease 12567
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11796
        genetic disease 11521
          monogenic disease 9861
            ciliopathy 960
              Joubert syndrome 387
                Joubert syndrome 1 228
paths to the root