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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Central nervous system cyst
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Accession:HP:0030724 term browser browse the term
Definition:A fluid-filled sac (cyst) located within the central nervous system.
Comment:Cysts of CNS are usually maldevelopmental in nature, but in some cases are acquired. The recognition of these cysts radiologically and confirmation by pathology is essential for prognostic purposes.
Synonyms:exact_synonym: CNS cyst;   Cyst of the central nervous system
 xref: MESH:D020863;   SNOMEDCT_US:277333006;   UMLS:C0349606


show annotations for term's descendants           Sort by:
Central nervous system cyst term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EXOC2 exocyst complex component 2 IAGP OMIM:619306 HPO NCBI chr 6:485,154...693,139
Ensembl chr 6:485,154...693,139 		JBrowse link
Basal ganglia cysts term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific IAGP ORPHA:225154 HPO NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP OMIM:608836 HPO NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197 		JBrowse link
G GFM1 G elongation factor mitochondrial 1 IAGP OMIM:609060 HPO NCBI chr 3:158,644,527...158,695,581
Ensembl chr 3:158,644,527...158,695,581 		JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP ORPHA:79243 HPO NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572 		JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP ORPHA:225154 HPO NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207 		JBrowse link
G NUP62 nucleoporin 62 IAGP ORPHA:225154 HPO NCBI chr19:49,906,825...49,929,504
Ensembl chr19:49,906,825...49,929,764 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 IAGP OMIM:312170 HPO NCBI chr  X:19,343,927...19,361,718
Ensembl chr  X:19,343,893...19,361,718 		JBrowse link
Cerebellar cyst term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGTPBP1 ATP/GTP binding carboxypeptidase 1 IAGP ORPHA:2254 HPO NCBI chr 9:85,546,539...85,805,483
Ensembl chr 9:85,546,539...85,742,029 		JBrowse link
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 IAGP OMIM:615181 HPO NCBI chr 1:235,439,796...235,504,452
Ensembl chr 1:235,447,190...235,504,452 		JBrowse link
G CEP290 centrosomal protein 290 IAGP ClinVar Annotator: match by term: Cerebellar cyst ClinVar PMID:16909394 PMID:17345604 PMID:17564967 PMID:17705300 PMID:19466712 More... NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP OMIM:618343 HPO NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP ORPHA:370980 HPO NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504 		JBrowse link
G DAG1 dystroglycan 1 IAGP ORPHA:370997 HPO NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618 		JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP OMIM:613091 HPO NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863 		JBrowse link
G EXOSC3 exosome component 3 IAGP ORPHA:2254 HPO NCBI chr 9:37,779,714...37,785,092
Ensembl chr 9:37,759,234...37,832,117 		JBrowse link
G EXOSC8 exosome component 8 IAGP ORPHA:2254 HPO NCBI chr13:37,000,786...37,009,614
Ensembl chr13:36,998,816...37,025,881 		JBrowse link
G EXOSC9 exosome component 9 IAGP ORPHA:2254 HPO NCBI chr 4:121,801,323...121,817,021
Ensembl chr 4:121,801,318...121,817,021 		JBrowse link
G FKRP fukutin related protein IAGP OMIM:606612 ORPHA:370959 ORPHA:370980
DNA:missense mutation: :p.A455D(human)		 HPO
RGD		 PMID:14652796 RGD:1358626 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FKTN fukutin IAGP OMIM:253800 ORPHA:370980 HPO NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G GLI2 GLI family zinc finger 2 IAGP ClinVar Annotator: match by term: Cerebellar cyst ClinVar PMID:25741868 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP ORPHA:370959 HPO NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973 		JBrowse link
G LAMA1 laminin subunit alpha 1 IAGP ORPHA:370022 HPO NCBI chr18:6,941,742...7,117,797
Ensembl chr18:6,941,742...7,117,797 		JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP ORPHA:79243 HPO NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP OMIM:311200 HPO NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 IAGP ORPHA:79243 HPO NCBI chr  X:19,343,927...19,361,718
Ensembl chr  X:19,343,893...19,361,718 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP OMIM:253280 OMIM:613151 ORPHA:370959 HPO NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305 		JBrowse link
G POMK protein O-mannose kinase IAGP ORPHA:370959 HPO NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP ORPHA:370959 ORPHA:370980 HPO NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP OMIM:613150 ORPHA:370959 HPO NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase IAGP ORPHA:2524 HPO NCBI chr 4:25,120,014...25,160,582
Ensembl chr 4:25,120,014...25,160,550 		JBrowse link
G SLC25A46 solute carrier family 25 member 46 IAGP ORPHA:2254 HPO NCBI chr 5:110,738,145...110,765,157
Ensembl chr 5:110,738,136...110,765,161 		JBrowse link
G TSEN15 tRNA splicing endonuclease subunit 15 IAGP ORPHA:2524 HPO NCBI chr 1:184,051,730...184,097,485
Ensembl chr 1:184,051,651...184,123,978 		JBrowse link
G TSEN2 tRNA splicing endonuclease subunit 2 IAGP ORPHA:2524 HPO NCBI chr 3:12,480,231...12,539,624
Ensembl chr 3:12,484,421...12,541,549 		JBrowse link
G TSEN34 tRNA splicing endonuclease subunit 34 IAGP ORPHA:2524 HPO NCBI chr19:54,189,441...54,194,532
Ensembl chr19:54,189,938...54,194,536 		JBrowse link
G TSEN54 tRNA splicing endonuclease subunit 54 IAGP ORPHA:2524 HPO NCBI chr17:75,516,528...75,524,735
Ensembl chr17:75,515,944...75,524,735 		JBrowse link
G VRK1 VRK serine/threonine kinase 1 IAGP ORPHA:2254 HPO NCBI chr14:96,797,382...96,881,609
Ensembl chr14:96,797,304...96,954,846 		JBrowse link
Cerebellopontine angle arachnoid cyst term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PUF60 poly(U) binding splicing factor 60 IAGP ORPHA:508498 HPO NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709 		JBrowse link
Dandy-Walker malformation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFF3 ALF transcription elongation factor 3 IAGP OMIM:619297 HPO NCBI chr 2:99,545,419...100,142,590
Ensembl chr 2:99,545,419...100,192,428 		JBrowse link
G ALG3 ALG3 alpha-1,3- mannosyltransferase IAGP ORPHA:79321 HPO NCBI chr 3:184,242,301...184,249,525
Ensembl chr 3:184,242,301...184,249,548 		JBrowse link
G AP1S2 adaptor related protein complex 1 subunit sigma 2 IAGP OMIM:304340 HPO NCBI chr  X:15,825,806...15,854,813
Ensembl chr  X:15,825,806...15,854,931 		JBrowse link
G ARID1A AT-rich interaction domain 1A IAGP ORPHA:1465 HPO NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104 		JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP OMIM:135900 ORPHA:1465 HPO NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779 		JBrowse link
G ARID2 AT-rich interaction domain 2 IAGP ORPHA:1465 HPO NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040 		JBrowse link
G ARMC9 armadillo repeat containing 9 IAGP OMIM:617622
ClinVar Annotator: match by term: Dandy-Walker malformation
ClinVar Annotator: match by term: Dandy-Walker cyst		 HPO
ClinVar		 PMID:28492532 PMID:28625504 PMID:31474318 NCBI chr 2:231,198,631...231,376,848
Ensembl chr 2:231,198,546...231,376,848 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP OMIM:605039 ORPHA:97297 HPO NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G ATP6V0A2 ATPase H+ transporting V0 subunit a2 IAGP OMIM:219200 ORPHA:2834 ORPHA:357074 HPO NCBI chr12:123,712,353...123,761,755
Ensembl chr12:123,712,353...123,761,755 		JBrowse link
G ATP6V1A ATPase H+ transporting V1 subunit A IAGP ORPHA:357074 HPO NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056 		JBrowse link
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 IAGP ORPHA:79500 HPO NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819 		JBrowse link
G ATP6V1E1 ATPase H+ transporting V1 subunit E1 IAGP ORPHA:357074 HPO NCBI chr22:17,592,136...17,628,822
Ensembl chr22:17,592,136...17,628,749 		JBrowse link
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 IAGP ORPHA:899 HPO NCBI chr 1:235,439,796...235,504,452
Ensembl chr 1:235,447,190...235,504,452 		JBrowse link
G B4GALT1 beta-1,4-galactosyltransferase 1 IAGP OMIM:607091 ORPHA:79332 HPO NCBI chr 9:33,104,077...33,185,089
Ensembl chr 9:33,104,082...33,167,356 		JBrowse link
G B4GAT1 beta-1,4-glucuronyltransferase 1 IAGP OMIM:615287 ORPHA:899 HPO NCBI chr11:66,345,374...66,347,629
Ensembl chr11:66,345,374...66,347,629 		JBrowse link
G B9D1 B9 domain containing 1 IAGP ORPHA:564 HPO NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193 		JBrowse link
G B9D2 B9 domain containing 2 IAGP ORPHA:564 HPO NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165 		JBrowse link
G BCOR BCL6 corepressor IAGP OMIM:300166 HPO NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G BLTP1 bridge-like lipid transfer protein family member 1 IAGP ClinVar Annotator: match by term: Dandy-Walker cyst
OMIM:617822		 ClinVar
HPO		 PMID:25558065 NCBI chr 4:122,152,331...122,362,752
Ensembl chr 4:122,152,331...122,364,167 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Dandy-Walker malformation ClinVar PMID:4386970 PMID:5771505 PMID:16372351 PMID:16523510 PMID:16804887 More... NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G BUB1 BUB1 mitotic checkpoint serine/threonine kinase IAGP ORPHA:1052 HPO NCBI chr 2:110,637,528...110,678,063
Ensembl chr 2:110,637,528...110,678,063 		JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B IAGP OMIM:257300 ORPHA:1052 HPO NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123 		JBrowse link
G BUB3 BUB3 mitotic checkpoint protein IAGP ORPHA:1052 HPO NCBI chr10:123,154,402...123,170,467
Ensembl chr10:123,154,402...123,170,467 		JBrowse link
G C2CD3 C2 domain containing 3 centriole elongation regulator IAGP ORPHA:434179 HPO NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP ORPHA:564 HPO NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552 		JBrowse link
G CCDC22 coiled-coil domain containing 22 IAGP OMIM:300963 ORPHA:7 HPO NCBI chr  X:49,235,470...49,250,520
Ensembl chr  X:49,235,470...49,250,520 		JBrowse link
G CDC42 cell division cycle 42 IAGP ORPHA:487796 HPO NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,052,627...22,101,360 		JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C IAGP OMIM:130650 HPO NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775 		JBrowse link
G CEP120 centrosomal protein 120 IAGP OMIM:616300 HPO NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592 		JBrowse link
G CEP290 centrosomal protein 290 IAGP OMIM:611134 ORPHA:564 HPO NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G CEP57 centrosomal protein 57 IAGP ORPHA:1052 HPO NCBI chr11:95,790,498...95,832,693
Ensembl chr11:95,789,965...95,832,693 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP ORPHA:138 HPO NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G CHN1 chimerin 1 IAGP ClinVar Annotator: match by term: Dandy-Walker cyst ClinVar PMID:25741868 NCBI chr 2:174,798,809...175,005,381
Ensembl chr 2:174,798,809...175,005,381 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP ORPHA:899 HPO NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,157 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP ORPHA:228305 HPO NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197 		JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP OMIM:614643 ORPHA:899 HPO NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504 		JBrowse link
G CSF1R colony stimulating factor 1 receptor IAGP OMIM:618476 HPO NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372 		JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP ORPHA:397715 ORPHA:564 HPO NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778 		JBrowse link
G DAG1 dystroglycan 1 IAGP ORPHA:899 HPO NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618 		JBrowse link
G DENND5A DENN domain containing 5A IAGP OMIM:617281 HPO NCBI chr11:9,138,825...9,265,350
Ensembl chr11:9,138,825...9,265,959 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP OMIM:270400 HPO NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868 		JBrowse link
G DOK7 docking protein 7 IAGP ORPHA:994 HPO NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473 		JBrowse link
G DPF2 double PHD fingers 2 IAGP ORPHA:1465 HPO NCBI chr11:65,333,852...65,354,262
Ensembl chr11:65,333,843...65,354,262 		JBrowse link
G DPH1 diphthamide biosynthesis 1 IAGP ORPHA:459061
ClinVar Annotator: match by term: Dandy-Walker cyst		 HPO
ClinVar		 PMID:25558065 PMID:30877278 NCBI chr17:2,030,112...2,043,898
Ensembl chr17:2,030,137...2,043,898 		JBrowse link
G DPYSL5 dihydropyrimidinase like 5 IAGP ClinVar Annotator: match by term: Dandy-Walker cyst
OMIM:619435		 ClinVar
HPO		 PMID:3812597 PMID:31474318 PMID:33894126 NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351 		JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP ORPHA:93271 HPO NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863 		JBrowse link
G DYNC2I1 dynein 2 intermediate chain 1 IAGP ORPHA:93271 HPO NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747 		JBrowse link
G DYNC2I2 dynein 2 intermediate chain 2 IAGP ORPHA:93271 HPO NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,653...128,656,847 		JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP OMIM:300960 OMIM:302960 ORPHA:401973 HPO NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716 		JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP ORPHA:2319 HPO NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640 		JBrowse link
G EVC EvC ciliary complex subunit 1 IAGP OMIM:225500 HPO NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305 		JBrowse link
G EVC2 EvC ciliary complex subunit 2 IAGP OMIM:225500 HPO NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548 		JBrowse link
G FAR1 fatty acyl-CoA reductase 1 IAGP OMIM:616154 ORPHA:438178 HPO NCBI chr11:13,668,668...13,732,346
Ensembl chr11:13,668,668...13,732,346 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP OMIM:613001 HPO NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FKRP fukutin related protein IAGP OMIM:236670 OMIM:613153 ORPHA:899 HPO NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FKTN fukutin IAGP OMIM:236670 ORPHA:899 HPO NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G FLVCR2 FLVCR heme transporter 2 IAGP OMIM:225790 HPO NCBI chr14:75,578,620...75,648,167
Ensembl chr14:75,578,620...75,663,214 		JBrowse link
G FTO FTO alpha-ketoglutarate dependent dioxygenase IAGP OMIM:612938 HPO NCBI chr16:53,703,963...54,121,941
Ensembl chr16:53,701,692...54,158,512 		JBrowse link
G GJB2 gap junction protein beta 2 IAGP ORPHA:477 HPO NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G GJB6 gap junction protein beta 6 IAGP ORPHA:477 HPO NCBI chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,365 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP ORPHA:36 HPO NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G GPC3 glypican 3 IAGP ORPHA:373 HPO NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G GPC4 glypican 4 IAGP ORPHA:373 HPO NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489 		JBrowse link
G GTPBP2 GTP binding protein 2 IAGP OMIM:617988 HPO NCBI chr 6:43,620,494...43,631,333
Ensembl chr 6:43,605,316...43,629,264 		JBrowse link
G H19-ICR H19/IGF2 imprinting control region IAGP OMIM:130650 HPO NCBI chr11:1,998,745...2,003,509 JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ORPHA:2612 HPO NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP OMIM:236680
ClinVar Annotator: match by term: Dandy-Walker malformation
ClinVar Annotator: match by term: Dandy-Walker cyst		 HPO
ClinVar		 PMID:25741868 PMID:28492532 PMID:30697592 PMID:31474318 NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646 		JBrowse link
G IFT80 intraflagellar transport 80 IAGP ORPHA:93271 HPO NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880 		JBrowse link
G IGF2 insulin like growth factor 2 IAGP OMIM:130650 HPO NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G INTS1 integrator complex subunit 1 IAGP ClinVar Annotator: match by term: Dandy-Walker cyst ClinVar NCBI chr 7:1,470,277...1,504,389
Ensembl chr 7:1,470,277...1,504,389 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP OMIM:130650 HPO NCBI chr11:2,445,008...2,849,110
Ensembl chr11:2,444,684...2,849,105 		JBrowse link
G KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 IAGP OMIM:130650 HPO NCBI chr11:2,608,328...2,699,998
Ensembl chr11:2,608,328...2,699,994 		JBrowse link
G KIAA0586 KIAA0586 IAGP ORPHA:397715 HPO NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297 		JBrowse link
G KIF1A kinesin family member 1A IAGP ClinVar Annotator: match by term: Dandy-Walker cyst ClinVar PMID:25741868 NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293 		JBrowse link
G KIF7 kinesin family member 7 IAGP ORPHA:36 HPO NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086 		JBrowse link
G KMT2D lysine methyltransferase 2D IAGP ClinVar Annotator: match by term: Dandy-Walker cyst ClinVar PMID:25741868 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ORPHA:2612 HPO NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP OMIM:236670 OMIM:613154 ORPHA:899 HPO NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		JBrowse link
G MAB21L1 mab-21 like 1 IAGP OMIM:618479 HPO NCBI chr13:35,473,789...35,476,689
Ensembl chr13:35,473,419...35,478,764 		JBrowse link
G MAGED2 MAGE family member D2 IAGP ClinVar Annotator: match by term: Dandy-Walker cyst ClinVar NCBI chr  X:54,807,745...54,816,015
Ensembl chr  X:54,807,599...54,816,015 		JBrowse link
G MID1 midline 1 IAGP ClinVar Annotator: match by term: Dandy-Walker cyst
ORPHA:2745		 ClinVar
HPO		 PMID:15121778 PMID:15558842 PMID:25741868 NCBI chr  X:10,445,310...10,833,683
Ensembl chr  X:10,445,310...10,833,654 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP OMIM:249000 ORPHA:564 HPO NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605 		JBrowse link
G MTM1 myotubularin 1 IAGP OMIM:310400 HPO NCBI chr  X:150,562,653...150,673,143
Ensembl chr  X:150,568,417...150,673,143 		JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP ORPHA:994 HPO NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558 		JBrowse link
G MYOD1 myogenic differentiation 1 IAGP ORPHA:994 HPO NCBI chr11:17,719,571...17,722,136
Ensembl chr11:17,719,571...17,722,136 		JBrowse link
G NPHP3 nephrocystin 3 IAGP OMIM:208540 OMIM:267010 ORPHA:3032 HPO NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP OMIM:249400 ORPHA:2612 HPO NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G NUP88 nucleoporin 88 IAGP ORPHA:994 HPO NCBI chr17:5,384,833...5,419,662
Ensembl chr17:5,359,668...5,420,164 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP ORPHA:2750 HPO NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP ClinVar Annotator: match by term: Dandy-Walker malformation ClinVar PMID:12181311 PMID:25292412 PMID:25741868 PMID:28334876 PMID:28639748 More... NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G PHGDH phosphoglycerate dehydrogenase IAGP OMIM:256520 HPO NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,218 		JBrowse link
G PIBF1 progesterone immunomodulatory binding factor 1 IAGP ClinVar Annotator: match by term: Dandy-Walker cyst ClinVar PMID:25741868 PMID:26167768 PMID:30858804 PMID:31474318 NCBI chr13:72,782,133...73,016,461
Ensembl chr13:72,782,133...73,016,461 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP OMIM:248700 HPO NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G PIGN phosphatidylinositol glycan anchor biosynthesis class N IAGP ORPHA:2059 HPO NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118 		JBrowse link
G PLCH1 phospholipase C eta 1 IAGP OMIM:619895 HPO NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,071 		JBrowse link
G PLG plasminogen IAGP OMIM:217090 ORPHA:722 HPO NCBI chr 6:160,702,193...160,754,097
Ensembl chr 6:160,702,194...160,754,097 		JBrowse link
G PMM2 phosphomannomutase 2 IAGP ORPHA:79318 HPO NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP OMIM:264090 HPO NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP ORPHA:899 HPO NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305 		JBrowse link
G POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) IAGP ORPHA:899 HPO NCBI chr 3:43,079,234...43,106,079
Ensembl chr 3:43,079,229...43,106,085 		JBrowse link
G POMK protein O-mannose kinase IAGP ORPHA:899 HPO NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP OMIM:236670 ORPHA:899 HPO NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP OMIM:236670 ORPHA:899 HPO NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G PPP1CB protein phosphatase 1 catalytic subunit beta IAGP OMIM:617506
ClinVar Annotator: match by term: Dandy-Walker malformation		 HPO
ClinVar		 PMID:25741868 PMID:25741869 PMID:27264673 PMID:27681385 PMID:27868344 More... NCBI chr 2:28,751,604...28,802,940
Ensembl chr 2:28,751,640...28,802,940 		JBrowse link
G PUS3 pseudouridine synthase 3 IAGP ClinVar Annotator: match by term: Dandy-Walker cyst
ClinVar Annotator: match by term: Dandy-Walker malformation		 ClinVar PMID:25741868 PMID:28492532 PMID:30697592 PMID:31474318 NCBI chr11:125,893,485...125,903,206
Ensembl chr11:125,893,485...125,903,221 		JBrowse link
G RAPSN receptor associated protein of the synapse IAGP ORPHA:994 HPO NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143 		JBrowse link
G RNF113A ring finger protein 113A IAGP OMIM:300953 HPO NCBI chr  X:119,870,475...119,871,733
Ensembl chr  X:119,870,475...119,871,733 		JBrowse link
G RPGRIP1 RPGR interacting protein 1 IAGP ORPHA:564 HPO NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP ORPHA:564 HPO NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		JBrowse link
G RXYLT1 ribitol xylosyltransferase 1 IAGP ORPHA:899 HPO NCBI chr12:63,779,909...63,809,562
Ensembl chr12:63,779,833...63,809,792 		JBrowse link
G SEMA3E semaphorin 3E IAGP ORPHA:138 HPO NCBI chr 7:83,363,238...83,649,139
Ensembl chr 7:83,363,238...83,649,139 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase IAGP ClinVar Annotator: match by term: Dandy-Walker cyst ClinVar PMID:31474318 NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113 		JBrowse link
G SLC18A3 solute carrier family 18 member A3 IAGP ORPHA:994 HPO NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720 		JBrowse link
G SLC35A2 solute carrier family 35 member A2 IAGP ORPHA:356961 HPO NCBI chr  X:48,903,183...48,911,958
Ensembl chr  X:48,903,180...48,911,958 		JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 IAGP OMIM:614609 ORPHA:1465 HPO NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP ORPHA:1465 HPO NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
G SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 IAGP ORPHA:1465 HPO NCBI chr12:56,162,359...56,189,483
Ensembl chr12:56,162,359...56,189,567 		JBrowse link
G SMARCD1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 IAGP ORPHA:1465 HPO NCBI chr12:50,085,342...50,100,707
Ensembl chr12:50,085,200...50,100,707 		JBrowse link
G SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 IAGP OMIM:616938 ORPHA:1465 HPO NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654 		JBrowse link
G SMG9 SMG9 nonsense mediated mRNA decay factor IAGP OMIM:616920 HPO NCBI chr19:43,727,983...43,754,962
Ensembl chr19:43,727,983...43,754,962 		JBrowse link
G SOX11 SRY-box transcription factor 11 IAGP ORPHA:1465 HPO NCBI chr 2:5,692,384...5,701,385
Ensembl chr 2:5,692,384...5,701,385 		JBrowse link
G SOX4 SRY-box transcription factor 4 IAGP ORPHA:1465 HPO NCBI chr 6:21,593,751...21,598,619
Ensembl chr 6:21,593,751...21,598,619 		JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP OMIM:220500 ORPHA:79500 HPO NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560 		JBrowse link
G TCTN1 tectonic family member 1 IAGP ORPHA:564 HPO NCBI chr12:110,614,129...110,649,430
Ensembl chr12:110,614,027...110,663,431 		JBrowse link
G TCTN2 tectonic family member 2 IAGP ORPHA:564 HPO NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399 		JBrowse link
G TCTN3 tectonic family member 3 IAGP ORPHA:564 HPO NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
G TMEM107 transmembrane protein 107 IAGP ORPHA:564 HPO NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399 		JBrowse link
G TMEM138 transmembrane protein 138 IAGP OMIM:614465 HPO NCBI chr11:61,362,374...61,376,870
Ensembl chr11:61,361,964...61,377,890 		JBrowse link
G TMEM216 transmembrane protein 216 IAGP OMIM:603194 ORPHA:564 HPO NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866 		JBrowse link
G TMEM231 transmembrane protein 231 IAGP ORPHA:2752 ORPHA:564 HPO NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289 		JBrowse link
G TMEM237 transmembrane protein 237 IAGP OMIM:614424 HPO NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570 		JBrowse link
G TMEM47 transmembrane protein 47 IAGP ClinVar Annotator: match by term: Dandy-Walker cyst ClinVar NCBI chr  X:34,627,075...34,657,285
Ensembl chr  X:34,627,075...34,657,285 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP OMIM:607361 ORPHA:564 HPO NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G TRIP13 thyroid hormone receptor interactor 13 IAGP ORPHA:1052 HPO NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357 		JBrowse link
G TUBA1A tubulin alpha 1a IAGP ClinVar Annotator: match by term: Dandy-Walker malformation
ORPHA:994		 ClinVar
HPO		 PMID:20466733 PMID:25741868 PMID:28492532 PMID:30744660 PMID:31474318 More... NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,080 		JBrowse link
G TUBB tubulin beta class I IAGP OMIM:156610 HPO NCBI chr 6:30,720,352...30,725,422
Ensembl chr 6:30,717,435...30,725,538 		JBrowse link
G TXNDC15 thioredoxin domain containing 15 IAGP ORPHA:564 HPO NCBI chr 5:134,873,770...134,901,635
Ensembl chr 5:134,874,371...134,901,635 		JBrowse link
G USP9X ubiquitin specific peptidase 9 X-linked IAGP OMIM:300968 ORPHA:480880 HPO NCBI chr  X:41,085,445...41,236,579
Ensembl chr  X:41,085,445...41,236,579 		JBrowse link
G VPS51 VPS51 subunit of GARP complex IAGP OMIM:618606 HPO NCBI chr11:65,096,214...65,111,862
Ensembl chr11:65,089,324...65,111,862 		JBrowse link
G WASHC5 WASH complex subunit 5 IAGP OMIM:220210 ORPHA:7 HPO NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819 		JBrowse link
G WDR35 WD repeat domain 35 IAGP ORPHA:93271 HPO NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105 		JBrowse link
G WDR73 WD repeat domain 73 IAGP OMIM:251300 HPO NCBI chr15:84,639,285...84,654,283
Ensembl chr15:84,639,285...84,654,343 		JBrowse link
G WDR81 WD repeat domain 81 IAGP OMIM:617967 HPO NCBI chr17:1,716,523...1,738,585
Ensembl chr17:1,716,523...1,738,599 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP ClinVar Annotator: match by term: Dandy-Walker malformation ClinVar PMID:10521293 PMID:17568405 PMID:18700423 PMID:20888932 PMID:25741868 NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		JBrowse link
G ZIC1 Zic family member 1 IAGP OMIM:618736 HPO NCBI chr 3:147,409,365...147,416,719
Ensembl chr 3:147,393,422...147,510,293 		JBrowse link
Intracranial cystic lesion term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ORPHA:54595 HPO NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G CTNNB1 catenin beta 1 IAGP ORPHA:54595 HPO NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP ORPHA:99646 HPO NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074 		JBrowse link
G KIF7 kinesin family member 7 IAGP OMIM:200990 HPO NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086 		JBrowse link
Intraventricular arachnoid cyst term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WLS Wnt ligand secretion mediator IAGP OMIM:619648 HPO NCBI chr 1:68,098,459...68,232,546
Ensembl chr 1:68,098,473...68,233,120 		JBrowse link
Periventricular cysts term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPLX1 complexin 1 IAGP OMIM:194190 HPO NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129 		JBrowse link
G CTBP1 C-terminal binding protein 1 IAGP OMIM:194190 HPO NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333 		JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 IAGP ClinVar Annotator: match by term: Periventricular cysts ClinVar PMID:25741868 PMID:28492532 NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443 		JBrowse link
G FARSA phenylalanyl-tRNA synthetase subunit alpha IAGP OMIM:619013 HPO NCBI chr19:12,922,479...12,933,711
Ensembl chr19:12,922,479...12,934,037 		JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 IAGP OMIM:194190 HPO NCBI chr 4:1,010,212...1,026,898
Ensembl chr 4:1,009,936...1,026,898 		JBrowse link
G GFAP glial fibrillary acidic protein IAGP ORPHA:363722 HPO NCBI chr17:44,903,159...44,915,500
Ensembl chr17:44,903,159...44,916,937 		JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP OMIM:194190 HPO NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156 		JBrowse link
G LIPT2 lipoyl(octanoyl) transferase 2 IAGP OMIM:617668 HPO NCBI chr11:74,490,519...74,493,724
Ensembl chr11:74,490,519...74,493,724 		JBrowse link
G MAP1B microtubule associated protein 1B IAGP ClinVar Annotator: match by term: Periventricular cysts ClinVar PMID:25741868 NCBI chr 5:72,107,475...72,209,565
Ensembl chr 5:72,107,234...72,209,565 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP OMIM:194190 HPO NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP OMIM:309000 HPO NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561 		JBrowse link
G ODC1 ornithine decarboxylase 1 IAGP ORPHA:544488 HPO NCBI chr 2:10,439,968...10,448,327
Ensembl chr 2:10,439,968...10,448,327 		JBrowse link
G PDHB pyruvate dehydrogenase E1 subunit beta IAGP ORPHA:255138 HPO NCBI chr 3:58,427,630...58,433,832
Ensembl chr 3:58,427,630...58,433,857 		JBrowse link
G PDHX pyruvate dehydrogenase complex component X IAGP ORPHA:255182 HPO NCBI chr11:34,915,920...34,996,128
Ensembl chr11:34,915,829...35,020,591 		JBrowse link
Pineal cyst term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BPTF bromodomain PHD finger transcription factor IAGP ORPHA:529962 HPO NCBI chr17:67,825,503...67,984,378
Ensembl chr17:67,825,503...67,984,378 		JBrowse link
G GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 IAGP OMIM:618885 HPO NCBI chr 1:230,057,789...230,282,122
Ensembl chr 1:230,057,990...230,282,122 		JBrowse link
G KANSL1 KAT8 regulatory NSL complex subunit 1 IAGP ORPHA:363965 HPO NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389 		JBrowse link
G NONO non-POU domain containing octamer binding IAGP OMIM:300967 HPO NCBI chr  X:71,283,635...71,301,168
Ensembl chr  X:71,254,814...71,301,522 		JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 IAGP ORPHA:98908 HPO NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573 		JBrowse link
G PSMD12 proteasome 26S subunit, non-ATPase 12 IAGP OMIM:617516 ORPHA:529962 HPO NCBI chr17:67,337,916...67,366,577
Ensembl chr17:67,337,916...67,366,605 		JBrowse link
G WDR26 WD repeat domain 26 IAGP ORPHA:513456 HPO NCBI chr 1:224,385,146...224,434,797
Ensembl chr 1:224,385,146...224,437,033 		JBrowse link
Posterior fossa cyst term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase IAGP OMIM:613163 HPO NCBI chr16:8,674,617...8,784,570
Ensembl chr16:8,674,596...8,784,575 		JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP OMIM:615636 HPO NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778 		JBrowse link
G DPH1 diphthamide biosynthesis 1 IAGP ORPHA:459061 HPO NCBI chr17:2,030,112...2,043,898
Ensembl chr17:2,030,137...2,043,898 		JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease IAGP OMIM:616570 HPO NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP OMIM:101200 HPO NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FKRP fukutin related protein IAGP OMIM:236670 HPO NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FKTN fukutin IAGP OMIM:236670 HPO NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G GDF6 growth differentiation factor 6 IAGP OMIM:118100 HPO NCBI chr 8:96,142,333...96,160,806
Ensembl chr 8:96,142,333...96,160,806 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP OMIM:236670 HPO NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		JBrowse link
G PLCH1 phospholipase C eta 1 IAGP OMIM:619895 HPO NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,071 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP OMIM:236670 HPO NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP OMIM:236670 HPO NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G SNORD118 small nucleolar RNA, C/D box 118 IAGP ORPHA:542310 HPO NCBI chr17:8,173,452...8,173,588
Ensembl chr17:8,173,454...8,173,587 		JBrowse link
G VSX1 visual system homeobox 1 IAGP OMIM:614195 HPO NCBI chr20:25,070,880...25,082,141
Ensembl chr20:25,070,885...25,082,141 		JBrowse link
G WASHC5 WASH complex subunit 5 IAGP OMIM:220210 HPO NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819 		JBrowse link
Retrocerebellar cyst term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHDC1 AT-hook DNA binding motif containing 1 IAGP ORPHA:412069 HPO NCBI chr 1:27,534,245...27,604,227
Ensembl chr 1:27,534,035...27,604,431 		JBrowse link
G DOCK6 dedicator of cytokinesis 6 IAGP OMIM:614219 HPO NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524 		JBrowse link
G GRIA3 glutamate ionotropic receptor AMPA type subunit 3 IAGP ORPHA:364028 HPO NCBI chr  X:123,184,278...123,490,915
Ensembl chr  X:123,184,153...123,490,915 		JBrowse link
G GRM1 glutamate metabotropic receptor 1 IAGP OMIM:614831 HPO NCBI chr 6:146,027,707...146,437,601
Ensembl chr 6:146,027,646...146,437,601 		JBrowse link
G OPHN1 oligophrenin 1 IAGP OMIM:300486 ORPHA:137831 HPO NCBI chr  X:68,042,344...68,433,841
Ensembl chr  X:67,949,349...68,433,913 		JBrowse link
G SNX14 sorting nexin 14 IAGP ORPHA:397709 HPO NCBI chr 6:85,505,496...85,593,858
Ensembl chr 6:85,504,776...85,594,156 		JBrowse link
G TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 IAGP OMIM:617255 HPO NCBI chr12:88,142,307...88,199,887
Ensembl chr12:88,142,296...88,199,887 		JBrowse link
G ZSWIM6 zinc finger SWIM-type containing 6 IAGP OMIM:603671 ORPHA:1827 HPO NCBI chr 5:61,332,258...61,546,172
Ensembl chr 5:61,332,258...61,546,172 		JBrowse link
Subependymal cysts term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G D2HGDH D-2-hydroxyglutarate dehydrogenase IAGP OMIM:600721 HPO NCBI chr 2:241,734,630...241,768,811
Ensembl chr 2:241,734,602...241,768,816 		JBrowse link
G GLUL glutamate-ammonia ligase IAGP OMIM:610015 HPO NCBI chr 1:182,378,098...182,391,790
Ensembl chr 1:182,378,098...182,392,206 		JBrowse link
G PDHX pyruvate dehydrogenase complex component X IAGP OMIM:245349 HPO NCBI chr11:34,915,920...34,996,128
Ensembl chr11:34,915,829...35,020,591 		JBrowse link
G PEX1 peroxisomal biogenesis factor 1 IAGP OMIM:214100 HPO NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520 		JBrowse link
G PLCH1 phospholipase C eta 1 IAGP OMIM:619895 HPO NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,071 		JBrowse link
G TUBGCP2 tubulin gamma complex associated protein 2 IAGP OMIM:618737 HPO NCBI chr10:133,278,635...133,312,337
Ensembl chr10:133,278,635...133,318,823 		JBrowse link
G TXN2 thioredoxin 2 IAGP OMIM:616811 ORPHA:478029 HPO NCBI chr22:36,467,046...36,481,640
Ensembl chr22:36,467,046...36,481,640 		JBrowse link
Suprasellar arachnoid cyst term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM231 transmembrane protein 231 IAGP ORPHA:2752 HPO NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289 		JBrowse link
Tarlov cyst term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LARS2 leucyl-tRNA synthetase 2, mitochondrial IAGP OMIM:615300 HPO NCBI chr 3:45,388,576...45,549,407
Ensembl chr 3:45,388,561...45,554,726 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 15292
    Phenotypic abnormality 15290
      Abnormality of the nervous system 10551
        Abnormal nervous system morphology 4209
          Morphological central nervous system abnormality 4062
            Central nervous system cyst 212
              Intracranial cystic lesion + 210
              Neurenteric cyst + 0
              Tarlov cyst 1
paths to the root