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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


show annotations for term's descendants           Sort by:
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 chr 9:108,067,633...108,089,742
Ensembl chr 9:137,036,696...137,057,776 		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 9:107,749,195...107,763,033
Ensembl chr 9:136,722,914...136,737,286 		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 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:3196484 PMID:9536098 PMID:15322546 PMID:15467982 PMID:16155189 More... NCBI chr 6:133,055,026...133,273,591
Ensembl chr 6:137,156,237...137,361,232 		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 chr 9:107,898,222...107,908,125 JBrowse link
G AKAP1 A-kinase anchoring protein 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:51,162,993...51,199,202
Ensembl chr17:56,023,381...56,058,744 		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 chr17:31,455,386...31,482,985
Ensembl chr17:36,599,835...36,628,102 		JBrowse link
G ALKBH5 alkB homolog 5, RNA demethylase ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:32,725,632...32,753,021
Ensembl chr17:38,003,362...38,030,715 		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 9:108,234,949...108,248,227
Ensembl chr 9:137,204,356...137,217,652 		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 chr17:54,528,229...54,611,458
Ensembl chr17:59,655,186...59,737,779 		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 chr 3:91,044,332...91,121,686
Ensembl chr 3:97,725,136...97,799,932 		JBrowse link
G ARMC9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar PMID:25741868 PMID:28492532 PMID:28625504 PMID:31474318 PMID:39033378 NCBI chr2B:118,454,310...118,644,303
Ensembl chr2B:237,243,120...237,412,620 		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 9:108,711,276...108,720,942
Ensembl chr 9:137,664,787...137,668,688 		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 chr12:121,297,959...121,343,294
Ensembl chr12:125,522,886...125,569,858 		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 chr17:33,256,239...33,280,360
Ensembl chr17:38,203,888...38,224,911 		JBrowse link
G ATXN3L ataxin 3 like 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:5,926,746...5,928,272
Ensembl chr  X:13,215,418...13,216,485 		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: Joubert-Boltshauser syndrome		 ClinVar PMID:9536098 PMID:16007087 PMID:16199547 PMID:17576681 PMID:21493627 More... NCBI chr17:31,735,065...31,779,454
Ensembl chr17:36,914,969...36,941,391 		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 chr19:38,347,505...38,357,319
Ensembl chr19:46,853,954...46,864,014 		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 chr17:54,776,768...55,494,917
Ensembl chr17:59,901,453...60,613,732 		JBrowse link
G BRIP1 BRCA1 interacting DNA helicase 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:55,786,568...55,973,366
Ensembl chr17:60,901,073...61,083,462 		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 4:10,154,453...10,183,448
Ensembl chr 4:15,451,958...15,480,195 		JBrowse link
G C10H12orf50 chromosome 10 C12orf50 homolog ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16682973 PMID:16909394 PMID:19764032 PMID:23954617 PMID:27821535 More... NCBI chr12:85,521,276...85,571,715
Ensembl chr12:88,827,774...88,877,008 		JBrowse link
G C19H17orf67 chromosome 19 C17orf67 homolog ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:50,869,206...50,912,963 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 PMID:28492532 NCBI chr11:69,085,434...69,244,791 JBrowse link
G C8G complement C8 gamma chain 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 9:108,003,376...108,005,648
Ensembl chr 9:136,974,556...136,976,152 		JBrowse link
G CA4 carbonic anhydrase 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:54,236,114...54,258,638 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 chr 9:108,989,621...109,256,841 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 9:106,881,023...106,979,501
Ensembl chr 9:135,866,980...135,944,911 		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 9:107,432,709...107,446,271
Ensembl chr 9:136,416,279...136,424,756 		JBrowse link
G CBY1 chibby 1, beta catenin antagonist ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:33131181 NCBI chr22:19,571,658...19,588,872
Ensembl chr22:37,389,948...37,406,879 		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 4:9,904,237...10,047,440
Ensembl chr 4:15,204,326...15,349,281 		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 9:107,853,783...107,865,565
Ensembl chr 9:136,824,266...136,835,166 		JBrowse link
G CD38 CD38 molecule ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr 4:10,228,803...10,295,129
Ensembl chr 4:15,525,835...15,587,677 		JBrowse link
G CEP104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 NCBI chr 1:2,485,711...2,529,745
Ensembl chr 1:3,606,659...3,648,832 		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: 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: 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 chr12:85,589,911...85,683,365
Ensembl chr12:88,896,146...88,988,044 		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 7:122,360,248...122,406,260
Ensembl chr 7:134,880,086...134,924,657 		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 chr17:54,506,270...54,516,481
Ensembl chr17:59,634,708...59,643,632 		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 9:108,303,199...108,310,953
Ensembl chr 9:137,271,636...137,275,827 		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 9:108,054,934...108,057,100
Ensembl chr 9:137,023,505...137,025,361 		JBrowse link
G CLTC clathrin heavy chain ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:53,685,865...53,761,008
Ensembl chr17:58,529,750...58,603,636 		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 chr16:2,423,563...2,461,486
Ensembl chr16:3,600,370...3,637,622 		JBrowse link
G COIL coilin ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:51,015,403...51,038,276
Ensembl chr17:55,877,098...55,898,827 		JBrowse link
G COPS3 COP9 signalosome subunit 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:34,013,180...34,047,546
Ensembl chr17:38,944,618...38,978,235 		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 chr 5:73,122,305...73,265,343
Ensembl chr 5:78,402,466...78,544,807 		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 chr11:56,702,510...56,729,316
Ensembl chr11:60,065,832...60,092,720 		JBrowse link
G CUEDC1 CUE domain containing 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:51,941,043...52,034,948
Ensembl chr17:56,798,556...56,822,922 		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 9:108,284,155...108,285,850
Ensembl chr 9:137,252,943...137,254,611 		JBrowse link
G DGKE diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:50,912,079...50,946,655
Ensembl chr17:55,773,896...55,802,485 		JBrowse link
G DHX40 DEAH-box helicase 40 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:53,631,673...53,674,374
Ensembl chr17:58,475,390...58,518,415 		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 9:107,786,349...107,798,873
Ensembl chr 9:136,760,243...136,769,833 		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 9:107,432,709...107,436,360 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 chr 9:108,635,082...108,680,315
Ensembl chr 9:137,597,639...137,627,279 		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 chr 9:108,170,361...108,189,498 JBrowse link
G DRC3 dynein regulatory complex subunit 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:33,278,528...33,324,351
Ensembl chr17:38,226,305...38,272,013 		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 chr17:52,161,701...52,169,538
Ensembl chr17:57,021,357...57,025,750 		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 9:107,919,200...107,923,415
Ensembl chr 9:136,889,383...136,891,133 		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:6,177,141...6,240,969
Ensembl chr  X:13,465,605...13,529,474 		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 chr 9:107,735,192...107,748,729
Ensembl chr 9:136,708,783...136,722,448 		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 chr 9:108,724,568...108,951,077
Ensembl chr 9:137,764,950...137,895,564 		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 chr12:121,206,380...121,218,749
Ensembl chr12:125,433,227...125,446,665 		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 9:108,108,780...108,114,806
Ensembl chr 9:137,077,207...137,083,031 		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 9:108,503,511...108,511,822
Ensembl chr 9:137,468,154...137,472,092 		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 9:107,474,676...107,483,625
Ensembl chr 9:136,454,597...136,463,414 		JBrowse link
G EPN2 epsin 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:31,777,430...31,874,469
Ensembl chr17:36,942,381...37,038,509 		JBrowse link
G EPX eosinophil peroxidase ISO ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar PMID:28492532 NCBI chr17:52,269,114...52,281,471
Ensembl chr17:57,124,924...57,136,992 		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 chr 9:108,366,206...108,490,346
Ensembl chr 9:137,336,229...137,427,312 		JBrowse link
G EXOC8 exocyst complex component 8 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:22700954 NCBI chr 1:206,884,334...206,889,753
Ensembl chr 1:211,911,802...211,913,979 		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 chr10:69,714,749...69,789,835
Ensembl chr10:72,175,085...72,249,611 		JBrowse link
G FAM200B family with sequence similarity 200 member B ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr 4:10,133,786...10,142,585
Ensembl chr 4:15,435,995...15,437,968 		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 chr17:32,237,065...32,273,015
Ensembl chr17:37,169,509...37,204,872 		JBrowse link
G FAM9C family with sequence similarity 9 member C 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:5,647,848...5,657,551
Ensembl chr  X:12,936,617...12,945,919 		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 4:10,050,909...10,107,573
Ensembl chr 4:15,348,977...15,430,631 		JBrowse link
G FBXW10 F-box and WD repeat domain containing 10 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532
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 chr 9:107,998,949...108,003,247
Ensembl chr 9:136,969,957...136,973,945 		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 4:10,374,303...10,377,210
Ensembl chr 4:15,671,516...15,672,220 		JBrowse link
G FGFBP2 fibroblast growth factor binding protein 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr 4:10,397,233...10,400,420
Ensembl chr 4:15,696,356...15,697,027 		JBrowse link
G FLCN folliculin ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:34,057,127...34,081,637
Ensembl chr17:38,988,518...39,013,160 		JBrowse link
G FLII FLII actin remodeling protein ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:32,789,717...32,803,661
Ensembl chr17:37,949,994...37,965,414 		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 chr16:33,939,300...34,343,419
Ensembl chr16:53,023,425...53,490,231 		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 9:108,090,793...108,093,513
Ensembl chr 9:137,058,831...137,061,607 		JBrowse link
G GDPD1 glycerophosphodiester phosphodiesterase domain containing 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:53,290,496...53,345,584
Ensembl chr17:58,138,432...58,191,986 		JBrowse link
G GID4 GID complex subunit 4 homolog ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:33,226,374...33,256,146 JBrowse link
G GLT6D1 glycosyltransferase 6 domain containing 1 ISO ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:106,714,367...106,717,245
Ensembl chr 9:135,705,743...135,708,268 		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 chr 9:107,400,819...107,432,165
Ensembl chr 9:136,383,929...136,410,561 		JBrowse link
G GRAP GRB2 related adaptor protein ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:32,215,214...32,219,802 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 chr 9:108,198,350...108,228,887
Ensembl chr 9:137,168,722...137,197,382 		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 chr12:121,218,813...121,246,807
Ensembl chr12:125,445,381...125,473,763 		JBrowse link
G HEATR6 HEAT repeat containing 6 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:54,128,106...54,163,931
Ensembl chr17:59,262,926...59,299,599 		JBrowse link
G HSF5 heat shock transcription factor 5 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:52,495,458...52,563,332
Ensembl chr17:57,352,414...57,416,968 		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 chr2A:27,448,139...27,492,302
Ensembl chr2A:27,536,534...27,580,406 		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 chr 9:107,502,838...107,516,325
Ensembl chr 9:136,483,144...136,492,731 		JBrowse link
G IRX3 iroquois homeobox 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:17558409 PMID:28492532 NCBI chr16:34,514,107...34,517,576
Ensembl chr16:53,622,409...53,624,653 		JBrowse link
G IRX5 iroquois homeobox 5 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:17558409 PMID:28492532 NCBI chr16:35,164,884...35,168,189
Ensembl chr16:54,272,412...54,275,124 		JBrowse link
G IRX6 iroquois homeobox 6 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:17558409 PMID:28492532 NCBI chr16:35,556,558...35,563,568
Ensembl chr16:54,662,732...54,669,745 		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 Ensembl chr16:27,918,816...28,148,543 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 chr 9:106,773,184...106,867,490
Ensembl chr 9:135,763,956...135,852,482 		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 chr14:39,019,518...39,139,460
Ensembl chr14:57,288,938...57,405,726 		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 chr15:68,312,064...68,349,864
Ensembl chr15:87,529,290...87,553,445 		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 chr12:86,036,501...86,124,274
Ensembl chr12:89,341,921...89,436,758 		JBrowse link
G LCN1 lipocalin 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 9:106,662,265...106,667,575
Ensembl chr 9:135,654,722...135,659,869 		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 9:108,008,222...108,014,028
Ensembl chr 9:136,981,665...136,984,643 		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 9:107,818,230...107,828,652
Ensembl chr 9:136,788,329...136,794,304 		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 9:107,811,520...107,817,297
Ensembl chr 9:136,783,245...136,787,178 		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...
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 chr 9:108,043,835...108,045,585
Ensembl chr 9:137,012,430...137,013,864 		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 chr 9:107,271,131...107,280,001
Ensembl chr 9:136,252,880...136,260,366 		JBrowse link
G LINC02875 long intergenic non-protein coding RNA 2875 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:55,513,679...55,515,363 JBrowse link
G LINC02908 long intergenic non-protein coding RNA 2908 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 9:108,093,280...108,097,369 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 chr17:32,770,511...32,789,756
Ensembl chr17:37,966,100...37,985,103 		JBrowse link
G LOC100971960 unconventional myosin-XV ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:32,661,499...32,723,320 JBrowse link
G LOC100974743 lysosomal membrane ascorbate-dependent ferrireductase CYB561A3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 NCBI chr11:56,648,322...56,661,758
Ensembl chr11:60,013,043...60,026,207 		JBrowse link
G LOC100976912 uncharacterized protein C9orf163 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 9:107,561,734...107,562,397 JBrowse link
G LOC100988353 septin-4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:52,595,185...52,607,020
Ensembl chr17:57,448,904...57,472,690 		JBrowse link
G LOC100994060 developmentally-regulated GTP-binding protein 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:33,187,571...33,206,833 JBrowse link
G LOC100994150 olfactory receptor 4D1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:52,231,293...52,232,510 JBrowse link
G LOC100995879 olfactory receptor 4D2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:52,245,813...52,246,736 JBrowse link
G LPO lactoperoxidase ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:52,315,674...52,344,007
Ensembl chr17:57,171,310...57,199,735 		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 9:108,228,889...108,230,178
Ensembl chr 9:137,198,298...137,199,602 		JBrowse link
G LRRC34 leucine rich repeat containing 34 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar NCBI chr 3:166,807,315...166,826,740
Ensembl chr 3:174,860,946...174,880,319 		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 9:107,908,156...107,917,883
Ensembl chr 9:136,878,324...136,888,065 		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 9:108,148,020...108,168,931
Ensembl chr 9:137,118,361...137,139,066 		JBrowse link
G MAPK7 mitogen-activated protein kinase 7 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:31,729,429...31,736,216
Ensembl chr17:36,894,146...36,899,969 		JBrowse link
G MED9 mediator complex subunit 9 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:33,802,916...33,819,107
Ensembl chr17:38,749,397...38,765,618 		JBrowse link
G MFAP4 microfibril associated protein 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:31,725,732...31,729,528
Ensembl chr17:36,890,778...36,893,230 		JBrowse link
G MICALL2 MICAL like 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar NCBI chr 7:1,676,677...1,708,475
Ensembl chr 7:1,801,760...1,827,258 		JBrowse link
G MIEF2 mitochondrial elongation factor 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:32,805,453...32,810,668
Ensembl chr17:37,944,215...37,949,451 		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: 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:16415886 PMID:17185389 PMID:17377820 More... NCBI chr17:52,281,443...52,295,919
Ensembl chr17:57,137,254...57,151,328 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:17558409 PMID:28492532 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279 		JBrowse link
G MPO myeloperoxidase ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:52,333,882...52,357,838
Ensembl chr17:57,201,073...57,212,111 		JBrowse link
G MPRIP myosin phosphatase Rho interacting protein ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:34,101,451...34,251,475
Ensembl chr17:39,040,719...39,182,578 		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 9:108,631,543...108,632,733 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 9:106,640,673...106,645,374
Ensembl chr 9:135,633,900...135,637,926 		JBrowse link
G MRPS23 mitochondrial ribosomal protein S23 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:51,917,574...51,929,577
Ensembl chr17:56,775,846...56,787,058 		JBrowse link
G MSI2 musashi RNA binding protein 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:51,335,550...51,763,572
Ensembl chr17:56,194,360...56,613,698 		JBrowse link
G MTMR4 myotubularin related protein 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:52,564,455...52,592,899
Ensembl chr17:57,418,229...57,446,545 		JBrowse link
G NACA2 nascent polypeptide associated complex subunit alpha 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:55,691,986...55,692,801
Ensembl chr17:60,810,599...60,811,246 		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 chr 9:107,079,113...107,168,332
Ensembl chr 9:136,066,229...136,105,176 		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 9:108,265,305...108,278,923
Ensembl chr 9:137,233,940...137,247,716 		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 9:108,314,535...108,333,050
Ensembl chr 9:137,278,964...137,301,751 		JBrowse link
G NOG noggin ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:50,669,186...50,671,081
Ensembl chr17:55,532,394...55,533,092 		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 chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740 		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 9:108,490,455...108,503,555
Ensembl chr 9:137,455,874...137,468,196 		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 9:108,100,164...108,107,324
Ensembl chr 9:137,068,846...137,072,257 		JBrowse link
G NPHP1 nephrocystin 1 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:24746959 PMID:25741868 PMID:28492532 NCBI chr2A:91,520,612...91,602,187
Ensembl chr2A:111,625,267...111,706,205 		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 9:108,358,959...108,361,586 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 9:108,518,698...108,531,316
Ensembl chr 9:137,482,420...137,495,990 		JBrowse link
G NT5M 5',3'-nucleotidase, mitochondrial ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:33,948,270...33,991,485 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: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: 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:6,296,597...6,376,197
Ensembl chr  X:13,611,304...13,664,512 		JBrowse link
G PAEP progestagen associated endometrial 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 9:106,669,550...106,681,918 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 chr 9:108,052,793...108,055,298
Ensembl chr 9:137,021,230...137,022,805 		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 8:90,541,269...90,550,554
Ensembl chr 8:92,486,271...92,494,714 		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 chr16:54,868,840...54,919,077 JBrowse link
G PEMT phosphatidylethanolamine N-methyltransferase ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:33,703,800...33,790,470
Ensembl chr17:38,651,024...38,737,202 		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 9:107,906,160...107,908,130 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 chr13:54,011,239...54,247,952
Ensembl chr13:72,788,608...73,022,473 		JBrowse link
G PLD6 phospholipase D family member 6 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:34,084,634...34,091,470
Ensembl chr17:39,016,859...39,023,398 		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 chr 9:107,483,608...107,499,176
Ensembl chr 9:136,464,070...136,477,569 		JBrowse link
G PNPLA7 patatin like domain 7, lysophospholipase 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 9:108,531,917...108,631,119
Ensembl chr 9:137,496,924...137,593,154 		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 chr17:54,698,338...54,761,889
Ensembl chr17:59,824,566...59,887,015 		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 chr17:52,832,291...53,057,157
Ensembl chr17:57,874,629...57,903,205 		JBrowse link
G PROM1 prominin 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr 4:10,405,299...10,519,518
Ensembl chr 4:15,702,159...15,815,454 		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 chr17:32,316,289...32,392,531
Ensembl chr17:37,247,504...37,320,704 		JBrowse link
G PRR11 proline rich 11 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:53,227,110...53,275,377
Ensembl chr17:58,076,210...58,122,353 		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 chr 9:108,037,994...108,042,136
Ensembl chr 9:137,006,601...137,009,680 		JBrowse link
G PTRH2 peptidyl-tRNA hydrolase 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:53,763,222...53,773,191
Ensembl chr17:58,605,850...58,615,809 		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 chr 9:107,281,207...107,320,420
Ensembl chr 9:136,261,578...136,282,774 		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 chr  X:6,296,483...6,317,826
Ensembl chr  X:13,604,454...13,605,059 		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 9:107,865,764...107,898,073
Ensembl chr 9:136,849,527...136,868,545 		JBrowse link
G RAD51C RAD51 paralog C ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:52,769,446...52,808,467
Ensembl chr17:57,621,552...57,660,701 		JBrowse link
G RAI1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:33,484,543...33,614,608
Ensembl chr17:38,431,946...38,461,861 		JBrowse link
G RASD1 ras related dexamethasone induced 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:33,799,204...33,801,652
Ensembl chr17:38,744,157...38,748,134 		JBrowse link
G RCOR1 REST corepressor 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:26489029 NCBI chr14:83,209,992...83,346,783 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 chr12:85,576,750...85,591,510
Ensembl chr12:88,878,836...88,897,291 		JBrowse link
G RNF112 ring finger protein 112 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:31,688,381...31,701,675
Ensembl chr17:36,860,202...36,894,877 		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 9:108,279,801...108,281,695
Ensembl chr 9:137,248,765...137,249,550 		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 9:108,287,236...108,289,186
Ensembl chr 9:137,255,866...137,257,947 		JBrowse link
G RNF43 ring finger protein 43 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:52,420,516...52,492,813
Ensembl chr17:57,276,761...57,347,748 		JBrowse link
G RNFT1 ring finger protein, transmembrane 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:54,016,689...54,029,100
Ensembl chr17:58,858,416...58,869,908 		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: 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 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:3442652 PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 More... NCBI chr16:33,836,361...33,939,265
Ensembl chr16:52,920,796...53,023,174 		JBrowse link
G RPS6KB1 ribosomal protein S6 kinase B1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:53,958,807...54,014,752
Ensembl chr17:58,799,069...58,853,653 		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 9:108,122,658...108,132,397 JBrowse link
G SCPEP1 serine carboxypeptidase 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:51,055,293...51,084,032
Ensembl chr17:55,915,746...55,944,377 		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 chr11:56,729,314...56,746,075
Ensembl chr11:60,093,656...60,110,288 		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 9:107,516,556...107,560,930
Ensembl chr 9:136,493,957...136,533,655 		JBrowse link
G SHMT1 serine hydroxymethyltransferase 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:32,870,949...32,905,690
Ensembl chr17:37,849,206...37,884,220 		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 chr17:53,181,345...53,226,761
Ensembl chr17:58,030,137...58,076,113 		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 chr 9:108,290,905...108,296,186
Ensembl chr 9:137,259,243...137,264,947 		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 chr17:31,532,821...31,577,523
Ensembl chr17:36,695,965...36,741,618 		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 chr17:32,219,877...32,289,598
Ensembl chr17:37,152,047...37,221,554 		JBrowse link
G SMCR8 SMCR8-C9orf72 complex subunit ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:32,858,205...32,871,132
Ensembl chr17:37,884,037...37,896,972 		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 chr17:53,279,808...53,285,377
Ensembl chr17:58,127,969...58,133,370 		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 9:107,448,180...107,473,022
Ensembl chr 9:136,428,732...136,450,653 		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 9:106,765,101...106,786,836
Ensembl chr 9:135,755,100...135,761,228 		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 chr17:33,458,196...33,484,643
Ensembl chr17:38,405,794...38,432,045 		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 chr17:52,083,676...52,087,454
Ensembl chr17:56,937,295...56,944,425 		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 9:108,248,263...108,250,002
Ensembl chr 9:137,217,653...137,219,406 		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 9:108,310,511...108,314,233
Ensembl chr 9:137,278,844...137,282,670 		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 chr17:52,420,503...52,427,514 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 4:10,589,166...10,654,951
Ensembl chr 4:15,886,080...15,938,594 		JBrowse link
G TBX2 T-box transcription factor 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:55,501,932...55,511,537
Ensembl chr17:60,622,098...60,630,189 		JBrowse link
G TBX4 T-box transcription factor 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:55,554,549...55,587,253
Ensembl chr17:60,677,518...60,705,413 		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 chr  X:6,260,394...6,272,125
Ensembl chr  X:13,558,284...13,559,339 		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 chr12:108,182,496...108,232,202
Ensembl chr12:111,577,755...111,610,754 		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-Boltshauser syndrome
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:21462283 PMID:21565611 More... NCBI chr12:121,256,675...121,293,997
Ensembl chr12:125,482,294...125,518,903 		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 chr17:52,627,335...52,768,926
Ensembl chr17:57,480,369...57,621,055 		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 chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973 		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:5,479,247...5,504,810
Ensembl chr  X:12,767,981...12,790,517 		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:5,518,742...5,535,304 JBrowse link
G TMEM138 transmembrane protein 138 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 NCBI chr11:56,661,892...56,677,503
Ensembl chr11:60,025,927...60,033,090 		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 9:107,849,421...107,851,438 JBrowse link
G TMEM17 transmembrane protein 17 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar NCBI chr2A:62,580,872...62,587,936
Ensembl chr2A:63,710,004...63,716,422 		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 9:108,252,170...108,265,276
Ensembl chr 9:137,233,273...137,233,683 		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 9:108,231,003...108,232,819
Ensembl chr 9:137,200,480...137,201,612 		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 chr11:56,691,461...56,698,723
Ensembl chr11:60,055,400...60,062,051 		JBrowse link
G TMEM218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:33791682 NCBI chr11:119,924,220...119,938,931
Ensembl chr11:123,839,054...123,843,682 		JBrowse link
G TMEM231 transmembrane protein 231 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:28492532 NCBI chr16:56,107,360...56,126,172
Ensembl chr16:75,455,303...75,473,874 		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 chr2B:88,873,362...88,896,689
Ensembl chr2B:207,028,061...207,051,206 		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 9:107,187,362...107,191,642
Ensembl chr 9:136,170,880...136,171,292 		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: 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 PMID:2929661 PMID:8862632 PMID:9375913 PMID:9536098 PMID:10567047 More... NCBI chr 8:90,378,623...90,442,904
Ensembl chr 8:92,324,402...92,387,437 		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 chr  X:5,587,242...5,589,417 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 chr12:85,683,455...85,741,118
Ensembl chr12:88,989,033...89,046,630 		JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:34,321,121...34,355,020
Ensembl chr17:39,252,858...39,292,053 		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 chr14:25,579,069...25,691,273
Ensembl chr14:43,907,049...44,018,042 		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 chr17:33,324,590...33,451,688
Ensembl chr17:38,272,362...38,399,178 		JBrowse link
G TOP3A DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:32,814,448...32,858,076
Ensembl chr17:37,897,037...37,936,135 		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 9:108,337,814...108,342,723
Ensembl chr 9:137,307,626...137,310,283 		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 9:108,251,235...108,261,541 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 9:107,938,935...107,984,797
Ensembl chr 9:136,917,358...136,955,331 		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 chr  X:6,321,264...6,341,650
Ensembl chr  X:13,609,852...13,629,916 		JBrowse link
G TRIM25 tripartite motif containing 25 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:50,965,592...50,991,630
Ensembl chr17:55,826,458...55,852,422 		JBrowse link
G TRIM37 tripartite motif containing 37 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:53,070,235...53,178,209
Ensembl chr17:57,904,813...58,027,100 		JBrowse link
G TSPOAP1 TSPO associated protein 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:52,376,707...52,404,160
Ensembl chr17:57,232,244...57,259,669 		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 chr2B:53,140,199...53,220,535
Ensembl chr2B:170,616,444...170,699,471 		JBrowse link
G TUBB4B tubulin beta 4B class IVb ISO ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,300,868...108,303,321
Ensembl chr 9:137,268,942...137,271,758 		JBrowse link
G TUBD1 tubulin delta 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:53,925,234...53,958,706
Ensembl chr17:58,766,864...58,798,842 		JBrowse link
G TVP23B trans-golgi network vesicle protein 23 homolog B ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532
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 9:108,138,569...108,145,644
Ensembl chr 9:137,108,764...137,115,793 		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 chr 9:107,004,643...107,033,286
Ensembl chr 9:135,988,020...136,016,046 		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 1:191,193,130...191,994,664
Ensembl chr 1:196,048,086...196,850,216 		JBrowse link
G USP32 ubiquitin specific peptidase 32 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:54,263,343...54,477,162 JBrowse link
G VEZF1 vascular endothelial zinc finger 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:52,051,766...52,068,415
Ensembl chr17:56,908,627...56,923,740 		JBrowse link
G VMP1 vacuole membrane protein 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:53,773,215...53,907,992
Ensembl chr17:58,639,423...58,745,855 		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 chr2A:63,180,279...63,658,804
Ensembl chr2A:64,325,379...64,785,256 		JBrowse link
G YPEL2 yippee like 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:53,400,950...53,470,434
Ensembl chr17:58,246,304...58,316,099 		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 chr 9:108,682,634...108,696,671
Ensembl chr 9:137,630,101...137,642,871 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15835
    sensory system disease 7070
      eye disease 3627
        Eye Abnormalities 808
          Joubert syndrome 1 244
Path 2
Term Annotations click to browse term
  disease 15835
    Developmental Disease 13863
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12952
        genetic disease 12652
          monogenic disease 10860
            ciliopathy 1032
              Joubert syndrome 417
                Joubert syndrome 1 244
paths to the root