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cerebellar hypoplasia - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:cerebellar hypoplasia
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Accession:DOID:0070338 term browser browse the term
Definition:A cerebellar disease that is characterized by a cerebellum that is smaller than usual or not completely developed. (DO)
Synonyms:exact_synonym: congenital cerebellar hypoplasia
 primary_id: MESH:C562568
 xref: GARD:1194;   NCI:C98890


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cerebellar hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G M 2700049A03Rik RIKEN cDNA 2700049A03 gene ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:20301500 PMID:24033266 PMID:25741868 PMID:25807282 PMID:26026149 More... NCBI chr12:71,183,627...71,356,273
Ensembl chr12:71,183,622...71,290,077
JBrowse link
G N Ahdc1 AT-hook DNA binding motif containing 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chrNW_004624764:11,416,674...11,482,622
Ensembl chrNW_004624764:11,416,674...11,482,601
JBrowse link
G G AHDC1 AT-hook DNA binding motif containing 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr20:105,187,943...105,257,767
Ensembl chr20:105,239,747...105,244,558
JBrowse link
G P AHDC1 AT-hook DNA binding motif containing 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 6:84,735,253...84,774,554
Ensembl chr 6:84,735,253...84,802,456
JBrowse link
G S Ahdc1 AT-hook DNA binding motif containing 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chrNW_004936474:11,824,692...11,846,355
Ensembl chrNW_004936474:11,824,697...11,876,817
JBrowse link
G D AHDC1 AT-hook DNA binding motif containing 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 2:72,711,626...72,762,802
Ensembl chr 2:72,747,701...72,752,605
JBrowse link
G B AHDC1 AT-hook DNA binding motif containing 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 1:26,794,800...26,864,669 JBrowse link
G C Ahdc1 AT-hook DNA binding motif containing 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chrNW_004955452:6,767,250...6,832,989
Ensembl chrNW_004955452:6,767,266...6,832,868
JBrowse link
G R Ahdc1 AT hook, DNA binding motif, containing 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 5:150,512,182...150,578,804
Ensembl chr 5:145,228,227...145,294,145
JBrowse link
G M Ahdc1 AT hook, DNA binding motif, containing 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 4:132,738,797...132,805,421
Ensembl chr 4:132,738,571...132,805,421
JBrowse link
G H AHDC1 AT-hook DNA binding motif containing 1 IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 1:27,534,245...27,604,227
Ensembl chr 1:27,534,035...27,604,431
JBrowse link
G N Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624764:10,672,673...10,759,634
Ensembl chrNW_004624764:10,672,735...10,759,634
JBrowse link
G G ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr20:105,981,549...106,066,093
Ensembl chr20:105,981,290...106,065,672
JBrowse link
G P ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,087...84,123,349
JBrowse link
G S Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936474:11,148,857...11,197,312 JBrowse link
G D ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102
JBrowse link
G B ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239
JBrowse link
G C Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955452:6,068,631...6,120,759
Ensembl chrNW_004955452:6,068,631...6,120,759
JBrowse link
G R Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:145,908,181...145,985,564
JBrowse link
G M Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080
JBrowse link
G H ARID1A AT-rich interaction domain 1A IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
JBrowse link
G N Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chrNW_004624785:970,169...1,417,847
Ensembl chrNW_004624785:973,003...1,417,853
JBrowse link
G G ARID1B AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr13:84,351,298...84,799,691 JBrowse link
G P ARID1B AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr 1:9,791,627...10,227,381
Ensembl chr 1:9,791,633...10,227,502
JBrowse link
G S Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chrNW_004936489:8,811,094...9,202,423
Ensembl chrNW_004936489:9,087,697...9,205,203
JBrowse link
G D ARID1B AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr 1:46,370,621...46,800,531
Ensembl chr 1:46,372,767...46,799,104
JBrowse link
G B ARID1B AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr 6:154,581,148...155,018,706 JBrowse link
G C Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chrNW_004955439:5,041,111...5,454,692
Ensembl chrNW_004955439:5,043,967...5,412,741
JBrowse link
G R Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr 1:47,973,199...48,328,793
Ensembl chr 1:45,563,623...45,923,493
JBrowse link
G M Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr17:5,044,481...5,397,931
Ensembl chr17:5,044,607...5,397,931
JBrowse link
G H ARID1B AT-rich interaction domain 1B IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
JBrowse link
G G ATAD3A ATPase family AAA domain containing 3A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31727539 NCBI chr20:129,965,964...129,987,866 JBrowse link
G D ATAD3A ATPase family AAA domain containing 3A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31727539 NCBI chr 5:56,587,385...56,613,475
Ensembl chr 5:56,587,428...56,612,746
JBrowse link
G R Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31727539 NCBI chr 5:171,632,545...171,652,725
Ensembl chr 5:166,350,304...166,370,482
JBrowse link
G M Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31727539 NCBI chr 4:155,825,097...155,845,579
Ensembl chr 4:155,825,098...155,845,550
JBrowse link
G H ATAD3A ATPase family AAA domain containing 3A IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31727539 NCBI chr 1:1,512,162...1,534,685
Ensembl chr 1:1,512,162...1,534,685
JBrowse link
G N Auts2 activator of transcription and developmental regulator AUTS2 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chrNW_004624740:10,339,411...11,463,292
Ensembl chrNW_004624740:10,341,274...10,367,075
JBrowse link
G G AUTS2 activator of transcription and developmental regulator AUTS2 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr28:4,565,958...5,759,088
Ensembl chr28:4,567,622...4,595,056
JBrowse link
G P AUTS2 activator of transcription and developmental regulator AUTS2 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 3:13,565,439...14,794,365
Ensembl chr 3:13,565,281...14,794,365
JBrowse link
G S Auts2 activator of transcription and developmental regulator AUTS2 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chrNW_004936543:5,146,961...6,187,634 JBrowse link
G D AUTS2 activator of transcription and developmental regulator AUTS2 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 6:2,747,288...3,875,774
Ensembl chr 6:2,748,598...3,875,611
JBrowse link
G B AUTS2 activator of transcription and developmental regulator AUTS2 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 7:64,822,964...66,015,831
Ensembl chr 7:77,495,909...78,686,763
JBrowse link
G C Auts2 activator of transcription and developmental regulator AUTS2 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chrNW_004955456:10,294,525...11,417,761
Ensembl chrNW_004955456:10,296,377...10,322,455
JBrowse link
G R Auts2 activator of transcription and developmental regulator AUTS2 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr12:29,739,138...30,830,386
Ensembl chr12:24,104,192...25,194,416
JBrowse link
G M Auts2 autism susceptibility candidate 2 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 5:131,466,171...132,572,059
Ensembl chr 5:131,466,171...132,572,183
JBrowse link
G H AUTS2 activator of transcription and developmental regulator AUTS2 IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 7:69,598,475...70,793,506
Ensembl chr 7:69,598,296...70,793,506
JBrowse link
G N Bcl11a BCL11 transcription factor A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chrNW_004624833:1,367,878...1,468,257
Ensembl chrNW_004624833:1,367,781...1,468,400
JBrowse link
G G BCL11A BCL11 transcription factor A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr14:46,453,102...46,553,802 JBrowse link
G P BCL11A BCL11 transcription factor A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 3:81,195,217...81,296,165
Ensembl chr 3:81,196,294...81,296,382
JBrowse link
G S Bcl11a BCL11 transcription factor A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chrNW_004936491:6,021,340...6,118,103
Ensembl chrNW_004936491:6,021,343...6,118,568
JBrowse link
G D BCL11A BCL11 transcription factor A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr10:60,589,298...60,691,997
Ensembl chr10:60,589,708...60,689,073
JBrowse link
G B BCL11A BCL11 transcription factor A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr2A:60,552,908...60,655,437
Ensembl chr2A:61,695,613...61,795,800
JBrowse link
G C Bcl11a BCL11 transcription factor A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chrNW_004955424:23,233,523...23,330,679
Ensembl chrNW_004955424:23,233,523...23,330,679
JBrowse link
G R Bcl11a BCL11 transcription factor A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr14:102,230,147...102,325,289
Ensembl chr14:98,030,461...98,124,180
JBrowse link
G M Bcl11a BCL11 transcription factor A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr11:24,026,498...24,123,558
Ensembl chr11:24,028,056...24,124,123
JBrowse link
G H BCL11A BCL11 transcription factor A IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 2:60,450,520...60,553,924
Ensembl chr 2:60,450,520...60,554,467
JBrowse link
G N Bcor BCL6 corepressor ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chrNW_004624762:15,338,331...15,465,683
Ensembl chrNW_004624762:15,420,596...15,465,873
JBrowse link
G G BCOR BCL6 corepressor ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr  X:37,191,242...37,319,966
Ensembl chr  X:37,192,874...37,319,782
JBrowse link
G P BCOR BCL6 corepressor ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr  X:35,768,013...35,891,013
Ensembl chr  X:35,768,017...35,814,833
JBrowse link
G S Bcor BCL6 corepressor ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chrNW_004936502:6,764,043...6,812,194
Ensembl chrNW_004936502:6,764,907...6,792,916
JBrowse link
G D BCOR BCL6 corepressor ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr  X:34,621,314...34,735,502
Ensembl chr  X:34,621,886...34,645,766
JBrowse link
G B BCOR BCL6 corepressor ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr  X:32,497,931...32,624,307
Ensembl chr  X:40,202,235...40,249,986
JBrowse link
G C Bcor BCL6 corepressor ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chrNW_004955566:1,412,540...1,510,339
Ensembl chrNW_004955566:1,412,540...1,457,329
JBrowse link
G R Bcor BCL6 co-repressor ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr  X:13,282,431...13,402,254
Ensembl chr  X:10,687,732...10,729,613
JBrowse link
G M Bcor BCL6 interacting corepressor ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr  X:11,902,976...12,026,769
Ensembl chr  X:11,902,979...12,026,594
JBrowse link
G H BCOR BCL6 corepressor IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329
JBrowse link
G N Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:19165920 PMID:20029458 PMID:21735175 PMID:21954287 PMID:22452838 More... NCBI chrNW_004624762:13,723,347...14,106,844
Ensembl chrNW_004624762:13,722,691...14,106,844
JBrowse link
G G CASK calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:19165920 PMID:20029458 PMID:21735175 PMID:21954287 PMID:22452838 More... NCBI chr  X:38,704,623...39,121,309 JBrowse link
G P CASK calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:19165920 PMID:20029458 PMID:21735175 PMID:21954287 PMID:22452838 More... NCBI chr  X:37,166,973...37,535,723
Ensembl chr  X:37,167,577...37,536,160
JBrowse link
G S Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:19165920 PMID:20029458 PMID:21735175 PMID:21954287 PMID:22452838 More... NCBI chrNW_004936502:7,933,312...8,281,492
Ensembl chrNW_004936502:7,937,146...8,281,492
JBrowse link
G D CASK calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:19165920 PMID:20029458 PMID:21735175 PMID:21954287 PMID:22452838 More... NCBI chr  X:35,939,117...36,296,438
Ensembl chr  X:35,940,647...36,297,014
JBrowse link
G B CASK calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:19165920 PMID:20029458 PMID:21735175 PMID:21954287 PMID:22452838 More... NCBI chr  X:33,967,329...34,374,385
Ensembl chr  X:41,659,295...42,066,570
JBrowse link
G C Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:19165920 PMID:20029458 PMID:21735175 PMID:21954287 PMID:22452838 More... NCBI chrNW_004955565:879,560...1,242,727
Ensembl chrNW_004955565:879,830...1,237,692
JBrowse link
G R Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:19165920 PMID:20029458 PMID:21735175 PMID:21954287 PMID:22452838 More... NCBI chr  X:11,572,328...11,915,831
Ensembl chr  X:8,899,833...9,238,694
JBrowse link
G M Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:19165920 PMID:20029458 PMID:21735175 PMID:21954287 PMID:22452838 More... NCBI chr  X:13,383,319...13,713,020
Ensembl chr  X:13,383,319...13,717,606
JBrowse link
G H CASK calcium/calmodulin dependent serine protein kinase IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:19165920 PMID:20029458 PMID:21735175 PMID:21954287 PMID:22452838 More... NCBI chr  X:41,514,934...41,923,554
Ensembl chr  X:41,514,934...41,923,554
JBrowse link
G H CCDST cervical cancer associated DHX9 suppressive transcript IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr 1:152,189,303...152,366,692
Ensembl chr 1:152,165,553...152,445,456
JBrowse link
G N Ddx3x DEAD-box helicase 3 X-linked ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:26235985 PMID:28135719 PMID:28492532 PMID:31474318 NCBI chrNW_004624762:14,290,267...14,305,437
Ensembl chrNW_004624762:14,290,267...14,305,633
JBrowse link
G G DDX3X DEAD-box helicase 3 X-linked ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:26235985 PMID:28135719 PMID:28492532 PMID:31474318 NCBI chr  X:38,513,251...38,539,982
Ensembl chr  Y:689,380...706,092
JBrowse link
G P DDX3X DEAD-box helicase 3 X-linked ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:26235985 PMID:28135719 PMID:28492532 PMID:31474318 NCBI chr  X:36,988,031...37,005,496
Ensembl chr  X:36,988,031...37,018,202
JBrowse link
G S Ddx3x DEAD-box helicase 3 X-linked ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:26235985 PMID:28135719 PMID:28492532 PMID:31474318 NCBI chrNW_004936502:7,770,896...7,820,555
Ensembl chrNW_004936502:7,804,824...7,820,569
JBrowse link
G D DDX3X DEAD-box helicase 3 X-linked ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:26235985 PMID:28135719 PMID:28492532 PMID:31474318 NCBI chr  X:35,759,367...35,789,759
Ensembl chr  X:35,759,416...35,789,774
JBrowse link
G B DDX3X DEAD-box helicase 3 X-linked ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:26235985 PMID:28135719 PMID:28492532 PMID:31474318 NCBI chr  X:33,780,381...33,796,829
Ensembl chr  X:41,475,116...41,505,837
JBrowse link
G C Ddx3x DEAD-box helicase 3 X-linked ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:26235985 PMID:28135719 PMID:28492532 PMID:31474318 NCBI chrNW_004955565:1,387,043...1,403,624
Ensembl chrNW_004955565:1,386,973...1,404,220
JBrowse link
G R Ddx3x DEAD-box helicase 3, X-linked ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:26235985 PMID:28135719 PMID:28492532 PMID:31474318 NCBI chr  X:12,152,346...12,165,983
Ensembl chr  X:9,479,532...9,493,168
JBrowse link
G M Ddx3x DEAD box helicase 3, X-linked ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:26235985 PMID:28135719 PMID:28492532 PMID:31474318 NCBI chr  X:13,147,261...13,160,222
Ensembl chr  X:13,147,209...13,160,291
JBrowse link
G H DDX3X DEAD-box helicase 3 X-linked IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:26235985 PMID:28135719 PMID:28492532 PMID:31474318 NCBI chr  X:41,333,308...41,364,472
Ensembl chr  X:41,333,348...41,364,472
JBrowse link
G N Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:21931702 PMID:25741868 PMID:28492532 PMID:28930861 PMID:31474318 NCBI chrNW_004624963:468,673...479,317
Ensembl chrNW_004624963:469,408...479,207
JBrowse link
G G DKC1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:21931702 PMID:25741868 PMID:28492532 PMID:28930861 PMID:31474318 NCBI chr  X:129,015,883...129,029,741
Ensembl chr  X:129,016,046...129,030,001
JBrowse link
G P DKC1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:21931702 PMID:25741868 PMID:28492532 PMID:28930861 PMID:31474318 NCBI chr  X:125,218,928...125,228,881
Ensembl chr  X:125,218,923...125,229,525
JBrowse link
G S Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:21931702 PMID:25741868 PMID:28492532 PMID:28930861 PMID:31474318 NCBI chrNW_004936927:134,770...144,057 JBrowse link
G D DKC1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:21931702 PMID:25741868 PMID:28492532 PMID:28930861 PMID:31474318 NCBI chr  X:122,838,787...122,850,870
Ensembl chr  X:122,838,645...122,850,884
JBrowse link
G B DKC1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:21931702 PMID:25741868 PMID:28492532 PMID:28930861 PMID:31474318 NCBI chr  X:144,243,493...144,257,419
Ensembl chr  X:154,084,412...154,098,475
JBrowse link
G C Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:21931702 PMID:25741868 PMID:28492532 PMID:28930861 PMID:31474318 NCBI chrNW_004955594:846,997...857,255
Ensembl chrNW_004955594:847,815...856,510
JBrowse link
G R Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:21931702 PMID:25741868 PMID:28492532 PMID:28930861 PMID:31474318 NCBI chr  X:157,751,651...157,757,796 JBrowse link
G M Dkc1 dyskeratosis congenita 1, dyskerin ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:21931702 PMID:25741868 PMID:28492532 PMID:28930861 PMID:31474318 NCBI chr  X:74,139,460...74,153,382
Ensembl chr  X:74,139,460...74,153,383
JBrowse link
G H DKC1 dyskerin pseudouridine synthase 1 IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:21931702 PMID:25741868 PMID:28492532 PMID:28930861 PMID:31474318 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689
JBrowse link
G N Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624734:2,253,931...2,311,341
Ensembl chrNW_004624734:2,254,085...2,311,177
JBrowse link
G G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr24:79,915,719...80,008,666
Ensembl chr24:79,915,889...80,000,099
JBrowse link
G P DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532
G S Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936835:225,879...290,160
Ensembl chrNW_004936835:225,324...289,954
JBrowse link
G D DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:69,997,021...70,064,886
Ensembl chr 8:69,997,145...70,064,825
JBrowse link
G B DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr14:82,584,876...82,670,750
Ensembl chr14:102,406,993...102,489,475
JBrowse link
G C Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955538:1,388,595...1,458,166
Ensembl chrNW_004955538:1,390,137...1,458,025
JBrowse link
G R Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:135,436,375...135,502,117
Ensembl chr 6:129,609,397...129,680,883
JBrowse link
G M Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr12:110,567,829...110,633,378
Ensembl chr12:110,567,886...110,633,379
JBrowse link
G H DYNC1H1 dynein cytoplasmic 1 heavy chain 1 IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443
JBrowse link
G N Fgfr1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chrNW_004624780:5,161,245...5,212,641
Ensembl chrNW_004624780:5,161,073...5,213,870
JBrowse link
G G FGFR1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 8:36,426,116...36,485,683
Ensembl chr 8:36,427,110...36,485,508
JBrowse link
G P FGFR1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724
JBrowse link
G S Fgfr1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chrNW_004936710:1,760,365...1,815,269
Ensembl chrNW_004936710:1,760,089...1,815,508
JBrowse link
G D FGFR1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261
JBrowse link
G B FGFR1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904
JBrowse link
G C Fgfr1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chrNW_004955463:14,013,247...14,064,354
Ensembl chrNW_004955463:14,013,247...14,064,111
JBrowse link
G R Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G M Fgfr1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734
JBrowse link
G H FGFR1 fibroblast growth factor receptor 1 IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G D FLG filaggrin ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr17:61,217,915...61,233,068 JBrowse link
G B FLG filaggrin ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr 1:127,634,416...127,649,659 JBrowse link
G R Flg filaggrin ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr 2:178,884,793...178,912,986 JBrowse link
G M Flg filaggrin ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr 3:93,180,853...93,200,996
Ensembl chr 3:93,180,830...93,200,993
JBrowse link
G H FLG filaggrin IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr 1:152,302,165...152,325,239
Ensembl chr 1:152,302,165...152,325,239
JBrowse link
G N Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:31474318 NCBI chrNW_004624773:5,543,529...6,076,522
Ensembl chrNW_004624773:5,543,536...5,883,131
JBrowse link
G G FOXP1 forkhead box P1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:31474318 NCBI chr22:31,907,941...32,538,294
Ensembl chr22:31,912,460...32,154,502
JBrowse link
G P FOXP1 forkhead box P1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:31474318 NCBI chr13:52,346,844...52,974,358
Ensembl chr13:52,348,234...52,876,892
JBrowse link
G S Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:31474318 NCBI chrNW_004936603:2,631,781...3,146,104
Ensembl chrNW_004936603:2,632,274...2,830,324
JBrowse link
G D FOXP1 forkhead box P1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:31474318 NCBI chr20:20,438,631...21,020,516
Ensembl chr20:20,788,433...21,016,397
JBrowse link
G B FOXP1 forkhead box P1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:31474318 NCBI chr 3:70,893,933...71,523,892
Ensembl chr 3:72,258,456...72,498,173
JBrowse link
G C Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:31474318 NCBI chrNW_004955421:16,595,445...17,075,923
Ensembl chrNW_004955421:16,595,471...17,075,923
JBrowse link
G R Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:31474318 NCBI chr 4:133,117,346...133,808,647
Ensembl chr 4:131,564,756...132,112,258
JBrowse link
G M Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:31474318 NCBI chr 6:98,902,303...99,510,587
Ensembl chr 6:98,902,299...99,499,682
JBrowse link
G H FOXP1 forkhead box P1 IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:31474318 NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978
JBrowse link
G N Fzd3 frizzled class receptor 3 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chrNW_004624758:23,147,512...23,240,711
Ensembl chrNW_004624758:23,147,452...23,230,879
JBrowse link
G G FZD3 frizzled class receptor 3 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 8:26,598,544...26,668,983
Ensembl chr 8:26,598,610...26,667,543
JBrowse link
G P FZD3 frizzled class receptor 3 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr14:12,281,127...12,394,768
Ensembl chr14:12,281,155...12,390,530
JBrowse link
G S Fzd3 frizzled class receptor 3 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chrNW_004936675:1,275,500...1,334,878
Ensembl chrNW_004936675:1,275,470...1,333,540
JBrowse link
G D FZD3 frizzled class receptor 3 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr25:28,969,126...29,075,763
Ensembl chr25:28,952,477...29,075,851
JBrowse link
G B FZD3 frizzled class receptor 3 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 8:27,773,699...27,853,980
Ensembl chr 8:24,973,644...25,042,115
JBrowse link
G C Fzd3 frizzled class receptor 3 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chrNW_004955403:50,899,658...50,959,077
Ensembl chrNW_004955403:50,899,523...50,959,071
JBrowse link
G R Fzd3 frizzled class receptor 3 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr15:43,596,962...43,664,047
Ensembl chr15:39,421,355...39,488,369
JBrowse link
G M Fzd3 frizzled class receptor 3 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr14:65,429,890...65,499,912
Ensembl chr14:65,429,898...65,499,912
JBrowse link
G H FZD3 frizzled class receptor 3 IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 8:28,494,212...28,574,258
Ensembl chr 8:28,494,205...28,574,267
JBrowse link
G N Kctd3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25558065 PMID:25741868 NCBI chrNW_004624835:11,110...46,480 JBrowse link
G G KCTD3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25558065 PMID:25741868 NCBI chr25:13,951,569...14,008,370
Ensembl chr25:13,950,775...14,008,338
JBrowse link
G P KCTD3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25558065 PMID:25741868 NCBI chr10:5,754,180...5,815,126
Ensembl chr10:5,754,156...5,815,086
JBrowse link
G S Kctd3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25558065 PMID:25741868 NCBI chrNW_004936628:2,862,536...2,912,784
Ensembl chrNW_004936628:2,862,617...2,912,790
JBrowse link
G D KCTD3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25558065 PMID:25741868 NCBI chr38:11,016,344...11,059,843
Ensembl chr38:11,008,857...11,084,871
JBrowse link
G B KCTD3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25558065 PMID:25741868 NCBI chr 1:191,138,755...191,193,352
Ensembl chr 1:195,992,842...196,051,606
JBrowse link
G C Kctd3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25558065 PMID:25741868 NCBI chrNW_004955406:2,500,619...2,539,123
Ensembl chrNW_004955406:2,501,083...2,540,125
JBrowse link
G R Kctd3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25558065 PMID:25741868 NCBI chr13:100,510,193...100,548,765
Ensembl chr13:100,510,195...100,548,718
JBrowse link
G M Kctd3 potassium channel tetramerisation domain containing 3 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25558065 PMID:25741868 NCBI chr 1:188,703,292...188,740,095
Ensembl chr 1:188,703,292...188,740,038
JBrowse link
G H KCTD3 potassium channel tetramerization domain containing 3 IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25558065 PMID:25741868 NCBI chr 1:215,567,304...215,621,807
Ensembl chr 1:215,567,304...215,621,807
JBrowse link
G N Kiaa0586 KIAA0586 ortholog ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:20301500 PMID:24033266 PMID:25741868 PMID:25807282 PMID:26026149 More... NCBI chrNW_004624884:3,477,240...3,624,420
Ensembl chrNW_004624884:3,478,065...3,625,711
JBrowse link
G G KIAA0586 KIAA0586 ortholog ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:20301500 PMID:24033266 PMID:25741868 PMID:25807282 PMID:26026149 More... NCBI chr24:35,606,816...35,733,490
Ensembl chr24:35,606,714...35,734,346
JBrowse link
G P KIAA0586 KIAA0586 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:20301500 PMID:24033266 PMID:25741868 PMID:25807282 PMID:26026149 More... NCBI chr 1:187,504,694...187,642,492
Ensembl chr 1:187,504,638...187,642,492
JBrowse link
G S Kiaa0586 KIAA0586 ortholog ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:20301500 PMID:24033266 PMID:25741868 PMID:25807282 PMID:26026149 More... NCBI chrNW_004936495:2,799,738...2,933,157
Ensembl chrNW_004936495:2,800,384...2,931,856
JBrowse link
G D KIAA0586 KIAA0586 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:20301500 PMID:24033266 PMID:25741868 PMID:25807282 PMID:26026149 More... NCBI chr 8:33,771,357...33,880,910
Ensembl chr 8:33,771,504...33,880,877
JBrowse link
G B KIAA0586 KIAA0586 ortholog ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia 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 C Kiaa0586 KIAA0586 ortholog ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia 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 R Kiaa0586 KIAA0586 homolog ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:20301500 PMID:24033266 PMID:25741868 PMID:25807282 PMID:26026149 More... NCBI chr 6:89,622,711...89,725,951
Ensembl chr 6:89,623,699...89,725,962
JBrowse link
G H KIAA0586 KIAA0586 IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:20301500 PMID:24033266 PMID:25741868 PMID:25807282 PMID:26026149 More... NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297
JBrowse link
G M Kif4 kinesin family member 4 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr  X:99,669,693...99,770,878
Ensembl chr  X:99,669,343...99,770,820
JBrowse link
G N Kif4a kinesin family member 4A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chrNW_004624903:261,084...386,670 JBrowse link
G G KIF4A kinesin family member 4A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr  X:60,135,371...60,266,301 JBrowse link
G P KIF4A kinesin family member 4A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr  X:56,319,453...56,447,560
Ensembl chr  X:56,319,529...56,447,553
JBrowse link
G S Kif4a kinesin family member 4A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chrNW_004936762:1,062,570...1,194,192
Ensembl chrNW_004936762:1,061,526...1,187,863
JBrowse link
G D KIF4A kinesin family member 4A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr  X:54,739,082...54,863,818
Ensembl chr  X:54,739,419...54,863,833
JBrowse link
G B KIF4A kinesin family member 4A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr  X:59,558,491...59,688,711
Ensembl chr  X:69,618,244...69,746,235
JBrowse link
G C Kif4a kinesin family member 4A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chrNW_004955475:9,845,633...9,969,965
Ensembl chrNW_004955475:9,845,633...9,970,564
JBrowse link
G R Kif4a kinesin family member 4A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr  X:69,761,803...69,864,335
Ensembl chr  X:65,721,779...65,824,139
JBrowse link
G H KIF4A kinesin family member 4A IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr  X:70,290,104...70,420,886
Ensembl chr  X:70,290,104...70,420,886
JBrowse link
G N L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:7562969 PMID:8929944 PMID:10797421 PMID:16650080 PMID:25741868 More... NCBI chrNW_004624946:512,413...533,669
Ensembl chrNW_004624946:513,297...525,009
JBrowse link
G G L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:7562969 PMID:8929944 PMID:10797421 PMID:16650080 PMID:25741868 More... NCBI chr  X:128,285,128...128,309,173
Ensembl chr  X:128,285,130...128,299,570
JBrowse link
G P L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:7562969 PMID:8929944 PMID:10797421 PMID:16650080 PMID:25741868 More... NCBI chr  X:124,595,649...124,618,292
Ensembl chr  X:124,595,651...124,618,269
JBrowse link
G S L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:7562969 PMID:8929944 PMID:10797421 PMID:16650080 PMID:25741868 More... NCBI chrNW_004936809:736,385...768,822
Ensembl chrNW_004936809:736,319...761,973
JBrowse link
G D L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:7562969 PMID:8929944 PMID:10797421 PMID:16650080 PMID:25741868 More... NCBI chr  X:121,708,695...121,722,819
Ensembl chr  X:121,708,894...121,733,365
JBrowse link
G B L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:7562969 PMID:8929944 PMID:10797421 PMID:16650080 PMID:25741868 More... NCBI chr  X:143,412,303...143,437,090
Ensembl chr  X:153,298,690...153,324,228
JBrowse link
G C L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:7562969 PMID:8929944 PMID:10797421 PMID:16650080 PMID:25741868 More... NCBI chrNW_004955580:548,442...561,580
Ensembl chrNW_004955580:549,368...561,486
JBrowse link
G R L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:7562969 PMID:8929944 PMID:10797421 PMID:16650080 PMID:25741868 More... NCBI chr  X:156,748,597...156,775,116
Ensembl chr  X:151,597,277...151,623,857
JBrowse link
G M L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:7562969 PMID:8929944 PMID:10797421 PMID:16650080 PMID:25741868 More... NCBI chr  X:72,897,384...72,924,843
Ensembl chr  X:72,897,384...72,939,711
JBrowse link
G H L1CAM L1 cell adhesion molecule IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:7562969 PMID:8929944 PMID:10797421 PMID:16650080 PMID:25741868 More... NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,514...153,886,173
JBrowse link
G P LOC100525876 ATPase family AAA domain-containing protein 3 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31727539 NCBI chr 6:63,706,155...63,721,574
Ensembl chr 6:63,701,460...63,721,573
JBrowse link
G N LOC101715424 tubulin alpha-1B chain-like ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chrNW_004624816:3,001,252...3,006,166 JBrowse link
G S LOC101972766 tubulin alpha-1A chain ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chrNW_004936512:6,959,656...6,964,299
Ensembl chrNW_004936512:6,958,985...6,964,299
JBrowse link
G G LOC103238261 tubulin alpha-1A chain ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr11:45,419,046...45,423,574
Ensembl chr11:45,418,748...45,423,685
JBrowse link
G H LOC130000962 ATAC-STARR-seq lymphoblastoid silent region 19465 IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31785787 NCBI chr 8:106,657,891...106,658,140 JBrowse link
G H LOC130001468 ATAC-STARR-seq lymphoblastoid silent region 19733 IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:2,622,192...2,622,461 JBrowse link
G H LOC130001471 ATAC-STARR-seq lymphoblastoid silent region 19736 IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:2,645,714...2,645,763 JBrowse link
G D LOC610636 tubulin alpha-1B chain ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr37:25,811,491...25,818,838 JBrowse link
G N Macf1 microtubule actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chrNW_004624764:21,663,516...22,015,866
Ensembl chrNW_004624764:21,782,162...22,014,676
JBrowse link
G G MACF1 microtubule actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr20:93,413,111...93,814,388 JBrowse link
G P MACF1 microtubule actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 6:94,960,385...95,318,126
Ensembl chr 6:94,960,364...95,318,281
JBrowse link
G S Macf1 microtubule actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chrNW_004936474:21,053,755...21,401,336
Ensembl chrNW_004936474:21,178,791...21,400,147
JBrowse link
G D MACF1 microtubule actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr15:3,361,887...3,703,891
Ensembl chr15:3,362,867...3,573,325
JBrowse link
G B MACF1 microtubule actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 1:38,369,021...38,771,911
Ensembl chr 1:39,820,394...40,096,558
JBrowse link
G C Macf1 microtubule actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chrNW_004955452:16,684,784...17,025,940
Ensembl chrNW_004955452:16,798,911...17,024,732
JBrowse link
G R Macf1 microtubule-actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 5:140,908,829...141,234,127
Ensembl chr 5:135,623,742...135,945,905
JBrowse link
G M Macf1 microtubule-actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 4:123,243,386...123,581,594
Ensembl chr 4:123,243,426...123,581,331
JBrowse link
G H MACF1 microtubule actin crosslinking factor 1 IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 1:39,084,167...39,487,138
Ensembl chr 1:39,081,316...39,487,177
JBrowse link
G N Ophn1 oligophrenin 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31474318 NCBI chrNW_004624891:1,907,233...2,429,714
Ensembl chrNW_004624891:1,908,044...2,425,144
JBrowse link
G G OPHN1 oligophrenin 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31474318 NCBI chr  X:57,906,868...58,291,358
Ensembl chr  X:57,911,555...58,290,900
JBrowse link
G P OPHN1 oligophrenin 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31474318 NCBI chr  X:54,056,504...54,617,045
Ensembl chr  X:54,055,092...54,616,959
JBrowse link
G S Ophn1 oligophrenin 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31474318 NCBI chrNW_004936635:6,966...243,209
Ensembl chrNW_004936635:6,923...244,408
JBrowse link
G D OPHN1 oligophrenin 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31474318 NCBI chr  X:52,418,390...52,983,155
Ensembl chr  X:52,455,373...52,982,244
JBrowse link
G B OPHN1 oligophrenin 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31474318 NCBI chr  X:57,288,297...57,674,685
Ensembl chr  X:67,359,364...67,739,114
JBrowse link
G C Ophn1 oligophrenin 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31474318 NCBI chrNW_004955475:7,576,629...8,019,132
Ensembl chrNW_004955475:7,581,675...8,018,139
JBrowse link
G R Ophn1 oligophrenin 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31474318 NCBI chr  X:67,639,956...68,018,217
Ensembl chr  X:63,603,042...63,976,633
JBrowse link
G M Ophn1 oligophrenin 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31474318 NCBI chr  X:97,597,886...97,934,691
Ensembl chr  X:97,597,883...97,934,631
JBrowse link
G H OPHN1 oligophrenin 1 IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31474318 NCBI chr  X:68,042,344...68,433,841
Ensembl chr  X:67,949,349...68,433,913
JBrowse link
G N Oxr1 oxidation resistance 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31785787 NCBI chrNW_004624763:22,008,477...22,344,330 JBrowse link
G G OXR1 oxidation resistance 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31785787 NCBI chr 8:101,059,060...101,534,283
Ensembl chr 8:101,361,828...101,535,932
JBrowse link
G P OXR1 oxidation resistance 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31785787 NCBI chr 4:30,735,844...31,254,952
Ensembl chr 4:30,734,514...31,400,997
JBrowse link
G S Oxr1 oxidation resistance 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31785787 NCBI chrNW_004936470:37,734,149...38,137,252
Ensembl chrNW_004936470:37,734,147...38,137,679
JBrowse link
G D OXR1 oxidation resistance 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31785787 NCBI chr13:7,220,959...7,580,881
Ensembl chr13:7,220,958...7,579,473
JBrowse link
G B OXR1 oxidation resistance 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31785787 NCBI chr 8:102,904,139...103,392,971
Ensembl chr 8:105,143,466...105,685,965
JBrowse link
G C Oxr1 oxidation resistance 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31785787 NCBI chrNW_004955417:29,605,962...29,875,041
Ensembl chrNW_004955417:29,605,916...29,875,041
JBrowse link
G R Oxr1 oxidation resistance 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31785787 NCBI chr 7:74,413,609...74,850,487
Ensembl chr 7:72,528,786...72,965,666
JBrowse link
G M Oxr1 oxidation resistance 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31785787 NCBI chr15:41,310,745...41,724,447
Ensembl chr15:41,310,878...41,724,444
JBrowse link
G H OXR1 oxidation resistance 1 IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31785787 NCBI chr 8:106,270,178...106,752,694
Ensembl chr 8:106,270,144...106,752,694
JBrowse link
G N Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:16783378 PMID:32581362 NCBI chrNW_004624752:9,792,778...9,841,817
Ensembl chrNW_004624752:9,792,807...9,843,457
JBrowse link
G G PLA2G6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:16783378 PMID:32581362 NCBI chr19:20,818,575...20,884,243 JBrowse link
G P PLA2G6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:16783378 PMID:32581362 NCBI chr 5:9,713,809...9,777,921
Ensembl chr 5:9,713,873...9,777,918
JBrowse link
G S Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:16783378 PMID:32581362 NCBI chrNW_004936492:3,011,752...3,060,962
Ensembl chrNW_004936492:3,011,772...3,060,986
JBrowse link
G D PLA2G6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:16783378 PMID:32581362 NCBI chr10:26,499,033...26,559,533
Ensembl chr10:26,509,695...26,634,087
JBrowse link
G B PLA2G6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:16783378 PMID:32581362 NCBI chr22:18,998,060...19,094,507
Ensembl chr22:36,849,794...36,919,509
Ensembl chr22:36,849,794...36,919,509
JBrowse link
G C Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:16783378 PMID:32581362 NCBI chrNW_004955413:24,431,592...24,482,229
Ensembl chrNW_004955413:24,429,589...24,482,537
JBrowse link
G R Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:16783378 PMID:32581362 NCBI chr 7:112,731,803...112,771,978
Ensembl chr 7:110,851,378...110,891,114
JBrowse link
G M Pla2g6 phospholipase A2, group VI ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:16783378 PMID:32581362 NCBI chr15:79,170,428...79,212,915
Ensembl chr15:79,170,428...79,212,590
JBrowse link
G H PLA2G6 phospholipase A2 group VI IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:16783378 PMID:32581362 NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778
JBrowse link
G N Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 More... NCBI chrNW_004624824:6,214,193...6,244,590 JBrowse link
G G PMM2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 More... NCBI chr 5:8,389,483...8,425,605
Ensembl chr 5:8,389,754...8,423,346
JBrowse link
G P PMM2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 More... NCBI chr 3:33,857,059...33,892,472
Ensembl chr 3:33,857,068...33,892,701
JBrowse link
G S Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 More... NCBI chrNW_004936530:7,630,668...7,648,658
Ensembl chrNW_004936530:7,630,637...7,648,676
JBrowse link
G D PMM2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 More... NCBI chr 6:33,346,969...33,371,095
Ensembl chr 6:33,347,270...33,371,025
JBrowse link
G B PMM2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 More... NCBI chr16:7,731,266...7,782,871
Ensembl chr16:8,971,692...9,020,406
JBrowse link
G C Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 More... NCBI chrNW_004955442:9,390,789...9,411,722
Ensembl chrNW_004955442:9,389,443...9,411,719
JBrowse link
G R Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 More... NCBI chr10:7,468,371...7,489,574
Ensembl chr10:6,961,709...6,983,098
JBrowse link
G M Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 More... NCBI chr16:8,455,467...8,475,472
Ensembl chr16:8,455,538...8,480,331
JBrowse link
G H PMM2 phosphomannomutase 2 IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 More... NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534
JBrowse link
G N Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:2706168 PMID:25533962 PMID:25741868 PMID:27061686 PMID:28492532 More... NCBI chrNW_004624799:6,728,967...6,804,846
Ensembl chrNW_004624799:6,728,610...6,803,716
JBrowse link
G G RARS2 arginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:2706168 PMID:25533962 PMID:25741868 PMID:27061686 PMID:28492532 More... NCBI chr13:11,995,422...12,068,150
Ensembl chr13:11,995,453...12,068,138
JBrowse link
G P RARS2 arginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:2706168 PMID:25533962 PMID:25741868 PMID:27061686 PMID:28492532 More... NCBI chr 1:55,906,508...55,982,094
Ensembl chr 1:55,893,480...55,982,068
JBrowse link
G S Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:2706168 PMID:25533962 PMID:25741868 PMID:27061686 PMID:28492532 More... NCBI chrNW_004936510:4,281,847...4,343,271
Ensembl chrNW_004936510:4,281,626...4,343,276
JBrowse link
G D RARS2 arginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:2706168 PMID:25533962 PMID:25741868 PMID:27061686 PMID:28492532 More... NCBI chr12:46,993,787...47,047,295
Ensembl chr12:46,992,959...47,047,240
JBrowse link
G B RARS2 arginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:2706168 PMID:25533962 PMID:25741868 PMID:27061686 PMID:28492532 More... NCBI chr 6:85,391,061...85,466,888
Ensembl chr 6:88,665,543...88,741,371
JBrowse link
G C Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:2706168 PMID:25533962 PMID:25741868 PMID:27061686 PMID:28492532 More... NCBI chrNW_004955411:14,470,479...14,527,895
Ensembl chrNW_004955411:14,470,479...14,527,895
JBrowse link
G R Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:2706168 PMID:25533962 PMID:25741868 PMID:27061686 PMID:28492532 More... NCBI chr 5:49,181,517...49,238,664
Ensembl chr 5:49,181,565...49,233,276
JBrowse link
G M Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:2706168 PMID:25533962 PMID:25741868 PMID:27061686 PMID:28492532 More... NCBI chr 4:34,614,941...34,660,167
Ensembl chr 4:34,614,957...34,660,167
JBrowse link
G H RARS2 arginyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:2706168 PMID:25533962 PMID:25741868 PMID:27061686 PMID:28492532 More... NCBI chr 6:87,513,938...87,589,987
Ensembl chr 6:87,513,459...87,590,028
JBrowse link
G N Sema6b semaphorin 6B ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chrNW_004624828:5,170,745...5,193,568
Ensembl chrNW_004624828:5,182,812...5,192,486
JBrowse link
G G SEMA6B semaphorin 6B ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 6:4,276,548...4,304,738 JBrowse link
G P SEMA6B semaphorin 6B ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 2:74,262,303...74,296,386
Ensembl chr 2:74,258,439...74,296,385
JBrowse link
G S Sema6b semaphorin 6B ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chrNW_004936588:2,642,730...2,654,520
Ensembl chrNW_004936588:2,642,859...2,653,742
JBrowse link
G D SEMA6B semaphorin 6B ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr20:55,151,913...55,173,434
Ensembl chr20:55,161,818...55,173,135
JBrowse link
G B SEMA6B semaphorin 6B ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr19:3,562,673...3,600,981 JBrowse link
G C Sema6b semaphorin 6B ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chrNW_004955495:4,387,147...4,399,430
Ensembl chrNW_004955495:4,388,516...4,399,313
JBrowse link
G R Sema6b semaphorin 6B ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 9:1,038,103...1,055,063
Ensembl chr 9:950,939...961,521
JBrowse link
G M Sema6b sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr17:56,430,085...56,447,343
Ensembl chr17:56,430,085...56,447,343
JBrowse link
G H SEMA6B semaphorin 6B IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr19:4,542,593...4,559,684
Ensembl chr19:4,542,588...4,581,776
JBrowse link
G N Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chrNW_004624755:7,211,598...7,250,748
Ensembl chrNW_004624755:7,211,584...7,250,748
JBrowse link
G G SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr27:25,202,150...25,242,782
Ensembl chr27:25,202,506...25,243,330
JBrowse link
G P SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr 8:19,097,788...19,162,246
Ensembl chr 8:19,097,456...19,136,222
JBrowse link
G S Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chrNW_004936477:4,335,945...4,368,117
Ensembl chrNW_004936477:4,336,059...4,368,901
JBrowse link
G D SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr 3:85,071,011...85,106,272
Ensembl chr 3:85,069,742...85,102,347
JBrowse link
G B SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr 4:19,517,552...19,558,454
Ensembl chr 4:24,802,260...24,842,816
JBrowse link
G C Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chrNW_004955443:19,759,772...19,859,188
Ensembl chrNW_004955443:19,822,811...19,863,495
JBrowse link
G R Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr14:58,311,484...58,341,745
Ensembl chr14:58,311,499...58,341,740
JBrowse link
G M Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr 5:52,797,431...52,827,104
Ensembl chr 5:52,797,429...52,827,050
JBrowse link
G H SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr 4:25,120,014...25,160,582
Ensembl chr 4:25,120,014...25,160,550
JBrowse link
G N Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:29276005 PMID:31474318 PMID:32710489 More... NCBI chrNW_004624730:74,187,981...74,277,857
Ensembl chrNW_004624730:74,187,995...74,277,200
JBrowse link
G G SETD2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:29276005 PMID:31474318 PMID:32710489 More... NCBI chr22:8,421,178...8,567,221
Ensembl chr22:8,420,960...8,567,201
JBrowse link
G P SETD2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:29276005 PMID:31474318 PMID:32710489 More... NCBI chr13:29,884,708...29,996,285
Ensembl chr13:29,884,719...29,996,359
JBrowse link
G S Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:29276005 PMID:31474318 PMID:32710489 More... NCBI chrNW_004936596:795,940...898,823
Ensembl chrNW_004936596:796,601...883,373
JBrowse link
G D SETD2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:29276005 PMID:31474318 PMID:32710489 More... NCBI chr20:41,675,539...41,800,697
Ensembl chr20:41,675,599...41,800,612
JBrowse link
G B SETD2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:29276005 PMID:31474318 PMID:32710489 More... NCBI chr 3:46,916,615...47,064,046
Ensembl chr 3:48,018,517...48,163,999
JBrowse link
G C Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:29276005 PMID:31474318 PMID:32710489 More... NCBI chrNW_004955420:25,070,626...25,178,410
Ensembl chrNW_004955420:25,090,798...25,177,760
JBrowse link
G R Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:29276005 PMID:31474318 PMID:32710489 More... NCBI chr 8:119,390,207...119,475,863
Ensembl chr 8:110,511,772...110,597,489
JBrowse link
G M Setd2 SET domain containing 2 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:29276005 PMID:31474318 PMID:32710489 More... NCBI chr 9:110,361,368...110,447,703
Ensembl chr 9:110,358,262...110,447,701
JBrowse link
G H SETD2 SET domain containing 2, histone lysine methyltransferase IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:29276005 PMID:31474318 PMID:32710489 More... NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113
JBrowse link
G N Sptan1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:29050398 PMID:31474318 PMID:32963807 NCBI chrNW_004624760:6,331,554...6,388,953
Ensembl chrNW_004624760:6,331,554...6,386,216
JBrowse link
G G SPTAN1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:29050398 PMID:31474318 PMID:32963807 NCBI chr12:9,503,752...9,585,297
Ensembl chr12:9,503,367...9,585,268
JBrowse link
G P SPTAN1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:29050398 PMID:31474318 PMID:32963807 NCBI chr 1:268,936,120...269,002,261
Ensembl chr 1:268,936,025...269,002,256
JBrowse link
G S Sptan1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:29050398 PMID:31474318 PMID:32963807 NCBI chrNW_004936487:16,071,043...16,142,662
Ensembl chrNW_004936487:16,070,996...16,142,662
JBrowse link
G D SPTAN1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:29050398 PMID:31474318 PMID:32963807 NCBI chr 9:54,953,751...55,015,475
Ensembl chr 9:54,953,747...55,015,376
JBrowse link
G B SPTAN1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:29050398 PMID:31474318 PMID:32963807 NCBI chr 9:99,674,819...99,755,973
Ensembl chr 9:128,341,739...128,422,971
JBrowse link
G C Sptan1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:29050398 PMID:31474318 PMID:32963807 NCBI chrNW_004955570:1,016,510...1,076,499
Ensembl chrNW_004955570:1,016,510...1,076,499
JBrowse link
G R Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:29050398 PMID:31474318 PMID:32963807 NCBI chr 3:33,639,020...33,703,890
Ensembl chr 3:13,241,217...13,306,046
JBrowse link
G M Sptan1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:29050398 PMID:31474318 PMID:32963807 NCBI chr 2:29,855,572...29,921,463
Ensembl chr 2:29,855,572...29,921,463
JBrowse link
G H SPTAN1 spectrin alpha, non-erythrocytic 1 IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:29050398 PMID:31474318 PMID:32963807 NCBI chr 9:128,552,587...128,633,662
Ensembl chr 9:128,552,558...128,633,662
JBrowse link
G N Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:21193638 PMID:23934111 PMID:25326390 PMID:25533962 PMID:25741868 More... NCBI chrNW_004624760:7,843,741...7,914,444
Ensembl chrNW_004624760:7,842,640...7,914,484
JBrowse link
G G STXBP1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:21193638 PMID:23934111 PMID:25326390 PMID:25533962 PMID:25741868 More... NCBI chr12:10,440,061...10,519,798
Ensembl chr12:10,439,801...10,519,777
JBrowse link
G P STXBP1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:21193638 PMID:23934111 PMID:25326390 PMID:25533962 PMID:25741868 More... NCBI chr 1:268,116,124...268,205,805
Ensembl chr 1:268,116,120...268,205,778
JBrowse link
G S Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:21193638 PMID:23934111 PMID:25326390 PMID:25533962 PMID:25741868 More... NCBI chrNW_004936487:15,300,758...15,367,475
Ensembl chrNW_004936487:15,300,952...15,365,713
JBrowse link
G D STXBP1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:21193638 PMID:23934111 PMID:25326390 PMID:25533962 PMID:25741868 More... NCBI chr 9:55,690,939...55,768,008
Ensembl chr 9:55,678,264...55,727,680
JBrowse link
G B STXBP1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:21193638 PMID:23934111 PMID:25326390 PMID:25533962 PMID:25741868 More... NCBI chr 9:98,731,527...98,811,608
Ensembl chr 9:127,434,080...127,486,152
JBrowse link
G C Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:21193638 PMID:23934111 PMID:25326390 PMID:25533962 PMID:25741868 More... NCBI chrNW_004955419:963,829...1,000,759
Ensembl chrNW_004955419:963,829...1,000,759
JBrowse link
G R Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:21193638 PMID:23934111 PMID:25326390 PMID:25533962 PMID:25741868 More... NCBI chr 3:36,474,428...36,536,120
Ensembl chr 3:16,076,391...16,138,369
JBrowse link
G M Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:21193638 PMID:23934111 PMID:25326390 PMID:25533962 PMID:25741868 More... NCBI chr 2:32,677,619...32,737,249
Ensembl chr 2:32,677,614...32,737,257
JBrowse link
G H STXBP1 syntaxin binding protein 1 IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:21193638 PMID:23934111 PMID:25326390 PMID:25533962 PMID:25741868 More... NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027
JBrowse link
G N Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chrNW_004624980:310,630...407,364
Ensembl chrNW_004624980:310,426...406,972
JBrowse link
G G TMLHE trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr  X:129,628,788...129,729,616
Ensembl chr  X:129,626,286...129,729,592
JBrowse link
G P TMLHE trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr  X:125,601,920...125,673,716
Ensembl chr  X:125,598,116...125,673,669
JBrowse link
G S Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chrNW_004936958:64,713...113,627 JBrowse link
G D TMLHE trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr  X:123,322,773...123,438,999
Ensembl chr  X:123,324,729...123,438,947
JBrowse link
G B TMLHE trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr  X:144,956,906...145,081,204 JBrowse link
G C Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chrNW_004955594:272,668...329,997
Ensembl chrNW_004955594:272,646...331,757
JBrowse link
G R Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr20:96,561...144,414
Ensembl chr20:91,272...140,386
JBrowse link
G M Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318
G H TMLHE trimethyllysine hydroxylase, epsilon IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr  X:155,489,011...155,612,952
Ensembl chr  X:155,489,011...155,719,098
JBrowse link
G N Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chrNW_004624801:5,320,482...5,329,125
Ensembl chrNW_004624801:5,320,556...5,329,131
JBrowse link
G G TSEN54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chr16:46,152,547...46,162,328
Ensembl chr16:46,152,869...46,161,379
JBrowse link
G P TSEN54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chr12:5,847,170...5,855,791
Ensembl chr12:5,847,187...5,854,882
JBrowse link
G S Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chrNW_004936594:744,531...753,350
Ensembl chrNW_004936594:744,494...753,350
JBrowse link
G D TSEN54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chr 9:5,009,468...5,016,513
Ensembl chr 9:5,009,468...5,016,483
JBrowse link
G B TSEN54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chr17:69,465,488...69,474,667
Ensembl chr17:75,017,351...75,025,166
JBrowse link
G C Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chrNW_004955553:2,367,476...2,376,704
Ensembl chrNW_004955553:2,367,480...2,376,704
JBrowse link
G R Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chr10:101,041,607...101,050,088
Ensembl chr10:101,042,503...101,050,087
JBrowse link
G M Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chr11:115,704,563...115,713,928
Ensembl chr11:115,705,550...115,713,920
JBrowse link
G H TSEN54 tRNA splicing endonuclease subunit 54 IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chr17:75,516,528...75,524,735
Ensembl chr17:75,515,944...75,524,735
JBrowse link
G P TUBA1A tubulin alpha 1a ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 5:15,186,059...15,190,211
Ensembl chr 5:15,185,532...15,190,428
JBrowse link
G R Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr 7:131,992,151...131,996,850
Ensembl chr 7:130,081,032...130,196,186
JBrowse link
G M Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr15:98,847,728...98,851,382
Ensembl chr15:98,847,718...98,851,584
JBrowse link
G H TUBA1A tubulin alpha 1a IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31474318 NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,324
JBrowse link
G D TUBB2A tubulin beta 2A class IIa ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:24702957 PMID:25741868 PMID:31474318 NCBI chr35:3,448,402...3,450,783
Ensembl chr35:3,448,435...3,452,091
JBrowse link
G B TUBB2A tubulin beta 2A class IIa ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:24702957 PMID:25741868 PMID:31474318 NCBI chr 6:2,993,653...2,997,570
Ensembl chr 6:3,080,751...3,255,882
JBrowse link
G R Tubb2a tubulin, beta 2A class IIa ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:24702957 PMID:25741868 PMID:31474318 NCBI chr17:31,002,186...31,006,057
Ensembl chr17:30,747,503...30,800,714
JBrowse link
G M Tubb2a tubulin, beta 2A class IIA ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:24702957 PMID:25741868 PMID:31474318 NCBI chr13:34,258,261...34,261,991
Ensembl chr13:34,258,257...34,261,990
JBrowse link
G H TUBB2A tubulin beta 2A class IIa IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:24702957 PMID:25741868 PMID:31474318 NCBI chr 6:3,153,666...3,157,544
Ensembl chr 6:3,153,497...3,157,544
JBrowse link
G N Vldlr very low density lipoprotein receptor ISO ClinVar Annotator: match by term: Cerebellar hypoplasia | ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:18414213 PMID:22973972 PMID:25741868 PMID:28492532 NCBI chrNW_004624736:7,280,478...7,316,897
Ensembl chrNW_004624736:7,280,490...7,316,946
JBrowse link
G G VLDLR very low density lipoprotein receptor ISO ClinVar Annotator: match by term: Cerebellar hypoplasia | ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:18414213 PMID:22973972 PMID:25741868 PMID:28492532 NCBI chr12:76,900,551...76,933,601
Ensembl chr12:76,899,189...76,933,584
JBrowse link
G P VLDLR very low density lipoprotein receptor ISO ClinVar Annotator: match by term: Cerebellar hypoplasia | ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:18414213 PMID:22973972 PMID:25741868 PMID:28492532 NCBI chr 1:219,178,501...219,210,332
Ensembl chr 1:219,173,507...219,210,343
JBrowse link
G S Vldlr very low density lipoprotein receptor ISO ClinVar Annotator: match by term: Cerebellar hypoplasia | ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:18414213 PMID:22973972 PMID:25741868 PMID:28492532 NCBI chrNW_004936503:2,407,040...2,440,366
Ensembl chrNW_004936503:2,405,689...2,440,502
JBrowse link
G D VLDLR very low density lipoprotein receptor ISO ClinVar Annotator: match by term: Cerebellar hypoplasia | ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:18414213 PMID:22973972 PMID:25741868 PMID:28492532 NCBI chr 1:91,242,010...91,277,030
Ensembl chr 1:91,241,509...91,272,495
JBrowse link
G B VLDLR very low density lipoprotein receptor ISO ClinVar Annotator: match by term: Cerebellar hypoplasia | ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:18414213 PMID:22973972 PMID:25741868 PMID:28492532 NCBI chr 9:2,428,639...2,463,796
Ensembl chr 9:2,621,199...2,653,980
JBrowse link
G C Vldlr very low density lipoprotein receptor ISO ClinVar Annotator: match by term: Cerebellar hypoplasia | ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:18414213 PMID:22973972 PMID:25741868 PMID:28492532 NCBI chrNW_004955434:7,013,092...7,050,103
Ensembl chrNW_004955434:7,013,092...7,050,103
JBrowse link
G R Vldlr very low density lipoprotein receptor ISO ClinVar Annotator: match by term: Cerebellar hypoplasia | ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:18414213 PMID:22973972 PMID:25741868 PMID:28492532 NCBI chr 1:234,239,769...234,272,150
Ensembl chr 1:224,814,377...224,845,920
JBrowse link
G M Vldlr very low density lipoprotein receptor ISO ClinVar Annotator: match by term: Cerebellar hypoplasia | ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:18414213 PMID:22973972 PMID:25741868 PMID:28492532 NCBI chr19:27,190,070...27,231,631
Ensembl chr19:27,193,884...27,231,631
JBrowse link
G H VLDLR very low density lipoprotein receptor IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar Annotator: match by term: Cerebellar hypoplasia
ClinVar PMID:18414213 PMID:22973972 PMID:25741868 PMID:28492532 NCBI chr 9:2,621,787...2,660,056
Ensembl chr 9:2,621,182...2,660,056
JBrowse link
G H VLDLR-AS1 VLDLR antisense RNA 1 IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:2,535,652...2,622,373
Ensembl chr 9:2,301,072...2,622,457
JBrowse link
G N Wdr37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31327508 PMID:31327510 PMID:31474318 PMID:31491411 More... NCBI chrNW_004624775:9,768,568...9,858,085
Ensembl chrNW_004624775:9,768,397...9,857,837
JBrowse link
G G WDR37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31327508 PMID:31327510 PMID:31474318 PMID:31491411 More... NCBI chr 9:1,011,478...1,085,569
Ensembl chr 9:1,011,726...1,082,773
JBrowse link
G P WDR37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31327508 PMID:31327510 PMID:31474318 PMID:31491411 More... NCBI chr10:68,416,058...68,529,662
Ensembl chr10:68,427,192...68,535,143
JBrowse link
G S Wdr37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31327508 PMID:31327510 PMID:31474318 PMID:31491411 More... NCBI chrNW_004936484:12,948,803...13,020,555
Ensembl chrNW_004936484:12,948,358...13,018,631
JBrowse link
G D WDR37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31327508 PMID:31327510 PMID:31474318 PMID:31491411 More... NCBI chr 2:33,865,534...33,912,119
Ensembl chr 2:33,682,418...33,923,843
JBrowse link
G B WDR37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31327508 PMID:31327510 PMID:31474318 PMID:31491411 More... NCBI chr10:1,093,957...1,172,209
Ensembl chr10:1,140,562...1,217,263
JBrowse link
G C Wdr37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31327508 PMID:31327510 PMID:31474318 PMID:31491411 More... NCBI chrNW_004955421:30,097,046...30,161,762
Ensembl chrNW_004955421:30,068,306...30,161,762
JBrowse link
G R Wdr37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31327508 PMID:31327510 PMID:31474318 PMID:31491411 More... NCBI chr17:66,547,425...66,613,841
Ensembl chr17:61,637,258...61,703,677
JBrowse link
G M Wdr37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31327508 PMID:31327510 PMID:31474318 PMID:31491411 More... NCBI chr13:8,853,002...8,922,136
Ensembl chr13:8,853,004...8,921,945
JBrowse link
G H WDR37 WD repeat domain 37 IAGP ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 PMID:31327508 PMID:31327510 PMID:31474318 PMID:31491411 More... NCBI chr10:1,056,385...1,132,372
Ensembl chr10:1,049,538...1,160,991
JBrowse link
cerebellar hyplasia/atrophy, epilepsy, and global developmental delay term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Oxr1 oxidation resistance 1 ISO ClinVar Annotator: match by term: OXR1-related condition OMIM
ClinVar
PMID:25741868 NCBI chrNW_004624763:22,008,477...22,344,330 JBrowse link
G G OXR1 oxidation resistance 1 ISO ClinVar Annotator: match by term: OXR1-related condition OMIM
ClinVar
PMID:25741868 NCBI chr 8:101,059,060...101,534,283
Ensembl chr 8:101,361,828...101,535,932
JBrowse link
G P OXR1 oxidation resistance 1 ISO ClinVar Annotator: match by term: OXR1-related condition OMIM
ClinVar
PMID:25741868 NCBI chr 4:30,735,844...31,254,952
Ensembl chr 4:30,734,514...31,400,997
JBrowse link
G S Oxr1 oxidation resistance 1 ISO ClinVar Annotator: match by term: OXR1-related condition OMIM
ClinVar
PMID:25741868 NCBI chrNW_004936470:37,734,149...38,137,252
Ensembl chrNW_004936470:37,734,147...38,137,679
JBrowse link
G D OXR1 oxidation resistance 1 ISO ClinVar Annotator: match by term: OXR1-related condition OMIM
ClinVar
PMID:25741868 NCBI chr13:7,220,959...7,580,881
Ensembl chr13:7,220,958...7,579,473
JBrowse link
G B OXR1 oxidation resistance 1 ISO ClinVar Annotator: match by term: OXR1-related condition OMIM
ClinVar
PMID:25741868 NCBI chr 8:102,904,139...103,392,971
Ensembl chr 8:105,143,466...105,685,965
JBrowse link
G C Oxr1 oxidation resistance 1 ISO ClinVar Annotator: match by term: OXR1-related condition OMIM
ClinVar
PMID:25741868 NCBI chrNW_004955417:29,605,962...29,875,041
Ensembl chrNW_004955417:29,605,916...29,875,041
JBrowse link
G R Oxr1 oxidation resistance 1 ISO ClinVar Annotator: match by term: OXR1-related condition OMIM
ClinVar
PMID:25741868 NCBI chr 7:74,413,609...74,850,487
Ensembl chr 7:72,528,786...72,965,666
JBrowse link
G M Oxr1 oxidation resistance 1 ISO ClinVar Annotator: match by term: OXR1-related condition OMIM
ClinVar
PMID:25741868 NCBI chr15:41,310,745...41,724,447
Ensembl chr15:41,310,878...41,724,444
JBrowse link
G H OXR1 oxidation resistance 1 IAGP ClinVar Annotator: match by term: OXR1-related condition OMIM
ClinVar
PMID:25741868 NCBI chr 8:106,270,178...106,752,694
Ensembl chr 8:106,270,144...106,752,694
JBrowse link
lissencephaly 7 with cerebellar hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Cdk5 cyclin dependent kinase 5 ISO ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia OMIM
ClinVar
PMID:25560765 PMID:25741868 NCBI chrNW_004624800:5,562,468...5,566,458
Ensembl chrNW_004624800:5,562,462...5,569,937
JBrowse link
G G CDK5 cyclin dependent kinase 5 ISO ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia OMIM
ClinVar
PMID:25560765 PMID:25741868 NCBI chr21:119,235,687...119,240,163 JBrowse link
G P CDK5 cyclin dependent kinase 5 ISO ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia OMIM
ClinVar
PMID:25560765 PMID:25741868 NCBI chr18:6,166,914...6,171,157 JBrowse link
G S Cdk5 cyclin dependent kinase 5 ISO ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia OMIM
ClinVar
PMID:25560765 PMID:25741868 NCBI chrNW_004936527:6,478,934...6,483,848
Ensembl chrNW_004936527:6,478,982...6,483,866
JBrowse link
G D CDK5 cyclin dependent kinase 5 ISO ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia OMIM
ClinVar
PMID:25560765 PMID:25741868 NCBI chr16:15,105,177...15,113,085
Ensembl chr16:15,101,230...15,109,269
JBrowse link
G B CDK5 cyclin dependent kinase 5 ISO ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia OMIM
ClinVar
PMID:25560765 PMID:25741868 NCBI chr 7:142,640,630...142,644,785
Ensembl chr 7:154,793,344...154,797,499
JBrowse link
G C Cdk5 cyclin dependent kinase 5 ISO ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia OMIM
ClinVar
PMID:25560765 PMID:25741868 NCBI chrNW_004955491:5,491,744...5,497,280
Ensembl chrNW_004955491:5,491,744...5,497,280
JBrowse link
G R Cdk5 cyclin-dependent kinase 5 ISO ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia OMIM
ClinVar
PMID:25560765 PMID:25741868 NCBI chr 4:11,647,098...11,651,606
Ensembl chr 4:10,754,687...10,760,112
JBrowse link
G M Cdk5 cyclin dependent kinase 5 ISO ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia OMIM
ClinVar
PMID:25560765 PMID:25741868 NCBI chr 5:24,612,595...24,628,737
Ensembl chr 5:24,623,239...24,628,528
JBrowse link
G H CDK5 cyclin dependent kinase 5 IAGP ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia ClinVar
OMIM
PMID:25560765 PMID:25741868 NCBI chr 7:151,053,815...151,057,897
Ensembl chr 7:151,053,815...151,057,897
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Ints8 integrator complex subunit 8 ISO ClinVar Annotator: match by term: INTS8-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:28763441 NCBI chrNW_004624763:2,185,841...2,242,469
Ensembl chrNW_004624763:2,186,027...2,242,393
JBrowse link
G G INTS8 integrator complex subunit 8 ISO ClinVar Annotator: match by term: INTS8-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:28763441 NCBI chr 8:89,790,758...89,846,764
Ensembl chr 8:89,790,758...89,850,755
JBrowse link
G P INTS8 integrator complex subunit 8 ISO ClinVar Annotator: match by term: INTS8-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:28763441 NCBI chr 4:41,820,718...41,878,857
Ensembl chr 4:41,821,768...41,878,690
JBrowse link
G S Ints8 integrator complex subunit 8 ISO ClinVar Annotator: match by term: INTS8-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:28763441 NCBI chrNW_004936544:7,784,093...7,839,646
Ensembl chrNW_004936544:7,784,242...7,839,565
JBrowse link
G D INTS8 integrator complex subunit 8 ISO ClinVar Annotator: match by term: INTS8-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:28763441 NCBI chr29:39,482,834...39,533,761
Ensembl chr29:39,474,640...39,533,719
JBrowse link
G B INTS8 integrator complex subunit 8 ISO ClinVar Annotator: match by term: INTS8-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:28763441 NCBI chr 8:91,442,560...91,499,916
Ensembl chr 8:93,645,053...93,702,373
JBrowse link
G C Ints8 integrator complex subunit 8 ISO ClinVar Annotator: match by term: INTS8-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:28763441 NCBI chrNW_004955417:10,975,716...11,027,697
Ensembl chrNW_004955417:10,975,103...11,027,697
JBrowse link
G R Ints8 integrator complex subunit 8 ISO ClinVar Annotator: match by term: INTS8-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:28763441 NCBI chr 5:24,295,542...24,344,642
Ensembl chr 5:24,297,191...24,344,740
JBrowse link
G M Ints8 integrator complex subunit 8 ISO ClinVar Annotator: match by term: INTS8-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:28763441 NCBI chr 4:11,199,158...11,254,264
Ensembl chr 4:11,199,158...11,254,258
JBrowse link
G H INTS8 integrator complex subunit 8 IAGP ClinVar Annotator: match by term: INTS8-related condition
ClinVar Annotator: match by term: INTS8-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity
OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:28763441 NCBI chr 8:94,823,287...94,881,746
Ensembl chr 8:94,813,311...94,881,746
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Exoc2 exocyst complex component 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia OMIM
ClinVar
PMID:25741868 PMID:32639540 NCBI chrNW_004624756:23,740,248...23,878,386
Ensembl chrNW_004624756:23,740,233...23,880,876
JBrowse link
G G EXOC2 exocyst complex component 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia OMIM
ClinVar
PMID:25741868 PMID:32639540 NCBI chr17:71,463,836...71,668,429
Ensembl chr17:71,473,962...71,670,095
JBrowse link
G P EXOC2 exocyst complex component 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia OMIM
ClinVar
PMID:25741868 PMID:32639540 NCBI chr 7:195,079...341,470
Ensembl chr 7:195,083...341,442
JBrowse link
G S Exoc2 exocyst complex component 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia OMIM
ClinVar
PMID:25741868 PMID:32639540 NCBI chrNW_004936633:1,657,326...1,848,113
Ensembl chrNW_004936633:1,657,320...1,848,407
JBrowse link
G D EXOC2 exocyst complex component 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia OMIM
ClinVar
PMID:25741868 PMID:32639540 NCBI chr35:859,158...1,084,228
Ensembl chr35:859,837...1,084,228
JBrowse link
G B EXOC2 exocyst complex component 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia OMIM
ClinVar
PMID:25741868 PMID:32639540 NCBI chr 6:299,500...504,029
Ensembl chr 6:435,538...583,027
JBrowse link
G C Exoc2 exocyst complex component 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia OMIM
ClinVar
PMID:25741868 PMID:32639540 NCBI chrNW_004955465:12,327,423...12,457,171
Ensembl chrNW_004955465:12,330,483...12,461,281
JBrowse link
G R Exoc2 exocyst complex component 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia OMIM
ClinVar
PMID:25741868 PMID:32639540 NCBI chr17:33,714,949...33,906,901
Ensembl chr17:33,506,338...33,693,289
JBrowse link
G M Exoc2 exocyst complex component 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia OMIM
ClinVar
PMID:25741868 PMID:32639540 NCBI chr13:30,968,421...31,162,082
Ensembl chr13:30,968,416...31,158,076
JBrowse link
G H EXOC2 exocyst complex component 2 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia OMIM
ClinVar
PMID:25741868 PMID:32639540 NCBI chr 6:485,154...693,139
Ensembl chr 6:485,154...693,139
JBrowse link
G G HUS1B HUS1 checkpoint clamp component B ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia ClinVar NCBI chr17:71,502,951...71,504,134 JBrowse link
G S Hus1b HUS1 checkpoint clamp component B ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia ClinVar NCBI chrNW_004936633:1,820,063...1,821,150 JBrowse link
G B HUS1B HUS1 checkpoint clamp component B ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia ClinVar NCBI chr 6:466,508...469,590
Ensembl chr 6:601,288...602,124
JBrowse link
G R Hus1b HUS1 checkpoint clamp component B ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia ClinVar NCBI chr17:33,534,032...33,535,199 JBrowse link
G M Hus1b HUS1 checkpoint clamp component B ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia ClinVar NCBI chr13:31,130,559...31,131,744
Ensembl chr13:31,130,556...31,131,742
JBrowse link
G H HUS1B HUS1 checkpoint clamp component B IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia ClinVar NCBI chr 6:655,939...657,100
Ensembl chr 6:655,939...657,100
JBrowse link
G H LOC126859547 CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:563721-564920 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia ClinVar PMID:32639540 NCBI chr 6:563,721...564,920 JBrowse link
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H LOC130002869 ATAC-STARR-seq lymphoblastoid active region 29216 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia ClinVar NCBI chr 9:132,079,764...132,080,043 JBrowse link
G N Med27 mediator complex subunit 27 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia OMIM
ClinVar
PMID:33443317 NCBI chrNW_004624760:4,137,897...4,324,173
Ensembl chrNW_004624760:4,137,858...4,324,266
JBrowse link
G G MED27 mediator complex subunit 27 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia OMIM
ClinVar
PMID:33443317 NCBI chr12:6,062,604...6,281,039
Ensembl chr12:6,062,569...6,281,050
JBrowse link
G P MED27 mediator complex subunit 27 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia OMIM
ClinVar
PMID:33443317 NCBI chr 1:271,724,910...271,928,367
Ensembl chr 1:271,724,910...271,928,367
JBrowse link
G S Med27 mediator complex subunit 27 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia OMIM
ClinVar
PMID:33443317 NCBI chrNW_004936487:18,523,979...18,711,584
Ensembl chrNW_004936487:18,523,010...18,711,618
JBrowse link
G D MED27 mediator complex subunit 27 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia OMIM
ClinVar
PMID:33443317 NCBI chr 9:52,136,652...52,331,676
Ensembl chr 9:52,136,698...52,328,998
JBrowse link
G B MED27 mediator complex subunit 27 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia OMIM
ClinVar
PMID:33443317 NCBI chr 9:102,982,174...103,199,512
Ensembl chr 9:131,619,441...131,835,951
JBrowse link
G R Med27 mediator complex subunit 27 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia ClinVar
OMIM
PMID:33443317 NCBI chr 3:33,027,240...33,201,240
Ensembl chr 3:12,629,603...12,803,339
JBrowse link
G M Med27 mediator complex subunit 27 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia ClinVar
OMIM
PMID:33443317 NCBI chr 2:29,236,822...29,414,802
Ensembl chr 2:29,236,831...29,414,805
JBrowse link
G H MED27 mediator complex subunit 27 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia OMIM
ClinVar
PMID:33443317 NCBI chr 9:131,860,112...132,079,867
Ensembl chr 9:131,852,928...132,079,867
JBrowse link
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis ClinVar PMID:1971144 PMID:2014036 PMID:2564729 PMID:8533759 PMID:9101291 More... NCBI chrNW_004624750:5,527,720...5,598,173
Ensembl chrNW_004624750:5,527,638...5,601,964
JBrowse link
G G PAH phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis ClinVar PMID:1971144 PMID:2014036 PMID:2564729 PMID:8533759 PMID:9101291 More... NCBI chr11:98,065,869...98,140,011
Ensembl chr11:98,063,199...98,139,285
JBrowse link
G P PAH phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis ClinVar PMID:1971144 PMID:2014036 PMID:2564729 PMID:8533759 PMID:9101291 More... NCBI chr 5:81,385,401...81,460,569
Ensembl chr 5:81,385,435...81,463,451
JBrowse link
G S Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis ClinVar PMID:1971144 PMID:2014036 PMID:2564729 PMID:8533759 PMID:9101291 More... NCBI chrNW_004936492:11,342,566...11,412,323
Ensembl chrNW_004936492:11,342,518...11,412,209
JBrowse link
G D PAH phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis ClinVar PMID:1971144 PMID:2014036 PMID:2564729 PMID:8533759 PMID:9101291 More... NCBI chr15:41,590,253...41,670,156
Ensembl chr15:41,592,876...41,670,837
JBrowse link
G B PAH phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis ClinVar PMID:1971144 PMID:2014036 PMID:2564729 PMID:8533759 PMID:9101291 More... NCBI chr12:100,417,267...100,496,888
Ensembl chr12:103,811,761...103,891,726
JBrowse link
G C Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis ClinVar PMID:1971144 PMID:2014036 PMID:2564729 PMID:8533759 PMID:9101291 More... NCBI chrNW_004955405:37,848,486...37,909,163
Ensembl chrNW_004955405:37,846,354...37,909,457
JBrowse link
G R Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis ClinVar PMID:1971144 PMID:2014036 PMID:2564729 PMID:8533759 PMID:9101291 More... NCBI chr 7:23,793,096...23,885,631
Ensembl chr 7:21,933,179...21,998,130
JBrowse link
G M Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis ClinVar PMID:1971144 PMID:2014036 PMID:2564729 PMID:8533759 PMID:9101291 More... NCBI chr10:87,357,657...87,419,999
Ensembl chr10:87,357,657...87,419,998
JBrowse link
G H PAH phenylalanine hydroxylase IAGP ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis ClinVar PMID:1971144 PMID:2014036 PMID:2564729 PMID:8533759 PMID:9101291 More... NCBI chr12:102,836,889...102,958,441
Ensembl chr12:102,836,889...102,958,410
JBrowse link
G N Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis OMIM
ClinVar
PMID:25741868 PMID:25855803 PMID:26752647 PMID:28492532 PMID:34415310 More... NCBI chrNW_004624945:837,877...1,016,041
Ensembl chrNW_004624945:837,864...1,014,684
JBrowse link
G G PI4KA phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis OMIM
ClinVar
PMID:25741868 PMID:25855803 PMID:26752647 PMID:28492532 PMID:34415310 More... NCBI chr19:4,648,184...4,797,573
Ensembl chr19:4,648,183...4,797,396
JBrowse link
G P PI4KA phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis OMIM
ClinVar
PMID:25741868 PMID:25855803 PMID:26752647 PMID:28492532 PMID:34415310 More... NCBI chr14:50,390,416...50,491,983
Ensembl chr14:50,390,410...50,491,944
JBrowse link
G S Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis OMIM
ClinVar
PMID:25741868 PMID:25855803 PMID:26752647 PMID:28492532 PMID:34415310 More... NCBI chrNW_004936619:2,240,641...2,377,088
Ensembl chrNW_004936619:2,240,266...2,377,093
JBrowse link
G D PI4KA phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis OMIM
ClinVar
PMID:25741868 PMID:25855803 PMID:26752647 PMID:28492532 PMID:34415310 More... NCBI chr26:30,630,693...30,749,158
Ensembl chr26:30,630,261...30,749,126
JBrowse link
G B PI4KA phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis OMIM
ClinVar
PMID:25741868 PMID:25855803 PMID:26752647 PMID:28492532 PMID:34415310 More... NCBI chr22:2,931,523...3,082,475 JBrowse link
G C Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis OMIM
ClinVar
PMID:25741868 PMID:25855803 PMID:26752647 PMID:28492532 PMID:34415310 More... NCBI chrNW_004955442:19,446,955...19,594,790
Ensembl chrNW_004955442:19,446,955...19,598,725
JBrowse link
G R Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis OMIM
ClinVar
PMID:25741868 PMID:25855803 PMID:26752647 PMID:28492532 PMID:34415310 More... NCBI chr11:97,113,390...97,234,374
Ensembl chr11:83,609,069...83,724,080
JBrowse link
G M Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis OMIM
ClinVar
PMID:25741868 PMID:25855803 PMID:26752647 PMID:28492532 PMID:34415310 More... NCBI chr16:17,098,215...17,224,178
Ensembl chr16:17,098,215...17,224,178
JBrowse link
G H PI4KA phosphatidylinositol 4-kinase alpha IAGP ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis ClinVar
OMIM
PMID:25741868 PMID:25855803 PMID:26752647 PMID:28492532 PMID:34415310 More... NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417
JBrowse link
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Als2cl ALS2 C-terminal like ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:74,509,658...74,525,221 JBrowse link
G G ALS2CL ALS2 C-terminal like ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:8,093,439...8,116,940
Ensembl chr22:8,091,528...8,110,881
JBrowse link
G P ALS2CL ALS2 C-terminal like ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:29,596,696...29,618,915
Ensembl chr13:29,596,700...29,618,919
JBrowse link
G S Als2cl ALS2 C-terminal like ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:506,088...525,576
Ensembl chrNW_004936596:506,077...525,746
JBrowse link
G D ALS2CL ALS2 C-terminal like ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:42,067,018...42,091,125
Ensembl chr20:42,066,833...42,088,321
JBrowse link
G B ALS2CL ALS2 C-terminal like ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,568,200...46,591,331
Ensembl chr 3:47,671,286...47,695,772
JBrowse link
G C Als2cl ALS2 C-terminal like ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955420:25,440,641...25,455,872 JBrowse link
G R Als2cl ALS2 C-terminal like ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:119,746,498...119,762,824
Ensembl chr 8:110,864,975...110,884,419
JBrowse link
G M Als2cl ALS2 C-terminal like ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:110,709,203...110,729,598
Ensembl chr 9:110,708,938...110,729,598
JBrowse link
G H ALS2CL ALS2 C-terminal like IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,668,995...46,693,679
Ensembl chr 3:46,668,995...46,693,704
JBrowse link
G N Arih2 ariadne RBR E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:2,953,649...3,023,716
Ensembl chrNW_004624730:2,953,669...3,023,042
JBrowse link
G G ARIH2 ariadne RBR E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532
G P ARIH2 ariadne RBR E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:31,570,026...31,623,833
Ensembl chr13:31,570,088...31,625,226
JBrowse link
G S Arih2 ariadne RBR E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:648,661...713,616
Ensembl chrNW_004936529:648,675...713,675
JBrowse link
G D ARIH2 ariadne RBR E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:40,178,560...40,230,870
Ensembl chr20:40,179,168...40,230,880
JBrowse link
G B ARIH2 ariadne RBR E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,844,161...48,910,183
Ensembl chr 3:49,926,453...49,991,924
JBrowse link
G C Arih2 ariadne RBR E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955532:933,749...1,008,619
Ensembl chrNW_004955532:933,749...1,008,619
JBrowse link
G R Arih2 ariadne RBR E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:118,175,267...118,234,425
Ensembl chr 8:109,296,738...109,355,852
JBrowse link
G M Arih2 ariadne RBR E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,480,141...108,531,917
Ensembl chr 9:108,480,141...108,526,585
JBrowse link
G H ARIH2 ariadne RBR E3 ubiquitin protein ligase 2 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,918,842...48,986,382
Ensembl chr 3:48,918,821...48,986,382
JBrowse link
G P ARIH2OS ARIH2 opposite strand lncRNA ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:31,569,765...31,570,548 JBrowse link
G H ARIH2OS ARIH2 opposite strand lncRNA IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,917,788...48,919,385
Ensembl chr 3:48,917,765...48,918,829
JBrowse link
G D ATRIP ATR interacting protein ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:40,626,828...40,642,689
Ensembl chr20:40,626,831...40,642,594
JBrowse link
G M Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,888,815...108,903,192
Ensembl chr 9:108,887,001...108,903,192
JBrowse link
G H ATRIP ATR interacting protein IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,446,737...48,467,645
Ensembl chr 3:48,446,710...48,467,645
JBrowse link
G N Camp cathelicidin antimicrobial peptide ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:73,429,893...73,431,104 JBrowse link
G G CAMP cathelicidin antimicrobial peptide ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:9,610,180...9,618,629
Ensembl chr22:9,610,298...9,613,016
JBrowse link
G D CAMP cathelicidin antimicrobial peptide ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:40,790,823...40,792,781
Ensembl chr20:40,790,811...40,792,794
JBrowse link
G B CAMP cathelicidin antimicrobial peptide ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,137,785...48,139,893
Ensembl chr 3:49,222,110...49,224,250
JBrowse link
G C Camp cathelicidin antimicrobial peptide ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955420:24,911,920...24,914,698 JBrowse link
G R Camp cathelicidin antimicrobial peptide ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:118,720,184...118,721,998
Ensembl chr 8:109,841,729...109,843,543
JBrowse link
G M Camp cathelicidin antimicrobial peptide ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:109,676,445...109,678,524
Ensembl chr 9:109,676,447...109,678,685
JBrowse link
G H CAMP cathelicidin antimicrobial peptide IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,223,495...48,225,485
Ensembl chr 3:48,223,347...48,225,491
JBrowse link
G N Ccdc12 coiled-coil domain containing 12 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:74,307,144...74,354,904
Ensembl chrNW_004624730:74,308,926...74,354,904
JBrowse link
G G CCDC12 coiled-coil domain containing 12 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:8,326,480...8,384,985
Ensembl chr22:8,326,798...8,381,938
JBrowse link
G P CCDC12 coiled-coil domain containing 12 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:29,785,581...29,846,683
Ensembl chr13:29,786,091...29,846,688
JBrowse link
G S Ccdc12 coiled-coil domain containing 12 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:707,841...756,285
Ensembl chrNW_004936596:703,943...756,362
JBrowse link
G D CCDC12 coiled-coil domain containing 12 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:41,838,497...41,889,902
Ensembl chr20:41,834,095...41,890,482
JBrowse link
G B CCDC12 coiled-coil domain containing 12 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,822,128...46,882,217
Ensembl chr 3:47,923,673...47,978,660
JBrowse link
G C Ccdc12 coiled-coil domain containing 12 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955420:25,212,888...25,257,733
Ensembl chrNW_004955420:25,212,422...25,257,741
JBrowse link
G R Ccdc12 coiled-coil domain containing 12 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:110,635,276...110,686,417
Ensembl chr 8:110,635,710...110,686,417
JBrowse link
G M Ccdc12 coiled-coil domain containing 12 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:110,483,376...110,540,661
Ensembl chr 9:110,485,571...110,540,674
JBrowse link
G H CCDC12 coiled-coil domain containing 12 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,921,730...46,981,994
Ensembl chr 3:46,916,634...46,982,010
JBrowse link
G N Ccdc51 coiled-coil domain containing 51 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:2,398,215...2,406,094
Ensembl chrNW_004624730:2,395,664...2,406,062
JBrowse link
G G CCDC51 coiled-coil domain containing 51 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:9,835,132...9,843,611
Ensembl chr22:9,835,379...9,838,114
JBrowse link
G P CCDC51 coiled-coil domain containing 51 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:31,143,490...31,153,600
Ensembl chr13:31,143,480...31,153,563
JBrowse link
G S Ccdc51 coiled-coil domain containing 51 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:228,135...239,343
Ensembl chrNW_004936529:227,969...239,349
JBrowse link
G D CCDC51 coiled-coil domain containing 51 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:40,648,356...40,656,855
Ensembl chr20:40,653,852...40,657,619
JBrowse link
G B CCDC51 coiled-coil domain containing 51 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,354,203...48,362,173
Ensembl chr 3:49,436,988...49,445,819
JBrowse link
G C Ccdc51 coiled-coil domain containing 51 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955532:500,963...509,437
Ensembl chrNW_004955532:500,963...509,325
JBrowse link
G R Ccdc51 coiled-coil domain containing 51 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:118,601,002...118,619,943
Ensembl chr 8:109,722,557...109,741,472
JBrowse link
G M Ccdc51 coiled-coil domain containing 51 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,911,564...108,922,431
Ensembl chr 9:108,911,561...108,921,557
JBrowse link
G H CCDC51 coiled-coil domain containing 51 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,432,173...48,446,652
Ensembl chr 3:48,432,164...48,440,456
JBrowse link
G G CCR1 C-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:7,634,205...7,641,380 JBrowse link
G P CCR1 C-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:29,227,218...29,233,862
Ensembl chr13:29,227,222...29,233,960
JBrowse link
G D CCR1 chemokine (C-C motif) receptor 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:42,421,356...42,427,177
Ensembl chr20:42,421,356...42,426,958
JBrowse link
G B CCR1 C-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,107,526...46,114,229
Ensembl chr 3:47,214,688...47,215,755
JBrowse link
G R Ccr1 C-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:132,433,711...132,439,266 JBrowse link
G M Ccr1 C-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:123,762,163...123,768,729
Ensembl chr 9:123,762,161...123,768,729
JBrowse link
G H CCR1 C-C motif chemokine receptor 1 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313
JBrowse link
G G CCR2 C-C motif chemokine receptor 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:7,795,192...7,801,242
Ensembl chr22:7,798,646...7,799,728
JBrowse link
G P CCR2 C-C motif chemokine receptor 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,369,122...29,376,343
JBrowse link
G P CCR2 C-C motif chemokine receptor 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:29,251,950...29,286,470
Ensembl chr13:29,285,012...29,286,467
JBrowse link
G D CCR2 C-C motif chemokine receptor 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:42,305,344...42,313,258
Ensembl chr20:42,307,580...42,308,698
JBrowse link
G B CCR2 C-C motif chemokine receptor 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312
JBrowse link
G C Ccr2 C-C motif chemokine receptor 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955420:25,641,184...25,664,413 JBrowse link
G R Ccr2 C-C motif chemokine receptor 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:123,734,430...123,742,100
JBrowse link
G M Ccr2 C-C motif chemokine receptor 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594
JBrowse link
G H CCR2 C-C motif chemokine receptor 2 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940
JBrowse link
G N Ccr3 C-C motif chemokine receptor 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:74,768,668...74,769,749
Ensembl chrNW_004624730:74,768,668...74,769,798
JBrowse link
G G CCR3 C-C motif chemokine receptor 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:7,648,410...7,698,523
Ensembl chr22:7,697,068...7,698,135
JBrowse link
G S Ccr3 C-C motif chemokine receptor 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:223,660...224,739
Ensembl chrNW_004936596:223,660...224,739
JBrowse link
G D CCR3 C-C motif chemokine receptor 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:42,382,380...42,398,449
Ensembl chr20:42,383,135...42,384,217
JBrowse link
G B CCR3 C-C motif chemokine receptor 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,147,928...46,172,947
Ensembl chr 3:47,253,878...47,278,630
JBrowse link
G C Ccr3 C-C motif chemokine receptor 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955420:25,702,917...25,723,269
Ensembl chrNW_004955420:25,701,407...25,723,353
JBrowse link
G R Ccr3 C-C motif chemokine receptor 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:132,463,533...132,511,601
Ensembl chr 8:123,616,236...123,634,990
JBrowse link
G M Ccr3 C-C motif chemokine receptor 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:123,817,799...123,831,729
Ensembl chr 9:123,822,009...123,831,726
JBrowse link
G H CCR3 C-C motif chemokine receptor 3 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,210,696...46,266,706
Ensembl chr 3:46,130,890...46,266,706
JBrowse link
G G CCR5 C-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:7,803,794...7,818,112 JBrowse link
G P CCR5 C-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895
JBrowse link
G D CCR5 C-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:42,293,288...42,297,952
Ensembl chr20:42,294,996...42,297,952
JBrowse link
G B CCR5 C-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379
JBrowse link
G R Ccr5 C-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G M Ccr5 C-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
JBrowse link
G H CCR5 C-C motif chemokine receptor 5 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
JBrowse link
G N Ccr9 C-C motif chemokine receptor 9 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:74,989,725...74,991,400
Ensembl chrNW_004624730:74,990,318...74,996,239
JBrowse link
G G CCR9 C-C motif chemokine receptor 9 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:7,354,139...7,375,280
Ensembl chr22:7,354,489...7,377,676
JBrowse link
G P CCR9 C-C motif chemokine receptor 9 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:29,033,609...29,051,227
Ensembl chr13:29,033,570...29,054,598
JBrowse link
G S Ccr9 C-C motif chemokine receptor 9 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936695:55,788...59,251
Ensembl chrNW_004936695:55,788...59,251
JBrowse link
G D CCR9 C-C motif chemokine receptor 9 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:42,607,024...42,616,823
Ensembl chr20:42,607,024...42,616,823
JBrowse link
G B CCR9 C-C motif chemokine receptor 9 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:45,719,655...45,810,964
Ensembl chr 3:46,900,845...46,917,443
JBrowse link
G C Ccr9 C-C motif chemokine receptor 9 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955420:26,083,445...26,093,740
Ensembl chrNW_004955420:26,083,040...26,093,775
JBrowse link
G R Ccr9 C-C motif chemokine receptor 9 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:132,273,581...132,287,651
Ensembl chr 8:123,395,813...123,413,969
JBrowse link
G M Ccr9 C-C motif chemokine receptor 9 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:123,596,276...123,612,522
Ensembl chr 9:123,507,504...123,613,395
JBrowse link
G H CCR9 C-C motif chemokine receptor 9 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:45,886,064...45,903,174
Ensembl chr 3:45,884,425...45,903,174
JBrowse link
G N Ccrl2 C-C motif chemokine receptor like 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:74,671,736...74,674,030 JBrowse link
G G CCRL2 C-C motif chemokine receptor like 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:7,835,224...7,847,762
Ensembl chr22:7,846,319...7,847,353
JBrowse link
G P CCRL2 C-C motif chemokine receptor like 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:29,402,488...29,410,508
Ensembl chr13:29,402,538...29,404,607
JBrowse link
G S Ccrl2 C-C motif chemokine receptor like 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:319,841...320,911 JBrowse link
G D CCRL2 C-C motif chemokine receptor like 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:42,270,431...42,272,498
Ensembl chr20:42,270,477...42,271,526
JBrowse link
G B CCRL2 C-C motif chemokine receptor like 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,296,556...46,311,246
Ensembl chr 3:47,414,124...47,415,562
JBrowse link
G C Ccrl2 C-C motif chemokine receptor like 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955420:25,613,632...25,616,770 JBrowse link
G R Ccrl2 C-C motif chemokine receptor like 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:119,912,671...119,915,313
Ensembl chr 8:111,034,279...111,036,664
JBrowse link
G M Ccrl2 C-C motif chemokine receptor-like 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:110,883,902...110,886,586
Ensembl chr 9:110,883,554...110,886,587
JBrowse link
G H CCRL2 C-C motif chemokine receptor like 2 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,407,259...46,409,523
Ensembl chr 3:46,407,166...46,412,997
JBrowse link
G N Cdc25a cell division cycle 25A ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:73,443,895...73,463,979
Ensembl chrNW_004624730:73,443,731...73,464,486
JBrowse link
G G CDC25A cell division cycle 25A ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:9,534,114...9,564,927
Ensembl chr22:9,534,053...9,564,741
JBrowse link
G P CDC25A cell division cycle 25A ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532
G S Cdc25a cell division cycle 25A ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:1,657,411...1,680,109
Ensembl chrNW_004936596:1,659,159...1,678,788
JBrowse link
G D CDC25A cell division cycle 25A ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:40,823,683...40,849,113
Ensembl chr20:40,823,459...40,847,608
JBrowse link
G B CDC25A cell division cycle 25A ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,068,601...48,099,806
Ensembl chr 3:49,154,307...49,186,115
JBrowse link
G C Cdc25a cell division cycle 25A ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955420:24,345,002...24,361,802
Ensembl chrNW_004955420:24,344,388...24,362,596
JBrowse link
G R Cdc25a cell division cycle 25A ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:118,742,824...118,761,190
Ensembl chr 8:109,864,478...109,882,701
JBrowse link
G M Cdc25a cell division cycle 25A ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:109,704,545...109,722,963
Ensembl chr 9:109,704,647...109,722,963
JBrowse link
G H CDC25A cell division cycle 25A IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,157,146...48,188,417
Ensembl chr 3:48,157,146...48,188,417
JBrowse link
G N Celsr3 cadherin EGF LAG seven-pass G-type receptor 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:2,650,096...2,675,930
Ensembl chrNW_004624730:2,651,756...2,675,923
JBrowse link
G G CELSR3 cadherin EGF LAG seven-pass G-type receptor 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:10,046,361...10,073,689
Ensembl chr22:10,045,900...10,072,395
JBrowse link
G P CELSR3 cadherin EGF LAG seven-pass G-type receptor 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:31,331,563...31,357,374
Ensembl chr13:31,331,574...31,357,469
JBrowse link
G S Celsr3 cadherin EGF LAG seven-pass G-type receptor 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:437,476...464,012
Ensembl chrNW_004936529:437,418...464,017
JBrowse link
G D CELSR3 cadherin EGF LAG seven-pass G-type receptor 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:40,457,430...40,495,128
Ensembl chr20:40,457,657...40,483,881
JBrowse link
G B CELSR3 cadherin EGF LAG seven-pass G-type receptor 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,557,976...48,586,051
Ensembl chr 3:49,639,942...49,667,335
JBrowse link
G C Celsr3 cadherin EGF LAG seven-pass G-type receptor 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955532:724,306...749,192
Ensembl chrNW_004955532:725,243...749,173
JBrowse link
G R Celsr3 cadherin, EGF LAG seven-pass G-type receptor 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:118,409,136...118,438,593
Ensembl chr 8:109,530,641...109,558,354
JBrowse link
G M Celsr3 cadherin, EGF LAG seven-pass G-type receptor 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,703,244...108,730,168
Ensembl chr 9:108,703,519...108,730,168
JBrowse link
G H CELSR3 cadherin EGF LAG seven-pass G-type receptor 3 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,636,463...48,662,886
Ensembl chr 3:48,636,463...48,662,886
JBrowse link
G N Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:2,569,510...2,599,959 JBrowse link
G G COL7A1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:9,964,652...9,996,785
Ensembl chr22:9,964,651...9,996,626
JBrowse link
G P COL7A1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:31,262,750...31,295,112 JBrowse link
G S Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:348,938...381,701 JBrowse link
G D COL7A1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:40,519,121...40,550,305
Ensembl chr20:40,519,378...40,552,935
JBrowse link
G B COL7A1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,485,922...48,518,036
Ensembl chr 3:49,568,163...49,598,919
JBrowse link
G C Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955532:650,913...681,186 JBrowse link
G R Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:118,483,364...118,515,736
Ensembl chr 8:109,604,861...109,637,252
JBrowse link
G M Col7a1 collagen, type VII, alpha 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,782,654...108,813,943
Ensembl chr 9:108,782,654...108,813,943
JBrowse link
G H COL7A1 collagen type VII alpha 1 chain IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
JBrowse link
G N Cripto cripto, EGF-CFC family member ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:74,547,226...74,550,526 JBrowse link
G G CRIPTO cripto, EGF-CFC family member ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:7,993,724...8,000,935
Ensembl chr22:7,997,383...8,000,629
JBrowse link
G P CRIPTO cripto, EGF-CFC family member ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:29,537,874...29,544,686
Ensembl chr13:29,540,314...29,543,893
JBrowse link
G S Cripto cripto, EGF-CFC family member ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:451,483...453,892 JBrowse link
G D CRIPTO cripto, EGF-CFC family member ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:42,137,939...42,140,590 JBrowse link
G B CRIPTO cripto, EGF-CFC family member ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,473,282...46,478,454
Ensembl chr 3:47,577,949...47,583,126
JBrowse link
G C Cripto cripto, EGF-CFC family member ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955420:25,476,975...25,479,969
Ensembl chrNW_004955420:25,477,122...25,479,969
JBrowse link
G R Cripto cripto, EGF-CFC family member ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:119,803,182...119,808,714
Ensembl chr 8:110,925,024...110,930,308
JBrowse link
G M Cripto cripto, EGF-CFC family member ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:110,768,676...110,775,226
Ensembl chr 9:110,768,671...110,775,226
JBrowse link
G H CRIPTO cripto, EGF-CFC family member IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457
JBrowse link
G N Cspg5 chondroitin sulfate proteoglycan 5 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:73,860,578...73,871,515
Ensembl chrNW_004624730:73,861,847...73,873,521
JBrowse link
G G CSPG5 chondroitin sulfate proteoglycan 5 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:8,963,493...8,982,308
Ensembl chr22:8,963,676...8,980,225
JBrowse link
G P CSPG5 chondroitin sulfate proteoglycan 5 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:30,387,225...30,404,181
Ensembl chr13:30,387,224...30,411,850
JBrowse link
G S Cspg5 chondroitin sulfate proteoglycan 5 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:1,235,550...1,251,100
Ensembl chrNW_004936596:1,235,545...1,251,166
JBrowse link
G D CSPG5 chondroitin sulfate proteoglycan 5 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:41,344,098...41,356,810
Ensembl chr20:41,344,093...41,356,800
JBrowse link
G B CSPG5 chondroitin sulfate proteoglycan 5 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:47,464,341...47,482,910
Ensembl chr 3:48,564,199...48,580,048
JBrowse link
G C Cspg5 chondroitin sulfate proteoglycan 5 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955420:24,735,155...24,746,580
Ensembl chrNW_004955420:24,734,561...24,747,414
JBrowse link
G R Cspg5 chondroitin sulfate proteoglycan 5 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:110,220,506...110,234,766
Ensembl chr 8:110,220,653...110,234,758
JBrowse link
G M Cspg5 chondroitin sulfate proteoglycan 5 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:110,072,851...110,091,644
Ensembl chr 9:110,072,851...110,091,644
JBrowse link
G H CSPG5 chondroitin sulfate proteoglycan 5 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:47,562,238...47,580,240
Ensembl chr 3:47,562,238...47,580,792
JBrowse link
G N Cxcr6 C-X-C motif chemokine receptor 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:74,960,324...74,961,337 JBrowse link
G G CXCR6 C-X-C motif chemokine receptor 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:7,413,871...7,419,229
Ensembl chr22:7,414,334...7,419,213
JBrowse link
G P CXCR6 C-X-C motif chemokine receptor 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:29,095,900...29,100,666
Ensembl chr13:29,095,900...29,100,667
JBrowse link
G S Cxcr6 C-X-C motif chemokine receptor 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:31,641...44,561
Ensembl chrNW_004936596:37,067...38,092
JBrowse link
G D CXCR6 C-X-C motif chemokine receptor 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:42,565,251...42,569,647
Ensembl chr20:42,565,251...42,566,276
JBrowse link
G B CXCR6 C-X-C motif chemokine receptor 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:45,848,722...45,856,145
Ensembl chr 3:46,960,610...46,961,638
JBrowse link
G C Cxcr6 C-X-C motif chemokine receptor 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955420:26,056,464...26,061,992
Ensembl chrNW_004955420:26,058,170...26,059,216
JBrowse link
G R Cxcr6 C-X-C motif chemokine receptor 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:132,311,834...132,317,001
Ensembl chr 8:123,416,325...123,439,526
JBrowse link
G M Cxcr6 C-X-C motif chemokine receptor 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:123,635,542...123,640,819
Ensembl chr 9:123,635,540...123,640,825
JBrowse link
G H CXCR6 C-X-C motif chemokine receptor 6 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:45,940,915...45,948,351
Ensembl chr 3:45,940,933...45,948,351
JBrowse link
G N Dalrd3 DALR anticodon binding domain containing 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:3,063,241...3,066,253
Ensembl chrNW_004624730:3,063,245...3,066,453
JBrowse link
G G DALRD3 DALR anticodon binding domain containing 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:10,415,833...10,419,492
Ensembl chr22:10,411,353...10,419,770
JBrowse link
G P DALRD3 DALR anticodon binding domain containing 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:31,650,880...31,656,320
Ensembl chr13:31,650,967...31,656,306
JBrowse link
G S Dalrd3 DALR anticodon binding domain containing 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:740,861...744,461
Ensembl chrNW_004936529:740,975...745,427
JBrowse link
G D DALRD3 DALR anticodon binding domain containing 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:40,145,239...40,148,731
Ensembl chr20:40,145,700...40,148,729
Ensembl chr20:40,145,700...40,148,729
JBrowse link
G B DALRD3 DALR anticodon binding domain containing 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,940,126...48,945,717
Ensembl chr 3:50,021,669...50,024,522
JBrowse link
G C Dalrd3 DALR anticodon binding domain containing 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955532:1,038,861...1,042,362
Ensembl chrNW_004955532:1,038,970...1,041,984
JBrowse link
G R Dalrd3 DALR anticodon binding domain containing 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,264,100...109,268,560
Ensembl chr 8:109,265,676...109,268,568
JBrowse link
G M Dalrd3 DALR anticodon binding domain containing 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,444,710...108,449,972
Ensembl chr 9:108,447,085...108,449,973
JBrowse link
G H DALRD3 DALR anticodon binding domain containing 3 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:49,015,488...49,021,505
Ensembl chr 3:49,015,488...49,022,293
JBrowse link
G N Dhx30 DExH-box helicase 30 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:73,656,378...73,685,863
Ensembl chrNW_004624730:73,656,361...73,681,999
JBrowse link
G G DHX30 DExH-box helicase 30 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:9,191,527...9,239,445
Ensembl chr22:9,206,175...9,239,372
JBrowse link
G P DHX30 DExH-box helicase 30 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:30,602,008...30,632,506
Ensembl chr13:30,617,376...30,632,497
JBrowse link
G S Dhx30 DExH-box helicase 30 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:1,419,165...1,454,797
Ensembl chrNW_004936596:1,421,094...1,455,356
JBrowse link
G D DHX30 DExH-box helicase 30 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:41,102,064...41,131,464
Ensembl chr20:41,102,080...41,129,429
JBrowse link
G B DHX30 DExH-box helicase 30 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:47,715,275...47,762,872
Ensembl chr 3:48,819,125...48,857,964
JBrowse link
G C Dhx30 DExH-box helicase 30 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955420:24,537,608...24,549,771
Ensembl chrNW_004955420:24,537,608...24,561,293
JBrowse link
G R Dhx30 DExH-box helicase 30 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:118,943,186...118,975,319
Ensembl chr 8:110,064,752...110,097,381
JBrowse link
G M Dhx30 DExH-box helicase 30 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:109,913,387...109,946,728
Ensembl chr 9:109,913,388...109,946,898
JBrowse link
G H DHX30 DExH-box helicase 30 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:47,803,138...47,850,193
Ensembl chr 3:47,802,909...47,850,195
JBrowse link
G N Elp6 elongator acetyltransferase complex subunit 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:73,910,843...73,923,273
Ensembl chrNW_004624730:73,910,405...73,926,844
JBrowse link
G G ELP6 elongator acetyltransferase complex subunit 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:8,899,078...8,929,072 JBrowse link
G P ELP6 elongator acetyltransferase complex subunit 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:30,329,815...30,341,952
Ensembl chr13:30,325,249...30,341,295
JBrowse link
G S Elp6 elongator acetyltransferase complex subunit 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:1,187,402...1,205,277
Ensembl chrNW_004936596:1,184,314...1,205,377
JBrowse link
G D ELP6 elongator acetyltransferase complex subunit 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:41,400,267...41,410,138
Ensembl chr20:41,400,336...41,409,632
JBrowse link
G B ELP6 elongator acetyltransferase complex subunit 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:47,392,777...47,415,830
Ensembl chr 3:48,496,874...48,515,090
JBrowse link
G C Elp6 elongator acetyltransferase complex subunit 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955420:24,795,416...24,807,790
Ensembl chrNW_004955420:24,795,496...24,811,134
JBrowse link
G R Elp6 elongator acetyltransferase complex subunit 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:119,158,380...119,173,483
Ensembl chr 8:110,279,979...110,295,067
JBrowse link
G M Elp6 elongator acetyltransferase complex subunit 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:110,133,321...110,151,170
Ensembl chr 9:110,134,241...110,151,170
JBrowse link
G H ELP6 elongator acetyltransferase complex subunit 6 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:47,495,640...47,513,712
Ensembl chr 3:47,495,640...47,513,712
JBrowse link
G G FBXW12 F-box and WD repeat domain containing 12 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:9,771,420...9,795,768
Ensembl chr22:9,772,202...9,794,123
JBrowse link
G S Fbxw12 F-box and WD repeat domain containing 12 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:156,881...175,568 JBrowse link
G D FBXW12 F-box and WD repeat domain containing 12 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:40,696,434...40,711,177
Ensembl chr20:40,696,502...40,710,720
JBrowse link
G B FBXW12 F-box and WD repeat domain containing 12 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,290,904...48,318,318 JBrowse link
G R Fbxw12 F-box and WD repeat domain containing 12 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,782,315...109,802,086
Ensembl chr 8:109,786,815...109,801,813
JBrowse link
G H FBXW12 F-box and WD repeat domain containing 12 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,372,219...48,394,725
Ensembl chr 3:48,372,219...48,401,259
JBrowse link
G M Fbxw13 F-box and WD-40 domain protein 13 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:109,008,295...109,025,043
Ensembl chr 9:109,008,295...109,025,043
JBrowse link
G N Fyco1 FYVE and coiled-coil domain autophagy adaptor 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:74,923,072...74,982,882
Ensembl chrNW_004624730:74,923,027...74,982,990
JBrowse link
G G FYCO1 FYVE and coiled-coil domain autophagy adaptor 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:7,388,796...7,466,463
Ensembl chr22:7,388,704...7,466,430
JBrowse link
G P FYCO1 FYVE and coiled-coil domain autophagy adaptor 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:29,068,107...29,146,792
Ensembl chr13:29,066,986...29,146,755
JBrowse link
G S Fyco1 FYVE and coiled-coil domain autophagy adaptor 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:3,938...81,226
Ensembl chrNW_004936596:3,720...81,257
JBrowse link
G D FYCO1 FYVE and coiled-coil domain autophagy adaptor 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:42,520,241...42,593,886
Ensembl chr20:42,525,435...42,590,243
JBrowse link
G B FYCO1 FYVE and coiled-coil domain autophagy adaptor 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:45,825,670...45,903,595
Ensembl chr 3:46,932,148...47,009,676
JBrowse link
G C Fyco1 FYVE and coiled-coil domain autophagy adaptor 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955420:26,019,621...26,076,846
Ensembl chrNW_004955420:26,019,514...26,074,492
JBrowse link
G R Fyco1 FYVE and coiled-coil domain autophagy adaptor 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:132,289,538...132,356,810
Ensembl chr 8:123,412,112...123,479,021
JBrowse link
G M Fyco1 FYVE and coiled-coil domain containing 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:123,618,565...123,681,110
Ensembl chr 9:123,618,565...123,680,964
JBrowse link
G H FYCO1 FYVE and coiled-coil domain autophagy adaptor 1 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:45,917,903...45,995,824
Ensembl chr 3:45,917,903...45,995,824
JBrowse link
G N Impdh2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:3,071,132...3,075,870
Ensembl chrNW_004624730:3,071,141...3,075,882
JBrowse link
G G IMPDH2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:10,424,646...10,429,917
Ensembl chr22:10,421,996...10,429,662
JBrowse link
G P IMPDH2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:31,658,642...31,663,660
Ensembl chr13:31,658,650...31,663,552
JBrowse link
G P IMPDH2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:31,663,812...31,714,523
Ensembl chr13:31,658,642...31,714,455
JBrowse link
G S Impdh2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:748,777...753,582
Ensembl chrNW_004936529:745,511...753,581
JBrowse link
G D IMPDH2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:40,136,106...40,140,983
Ensembl chr20:40,136,154...40,140,972
JBrowse link
G B IMPDH2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,948,965...48,954,276
Ensembl chr 3:50,030,303...50,035,676
JBrowse link
G C Impdh2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955532:1,047,138...1,051,980
Ensembl chrNW_004955532:1,045,833...1,051,978
JBrowse link
G R Impdh2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:118,135,204...118,139,892
Ensembl chr 8:109,256,728...109,261,359
JBrowse link
G M Impdh2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,437,635...108,442,776
Ensembl chr 9:108,437,485...108,442,783
JBrowse link
G H IMPDH2 inosine monophosphate dehydrogenase 2 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:49,024,325...49,029,398
Ensembl chr 3:49,024,325...49,029,447
JBrowse link
G N Ip6k2 inositol hexakisphosphate kinase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:2,697,098...2,734,198
Ensembl chrNW_004624730:2,697,098...2,734,636
JBrowse link
G G IP6K2 inositol hexakisphosphate kinase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:10,097,730...10,121,325
Ensembl chr22:10,097,746...10,121,840
JBrowse link
G P IP6K2 inositol hexakisphosphate kinase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:31,379,516...31,406,989
Ensembl chr13:31,379,521...31,406,911
JBrowse link
G S Ip6k2 inositol hexakisphosphate kinase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:487,277...515,614
Ensembl chrNW_004936529:486,879...515,674
JBrowse link
G D IP6K2 inositol hexakisphosphate kinase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:40,403,260...40,437,863
Ensembl chr20:40,427,083...40,437,804
JBrowse link
G B IP6K2 inositol hexakisphosphate kinase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,608,902...48,638,185
Ensembl chr 3:49,690,486...49,719,798
JBrowse link
G C Ip6k2 inositol hexakisphosphate kinase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955532:766,577...794,461
Ensembl chrNW_004955532:766,577...794,409
JBrowse link
G R Ip6k2 inositol hexakisphosphate kinase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:118,362,154...118,388,668
Ensembl chr 8:109,484,310...109,510,166
JBrowse link
G M Ip6k2 inositol hexaphosphate kinase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,660,928...108,683,532
Ensembl chr 9:108,660,995...108,683,536
JBrowse link
G H IP6K2 inositol hexakisphosphate kinase 2 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,688,003...48,717,221
Ensembl chr 3:48,688,003...48,740,353
JBrowse link
G N Kif9 kinesin family member 9 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:74,075,530...74,118,164
Ensembl chrNW_004624730:74,075,752...74,118,164
JBrowse link
G G KIF9 kinesin family member 9 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:8,626,636...8,685,473
Ensembl chr22:8,632,849...8,680,002
JBrowse link
G P KIF9 kinesin family member 9 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:30,014,468...30,062,871
Ensembl chr13:30,014,991...30,063,073
JBrowse link
G S Kif9 kinesin family member 9 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:952,028...1,010,889 JBrowse link
G D KIF9 kinesin family member 9 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:41,587,202...41,637,768
Ensembl chr20:41,588,443...41,637,781
JBrowse link
G B KIF9 kinesin family member 9 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:47,130,047...47,183,636
Ensembl chr 3:48,229,703...48,283,002
JBrowse link
G C Kif9 kinesin family member 9 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955420:24,968,757...25,011,642
Ensembl chrNW_004955420:24,968,759...25,011,642
JBrowse link
G R Kif9 kinesin family member 9 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:119,338,014...119,406,632
Ensembl chr 8:110,459,383...110,505,252
JBrowse link
G M Kif9 kinesin family member 9 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:110,306,062...110,354,242
Ensembl chr 9:110,306,026...110,354,247
JBrowse link
G H KIF9 kinesin family member 9 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:47,227,998...47,282,799
Ensembl chr 3:47,227,998...47,283,451
JBrowse link
G N Klhl18 kelch like family member 18 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:74,023,726...74,075,478
Ensembl chrNW_004624730:74,022,684...74,075,393
JBrowse link
G G KLHL18 kelch like family member 18 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:8,685,466...8,745,089
Ensembl chr22:8,684,945...8,745,264
JBrowse link
G P KLHL18 kelch like family member 18 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:30,063,084...30,141,513
Ensembl chr13:30,063,188...30,141,513
JBrowse link
G S Klhl18 kelch like family member 18 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:1,010,963...1,063,539
Ensembl chrNW_004936596:1,010,880...1,063,518
JBrowse link
G D KLHL18 kelch like family member 18 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:41,532,096...41,587,104
Ensembl chr20:41,533,012...41,587,003
JBrowse link
G B KLHL18 kelch like family member 18 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:47,183,587...47,247,574
Ensembl chr 3:48,282,935...48,346,165
JBrowse link
G C Klhl18 kelch like family member 18 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955420:24,917,001...24,968,712
Ensembl chrNW_004955420:24,916,597...24,968,706
JBrowse link
G R Klhl18 kelch-like family member 18 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:119,279,081...119,337,850
Ensembl chr 8:110,400,681...110,459,323
JBrowse link
G M Klhl18 kelch-like 18 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:110,254,994...110,305,768
Ensembl chr 9:110,254,994...110,305,762
JBrowse link
G H KLHL18 kelch like family member 18 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:47,282,944...47,346,816
Ensembl chr 3:47,282,917...47,346,816
JBrowse link
G N Lars2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:75,228,638...75,335,045
Ensembl chrNW_004624730:75,228,316...75,335,052
JBrowse link
G G LARS2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:6,861,105...7,021,325
Ensembl chr22:6,861,006...7,020,009
JBrowse link
G P LARS2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:28,524,778...28,692,327
Ensembl chr13:28,524,796...28,692,327
JBrowse link
G S Lars2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936695:353,965...492,014
Ensembl chrNW_004936695:350,975...492,011
JBrowse link
G D LARS2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:42,891,823...43,080,987
Ensembl chr20:42,892,801...43,081,197
JBrowse link
G B LARS2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:45,296,129...45,455,836
Ensembl chr 3:46,405,636...46,564,994
JBrowse link
G C Lars2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955420:26,342,129...26,446,959
Ensembl chrNW_004955420:26,343,649...26,441,736
JBrowse link
G R Lars2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:131,887,728...131,983,866
Ensembl chr 8:123,010,293...123,106,395
JBrowse link
G M Lars2 leucyl-tRNA synthetase, mitochondrial ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:123,196,001...123,291,731
Ensembl chr 9:123,195,992...123,291,731
JBrowse link
G H LARS2 leucyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:45,388,576...45,549,407
Ensembl chr 3:45,388,561...45,554,726
JBrowse link
G N Limd1 LIM domain containing 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:75,176,978...75,218,606
Ensembl chrNW_004624730:75,176,717...75,219,314
JBrowse link
G G LIMD1 LIM domain containing 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:7,065,666...7,151,607
Ensembl chr22:7,065,698...7,147,420
JBrowse link
G P LIMD1 LIM domain containing 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:28,730,192...28,811,584
Ensembl chr13:28,730,278...28,811,615
JBrowse link
G S Limd1 LIM domain containing 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936695:260,586...314,521
Ensembl chrNW_004936695:259,209...314,535
JBrowse link
G D LIMD1 LIM domain containing 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:42,797,316...42,867,292
Ensembl chr20:42,799,142...42,867,428
JBrowse link
G B LIMD1 LIM domain containing 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:45,500,413...45,587,850
Ensembl chr 3:46,610,315...46,695,406
JBrowse link
G C Limd1 LIM domain containing 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955420:26,290,792...26,328,637
Ensembl chrNW_004955420:26,291,529...26,328,637
JBrowse link
G R Limd1 LIM domain containing 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:131,998,262...132,045,924
Ensembl chr 8:123,122,460...123,167,714
JBrowse link
G M Limd1 LIM domains containing 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:123,306,790...123,350,617
Ensembl chr 9:123,307,771...123,350,617
JBrowse link
G H LIMD1 LIM domain containing 1 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:45,594,751...45,686,341
Ensembl chr 3:45,555,394...45,686,341
JBrowse link
G P LOC100521518 uncharacterized LOC100521518 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:31,153,614...31,156,339
Ensembl chr13:31,153,629...31,156,339
JBrowse link
G P LOC100739218 double-headed protease inhibitor, submandibular gland-like ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 2:149,400,864...149,406,484 JBrowse link
G B LOC100977575 cytochrome b-c1 complex subunit 1, mitochondrial ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,520,870...48,531,947
Ensembl chr 3:49,602,770...49,613,717
JBrowse link
G N LOC101719627 cytochrome b-c1 complex subunit 1, mitochondrial ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:2,603,301...2,613,105
Ensembl chrNW_004624730:2,603,089...2,613,828
JBrowse link
G N LOC101724812 C-C chemokine receptor type 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:74,822,848...74,828,614
Ensembl chrNW_004624730:74,826,659...74,827,726
JBrowse link
G S LOC101956274 cytochrome b-c1 complex subunit 1, mitochondrial ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:385,942...396,196
Ensembl chrNW_004936529:385,851...396,230
JBrowse link
G S LOC101964209 C-C chemokine receptor type 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:177,774...183,186
Ensembl chrNW_004936596:177,812...183,186
JBrowse link
G C LOC102005965 cytochrome b-c1 complex subunit 1, mitochondrial ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955532:685,315...691,286
Ensembl chrNW_004955532:685,395...696,554
JBrowse link
G G LOC103227551 serine protease 50 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:8,135,011...8,142,455
Ensembl chr22:8,135,046...8,140,809
JBrowse link
G G LOC103227611 ARIH2 opposite strand lncRNA ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:10,318,252...10,319,365 JBrowse link
G G LOC103227881 translation machinery-associated protein 7 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:30,955,816...30,956,320 JBrowse link
G B LOC103786080 ARIH2 opposite strand lncRNA ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,843,126...48,845,424
Ensembl chr 3:49,925,886...49,926,758
JBrowse link
G S LOC110599066 translation machinery-associated protein 7 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936624:659,521...659,879 JBrowse link
G H LOC129936736 ATAC-STARR-seq lymphoblastoid active region 19853 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:9536098 PMID:17576681 PMID:24656866 PMID:25471517 PMID:25741868 More... NCBI chr 3:49,104,529...49,104,718 JBrowse link
G N Lrrc2 leucine rich repeat containing 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:74,564,889...74,594,276
Ensembl chrNW_004624730:74,564,923...74,592,337
JBrowse link
G G LRRC2 leucine rich repeat containing 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:7,937,167...7,987,249
Ensembl chr22:7,934,217...7,986,666
JBrowse link
G P LRRC2 leucine rich repeat containing 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:29,477,790...29,524,177
Ensembl chr13:29,478,114...29,536,539
JBrowse link
G S Lrrc2 leucine rich repeat containing 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:420,678...440,937
Ensembl chrNW_004936596:420,567...441,090
JBrowse link
G D LRRC2 leucine rich repeat containing 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:42,156,097...42,193,523
Ensembl chr20:42,156,154...42,191,681
JBrowse link
G B LRRC2 leucine rich repeat containing 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,413,776...46,463,131
Ensembl chr 3:47,518,600...47,567,020
JBrowse link
G C Lrrc2 leucine rich repeat containing 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955420:25,492,277...25,528,530
Ensembl chrNW_004955420:25,491,010...25,528,530
JBrowse link
G R Lrrc2 leucine rich repeat containing 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:110,936,119...110,969,189
Ensembl chr 8:110,938,165...110,969,185
JBrowse link
G M Lrrc2 leucine rich repeat containing 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:110,780,613...110,813,134
Ensembl chr 9:110,780,613...110,813,134
JBrowse link
G H LRRC2 leucine rich repeat containing 2 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,515,385...46,566,302
Ensembl chr 3:46,515,385...46,606,948
JBrowse link
G N Ltf lactotransferrin ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:74,636,554...74,656,817
Ensembl chrNW_004624730:74,636,522...74,656,886
JBrowse link
G G LTF lactotransferrin ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:7,867,332...7,896,403
Ensembl chr22:7,867,286...7,894,521
JBrowse link
G P LTF lactotransferrin ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:29,413,886...29,445,751
Ensembl chr13:29,413,886...29,445,739
JBrowse link
G S Ltf lactotransferrin ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:344,287...373,788
Ensembl chrNW_004936596:344,274...373,952
JBrowse link
G D LTF lactotransferrin ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:42,231,994...42,263,202
Ensembl chr20:42,231,994...42,263,202
JBrowse link
G B LTF lactotransferrin ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,337,738...46,367,476
Ensembl chr 3:47,442,440...47,471,532
JBrowse link
G C Ltf lactotransferrin ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955420:25,580,449...25,604,277
Ensembl chrNW_004955420:25,580,359...25,604,331
JBrowse link
G R Ltf lactotransferrin ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:119,878,344...119,901,189
Ensembl chr 8:110,999,948...111,022,795
JBrowse link
G M Ltf lactotransferrin ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:110,848,360...110,871,834
Ensembl chr 9:110,848,339...110,871,835
JBrowse link
G H LTF lactotransferrin IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,435,645...46,485,234
Ensembl chr 3:46,435,645...46,485,234
JBrowse link
G N Lztfl1 leucine zipper transcription factor like 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:75,041,943...75,069,972
Ensembl chrNW_004624730:75,041,790...75,071,728
JBrowse link
G G LZTFL1 leucine zipper transcription factor like 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:7,292,390...7,310,355
Ensembl chr22:7,294,733...7,307,687
JBrowse link
G P LZTFL1 leucine zipper transcription factor like 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:28,975,202...29,005,245
Ensembl chr13:28,977,503...29,005,445
JBrowse link
G S Lztfl1 leucine zipper transcription factor like 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936695:106,216...118,408
Ensembl chrNW_004936695:106,175...121,606
JBrowse link
G D LZTFL1 leucine zipper transcription factor like 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:42,651,762...42,666,426
Ensembl chr20:42,651,802...42,666,417
JBrowse link
G B LZTFL1 leucine zipper transcription factor like 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:45,733,361...45,823,810
Ensembl chr 3:46,840,037...46,929,864
JBrowse link
G C Lztfl1 leucine zipper transcription factor like 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955420:26,130,432...26,145,516
Ensembl chrNW_004955420:26,130,434...26,146,955
JBrowse link
G R Lztfl1 leucine zipper transcription factor-like 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:132,222,339...132,237,757
Ensembl chr 8:123,344,925...123,360,192
JBrowse link
G M Lztfl1 leucine zipper transcription factor-like 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:123,523,469...123,546,690
Ensembl chr 9:123,523,481...123,546,762
JBrowse link
G H LZTFL1 leucine zipper transcription factor like 1 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:45,823,316...45,915,724
Ensembl chr 3:45,823,316...45,916,042
JBrowse link
G N Map4 microtubule associated protein 4 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:73,490,974...73,656,097 JBrowse link
G G MAP4 microtubule associated protein 4 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:9,239,983...9,461,438
Ensembl chr22:9,242,309...9,394,713
JBrowse link
G P MAP4 microtubule associated protein 4 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:30,633,049...30,805,183
Ensembl chr13:30,633,054...30,804,761
JBrowse link
G S Map4 microtubule associated protein 4 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:1,455,705...1,546,007 JBrowse link
G D MAP4 microtubule associated protein 4 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:40,896,920...41,101,626
Ensembl chr20:40,896,772...41,100,001
JBrowse link
G B MAP4 microtubule associated protein 4 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:47,763,379...47,995,457
Ensembl chr 3:48,858,544...49,020,950
JBrowse link
G C Map4 microtubule associated protein 4 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955420:24,437,492...24,537,410 JBrowse link
G R Map4 microtubule-associated protein 4 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:118,800,393...118,942,805
Ensembl chr 8:109,925,575...110,064,362
JBrowse link
G M Map4 microtubule-associated protein 4 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:109,758,909...109,913,018
Ensembl chr 9:109,760,528...109,913,023
JBrowse link
G H MAP4 microtubule associated protein 4 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:47,850,695...48,088,848
Ensembl chr 3:47,850,690...48,089,272
JBrowse link
G P MIR191 microRNA mir-191 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:31,655,484...31,655,563
Ensembl chr13:31,655,484...31,655,563
JBrowse link
G D MIR191 microRNA mir-191 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:40,144,135...40,144,198
Ensembl chr20:40,144,121...40,144,210
JBrowse link
G R Mir191 microRNA 191 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:118,142,627...118,142,717 JBrowse link
G M Mir191 microRNA 191 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,445,518...108,445,591
Ensembl chr 9:108,445,518...108,445,591
JBrowse link
G H MIR191 microRNA 191 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:49,020,618...49,020,709
Ensembl chr 3:49,020,618...49,020,709
JBrowse link
G H MIR6890 microRNA 6890 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:49,099,854...49,099,914
Ensembl chr 3:49,099,854...49,099,914
JBrowse link
G N Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:74,405,054...74,408,567
Ensembl chrNW_004624730:74,404,915...74,408,752
JBrowse link
G G MYL3 myosin light chain 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:8,263,536...8,272,229
Ensembl chr22:8,261,206...8,269,185
JBrowse link
G P MYL3 myosin light chain 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:29,730,271...29,735,616
Ensembl chr13:29,707,371...29,735,586
JBrowse link
G S Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:649,887...655,110
Ensembl chrNW_004936596:649,875...655,110
JBrowse link
G D MYL3 myosin light chain 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:41,941,617...41,947,085
Ensembl chr20:41,933,105...42,073,779
JBrowse link
G B MYL3 myosin light chain 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,758,058...46,782,425
Ensembl chr 3:47,859,467...47,865,084
JBrowse link
G C Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955420:25,308,513...25,311,959
Ensembl chrNW_004955420:25,305,759...25,312,271
JBrowse link
G R Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:119,617,077...119,623,215
Ensembl chr 8:110,738,661...110,744,816
JBrowse link
G M Myl3 myosin, light polypeptide 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:110,592,746...110,598,870
Ensembl chr 9:110,570,929...110,598,866
JBrowse link
G H MYL3 myosin light chain 3 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,857,872...46,882,182
Ensembl chr 3:46,835,110...46,882,178
JBrowse link
G N Nbeal2 neurobeachin like 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:74,283,938...74,310,340
Ensembl chrNW_004624730:74,284,240...74,310,201
JBrowse link
G G NBEAL2 neurobeachin like 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:8,385,109...8,414,553
Ensembl chr22:8,385,229...8,414,655
JBrowse link
G P NBEAL2 neurobeachin like 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:29,847,406...29,881,904
Ensembl chr13:29,855,182...29,878,286
JBrowse link
G S Nbeal2 neurobeachin like 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:758,495...789,252
Ensembl chrNW_004936596:758,495...789,168
JBrowse link
G D NBEAL2 neurobeachin like 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:41,806,903...41,836,286
Ensembl chr20:41,803,702...41,827,587
JBrowse link
G B NBEAL2 neurobeachin like 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,879,867...46,909,901
Ensembl chr 3:47,987,142...48,010,766
JBrowse link
G C Nbeal2 neurobeachin like 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955420:25,184,574...25,204,870
Ensembl chrNW_004955420:25,184,198...25,205,442
JBrowse link
G R Nbeal2 neurobeachin-like 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:119,481,608...119,511,997
Ensembl chr 8:110,599,389...110,633,707
JBrowse link
G M Nbeal2 neurobeachin-like 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:110,453,857...110,483,229
Ensembl chr 9:110,453,857...110,483,229
JBrowse link
G H NBEAL2 neurobeachin like 2 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,979,666...47,009,701
Ensembl chr 3:46,979,666...47,009,704
JBrowse link
G N Nckipsd NCK interacting protein with SH3 domain ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:2,685,256...2,695,387
Ensembl chrNW_004624730:2,684,762...2,695,705
JBrowse link
G G NCKIPSD NCK interacting protein with SH3 domain ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:10,083,042...10,095,654
Ensembl chr22:10,081,218...10,095,566
JBrowse link
G P NCKIPSD NCK interacting protein with SH3 domain ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:31,366,574...31,377,684
Ensembl chr13:31,363,765...31,377,672
JBrowse link
G S Nckipsd NCK interacting protein with SH3 domain ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:474,978...485,333
Ensembl chrNW_004936529:471,913...485,389
JBrowse link
G D NCKIPSD NCK interacting protein with SH3 domain ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:40,443,245...40,449,859
Ensembl chr20:40,442,386...40,449,542
JBrowse link
G B NCKIPSD NCK interacting protein with SH3 domain ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,586,112...48,606,811
Ensembl chr 3:49,676,282...49,688,548
JBrowse link
G C Nckipsd NCK interacting protein with SH3 domain ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955532:755,997...766,202
Ensembl chrNW_004955532:755,997...764,855
JBrowse link
G R Nckipsd NCK interacting protein with SH3 domain ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,511,484...109,522,622
Ensembl chr 8:109,511,658...109,522,246
JBrowse link
G M Nckipsd NCK interacting protein with SH3 domain ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,685,515...108,696,044
Ensembl chr 9:108,685,567...108,696,043
JBrowse link
G H NCKIPSD NCK interacting protein with SH3 domain IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,673,844...48,685,915
Ensembl chr 3:48,673,844...48,686,364
JBrowse link
G N Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:3,069,083...3,070,675
Ensembl chrNW_004624730:3,069,115...3,070,675
JBrowse link
G G NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:10,421,359...10,423,626
Ensembl chr22:10,421,996...10,423,510
JBrowse link
G P NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:31,656,941...31,658,087
Ensembl chr13:31,656,948...31,659,220
JBrowse link
G S Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:746,620...748,145
Ensembl chrNW_004936529:747,021...748,695
JBrowse link
G D NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:40,141,550...40,143,207
Ensembl chr20:40,141,552...40,172,553
JBrowse link
G B NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,945,667...48,947,933
Ensembl chr 3:50,026,989...50,029,260
JBrowse link
G C Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955532:1,045,854...1,046,738
Ensembl chrNW_004955532:1,045,852...1,046,594
JBrowse link
G R Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,261,362...109,263,194
Ensembl chr 8:109,261,363...109,263,194
JBrowse link
G M Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,442,786...108,444,635
Ensembl chr 9:108,442,736...108,444,633
JBrowse link
G H NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:49,020,452...49,023,495
Ensembl chr 3:49,020,459...49,023,495
JBrowse link
G N Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:73,414,124...73,421,161
Ensembl chrNW_004624730:73,414,798...73,419,261
JBrowse link
G G NME6 NME/NM23 nucleoside diphosphate kinase 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:9,685,583...9,692,993
Ensembl chr22:9,681,953...9,692,172
JBrowse link
G P NME6 NME/NM23 nucleoside diphosphate kinase 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:31,048,367...31,053,285
Ensembl chr13:31,046,948...31,053,130
JBrowse link
G S Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:88,929...96,207
Ensembl chrNW_004936529:88,949...96,236
JBrowse link
G D NME6 NME/NM23 nucleoside diphosphate kinase 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:40,769,394...40,778,802
Ensembl chr20:40,769,501...40,776,496
JBrowse link
G B NME6 NME/NM23 nucleoside diphosphate kinase 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,206,365...48,217,618
Ensembl chr 3:49,290,069...49,299,831
JBrowse link
G C Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955420:24,301,079...24,306,370
Ensembl chrNW_004955420:24,301,081...24,306,493
JBrowse link
G R Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:118,708,092...118,717,756
Ensembl chr 8:109,832,589...109,839,301
JBrowse link
G M Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:109,661,830...109,672,042
Ensembl chr 9:109,661,817...109,672,184
JBrowse link
G H NME6 NME/NM23 nucleoside diphosphate kinase 6 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,288,402...48,301,367
Ensembl chr 3:48,290,722...48,301,685
JBrowse link
G P NPG4 protegrin 4 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:30,932,411...30,934,626
Ensembl chr13:30,932,232...30,987,873
JBrowse link
G N P4htm prolyl 4-hydroxylase, transmembrane ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:3,042,699...3,056,632
Ensembl chrNW_004624730:3,043,222...3,056,645
JBrowse link
G G P4HTM prolyl 4-hydroxylase, transmembrane ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:10,387,828...10,407,476
Ensembl chr22:10,388,932...10,407,507
JBrowse link
G P P4HTM prolyl 4-hydroxylase, transmembrane ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:31,627,230...31,642,251
Ensembl chr13:31,627,225...31,642,399
JBrowse link
G S P4htm prolyl 4-hydroxylase, transmembrane ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:716,407...732,010
Ensembl chrNW_004936529:716,433...731,795
JBrowse link
G D P4HTM prolyl 4-hydroxylase, transmembrane ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:40,157,952...40,172,624
Ensembl chr20:40,157,952...40,172,599
JBrowse link
G B P4HTM prolyl 4-hydroxylase, transmembrane ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,914,547...48,931,723
Ensembl chr 3:49,993,219...50,013,272
JBrowse link
G C P4htm prolyl 4-hydroxylase, transmembrane ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955532:1,015,259...1,029,749
Ensembl chrNW_004955532:1,015,259...1,029,749
JBrowse link
G R P4htm prolyl 4-hydroxylase, transmembrane ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:118,153,158...118,172,199
Ensembl chr 8:109,274,626...109,292,473
JBrowse link
G M P4htm prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,456,025...108,475,482
Ensembl chr 9:108,456,061...108,474,866
JBrowse link
G H P4HTM prolyl 4-hydroxylase, transmembrane IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,989,908...49,007,153
Ensembl chr 3:48,989,889...49,007,153
JBrowse link
G N Pfkfb4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:2,519,661...2,566,664
Ensembl chrNW_004624730:2,519,678...2,563,059
JBrowse link
G G PFKFB4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:9,920,252...9,962,243
Ensembl chr22:9,919,764...9,957,543
JBrowse link
G P PFKFB4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:31,212,553...31,259,785
Ensembl chr13:31,212,552...31,259,749
JBrowse link
G S Pfkfb4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:304,090...346,281
Ensembl chrNW_004936529:303,843...342,935
JBrowse link
G D PFKFB4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:40,556,548...40,587,036
Ensembl chr20:40,556,790...40,585,652
JBrowse link
G B PFKFB4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,439,542...48,479,501
Ensembl chr 3:49,521,550...49,560,711
JBrowse link
G C Pfkfb4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955532:606,597...644,238
Ensembl chrNW_004955532:606,643...644,027
JBrowse link
G R Pfkfb4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:118,522,371...118,565,478
Ensembl chr 8:109,643,937...109,685,634
JBrowse link
G M Pfkfb4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,817,336...108,861,302
Ensembl chr 9:108,820,846...108,861,296
JBrowse link
G H PFKFB4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,517,684...48,563,136
Ensembl chr 3:48,517,684...48,562,015
JBrowse link
G N Plxnb1 plexin B1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:2,368,329...2,396,284
Ensembl chrNW_004624730:2,371,147...2,391,308
JBrowse link
G G PLXNB1 plexin B1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:9,805,358...9,833,102
Ensembl chr22:9,806,907...9,827,640
JBrowse link
G P PLXNB1 plexin B1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:31,113,910...31,140,133
Ensembl chr13:31,113,914...31,140,220
JBrowse link
G S Plxnb1 plexin B1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:197,834...226,064
Ensembl chrNW_004936529:200,210...221,227
JBrowse link
G D PLXNB1 plexin B1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:40,658,938...40,685,219
Ensembl chr20:40,661,772...40,684,265
JBrowse link
G B PLXNB1 plexin B1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,325,892...48,352,128
Ensembl chr 3:49,408,666...49,434,913
JBrowse link
G C Plxnb1 plexin B1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955532:471,652...499,525
Ensembl chrNW_004955532:474,354...494,527
JBrowse link
G R Plxnb1 plexin B1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:118,621,961...118,647,491
Ensembl chr 8:109,744,697...109,769,027
JBrowse link
G M Plxnb1 plexin B1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,922,915...108,948,983
Ensembl chr 9:108,924,457...108,948,985
JBrowse link
G H PLXNB1 plexin B1 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,403,854...48,430,310
Ensembl chr 3:48,403,854...48,430,086
JBrowse link
G N Prkar2a protein kinase cAMP-dependent type II regulatory subunit alpha ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:2,743,921...2,807,270 JBrowse link
G G PRKAR2A protein kinase cAMP-dependent type II regulatory subunit alpha ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:10,153,951...10,251,438
Ensembl chr22:10,150,378...10,251,397
JBrowse link
G P PRKAR2A protein kinase cAMP-dependent type II regulatory subunit alpha ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:31,427,786...31,517,005
Ensembl chr13:31,426,213...31,517,122
JBrowse link
G S Prkar2a protein kinase cAMP-dependent type II regulatory subunit alpha ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:528,138...601,078
Ensembl chrNW_004936529:528,114...601,122
JBrowse link
G D PRKAR2A protein kinase cAMP-dependent type II regulatory subunit alpha ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:40,277,655...40,388,156
Ensembl chr20:40,277,906...40,384,633
JBrowse link
G B PRKAR2A protein kinase cAMP-dependent type II regulatory subunit alpha ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,665,421...48,774,111
Ensembl chr 3:49,747,611...49,854,382
JBrowse link
G C Prkar2a protein kinase cAMP-dependent type II regulatory subunit alpha ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955532:827,112...896,487
Ensembl chrNW_004955532:827,418...852,845
JBrowse link
G R Prkar2a protein kinase cAMP-dependent type II regulatory subunit alpha ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:118,271,608...118,337,332
Ensembl chr 8:109,395,833...109,455,628
JBrowse link
G M Prkar2a protein kinase, cAMP dependent regulatory, type II alpha ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,569,342...108,627,643
Ensembl chr 9:108,566,513...108,627,635
JBrowse link
G H PRKAR2A protein kinase cAMP-dependent type II regulatory subunit alpha IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,744,591...48,847,874
Ensembl chr 3:48,744,597...48,847,874
JBrowse link
G N Prss50 serine protease 50 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:74,494,152...74,497,473 JBrowse link
G P PRSS50 serine protease 50 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:29,633,575...29,638,994
Ensembl chr13:29,632,886...29,639,045
JBrowse link
G S Prss50 serine protease 50 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:541,918...544,866
Ensembl chrNW_004936596:541,918...546,364
JBrowse link
G D PRSS50 serine protease 50 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:42,046,177...42,051,517 JBrowse link
G B PRSS50 serine protease 50 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,610,119...46,616,435
Ensembl chr 3:47,713,699...47,719,315
JBrowse link
G C Prss50 serine protease 50 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955420:25,424,082...25,427,705 JBrowse link
G R Prss50 serine protease 50 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:119,719,574...119,727,269
Ensembl chr 8:110,842,671...110,848,802
JBrowse link
G M Prss50 serine protease 50 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:110,687,032...110,693,697
Ensembl chr 9:110,687,035...110,693,697
JBrowse link
G H PRSS50 serine protease 50 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,712,117...46,717,869
Ensembl chr 3:46,712,117...46,717,869
JBrowse link
G N Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:74,371,614...74,392,344
Ensembl chrNW_004624730:74,371,294...74,390,262
JBrowse link
G G PTH1R parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:8,287,877...8,309,736
Ensembl chr22:8,289,398...8,311,256
JBrowse link
G P PTH1R parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:29,749,940...29,775,361
Ensembl chr13:29,753,326...29,775,348
JBrowse link
G S Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:674,088...693,191
Ensembl chrNW_004936596:674,088...693,213
JBrowse link
G D PTH1R parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:41,905,265...41,924,712
Ensembl chr20:41,905,273...41,925,794
JBrowse link
G B PTH1R parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,777,945...46,804,039
Ensembl chr 3:47,894,901...47,905,431
JBrowse link
G C Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955420:25,274,269...25,291,984
Ensembl chrNW_004955420:25,273,431...25,296,471
JBrowse link
G R Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:119,572,295...119,597,405
Ensembl chr 8:110,697,485...110,719,729
JBrowse link
G M Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:110,551,132...110,576,213
Ensembl chr 9:110,551,153...110,576,213
JBrowse link
G H PTH1R parathyroid hormone 1 receptor IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799
JBrowse link
G N Ptpn23 protein tyrosine phosphatase non-receptor type 23 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:73,975,490...74,004,454
Ensembl chrNW_004624730:73,975,655...74,004,572
JBrowse link
G G PTPN23 protein tyrosine phosphatase non-receptor type 23 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:8,788,927...8,821,566
Ensembl chr22:8,788,961...8,821,316
JBrowse link
G P PTPN23 protein tyrosine phosphatase non-receptor type 23 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:30,190,659...30,252,980
Ensembl chr13:30,190,755...30,253,113
JBrowse link
G S Ptpn23 protein tyrosine phosphatase non-receptor type 23 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:1,094,285...1,124,483
Ensembl chrNW_004936596:1,094,205...1,124,712
JBrowse link
G D PTPN23 protein tyrosine phosphatase non-receptor type 23 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:41,485,959...41,511,250
Ensembl chr20:41,485,195...41,587,003
JBrowse link
G B PTPN23 protein tyrosine phosphatase non-receptor type 23 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:47,280,706...47,314,268
Ensembl chr 3:48,379,810...48,413,488
JBrowse link
G C Ptpn23 protein tyrosine phosphatase non-receptor type 23 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955420:24,869,737...24,897,196
Ensembl chrNW_004955420:24,869,894...24,897,102
JBrowse link
G R Ptpn23 protein tyrosine phosphatase, non-receptor type 23 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:119,239,213...119,261,675
Ensembl chr 8:110,360,804...110,383,271
JBrowse link
G M Ptpn23 protein tyrosine phosphatase, non-receptor type 23 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:110,214,152...110,237,278
Ensembl chr 9:110,214,150...110,237,281
JBrowse link
G H PTPN23 protein tyrosine phosphatase non-receptor type 23 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:47,381,021...47,413,435
Ensembl chr 3:47,381,011...47,413,435
JBrowse link
G N Qars1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24656866 PMID:25432320 More... NCBI chrNW_004624730:3,123,877...3,130,787
Ensembl chrNW_004624730:3,120,958...3,130,757
JBrowse link
G G QARS1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24656866 PMID:25432320 More... NCBI chr22:10,497,921...10,507,673
Ensembl chr22:10,497,658...10,507,325
JBrowse link
G P QARS1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24656866 PMID:25432320 More... NCBI chr13:31,715,686...31,723,200
Ensembl chr13:31,715,689...31,723,197
JBrowse link
G S Qars1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24656866 PMID:25432320 More... NCBI chrNW_004936529:802,753...810,270
Ensembl chrNW_004936529:802,759...810,265
JBrowse link
G D QARS1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24656866 PMID:25432320 More... NCBI chr20:40,077,856...40,085,100
Ensembl chr20:40,078,163...40,085,099
JBrowse link
G B QARS1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24656866 PMID:25432320 More... NCBI chr 3:49,020,310...49,029,443
Ensembl chr 3:50,100,216...50,125,112
JBrowse link
G C Qars1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24656866 PMID:25432320 More... NCBI chrNW_004955532:1,093,444...1,100,591
Ensembl chrNW_004955532:1,092,125...1,100,603
JBrowse link
G R Qars1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24656866 PMID:25432320 More... NCBI chr 8:118,086,243...118,094,274
Ensembl chr 8:109,207,705...109,215,739
JBrowse link
G M Qars1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24656866 PMID:25432320 More... NCBI chr 9:108,385,204...108,393,140
Ensembl chr 9:108,384,905...108,393,140
JBrowse link
G H QARS1 glutaminyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24656866 PMID:25432320 More... NCBI chr 3:49,095,932...49,104,757
Ensembl chr 3:49,095,932...49,105,130
JBrowse link
G N Qrich1 glutamine rich 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:3,076,106...3,123,002 JBrowse link
G G QRICH1 glutamine rich 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:10,430,015...10,496,127
Ensembl chr22:10,430,774...10,478,690
JBrowse link
G S Qrich1 glutamine rich 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:753,842...802,405
Ensembl chrNW_004936529:753,844...801,861
JBrowse link
G D QRICH1 glutamine rich 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:40,086,141...40,135,810
Ensembl chr20:40,097,149...40,135,140
JBrowse link
G B QRICH1 glutamine rich 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,954,345...49,018,745
Ensembl chr 3:50,035,676...50,097,596
JBrowse link
G C Qrich1 glutamine rich 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955532:1,052,174...1,092,211
Ensembl chrNW_004955532:1,052,174...1,091,449
JBrowse link
G R Qrich1 glutamine-rich 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,216,900...109,256,472
Ensembl chr 8:109,217,376...109,261,359
JBrowse link
G M Qrich1 glutamine-rich 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,394,010...108,437,366
Ensembl chr 9:108,394,005...108,437,362
JBrowse link
G H QRICH1 glutamine rich 1 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:49,029,707...49,094,373
Ensembl chr 3:49,029,707...49,094,363
JBrowse link
G N Rtp3 receptor transporter protein 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:74,605,692...74,609,946 JBrowse link
G G RTP3 receptor transporter protein 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:7,925,733...7,930,132
Ensembl chr22:7,926,804...7,931,187
JBrowse link
G P RTP3 receptor transporter protein 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:29,471,568...29,476,277 JBrowse link
G S Rtp3 receptor transporter protein 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:392,885...408,892 JBrowse link
G D RTP3 receptor transporter protein 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:42,197,170...42,202,569
Ensembl chr20:42,197,409...42,202,543
JBrowse link
G B RTP3 receptor transporter protein 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,397,231...46,400,221
Ensembl chr 3:47,502,087...47,505,062
JBrowse link
G C Rtp3 receptor transporter protein 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955420:25,545,752...25,550,044 JBrowse link
G R Rtp3 receptor (chemosensory) transporter protein 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:119,847,947...119,853,549
Ensembl chr 8:110,970,160...110,974,699
JBrowse link
G M Rtp3 receptor transporter protein 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:110,814,003...110,818,781
Ensembl chr 9:110,814,003...110,819,651
JBrowse link
G H RTP3 receptor transporter protein 3 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,497,976...46,500,950
Ensembl chr 3:46,494,611...46,500,950
JBrowse link
G N Sacm1l SAC1 like phosphatidylinositide phosphatase ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:75,107,294...75,169,527
Ensembl chrNW_004624730:75,113,012...75,169,561
JBrowse link
G G SACM1L SAC1 like phosphatidylinositide phosphatase ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:7,159,701...7,214,368
Ensembl chr22:7,159,809...7,214,555
JBrowse link
G P SACM1L SAC1 like phosphatidylinositide phosphatase ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:28,816,977...28,906,503
Ensembl chr13:28,817,132...28,891,685
JBrowse link
G S Sacm1l SAC1 like phosphatidylinositide phosphatase ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936695:196,238...253,128 JBrowse link
G D SACM1L SAC1 like phosphatidylinositide phosphatase ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:42,731,674...42,791,455
Ensembl chr20:42,720,249...42,791,402
JBrowse link
G B SACM1L SAC1 like phosphatidylinositide phosphatase ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:45,596,775...45,652,482
Ensembl chr 3:46,704,565...46,760,104
JBrowse link
G C Sacm1l SAC1 like phosphatidylinositide phosphatase ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955420:26,231,597...26,280,516
Ensembl chrNW_004955420:26,229,840...26,280,516
JBrowse link
G R Sacm1l SAC1 like phosphatidylinositide phosphatase ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:123,176,017...123,232,413
Ensembl chr 8:123,172,536...123,232,413
JBrowse link
G M Sacm1l SAC1 suppressor of actin mutations 1-like (yeast) ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:123,358,818...123,421,665
Ensembl chr 9:123,358,824...123,421,665
JBrowse link
G H SACM1L SAC1 like phosphatidylinositide phosphatase IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:45,689,396...45,745,409
Ensembl chr 3:45,689,056...45,745,412
JBrowse link
G N Scap SREBF chaperone ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:73,926,978...73,975,337
Ensembl chrNW_004624730:73,927,010...73,975,337
JBrowse link
G G SCAP SREBF chaperone ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:8,821,809...8,887,538
Ensembl chr22:8,818,980...8,850,202
JBrowse link
G P SCAP SREBF chaperone ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:30,253,262...30,320,625
Ensembl chr13:30,253,268...30,320,526
JBrowse link
G S Scap SREBF chaperone ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:1,124,573...1,180,219
Ensembl chrNW_004936596:1,122,042...1,180,297
JBrowse link
G D SCAP SREBF chaperone ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:41,418,507...41,485,681
Ensembl chr20:41,418,536...41,487,024
JBrowse link
G B SCAP SREBF chaperone ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:47,314,535...47,379,455
Ensembl chr 3:48,414,012...48,479,845
JBrowse link
G C Scap SREBF chaperone ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955420:24,813,683...24,869,602
Ensembl chrNW_004955420:24,813,534...24,869,480
JBrowse link
G R Scap SREBF chaperone ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:119,184,366...119,239,086
Ensembl chr 8:110,306,031...110,360,666
JBrowse link
G M Scap SREBF chaperone ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:110,162,356...110,214,017
Ensembl chr 9:110,162,356...110,214,018
JBrowse link
G H SCAP SREBF chaperone IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:47,413,681...47,477,127
Ensembl chr 3:47,413,681...47,477,126
JBrowse link
G N Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:74,187,981...74,277,857
Ensembl chrNW_004624730:74,187,995...74,277,200
JBrowse link
G G SETD2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:8,421,178...8,567,221
Ensembl chr22:8,420,960...8,567,201
JBrowse link
G P SETD2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:29,884,708...29,996,285
Ensembl chr13:29,884,719...29,996,359
JBrowse link
G S Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:795,940...898,823
Ensembl chrNW_004936596:796,601...883,373
JBrowse link
G D SETD2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:41,675,539...41,800,697
Ensembl chr20:41,675,599...41,800,612
JBrowse link
G B SETD2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,916,615...47,064,046
Ensembl chr 3:48,018,517...48,163,999
JBrowse link
G C Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955420:25,070,626...25,178,410
Ensembl chrNW_004955420:25,090,798...25,177,760
JBrowse link
G R Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:119,390,207...119,475,863
Ensembl chr 8:110,511,772...110,597,489
JBrowse link
G M Setd2 SET domain containing 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:110,361,368...110,447,703
Ensembl chr 9:110,358,262...110,447,701
JBrowse link
G H SETD2 SET domain containing 2, histone lysine methyltransferase IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113
JBrowse link
G N Shisa5 shisa family member 5 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:2,416,486...2,448,836
Ensembl chrNW_004624730:2,413,014...2,449,065
JBrowse link
G G SHISA5 shisa family member 5 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:9,871,882...9,905,733
Ensembl chr22:9,873,019...9,905,308
JBrowse link
G P SHISA5 shisa family member 5 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:31,180,844...31,205,724
Ensembl chr13:31,180,846...31,205,731
JBrowse link
G S Shisa5 shisa family member 5 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:266,671...292,103
Ensembl chrNW_004936529:266,456...269,732
JBrowse link
G D SHISA5 shisa family member 5 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:40,604,183...40,624,607
Ensembl chr20:40,601,626...40,623,601
JBrowse link
G B SHISA5 shisa family member 5 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,389,924...48,426,064
Ensembl chr 3:49,471,604...49,508,840
JBrowse link
G C Shisa5 shisa family member 5 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955532:535,992...544,542 JBrowse link
G R Shisa5 shisa family member 5 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:118,569,975...118,584,880
Ensembl chr 8:109,691,522...109,706,408
JBrowse link
G M Shisa5 shisa family member 5 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,867,635...108,886,860
Ensembl chr 9:108,867,633...108,886,845
JBrowse link
G H SHISA5 shisa family member 5 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,467,876...48,504,810
Ensembl chr 3:48,467,798...48,504,826
JBrowse link
G N Slc25a20 solute carrier family 25 member 20 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:2,833,785...2,860,711
Ensembl chrNW_004624730:2,832,233...2,860,796
JBrowse link
G G SLC25A20 solute carrier family 25 member 20 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:10,261,772...10,300,878
Ensembl chr22:10,261,634...10,300,778
JBrowse link
G P SLC25A20 solute carrier family 25 member 20 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:31,523,820...31,553,289
Ensembl chr13:31,523,821...31,553,286
JBrowse link
G S Slc25a20 solute carrier family 25 member 20 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:607,035...631,872
Ensembl chrNW_004936529:606,804...631,991
JBrowse link
G D SLC25A20 solute carrier family 25 member 20 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:40,244,222...40,271,100
Ensembl chr20:40,244,229...40,270,433
JBrowse link
G B SLC25A20 solute carrier family 25 member 20 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,782,960...48,824,616
Ensembl chr 3:49,863,259...49,901,839
JBrowse link
G C Slc25a20 solute carrier family 25 member 20 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955532:902,937...933,675
Ensembl chrNW_004955532:902,937...921,174
JBrowse link
G R Slc25a20 solute carrier family 25 member 20 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:118,243,573...118,265,027
Ensembl chr 8:109,365,002...109,386,512
JBrowse link
G M Slc25a20 solute carrier family 25 (mitochondrial carnitine/acylcarnitine translocase), member 20 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,539,335...108,561,841
Ensembl chr 9:108,539,287...108,561,840
JBrowse link
G H SLC25A20 solute carrier family 25 member 20 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,856,926...48,898,882
Ensembl chr 3:48,856,926...48,898,904
JBrowse link
G N Slc26a6 solute carrier family 26 member 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:2,639,940...2,649,358
Ensembl chrNW_004624730:2,640,208...2,649,203
JBrowse link
G G SLC26A6 solute carrier family 26 member 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:10,035,676...10,046,274
Ensembl chr22:10,035,478...10,045,304
JBrowse link
G P SLC26A6 solute carrier family 26 member 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:31,319,287...31,330,649
Ensembl chr13:31,317,877...31,330,580
JBrowse link
G S Slc26a6 solute carrier family 26 member 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:425,839...435,590
Ensembl chrNW_004936529:424,720...435,293
JBrowse link
G B SLC26A6 solute carrier family 26 member 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,547,277...48,557,099
Ensembl chr 3:49,629,237...49,639,039
JBrowse link
G C Slc26a6 solute carrier family 26 member 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955532:713,725...723,190
Ensembl chrNW_004955532:713,215...722,817
JBrowse link
G R Slc26a6 solute carrier family 26 member 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:118,438,110...118,448,271
Ensembl chr 8:109,559,642...109,569,778
JBrowse link
G M Slc26a6 solute carrier family 26, member 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,731,239...108,742,117
Ensembl chr 9:108,730,482...108,742,117
JBrowse link
G H SLC26A6 solute carrier family 26 member 6 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,625,723...48,635,461
Ensembl chr 3:48,625,723...48,635,493
JBrowse link
G N Slc6a20 solute carrier family 6 member 20 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:75,081,189...75,107,288
Ensembl chrNW_004624730:75,084,748...75,109,112
JBrowse link
G G SLC6A20 solute carrier family 6 member 20 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:7,228,039...7,265,441
Ensembl chr22:7,228,517...7,265,031
JBrowse link
G P SLC6A20 solute carrier family 6 member 20 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:28,897,831...28,945,191
Ensembl chr13:28,899,821...28,945,187
JBrowse link
G S Slc6a20 solute carrier family 6 member 20 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936695:146,571...193,428
Ensembl chrNW_004936695:146,421...195,121
JBrowse link
G D SLC6A20 solute carrier family 6 member 20 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:42,702,368...42,725,804
Ensembl chr20:42,702,379...42,724,658
JBrowse link
G B SLC6A20 solute carrier family 6 member 20 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:45,663,830...45,703,576
Ensembl chr 3:46,770,067...46,811,158
JBrowse link
G H SLC6A20 solute carrier family 6 member 20 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:45,755,449...45,796,536
Ensembl chr 3:45,755,449...45,796,574
JBrowse link
G R Slc6a20a solute carrier family 6 member 20a ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:132,159,768...132,200,016
Ensembl chr 8:123,281,472...123,322,573
JBrowse link
G M Slc6a20b solute carrier family 6 (neurotransmitter transporter), member 20B ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:123,422,888...123,461,603
Ensembl chr 9:123,419,865...123,461,630
JBrowse link
G N Smarcc1 SWI/SNF related BAF chromatin remodeling complex subunit C1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:73,696,734...73,856,082
Ensembl chrNW_004624730:73,696,749...73,856,082
JBrowse link
G G SMARCC1 SWI/SNF related BAF chromatin remodeling complex subunit C1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:8,987,936...9,167,689
Ensembl chr22:8,987,012...9,134,946
JBrowse link
G P SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:30,409,979...30,576,270
Ensembl chr13:30,409,983...30,576,327
JBrowse link
G S Smarcc1 SWI/SNF related BAF chromatin remodeling complex subunit C1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:1,257,723...1,407,358
Ensembl chrNW_004936596:1,255,054...1,408,038
JBrowse link
G D SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:41,165,593...41,337,237
Ensembl chr20:41,165,522...41,335,917
JBrowse link
G B SMARCC1 SWI/SNF related BAF chromatin remodeling complex subunit C1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:47,487,948...47,683,623
Ensembl chr 3:48,590,221...48,781,248
JBrowse link
G C Smarcc1 SWI/SNF related BAF chromatin remodeling complex subunit C1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955420:24,594,057...24,729,108
Ensembl chrNW_004955420:24,593,830...24,729,108
JBrowse link
G R Smarcc1 SWI/SNF related BAF chromatin remodeling complex subunit C1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:118,986,917...119,093,161
Ensembl chr 8:110,111,122...110,214,720
JBrowse link
G M Smarcc1 SWI/SNF related BAF chromatin remodeling complex subunit C1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:109,961,129...110,069,773
Ensembl chr 9:109,946,776...110,069,246
JBrowse link
G H SMARCC1 SWI/SNF related BAF chromatin remodeling complex subunit C1 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:47,585,269...47,781,893
Ensembl chr 3:47,585,269...47,782,106
JBrowse link
G N Spink8 serine peptidase inhibitor Kazal type 8 (putative) ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:73,399,530...73,409,788 JBrowse link
G G SPINK8 serine peptidase inhibitor Kazal type 8 (putative) ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:9,702,931...9,734,555
Ensembl chr22:9,703,065...9,726,287
JBrowse link
G D SPINK8 serine peptidase inhibitor Kazal type 8 (putative) ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:40,737,192...40,753,887
Ensembl chr20:40,737,264...40,753,712
JBrowse link
G B SPINK8 serine peptidase inhibitor Kazal type 8 (putative) ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,219,663...48,249,064
Ensembl chr 3:49,304,505...49,327,704
JBrowse link
G C Spink8 serine peptidase inhibitor Kazal type 8 (putative) ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955420:24,283,223...24,298,948 JBrowse link
G R Spink8 serine peptidase inhibitor, Kazal type 8 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,814,062...109,828,994
Ensembl chr 8:109,817,365...109,828,994
JBrowse link
G M Spink8 serine peptidase inhibitor, Kazal type 8 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:109,641,271...109,655,696
Ensembl chr 9:109,641,348...109,655,701
JBrowse link
G H SPINK8 serine peptidase inhibitor Kazal type 8 (putative) IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,306,842...48,333,661
Ensembl chr 3:48,306,842...48,333,661
JBrowse link
G D TMA7 translation machinery associated 7 homolog ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr27:40,713,865...40,714,228
Ensembl chr27:40,713,879...40,714,073
JBrowse link
G B TMA7 translation machinery associated 7 homolog ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,362,222...48,366,235
Ensembl chr 3:49,445,111...49,448,009
JBrowse link
G C Tma7 translation machinery associated 7 homolog ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955420:16,389,256...16,389,553 JBrowse link
G R Tma7 translation machinery associated 7 homolog ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,726,213...109,730,902
Ensembl chr 8:109,726,196...109,735,474
JBrowse link
G M Tma7 translational machinery associated 7 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,907,056...108,911,449
Ensembl chr 9:108,903,636...108,911,655
JBrowse link
G H TMA7 translation machinery associated 7 homolog IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,440,257...48,444,208
Ensembl chr 3:48,440,257...48,444,208
JBrowse link
G N Tmem89 transmembrane protein 89 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:2,634,999...2,637,832
Ensembl chrNW_004624730:2,636,577...2,637,473
JBrowse link
G G TMEM89 transmembrane protein 89 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:10,029,176...10,030,420
Ensembl chr22:10,029,181...10,030,078
JBrowse link
G P TMEM89 transmembrane protein 89 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:31,315,148...31,316,849
Ensembl chr13:31,315,737...31,316,740
JBrowse link
G S Tmem89 transmembrane protein 89 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:422,145...424,320
Ensembl chrNW_004936529:423,025...423,958
JBrowse link
G D TMEM89 transmembrane protein 89 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:40,496,844...40,497,742
Ensembl chr20:40,496,844...40,497,742
JBrowse link
G B TMEM89 transmembrane protein 89 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,542,058...48,543,674
Ensembl chr 3:49,624,215...49,625,444
JBrowse link
G R Tmem89 transmembrane protein 89 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,571,377...109,572,271
Ensembl chr 8:109,571,377...109,572,271
JBrowse link
G M Tmem89 transmembrane protein 89 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,743,687...108,744,631
Ensembl chr 9:108,743,687...108,744,631
JBrowse link
G H TMEM89 transmembrane protein 89 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,620,759...48,621,769
Ensembl chr 3:48,620,759...48,621,769
JBrowse link
G N Tmie transmembrane inner ear ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:74,498,257...74,506,180
Ensembl chrNW_004624730:74,498,281...74,505,041
JBrowse link
G G TMIE transmembrane inner ear ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:8,114,995...8,133,827 JBrowse link
G P TMIE transmembrane inner ear ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:29,623,905...29,633,016
Ensembl chr13:29,624,154...29,633,013
JBrowse link
G S Tmie transmembrane inner ear ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:531,260...540,608
Ensembl chrNW_004936596:531,254...541,693
JBrowse link
G D TMIE transmembrane inner ear ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:42,052,607...42,061,424
Ensembl chr20:42,053,817...42,061,262
JBrowse link
G B TMIE transmembrane inner ear ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,590,527...46,608,981 JBrowse link
G C Tmie transmembrane inner ear ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955420:25,428,542...25,435,701
Ensembl chrNW_004955420:25,428,503...25,435,701
JBrowse link
G R Tmie transmembrane inner ear ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:119,728,123...119,743,219
Ensembl chr 8:110,850,034...110,864,803
JBrowse link
G M Tmie transmembrane inner ear ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:110,694,755...110,709,141
Ensembl chr 9:110,694,779...110,709,181
JBrowse link
G H TMIE transmembrane inner ear IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,693,778...46,710,886
Ensembl chr 3:46,694,528...46,710,886
JBrowse link
G N Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:2,431,270...2,433,010
Ensembl chrNW_004624730:2,431,999...2,432,959
JBrowse link
G G TREX1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:9,869,502...9,871,659 JBrowse link
G P TREX1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:31,177,604...31,180,764
Ensembl chr13:31,179,291...31,180,747
JBrowse link
G S Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:264,535...266,451
Ensembl chrNW_004936529:264,468...266,422
JBrowse link
G D TREX1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:40,624,845...40,626,840
Ensembl chr20:40,624,891...40,626,906
JBrowse link
G B TREX1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,387,762...48,389,693
Ensembl chr 3:49,470,222...49,471,331
JBrowse link
G C Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955532:533,877...535,767
Ensembl chrNW_004955532:533,877...535,767
JBrowse link
G R Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:118,585,082...118,586,382
Ensembl chr 8:109,706,613...109,708,796
JBrowse link
G M Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,887,000...108,888,791
Ensembl chr 9:108,887,001...108,888,802
JBrowse link
G H TREX1 three prime repair exonuclease 1 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
JBrowse link
G N Ucn2 urocortin 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:2,567,154...2,568,387 JBrowse link
G G UCN2 urocortin 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:9,962,339...9,964,553 JBrowse link
G P UCN2 urocortin 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:31,261,196...31,261,824
Ensembl chr13:31,261,196...31,261,534
JBrowse link
G S Ucn2 urocortin 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:347,411...348,040 JBrowse link
G D UCN2 urocortin 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:40,551,060...40,552,920 JBrowse link
G B UCN2 urocortin 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,484,628...48,485,179 JBrowse link
G C Ucn2 urocortin 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955532:648,845...650,020 JBrowse link
G R Ucn2 urocortin 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:118,516,111...118,517,660
Ensembl chr 8:109,638,285...109,639,172
JBrowse link
G M Ucn2 urocortin 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,815,231...108,816,232
Ensembl chr 9:108,815,078...108,816,232
JBrowse link
G H UCN2 urocortin 2 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,561,718...48,563,781
Ensembl chr 3:48,561,718...48,563,781
JBrowse link
G G UQCRC1 ubiquinol-cytochrome c reductase core protein I ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:10,000,432...10,012,524
Ensembl chr22:10,000,864...10,012,202
JBrowse link
G P UQCRC1 ubiquinol-cytochrome c reductase core protein 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:31,298,449...31,308,719
Ensembl chr13:31,298,449...31,309,516
JBrowse link
G D UQCRC1 ubiquinol-cytochrome c reductase core protein 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:40,507,767...40,515,854
Ensembl chr20:40,506,907...40,520,110
JBrowse link
G R Uqcrc1 ubiquinol-cytochrome c reductase core protein 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:118,468,223...118,479,968
Ensembl chr 8:109,589,706...109,601,480
JBrowse link
G M Uqcrc1 ubiquinol-cytochrome c reductase core protein 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,765,716...108,778,709
Ensembl chr 9:108,765,701...108,778,691
JBrowse link
G H UQCRC1 ubiquinol-cytochrome c reductase core protein 1 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,599,002...48,609,646
Ensembl chr 3:48,599,002...48,610,976
JBrowse link
G N Wdr6 WD repeat domain 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:3,058,947...3,063,709
Ensembl chrNW_004624730:3,055,610...3,063,153
JBrowse link
G G WDR6 WD repeat domain 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:10,407,421...10,416,295
Ensembl chr22:10,407,703...10,415,633
JBrowse link
G P WDR6 WD repeat domain 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:31,642,207...31,651,367
Ensembl chr13:31,642,325...31,651,361
JBrowse link
G S Wdr6 WD repeat domain 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936529:731,958...741,334
Ensembl chrNW_004936529:730,716...745,427
JBrowse link
G D WDR6 WD repeat domain 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:40,148,262...40,157,770
Ensembl chr20:40,148,928...40,157,650
JBrowse link
G B WDR6 WD repeat domain 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,931,669...48,940,591
Ensembl chr 3:50,013,708...50,021,367
JBrowse link
G C Wdr6 WD repeat domain 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004955532:1,029,857...1,039,020
Ensembl chrNW_004955532:1,028,466...1,039,020
JBrowse link
G R Wdr6 WD repeat domain 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,268,079...109,274,504
Ensembl chr 8:109,268,079...109,274,499
JBrowse link
G M Wdr6 WD repeat domain 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,449,510...108,455,862
Ensembl chr 9:108,449,510...108,455,938
JBrowse link
G H WDR6 WD repeat domain 6 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:49,007,391...49,015,951
Ensembl chr 3:49,007,062...49,015,953
JBrowse link
G N Xcr1 X-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004624730:74,913,815...74,921,198
Ensembl chrNW_004624730:74,915,383...74,919,308
JBrowse link
G G XCR1 X-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:7,495,008...7,503,202
Ensembl chr22:7,496,260...7,497,261
JBrowse link
G P XCR1 X-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr13:29,150,376...29,233,802
Ensembl chr13:29,150,379...29,159,637
JBrowse link
G S Xcr1 X-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chrNW_004936596:93,433...94,480
Ensembl chrNW_004936596:93,433...94,434
JBrowse link
G D XCR1 X-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr20:42,505,534...42,516,524
Ensembl chr20:42,511,431...42,512,423
JBrowse link
G B XCR1 X-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:45,922,985...45,934,332
Ensembl chr 3:47,033,084...47,034,085
JBrowse link
G R Xcr1 X-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:132,357,020...132,393,596
Ensembl chr 8:123,479,590...123,487,226
JBrowse link
G M Xcr1 chemokine (C motif) receptor 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:123,681,380...123,691,094
Ensembl chr 9:123,681,380...123,691,094
JBrowse link
G H XCR1 X-C motif chemokine receptor 1 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:46,017,007...46,085,844
Ensembl chr 3:46,016,990...46,085,825
JBrowse link
G G ZNF589 zinc finger protein 589 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr22:9,626,332...9,662,734 JBrowse link
G B ZNF589 zinc finger protein 589 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,155,002...48,188,343 JBrowse link
G H ZNF589 zinc finger protein 589 IAGP ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 3:48,241,104...48,270,990
Ensembl chr 3:48,241,100...48,299,253
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      Neurodevelopmental Disorders 76987
        Developmental Disabilities 8201
          cerebellar hypoplasia 1047
            NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY 10
            NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA 17
            NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA 10
            POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS 20
            Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy 641
            cerebellar hyplasia/atrophy, epilepsy, and global developmental delay 10
            lissencephaly 7 with cerebellar hypoplasia 10
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        central nervous system disease 157774
          brain disease 148547
            disease of mental health 111500
              Neurodevelopmental Disorders 76987
                Developmental Disabilities 8201
                  cerebellar hypoplasia 1047
                    NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY 10
                    NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA 17
                    NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA 10
                    POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS 20
                    Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy 641
                    cerebellar hyplasia/atrophy, epilepsy, and global developmental delay 10
                    lissencephaly 7 with cerebellar hypoplasia 10
paths to the root