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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:cerebral degeneration
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Accession:DOID:1443 term browser browse the term
Definition:A brain disease that is characterized by loss of structure or function of neurons, including death of neurons and loss of brain tissue. (DO)
Synonyms:exact_synonym: brain degeneration
 primary_id: RDO:9002746
 xref: GARD:6019;   ICD9CM:331.9
For additional species annotation, visit the Alliance of Genome Resources.


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cerebral degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: Brain degeneration ClinVar PMID:30311386 NCBI chrNW_004955545:1,682,097...1,689,373
Ensembl chrNW_004955545:1,682,097...1,689,376
JBrowse link
G Glb1 galactosidase beta 1 ISO ClinVar Annotator: match by term: Brain degeneration ClinVar PMID:10338095, PMID:10737981, PMID:15714521, PMID:16941474, PMID:17309651, PMID:17664528, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chrNW_004955421:230,957...311,504
Ensembl chrNW_004955421:231,076...312,500
JBrowse link
G Ptpn23 protein tyrosine phosphatase non-receptor type 23 ISO ClinVar Annotator: match by term: Brain degeneration ClinVar PMID:30311386 NCBI chrNW_004955420:24,869,737...24,897,196
Ensembl chrNW_004955420:24,869,894...24,897,102
JBrowse link
adrenoleukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 susceptibility ISO OMIM
RGD
PMID:8048932 RGD:1598655 NCBI chrNW_004955580:459,715...475,363
Ensembl chrNW_004955580:459,715...475,774
JBrowse link
G Acsbg1 acyl-CoA synthetase bubblegum family member 1 ISO RGD PMID:15800013 RGD:11065111 NCBI chrNW_004955450:703,874...744,782
Ensembl chrNW_004955450:701,517...745,126
JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955580:586,986...600,299 JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955580:927,546...934,633
Ensembl chrNW_004955580:927,114...934,734
JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955580:583,827...586,739
Ensembl chrNW_004955580:583,480...586,456
JBrowse link
G Bcap31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955580:429,223...459,168
Ensembl chrNW_004955580:428,644...459,168
JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955594:846,997...857,255
Ensembl chrNW_004955594:847,815...856,510
JBrowse link
G Dnase1l1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955580:907,056...913,604
Ensembl chrNW_004955580:907,582...914,243
JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955580:864,532...866,904
Ensembl chrNW_004955580:864,532...866,904
JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955594:658,686...800,101
Ensembl chrNW_004955594:658,523...802,865
JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955580:1,025,481...1,036,752
Ensembl chrNW_004955580:1,029,553...1,036,849
JBrowse link
G Fam50a family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955580:941,620...947,763 JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955580:874,233...895,172
Ensembl chrNW_004955580:874,233...895,232
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955580:1,045,294...1,058,129
Ensembl chrNW_004955580:1,045,294...1,057,083
JBrowse link
G Gab3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955594:882,921...955,079
Ensembl chrNW_004955594:912,108...956,037
JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955580:935,021...941,081
Ensembl chrNW_004955580:934,798...941,081
JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955580:616,477...636,849
Ensembl chrNW_004955580:616,477...635,597
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979
JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955580:500,712...507,512
Ensembl chrNW_004955580:500,825...507,608
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955580:1,053,823...1,069,802
Ensembl chrNW_004955580:1,053,823...1,069,802
JBrowse link
G Irak1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955580:663,651...668,622
Ensembl chrNW_004955580:661,609...668,622
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955580:548,442...561,580
Ensembl chrNW_004955580:549,368...561,486
JBrowse link
G Lage3 L antigen family member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955580:992,190...993,617
Ensembl chrNW_004955580:992,190...993,617
JBrowse link
G Mecp2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955580:674,014...737,586
Ensembl chrNW_004955580:679,109...735,288
JBrowse link
G Mmp10 matrix metallopeptidase 10 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chrNW_004955412:5,965,388...5,976,353
Ensembl chrNW_004955412:5,965,394...5,976,382
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
JBrowse link
G Mpp1 membrane palmitoylated protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955594:831,100...846,438
Ensembl chrNW_004955594:831,098...846,866
JBrowse link
G Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955580:604,805...609,978
Ensembl chrNW_004955580:603,331...612,608
JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955580:512,963...535,911
Ensembl chrNW_004955580:512,925...535,917
JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10441568 NCBI chrNW_004955424:22,799,568...22,830,718
Ensembl chrNW_004955424:22,799,568...22,830,718
JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12851857 NCBI chrNW_004955454:6,097,251...6,115,430 JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955580:958,033...972,123
Ensembl chrNW_004955580:957,860...972,772
JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955580:482,602...495,628
Ensembl chrNW_004955580:484,805...495,445
JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955580:610,112...615,019
Ensembl chrNW_004955580:609,964...615,027
JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955580:903,618...906,439 JBrowse link
G Slc10a3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955580:1,002,029...1,005,673
Ensembl chrNW_004955580:1,002,029...1,005,673
JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955580:419,696...426,727 JBrowse link
G Smim9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955594:803,406...816,735 JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163
JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955580:496,447...500,709
Ensembl chrNW_004955580:496,451...500,709
JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955580:507,672...511,498
Ensembl chrNW_004955580:507,672...511,498
JBrowse link
G Taz tafazzin ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955580:915,668...921,703
Ensembl chrNW_004955580:915,188...922,791
JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955580:781,339...791,284 JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chrNW_004955516:507,113...511,360
Ensembl chrNW_004955516:505,789...512,118
JBrowse link
G Tktl1 transketolase like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955580:829,653...851,422
Ensembl chrNW_004955580:829,594...851,470
JBrowse link
G Ubl4a ubiquitin like 4A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004955580:998,953...1,001,368
Ensembl chrNW_004955580:997,204...1,001,368
JBrowse link
adult-onset autosomal dominant demyelinating leukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmnb1 lamin B1 ISO OMIM NCBI chrNW_004955521:4,583,691...4,612,271
Ensembl chrNW_004955521:4,583,671...4,612,271
JBrowse link
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf1r colony stimulating factor 1 receptor ISO OMIM NCBI chrNW_004955415:4,434,486...4,462,505
Ensembl chrNW_004955415:4,434,453...4,461,751
JBrowse link
Alexander disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfap glial fibrillary acidic protein ISO OMIM NCBI chrNW_004955451:17,695,835...17,703,894
Ensembl chrNW_004955451:17,695,835...17,703,268
JBrowse link
Alpers-Huttenlocher syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 ISO RGD PMID:20680636 RGD:5148026 NCBI chrNW_004955772:1,160...10,709
Ensembl chrNW_004955772:1,159...10,709
JBrowse link
G Edar ectodysplasin A receptor ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241, PMID:18231121, PMID:20236127, PMID:20979233, PMID:25741868, PMID:28492532 NCBI chrNW_004955470:12,310,680...12,362,555
Ensembl chrNW_004955470:12,309,048...12,362,570
JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type)
ClinVar PMID:15477547, PMID:16177225, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17950645, PMID:17980715, PMID:18414213, PMID:18991199, PMID:19010300, PMID:20691285, PMID:21038416, PMID:21228398, PMID:21880868, PMID:23524600, PMID:23783014, PMID:24033266, PMID:25462018, PMID:25741868, PMID:26104464, PMID:26467025, PMID:27987238, PMID:28492532 NCBI chrNW_004955416:15,788,812...15,857,933
Ensembl chrNW_004955416:15,788,922...15,853,480
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit susceptibility ISO DNA:missense mutation:cds:p.P1073L (3218C>T) (human) OMIM
RGD
PMID:20142534 RGD:15039298 NCBI chrNW_004955416:15,773,005...15,788,736
Ensembl chrNW_004955416:15,773,473...15,788,651
JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar NCBI chrNW_004955416:15,862,510...15,873,261
Ensembl chrNW_004955416:15,862,426...15,873,327
JBrowse link
CADASIL term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htra1 HtrA serine peptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955477:761,127...808,396
Ensembl chrNW_004955477:761,127...808,994
JBrowse link
G Notch3 notch receptor 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
CTD
ClinVar
PMID:15229130, PMID:25741868, PMID:26467025 NCBI chrNW_004955495:8,012,370...8,048,616
Ensembl chrNW_004955495:8,012,502...8,047,710
JBrowse link
CADASIL 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch3 notch receptor 3 ISO OMIM NCBI chrNW_004955495:8,012,370...8,048,616
Ensembl chrNW_004955495:8,012,502...8,047,710
JBrowse link
CADASIL 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htra1 HtrA serine peptidase 1 ISO OMIM NCBI chrNW_004955477:761,127...808,396
Ensembl chrNW_004955477:761,127...808,994
JBrowse link
Canavan disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspa aspartoacylase susceptibility ISO OMIM
RGD
PMID:8252036 RGD:1599291 NCBI chrNW_004955467:13,277,014...13,332,658
Ensembl chrNW_004955467:13,280,254...13,316,114
JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 ISO RGD PMID:19739253 RGD:5686858 NCBI chrNW_004955450:2,631,310...2,663,118
Ensembl chrNW_004955450:2,631,327...2,662,269
JBrowse link
G Ctns cystinosin, lysosomal cystine transporter ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285, PMID:10909858, PMID:28492532 NCBI chrNW_004955467:13,151,663...13,169,005
Ensembl chrNW_004955467:13,151,957...13,168,696
JBrowse link
G Emc6 ER membrane protein complex subunit 6 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285, PMID:10909858, PMID:28492532 NCBI chrNW_004955467:13,144,659...13,146,434
Ensembl chrNW_004955467:13,144,659...13,146,434
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO protein:decreased expression:cerebellum, brain stem RGD PMID:15016427 RGD:6484588 NCBI chrNW_004955510:5,987,811...6,021,001 JBrowse link
G Haspin histone H3 associated protein kinase ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285, PMID:10909858, PMID:28492532 NCBI chrNW_004955467:13,099,958...13,104,337
Ensembl chrNW_004955467:13,078,346...13,104,241
JBrowse link
G Itgae integrin subunit alpha E ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285, PMID:10909858, PMID:28492532 NCBI chrNW_004955467:13,052,920...13,112,896
Ensembl chrNW_004955467:13,042,712...13,114,481
JBrowse link
G P2rx5 purinergic receptor P2X 5 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285, PMID:10909858, PMID:28492532 NCBI chrNW_004955467:13,125,710...13,140,031 JBrowse link
G Shpk sedoheptulokinase ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285, PMID:10909858, PMID:28492532 NCBI chrNW_004955467:13,169,072...13,209,585 JBrowse link
G Spata22 spermatogenesis associated 22 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system
ClinVar Annotator: match by term: Canavan Disease, Familial Form
ClinVar PMID:7599639, PMID:7668285, PMID:8023850, PMID:8037206, PMID:8088831, PMID:8252036, PMID:8659549, PMID:9452117, PMID:9887384, PMID:10407784, PMID:10564886, PMID:10701101, PMID:10704428, PMID:10724099, PMID:10909858, PMID:11238686, PMID:12205125, PMID:12638939, PMID:14567959, PMID:15243987, PMID:16138249, PMID:16217711, PMID:16437572, PMID:16802711, PMID:16854607, PMID:17027983, PMID:17194761, PMID:17391648, PMID:17999961, PMID:18070137, PMID:18978679, PMID:19685155, PMID:20129749, PMID:20301412, PMID:21228398, PMID:21520333, PMID:21907889, PMID:22019069, PMID:22219087, PMID:22611636, PMID:22750302, PMID:22850825, PMID:22878930, PMID:23233226, PMID:23253610, PMID:23971085, PMID:24033266, PMID:25003821, PMID:25107638, PMID:25741868, PMID:26586007, PMID:26992473, PMID:27457812, PMID:27531131, PMID:27927234, PMID:28101991, PMID:28492532 NCBI chrNW_004955467:13,304,314...13,325,228
Ensembl chrNW_004955467:13,306,496...13,325,300
JBrowse link
G Tax1bp3 Tax1 binding protein 3 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285, PMID:10909858, PMID:28492532 NCBI chrNW_004955467:13,146,527...13,151,109
Ensembl chrNW_004955467:13,146,527...13,151,109
JBrowse link
G Trpv1 transient receptor potential cation channel subfamily V member 1 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285, PMID:10909858, PMID:28492532 NCBI chrNW_004955467:13,221,391...13,239,089
Ensembl chrNW_004955467:13,221,391...13,239,089
JBrowse link
G Trpv3 transient receptor potential cation channel subfamily V member 3 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285, PMID:10909858, PMID:28492532 NCBI chrNW_004955467:13,246,099...13,276,741
Ensembl chrNW_004955467:13,248,599...13,276,718
JBrowse link
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htra1 HtrA serine peptidase 1 ISO OMIM NCBI chrNW_004955477:761,127...808,396
Ensembl chrNW_004955477:761,127...808,994
JBrowse link
cerebral folate receptor alpha deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anapc15 anaphase promoting complex subunit 15 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chrNW_004955414:19,218,727...19,222,138
Ensembl chrNW_004955414:19,218,727...19,222,138
JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chrNW_004955422:15,119,155...15,136,771
Ensembl chrNW_004955422:15,119,173...15,136,771
JBrowse link
G Folr1 folate receptor alpha ISO OMIM NCBI chrNW_004955414:19,188,830...19,197,728
Ensembl chrNW_004955414:19,187,388...19,197,728
JBrowse link
G Il18bp interleukin 18 binding protein ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chrNW_004955414:19,327,828...19,332,577 JBrowse link
G Lamtor1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chrNW_004955414:19,228,615...19,235,523
Ensembl chrNW_004955414:19,228,615...19,247,765
JBrowse link
G Nadsyn1 NAD synthetase 1 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chrNW_004955422:15,067,711...15,113,942
Ensembl chrNW_004955422:15,066,708...15,114,049
JBrowse link
G Numa1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chrNW_004955414:19,252,191...19,327,504
Ensembl chrNW_004955414:19,252,191...19,327,504
JBrowse link
G Rnf121 ring finger protein 121 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chrNW_004955414:19,332,670...19,423,711
Ensembl chrNW_004955414:19,332,670...19,423,677
JBrowse link
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hdac6 histone deacetylase 6 ISO OMIM NCBI chrNW_004955543:348,314...378,391
Ensembl chrNW_004955543:348,019...378,071
JBrowse link
Clark-Baraitser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trio trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Clark-Baraitser syndrome ClinVar PMID:25741868 NCBI chrNW_004955426:3,647,273...3,846,916
Ensembl chrNW_004955426:3,646,728...3,846,988
JBrowse link
G Trip12 thyroid hormone receptor interactor 12 ISO OMIM NCBI chrNW_004955453:5,132,776...5,272,250
Ensembl chrNW_004955453:5,134,016...5,271,399
JBrowse link
Cole-Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P4hb prolyl 4-hydroxylase subunit beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cole-Carpenter syndrome
CTD
ClinVar
PMID:25741868 NCBI chrNW_004955506:1,307,932...1,322,011
Ensembl chrNW_004955506:1,307,932...1,324,027
JBrowse link
G Sec24d SEC24 homolog D, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955428:21,381,809...21,475,329
Ensembl chrNW_004955428:21,381,809...21,500,429
JBrowse link
Cole-Carpenter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P4hb prolyl 4-hydroxylase subunit beta ISO OMIM NCBI chrNW_004955506:1,307,932...1,322,011
Ensembl chrNW_004955506:1,307,932...1,324,027
JBrowse link
Cole-Carpenter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sec24d SEC24 homolog D, COPII coat complex component ISO OMIM NCBI chrNW_004955428:21,381,809...21,475,329
Ensembl chrNW_004955428:21,381,809...21,500,429
JBrowse link
communicating hydrocephalus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfia nuclear factor I A ISO ClinVar Annotator: match by term: Communicating hydrocephalus ClinVar PMID:30311386 NCBI chrNW_004955423:27,799,976...28,108,307
Ensembl chrNW_004955423:27,806,873...28,112,268
JBrowse link
G Tmem67 transmembrane protein 67 ISO RGD PMID:30705305 RGD:14995942 NCBI chrNW_004955417:10,097,488...10,137,959
Ensembl chrNW_004955417:10,097,472...10,138,644
JBrowse link
Congenital Communicating Hydrocephalus 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trim71 tripartite motif containing 71 ISO OMIM NCBI chrNW_004955421:97,130...174,326
Ensembl chrNW_004955421:97,772...168,432
JBrowse link
Congenital Hydrocephalus 2, with or without Brain or Eye Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acadm acyl-CoA dehydrogenase medium chain ISO ClinVar Annotator: match by term: Hydrocephalus, congenital, 2, with or without brain or eye anomalies ClinVar PMID:11673361, PMID:19780764, PMID:20434380, PMID:23028790, PMID:24966162, PMID:27308838, PMID:28492532 NCBI chrNW_004955423:17,173,648...17,199,189
Ensembl chrNW_004955423:17,172,779...17,199,090
JBrowse link
G Mpdz multiple PDZ domain crumbs cell polarity complex component ISO OMIM NCBI chrNW_004955434:16,284,123...16,431,853
Ensembl chrNW_004955434:16,284,123...16,418,092
JBrowse link
Congenital Hydrocephalus 3, with Brain Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr81 WD repeat domain 81 ISO OMIM NCBI chrNW_004955481:1,450,127...1,462,564
Ensembl chrNW_004955481:1,449,350...1,462,555
JBrowse link
Dandy Walker Cyst term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Dandy-Walker cyst ClinVar PMID:4386970, PMID:5771505, PMID:16372351, PMID:16523510, PMID:16804887, PMID:16825433, PMID:17551924, PMID:18039235, PMID:18413255, PMID:19206169, PMID:23875798, PMID:24033266, PMID:31474318 NCBI chrNW_004955494:2,567,238...2,712,708 JBrowse link
Dandy-Walker syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Armc9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:28492532, PMID:28625504, PMID:31474318 NCBI chrNW_004955453:4,202,540...4,294,548
Ensembl chrNW_004955453:4,203,941...4,294,548
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Dandy-Walker malformation ClinVar PMID:4386970, PMID:5771505, PMID:16372351, PMID:16523510, PMID:16804887, PMID:16825433, PMID:17551924, PMID:18039235, PMID:18413255, PMID:19206169, PMID:23875798, PMID:24033266, PMID:31474318 NCBI chrNW_004955494:2,567,238...2,712,708 JBrowse link
G Chn1 chimerin 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chrNW_004955449:574,407...635,566 JBrowse link
G Dph1 diphthamide biosynthesis 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25558065 NCBI chrNW_004955481:1,194,428...1,205,231
Ensembl chrNW_004955481:1,194,428...1,205,231
JBrowse link
G Dpysl5 dihydropyrimidinase like 5 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chrNW_004955469:8,838,167...8,920,991
Ensembl chrNW_004955469:8,838,888...8,922,388
JBrowse link
G Hyls1 HYLS1 centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chrNW_004955412:26,937,460...26,949,571
Ensembl chrNW_004955412:26,937,654...26,951,636
JBrowse link
G Kiaa1109 KIAA1109 ortholog ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25558065 NCBI chrNW_004955428:18,224,987...18,424,425
Ensembl chrNW_004955428:18,224,987...18,424,425
JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chrNW_004955542:756,834...832,805
Ensembl chrNW_004955542:756,835...832,889
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chrNW_004955500:7,850,782...7,891,703
Ensembl chrNW_004955500:7,853,292...7,886,067
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:7562969, PMID:8062435, PMID:11772994, PMID:28492532, PMID:30311386 NCBI chrNW_004955580:548,442...561,580
Ensembl chrNW_004955580:549,368...561,486
JBrowse link
G Maged2 MAGE family member D2 ISO ClinVar Annotator: match by term: Dandy-Walker cyst ClinVar NCBI chrNW_004955475:2,038,189...2,046,240
Ensembl chrNW_004955475:2,038,189...2,046,290
JBrowse link
G Mid1 midline 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chrNW_004955544:2,379,766...2,718,282
Ensembl chrNW_004955544:2,484,854...2,719,112
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:7678051, PMID:9211853, PMID:11341328, PMID:15284236, PMID:17499702, PMID:17656670, PMID:19047372, PMID:20124286, PMID:21194675, PMID:21437241, PMID:22209699, PMID:23255827, PMID:23731537, PMID:23731542, PMID:24065723, PMID:24796542, PMID:25158255, PMID:25391964, PMID:25454926, PMID:25803852, PMID:26279204, PMID:26279649, PMID:26455322, PMID:26971580, PMID:28334876, PMID:29226947, PMID:31474318 NCBI chrNW_004955415:4,365,848...4,403,317
Ensembl chrNW_004955415:4,365,743...4,403,587
JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:30858804, PMID:31474318 NCBI chrNW_004955404:33,713,903...33,897,622
Ensembl chrNW_004955404:33,714,193...33,897,622
JBrowse link
G Ppp1cb protein phosphatase 1 catalytic subunit beta ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868, PMID:25741869, PMID:27264673, PMID:27681385, PMID:27868344, PMID:28211982, PMID:28492532, PMID:31474318 NCBI chrNW_004955469:10,657,029...10,682,398
Ensembl chrNW_004955469:10,662,032...10,682,398
JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chrNW_004955412:26,941,837...26,951,524
Ensembl chrNW_004955412:26,942,082...26,945,624
JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chrNW_004955420:25,070,626...25,178,410
Ensembl chrNW_004955420:25,090,798...25,177,760
JBrowse link
G Tmem47 transmembrane protein 47 ISO ClinVar Annotator: match by term: Dandy-Walker cyst ClinVar NCBI chrNW_004955571:1,192,213...1,222,057
Ensembl chrNW_004955571:1,191,700...1,222,309
JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chrNW_004955514:3,902,508...3,924,281
Ensembl chrNW_004955514:3,902,454...3,924,610
JBrowse link
G Zic1 Zic family member 1 ISO RGD PMID:15338008 RGD:1599905 NCBI chrNW_004955474:10,029,226...10,033,104
Ensembl chrNW_004955474:10,029,174...10,033,380
JBrowse link
hydrocephalus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adar adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:30311386 NCBI chrNW_004955545:1,078,319...1,106,938
Ensembl chrNW_004955545:1,078,319...1,106,938
JBrowse link
G Aqp1 aquaporin 1 (Colton blood group) disease_progression ISO RGD PMID:21135737 RGD:5148011 NCBI chrNW_004955410:32,066,196...32,078,661 JBrowse link
G Aqp4 aquaporin 4 disease_progression ISO RGD PMID:21135737 RGD:5148011 NCBI chrNW_004955772:1,160...10,709
Ensembl chrNW_004955772:1,159...10,709
JBrowse link
G Arid1b AT-rich interaction domain 1B ISO RGD PMID:28867767 RGD:13439722 NCBI chrNW_004955439:5,041,111...5,454,692
Ensembl chrNW_004955439:5,043,967...5,412,741
JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:22842232, PMID:25741868, PMID:26297560, PMID:26410222, PMID:28492532 NCBI chrNW_004955555:869,508...892,510 JBrowse link
G Bok BCL2 family apoptosis regulator BOK ISO mRNA:increased expression:brain:Hydrocephalus-Texas (HTX, RS:0000399) vs. SD (RS:0000681) rats RGD PMID:15964663 RGD:1624238 NCBI chrNW_004955542:224,471...232,401
Ensembl chrNW_004955542:224,471...232,428
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:16439621, PMID:18039235, PMID:18413255, PMID:19376813, PMID:24033266, PMID:25463315, PMID:25741868, PMID:26619011, PMID:28492532, PMID:30311386 NCBI chrNW_004955494:2,567,238...2,712,708 JBrowse link
G Brca1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:7837387, PMID:8644702, PMID:9663595, PMID:12393792, PMID:12566964, PMID:15024741, PMID:15383404, PMID:15876480, PMID:18763032, PMID:18783588, PMID:20373018, PMID:21232165, PMID:21989927, PMID:23199084, PMID:23683081, PMID:24033266, PMID:24312913, PMID:24504028, PMID:25330149, PMID:25682074, PMID:25741868, PMID:25948282, PMID:26083025, PMID:26219728, PMID:26295337, PMID:26467025, PMID:26852130, PMID:27741520, PMID:28324225, PMID:28492532, PMID:29335924, PMID:30311386, PMID:30606148 NCBI chrNW_004955451:16,819,463...16,870,780 JBrowse link
G Ccdc88c coiled-coil domain containing 88C ISO OMIM NCBI chrNW_004955438:13,585,469...13,708,170 JBrowse link
G Ccnd2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chrNW_004955413:2,083,351...2,108,450 JBrowse link
G Cdk8 cyclin dependent kinase 8 ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:25741868 NCBI chrNW_004955497:5,781,237...5,908,072
Ensembl chrNW_004955497:5,781,237...5,908,374
JBrowse link
G Cplane1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Hydrocephaly ClinVar PMID:25407461, PMID:25741868, PMID:26092869, PMID:28125082, PMID:28492532, PMID:30311386 NCBI chrNW_004955426:21,867,876...21,991,889
Ensembl chrNW_004955426:21,868,017...21,983,747
JBrowse link
G Crppa CDP-L-ribitol pyrophosphorylase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22522421 NCBI chrNW_004955410:19,359,495...19,614,283
Ensembl chrNW_004955410:19,359,868...19,614,344
JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Hydrocephalus ClinVar NCBI chrNW_004955495:2,174,802...2,216,424
Ensembl chrNW_004955495:2,174,966...2,216,423
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:30311386 NCBI chrNW_004955426:22,386,613...22,412,324
Ensembl chrNW_004955426:22,386,450...22,412,324
JBrowse link
G Gldc glycine decarboxylase ISO RGD PMID:25736695 RGD:12904662 NCBI chrNW_004955434:10,431,434...10,533,118
Ensembl chrNW_004955434:10,431,983...10,533,002
JBrowse link
G Hmgb1 high mobility group box 1 ISO RGD PMID:22116431 RGD:10402405 NCBI chrNW_004955431:15,373,207...15,377,339 JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:15964663 RGD:1624238 NCBI chrNW_004955403:3,062,724...3,073,419 JBrowse link
G Hydin HYDIN axonemal central pair apparatus protein ISO CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation:exon (mouse)
CTD
RGD
PMID:12719380, PMID:19029900 RGD:634487 NCBI chrNW_004955484:3,567,896...3,948,807
Ensembl chrNW_004955484:3,567,396...3,949,261
JBrowse link
G Ift122 intraflagellar transport 122 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20493458 NCBI chrNW_004955429:17,795,757...17,858,609
Ensembl chrNW_004955429:17,794,879...17,858,609
JBrowse link
G Itgb1 integrin subunit beta 1 ISO RGD PMID:19726708 RGD:2325325 NCBI chrNW_004955462:4,454,809...4,483,227
Ensembl chrNW_004955462:4,454,809...4,484,842
JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Hydrocephalus ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004955513:4,712,772...4,765,657
Ensembl chrNW_004955513:4,712,516...4,765,657
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: X-linked hydrocephalus ClinVar PMID:7881431, PMID:9300653, PMID:25741868, PMID:31680349 NCBI chrNW_004955580:548,442...561,580
Ensembl chrNW_004955580:549,368...561,486
JBrowse link
G Llgl1 LLGL scribble cell polarity complex component 1 ISO RGD PMID:15037549 RGD:1300301 NCBI chrNW_004955478:11,075,399...11,089,818
Ensembl chrNW_004955478:11,075,399...11,089,839
JBrowse link
G Man1b1 mannosidase alpha class 1B member 1 ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chrNW_004955513:5,109,651...5,122,568
Ensembl chrNW_004955513:5,111,046...5,122,442
JBrowse link
G Mpdz multiple PDZ domain crumbs cell polarity complex component ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:24033266, PMID:28492532 NCBI chrNW_004955434:16,284,123...16,431,853
Ensembl chrNW_004955434:16,284,123...16,418,092
JBrowse link
G Nin ninein ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:30311386 NCBI chrNW_004955409:12,074,895...12,174,899
Ensembl chrNW_004955409:12,075,543...12,174,977
JBrowse link
G Ntf3 neurotrophin 3 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:11580868 RGD:1358755 NCBI chrNW_004955413:3,207,669...3,273,371
Ensembl chrNW_004955413:3,207,123...3,273,491
JBrowse link
G Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Hydrocephaly ClinVar PMID:25741868 NCBI chrNW_004955486:1,967,771...1,990,561
Ensembl chrNW_004955486:1,967,167...1,990,561
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO mRNA:decreased expression:brain:Hydrocephalus-Texas (HTX, RS:0000399) vs. SD (RS:0000681) rats RGD PMID:15964663 RGD:1624238 NCBI chrNW_004955413:30,306,563...30,366,245
Ensembl chrNW_004955413:30,307,219...30,359,500
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:28492532, PMID:29983323 NCBI chrNW_004955422:22,362,330...22,418,062
Ensembl chrNW_004955422:22,362,221...22,427,622
JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:31474318 NCBI chrNW_004955420:25,070,626...25,178,410
Ensembl chrNW_004955420:25,090,798...25,177,760
JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27399968 NCBI chrNW_004955450:2,804,551...2,870,450
Ensembl chrNW_004955450:2,808,130...2,870,450
JBrowse link
G Smarcc1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:29983323 NCBI chrNW_004955420:24,594,057...24,729,108
Ensembl chrNW_004955420:24,593,830...24,729,108
JBrowse link
G Tmem67 transmembrane protein 67 ISO RGD PMID:30705305 RGD:14995942 NCBI chrNW_004955417:10,097,488...10,137,959
Ensembl chrNW_004955417:10,097,472...10,138,644
JBrowse link
G Trim71 tripartite motif containing 71 ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:29983323 NCBI chrNW_004955421:97,130...174,326
Ensembl chrNW_004955421:97,772...168,432
JBrowse link
G Wdr37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:31327508, PMID:31327510, PMID:31474318 NCBI chrNW_004955421:30,097,046...30,161,762
Ensembl chrNW_004955421:30,068,306...30,161,762
JBrowse link
hydrolethalus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hyls1 HYLS1 centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Hydrolethalus syndrome ClinVar PMID:15843405, PMID:18648327, PMID:19400947, PMID:19656802, PMID:25741868, PMID:28492532 NCBI chrNW_004955412:26,937,460...26,949,571
Ensembl chrNW_004955412:26,937,654...26,951,636
JBrowse link
G Kif7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21552264 NCBI chrNW_004955416:15,555,959...15,570,925
Ensembl chrNW_004955416:15,555,933...15,570,985
JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Hydrolethalus syndrome ClinVar PMID:15843405, PMID:18648327, PMID:19400947, PMID:19656802, PMID:25741868, PMID:28492532 NCBI chrNW_004955412:26,941,837...26,951,524
Ensembl chrNW_004955412:26,942,082...26,945,624
JBrowse link
hydrolethalus syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hyls1 HYLS1 centriolar and ciliogenesis associated ISO OMIM NCBI chrNW_004955412:26,937,460...26,949,571
Ensembl chrNW_004955412:26,937,654...26,951,636
JBrowse link
G Kif7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955416:15,555,959...15,570,925
Ensembl chrNW_004955416:15,555,933...15,570,985
JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Hydrolethalus syndrome 1 ClinVar PMID:15843405, PMID:18648327, PMID:19400947, PMID:19656802, PMID:25741868, PMID:28492532 NCBI chrNW_004955412:26,941,837...26,951,524
Ensembl chrNW_004955412:26,942,082...26,945,624
JBrowse link
hydrolethalus syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif7 kinesin family member 7 ISO OMIM NCBI chrNW_004955416:15,555,959...15,570,925
Ensembl chrNW_004955416:15,555,933...15,570,985
JBrowse link
hypomyelinating leukodystrophy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO OMIM NCBI chrNW_004955489:138,600...143,112 JBrowse link
hypomyelinating leukodystrophy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1c RNA polymerase I and III subunit C ISO OMIM NCBI chrNW_004955437:9,346,397...9,350,591
Ensembl chrNW_004955437:9,346,397...9,350,591
JBrowse link
hypomyelinating leukodystrophy 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO OMIM NCBI chrNW_004955412:20,161,520...20,190,141
Ensembl chrNW_004955412:20,177,623...20,190,141
JBrowse link
hypomyelinating leukodystrophy 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hikeshi heat shock protein nuclear import factor hikeshi ISO OMIM NCBI chrNW_004955414:6,632,434...6,656,633
Ensembl chrNW_004955414:6,628,216...6,656,633
JBrowse link
hypomyelinating leukodystrophy 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ufm1 ubiquitin fold modifier 1 ISO OMIM NCBI chrNW_004955431:7,860,706...7,872,972 JBrowse link
Hypomyelinating Leukodystrophy 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO OMIM NCBI chrNW_004955520:3,550,558...3,606,015
Ensembl chrNW_004955520:3,550,558...3,606,697
JBrowse link
Hypomyelinating Leukodystrophy 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem106b transmembrane protein 106B ISO OMIM NCBI chrNW_004955432:18,619,418...18,644,876
Ensembl chrNW_004955432:18,619,413...18,639,151
JBrowse link
Hypomyelinating Leukodystrophy 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aimp2 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 ISO OMIM NCBI chrNW_004955460:13,754,487...13,762,726
Ensembl chrNW_004955460:13,754,487...13,762,726
JBrowse link
Hypomyelinating Leukodystrophy 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Degs1 delta 4-desaturase, sphingolipid 1 ISO OMIM NCBI chrNW_004955520:1,139,568...1,143,149
Ensembl chrNW_004955520:1,135,563...1,143,192
JBrowse link
hypomyelinating leukodystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjc2 gap junction protein gamma 2 ISO OMIM NCBI chrNW_004955581:291,537...294,752 JBrowse link
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 2 ClinVar PMID:25356970 NCBI chrNW_004955442:19,419,381...19,446,782
Ensembl chrNW_004955442:19,419,821...19,446,665
JBrowse link
Hypomyelinating Leukodystrophy 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase ISO OMIM NCBI chrNW_004955451:16,115,137...16,119,261
Ensembl chrNW_004955451:16,114,454...16,118,622
JBrowse link
hypomyelinating leukodystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aimp1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 ISO OMIM NCBI chrNW_004955496:3,073,480...3,108,012
Ensembl chrNW_004955496:3,072,341...3,108,672
JBrowse link
hypomyelinating leukodystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO OMIM NCBI chrNW_004955403:3,062,724...3,073,419 JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 4 ClinVar PMID:29389947 NCBI chrNW_004955437:14,446,059...14,483,336
Ensembl chrNW_004955437:14,446,024...14,483,336
JBrowse link
hypomyelinating leukodystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam126a family with sequence similarity 126 member A ISO OMIM NCBI chrNW_004955410:25,274,360...25,342,112
Ensembl chrNW_004955410:25,227,280...25,342,106
JBrowse link
hypomyelinating leukodystrophy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb4a tubulin beta 4A class IVa ISO OMIM NCBI chrNW_004955495:3,134,181...3,138,725
Ensembl chrNW_004955495:3,133,429...3,139,552
JBrowse link
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7 ClinVar PMID:25741868 NCBI chrNW_004955446:17,146,915...17,457,843
Ensembl chrNW_004955446:17,151,311...17,457,888
JBrowse link
G Polr3a RNA polymerase III subunit A ISO OMIM NCBI chrNW_004955437:14,446,059...14,483,336
Ensembl chrNW_004955437:14,446,024...14,483,336
JBrowse link
G Polr3b RNA polymerase III subunit B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pol III-related leukodystrophy
CTD
ClinVar
PMID:22036172, PMID:23355746, PMID:25339210, PMID:25741868, PMID:26204956 NCBI chrNW_004955405:40,353,289...40,451,445
Ensembl chrNW_004955405:40,353,281...40,451,479
JBrowse link
G Rps24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7
ClinVar Annotator: match by term: Pol III-related leukodystrophy
ClinVar PMID:25741868, PMID:27029625 NCBI chrNW_004955437:14,435,822...14,442,662 JBrowse link
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH HYPODONTIA AND HYPOGONADOTROPIC HYPOGONADISM ClinVar PMID:14612911, PMID:15087378, PMID:17721994, PMID:18571837, PMID:21244692, PMID:23960188, PMID:24390236, PMID:25186627, PMID:25231023, PMID:25326637, PMID:25741868, PMID:26467025, PMID:26787654, PMID:27153395, PMID:27443514, PMID:27595995, PMID:27878467, PMID:28492532, PMID:28553140, PMID:28828701, PMID:29335925, PMID:30851065 NCBI chrNW_004955455:2,969,113...3,008,004
Ensembl chrNW_004955455:2,969,270...3,003,173
JBrowse link
G Polr3b RNA polymerase III subunit B ISO OMIM NCBI chrNW_004955405:40,353,289...40,451,445
Ensembl chrNW_004955405:40,353,281...40,451,479
JBrowse link
hypomyelinating leukodystrophy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rars1 arginyl-tRNA synthetase 1 ISO OMIM NCBI chrNW_004955408:21,536,426...21,574,683 JBrowse link
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pank2 pantothenate kinase 2 ISO OMIM NCBI chrNW_004955415:14,722,951...14,752,493
Ensembl chrNW_004955415:14,723,087...14,751,423
JBrowse link
Karak Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Karak syndrome ClinVar PMID:16783378 NCBI chrNW_004955413:24,431,592...24,482,229
Ensembl chrNW_004955413:24,429,589...24,482,537
JBrowse link
leukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor mitochondria associated 1 ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:30311386 NCBI chrNW_004955473:4,891,955...4,925,705
Ensembl chrNW_004955473:4,891,955...4,926,428
JBrowse link
G Alms1 ALMS1 centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:24462884, PMID:26104972, PMID:28492532, PMID:32581362 NCBI chrNW_004955424:12,130,496...12,258,684
Ensembl chrNW_004955424:12,130,607...12,258,522
JBrowse link
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:1671769, PMID:1684088, PMID:7866401, PMID:8723680, PMID:9096767, PMID:9600244, PMID:10381328, PMID:12081727, PMID:12809637, PMID:14517960, PMID:15952986, PMID:18693274, PMID:20339381, PMID:23581857, PMID:23701968, PMID:24001781, PMID:25741868, PMID:26462614, PMID:26890752, PMID:28492532, PMID:30311386 NCBI chrNW_004955413:33,624,460...33,629,491
Ensembl chrNW_004955413:33,623,525...33,629,771
JBrowse link
G Degs1 delta 4-desaturase, sphingolipid 1 ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868, PMID:30620337, PMID:31186544 NCBI chrNW_004955520:1,139,568...1,143,149
Ensembl chrNW_004955520:1,135,563...1,143,192
JBrowse link
G Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868 NCBI chrNW_004955420:23,313,405...23,322,748
Ensembl chrNW_004955420:23,309,378...23,322,698
JBrowse link
G Galc galactosylceramidase ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:8940268, PMID:9338580, PMID:16607461, PMID:20410102, PMID:20886637, PMID:22520351, PMID:25741868, PMID:26108647, PMID:27442402, PMID:27638593, PMID:28492532, PMID:29286531, PMID:30311386 NCBI chrNW_004955438:10,667,807...10,704,386
Ensembl chrNW_004955438:10,667,807...10,704,384
JBrowse link
G Kars1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868 NCBI chrNW_004955484:1,924,523...1,939,777
Ensembl chrNW_004955484:1,924,523...1,940,552
JBrowse link
G Men1 menin 1 ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:12652570, PMID:23321498, PMID:25741868, PMID:28492532 NCBI chrNW_004955422:20,356,491...20,363,374
Ensembl chrNW_004955422:20,356,491...20,363,575
JBrowse link
G Mlc1 modulator of VRAC current 1 ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:11254442, PMID:11935341, PMID:30311386 NCBI chrNW_004955413:33,120,426...33,142,149
Ensembl chrNW_004955413:33,119,218...33,142,149
JBrowse link
G Psen1 presenilin 1 ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868, PMID:30311386, PMID:31153663 NCBI chrNW_004955523:2,128,529...2,210,737
Ensembl chrNW_004955523:2,128,529...2,210,737
JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:30311386 NCBI chrNW_004955473:4,875,230...4,891,898
Ensembl chrNW_004955473:4,875,202...4,887,177
JBrowse link
G Sptbn2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:30311386 NCBI chrNW_004955422:18,659,489...18,699,338
Ensembl chrNW_004955422:18,659,489...18,699,338
JBrowse link
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dll3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by term: Leukodystrophy and acquired microcephaly with or without dystonia ClinVar PMID:25741868 NCBI chrNW_004955468:70,714...78,831
Ensembl chrNW_004955468:71,004...78,827
JBrowse link
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 ISO OMIM NCBI chrNW_004955468:138,262...149,480
Ensembl chrNW_004955468:138,542...149,686
JBrowse link
leukoencephalopathy with vanishing white matter term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter ClinVar PMID:25741868 NCBI chrNW_004955489:8,360,027...8,459,309
Ensembl chrNW_004955489:8,360,072...8,459,377
JBrowse link
G Eif2b1 eukaryotic translation initiation factor 2B subunit alpha ISO OMIM NCBI chrNW_004955482:5,380,121...5,388,588
Ensembl chrNW_004955482:5,380,121...5,388,588
JBrowse link
G Eif2b2 eukaryotic translation initiation factor 2B subunit beta ISO OMIM NCBI chrNW_004955523:553,356...559,376
Ensembl chrNW_004955523:553,356...559,376
JBrowse link
G Eif2b3 eukaryotic translation initiation factor 2B subunit gamma ISO OMIM NCBI chrNW_004955464:13,254,228...13,378,832
Ensembl chrNW_004955464:13,254,228...13,378,832
JBrowse link
G Eif2b4 eukaryotic translation initiation factor 2B subunit delta ISO OMIM NCBI chrNW_004955469:9,328,900...9,334,463
Ensembl chrNW_004955469:9,328,943...9,334,315
JBrowse link
G Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon ISO OMIM NCBI chrNW_004955420:23,313,405...23,322,748
Ensembl chrNW_004955420:23,309,378...23,322,698
JBrowse link
G Mlh3 mutL homolog 3 ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter ClinVar PMID:25741868 NCBI chrNW_004955523:515,409...547,257
Ensembl chrNW_004955523:518,565...546,410
JBrowse link
Meckel syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp3 nephrocystin 3 ISO OMIM NCBI chrNW_004955501:5,799,879...5,837,022 JBrowse link
megalencephalic leukoencephalopathy with subcortical cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hepacam hepatic and glial cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts
CTD
ClinVar
PMID:21419380, PMID:25741868, PMID:28492532 NCBI chrNW_004955412:25,981,235...25,998,296
Ensembl chrNW_004955412:25,980,460...25,998,482
JBrowse link
G Mlc1 modulator of VRAC current 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts
CTD
ClinVar
PMID:11254442, PMID:25741868 NCBI chrNW_004955413:33,120,426...33,142,149
Ensembl chrNW_004955413:33,119,218...33,142,149
JBrowse link
megalencephalic leukoencephalopathy with subcortical cysts 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hepacam hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 ClinVar PMID:25741868, PMID:29389947 NCBI chrNW_004955412:25,981,235...25,998,296
Ensembl chrNW_004955412:25,980,460...25,998,482
JBrowse link
G Mlc1 modulator of VRAC current 1 ISO OMIM NCBI chrNW_004955413:33,120,426...33,142,149
Ensembl chrNW_004955413:33,119,218...33,142,149
JBrowse link
megalencephalic leukoencephalopathy with subcortical cysts 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hepacam hepatic and glial cell adhesion molecule ISO OMIM NCBI chrNW_004955412:25,981,235...25,998,296
Ensembl chrNW_004955412:25,980,460...25,998,482
JBrowse link
megalencephalic leukoencephalopathy with subcortical cysts 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hepacam hepatic and glial cell adhesion molecule ISO OMIM NCBI chrNW_004955412:25,981,235...25,998,296
Ensembl chrNW_004955412:25,980,460...25,998,482
JBrowse link
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt3 AKT serine/threonine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22729224 NCBI chrNW_004955406:6,907,876...7,163,672 JBrowse link
G Ccnd2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24705253, PMID:29642246 NCBI chrNW_004955413:2,083,351...2,108,450 JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22729224 NCBI chrNW_004955420:8,355,415...8,427,024
Ensembl chrNW_004955420:8,356,353...8,427,024
JBrowse link
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME
CTD
ClinVar
PMID:16357568, PMID:21984976, PMID:22729224, PMID:22989095, PMID:23449172, PMID:23592320, PMID:23606607, PMID:23619167, PMID:23745724, PMID:24497998, PMID:25741868, PMID:26520804, PMID:26860062, PMID:27854409, PMID:28086757, PMID:28492532, PMID:28502725, PMID:30311386 NCBI chrNW_004955524:3,234,111...3,241,445 JBrowse link
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 ISO OMIM NCBI chrNW_004955524:3,234,111...3,241,445 JBrowse link
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt3 AKT serine/threonine kinase 3 ISO OMIM NCBI chrNW_004955406:6,907,876...7,163,672 JBrowse link
G Cep170 centrosomal protein 170 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chrNW_004955406:6,588,504...6,695,246
Ensembl chrNW_004955406:6,590,490...6,670,077
JBrowse link
G LOC102005664 chromosome unknown open reading frame, human C1orf100 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chrNW_004955406:7,651,785...7,682,027
Ensembl chrNW_004955406:7,651,769...7,682,036
JBrowse link
G Pld5 phospholipase D family member 5 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chrNW_004955406:5,810,286...5,994,601
Ensembl chrNW_004955406:5,816,926...6,138,579
JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chrNW_004955406:6,694,687...6,909,555
Ensembl chrNW_004955406:6,695,051...6,909,555
JBrowse link
G Zbtb18 zinc finger and BTB domain containing 18 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chrNW_004955406:7,364,080...7,372,038
Ensembl chrNW_004955406:7,364,080...7,373,483
JBrowse link
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnd2 cyclin D2 ISO OMIM NCBI chrNW_004955413:2,083,351...2,108,450 JBrowse link
neuroaxonal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ireb2 iron responsive element binding protein 2 ISO protein:increased expression:brain (mouse) RGD PMID:26506412 RGD:11344088 NCBI chrNW_004955450:852,554...898,908
Ensembl chrNW_004955450:852,554...900,011
JBrowse link
G Naga alpha-N-acetylgalactosaminidase ISO CTD Direct Evidence: marker/mechanism
Schindler disease, OMIM:609241, DNA:point mutation:exon:E325K
CTD
RGD
PMID:2243144 RGD:1600557 NCBI chrNW_004955413:27,463,931...27,472,273
Ensembl chrNW_004955413:27,461,998...27,472,273
JBrowse link
G Pla2g6 phospholipase A2 group VI ISO DNA:deletion:cds:p.V691del (human)
DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple
DNA:point mutation:cds
DNA:insertion:intron (mouse)
RGD PMID:17033970, PMID:18305254, PMID:19138334, PMID:19893029, PMID:22442204 RGD:6482732, RGD:6482735, RGD:6482736, RGD:6482739, RGD:6482740 NCBI chrNW_004955413:24,431,592...24,482,229
Ensembl chrNW_004955413:24,429,589...24,482,537
JBrowse link
G Tecpr2 tectonin beta-propeller repeat containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26555167 NCBI chrNW_004955538:1,658,177...1,733,334
Ensembl chrNW_004955538:1,661,680...1,732,031
JBrowse link
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO DNA:deletion RGD PMID:11555633 RGD:1302546 NCBI chrNW_004955443:6,367,519...6,379,638
Ensembl chrNW_004955443:6,367,460...6,380,462
JBrowse link
G Uchl3 ubiquitin C-terminal hydrolase L3 ISO RGD PMID:11555633 RGD:1302546 NCBI chrNW_004955404:31,414,076...31,465,205
Ensembl chrNW_004955404:31,414,208...31,464,968
JBrowse link
neurodegeneration with brain iron accumulation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars2 alanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Iron accumulation in brain ClinVar PMID:32581362 NCBI chrNW_004955437:9,915,371...9,924,886
Ensembl chrNW_004955437:9,913,867...9,924,886
JBrowse link
G Crat carnitine O-acetyltransferase ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:25741868, PMID:29395073 NCBI chrNW_004955570:1,417,608...1,428,720
Ensembl chrNW_004955570:1,417,608...1,428,720
JBrowse link
G Pank2 pantothenate kinase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Iron accumulation in brain
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 1, atypical
CTD
ClinVar
PMID:11479594, PMID:12510040, PMID:15565311, PMID:15659606, PMID:15834858, PMID:16272150, PMID:16437574, PMID:16450344, PMID:20629144, PMID:22221393, PMID:22416811, PMID:23968566, PMID:24075960, PMID:24215330, PMID:24348190, PMID:25741868, PMID:25802776, PMID:26087139, PMID:26795593, PMID:27185474, PMID:28492532, PMID:28708303, PMID:28781879, PMID:29590070, PMID:30311386 NCBI chrNW_004955415:14,722,951...14,752,493
Ensembl chrNW_004955415:14,723,087...14,751,423
JBrowse link
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Iron accumulation in brain
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
ClinVar PMID:10227637, PMID:12843330, PMID:16783378, PMID:17033970, PMID:18359254, PMID:18414213, PMID:18443314, PMID:18570303, PMID:18799783, PMID:19138334, PMID:19893029, PMID:20301718, PMID:20584031, PMID:20619503, PMID:20886109, PMID:20938027, PMID:20947703, PMID:22934738, PMID:24033266, PMID:24108619, PMID:24130795, PMID:24745848, PMID:24800972, PMID:24847269, PMID:25164370, PMID:25326635, PMID:25326637, PMID:25558065, PMID:25741868, PMID:26668131, PMID:27196560, PMID:27378808, PMID:28492532, PMID:29472584, PMID:29915382, PMID:30340910, PMID:30619057 NCBI chrNW_004955413:24,431,592...24,482,229
Ensembl chrNW_004955413:24,429,589...24,482,537
JBrowse link
G Reps1 RALBP1 associated Eps domain containing 1 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:29395073 NCBI chrNW_004955436:20,677,676...20,752,842
Ensembl chrNW_004955436:20,713,655...20,752,842
JBrowse link
G Wdr45 WD repeat domain 45 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
CTD
ClinVar
PMID:23176820, PMID:23435086, PMID:24368176, PMID:24621584, PMID:25741868, PMID:25744623, PMID:28492532, PMID:28711740 NCBI chrNW_004955543:597,796...604,163
Ensembl chrNW_004955543:597,814...603,963
JBrowse link
neurodegeneration with brain iron accumulation 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pla2g6 phospholipase A2 group VI ISO OMIM NCBI chrNW_004955413:24,431,592...24,482,229
Ensembl chrNW_004955413:24,429,589...24,482,537
JBrowse link
neurodegeneration with brain iron accumulation 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pla2g6 phospholipase A2 group VI ISO OMIM NCBI chrNW_004955413:24,431,592...24,482,229
Ensembl chrNW_004955413:24,429,589...24,482,537
JBrowse link
neurodegeneration with brain iron accumulation 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ftl ferritin light chain ISO OMIM NCBI chrNW_004955559:1,691,722...1,693,381 JBrowse link
G Gys1 glycogen synthase 1 ISO ClinVar Annotator: match by term: Neuroferritinopathy ClinVar PMID:17182944, PMID:18414213, PMID:25741868, PMID:28492532 NCBI chrNW_004955559:1,674,969...1,690,098
Ensembl chrNW_004955559:1,674,969...1,690,098
JBrowse link
neurodegeneration with brain iron accumulation 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC102011427 chromosome unknown open reading frame, human C19orf12 ISO OMIM NCBI chrNW_004955468:7,903,438...7,914,038
Ensembl chrNW_004955468:7,903,432...7,914,038
JBrowse link
neurodegeneration with brain iron accumulation 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otud5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar NCBI chrNW_004955543:452,172...484,564
Ensembl chrNW_004955543:452,121...484,560
JBrowse link
G Wdr45 WD repeat domain 45 ISO OMIM NCBI chrNW_004955543:597,796...604,163
Ensembl chrNW_004955543:597,814...603,963
JBrowse link
neurodegeneration with brain iron accumulation 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coasy Coenzyme A synthase ISO OMIM NCBI chrNW_004955451:16,457,707...16,460,631
Ensembl chrNW_004955451:16,457,707...16,460,631
JBrowse link
Neurodegeneration with Brain Iron Accumulation 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Reps1 RALBP1 associated Eps domain containing 1 ISO OMIM NCBI chrNW_004955436:20,677,676...20,752,842
Ensembl chrNW_004955436:20,713,655...20,752,842
JBrowse link
Neurodegeneration with Brain Iron Accumulation 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crat carnitine O-acetyltransferase ISO OMIM NCBI chrNW_004955570:1,417,608...1,428,720
Ensembl chrNW_004955570:1,417,608...1,428,720
JBrowse link
normal pressure hydrocephalus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap43 cilia and flagella associated protein 43 ISO OMIM NCBI chrNW_004955485:6,418,063...6,515,730
Ensembl chrNW_004955485:6,451,004...6,515,532
JBrowse link
G Pmpca peptidase, mitochondrial processing alpha subunit ISO ClinVar Annotator: match by term: Normal pressure hydrocephalus ClinVar PMID:10528257, PMID:25808372 NCBI chrNW_004955513:4,315,159...4,322,609
Ensembl chrNW_004955513:4,315,159...4,322,609
JBrowse link
pantothenate kinase-associated neurodegeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pank2 pantothenate kinase 2 ISO OMIM NCBI chrNW_004955415:14,722,951...14,752,493
Ensembl chrNW_004955415:14,723,087...14,751,423
JBrowse link
G Snca synuclein alpha ISO RGD PMID:10934140 RGD:6480098 NCBI chrNW_004955405:854,011...962,741
Ensembl chrNW_004955405:853,946...965,403
JBrowse link
G Sncb synuclein beta ISO RGD PMID:10934140 RGD:6480098 NCBI chrNW_004955408:28,894,204...28,903,095
Ensembl chrNW_004955408:28,894,204...28,903,095
JBrowse link
G Sncg synuclein gamma ISO RGD PMID:10934140 RGD:6480098 NCBI chrNW_004955510:5,958,276...5,961,719
Ensembl chrNW_004955510:5,958,276...5,961,719
JBrowse link
Pelizaeus-Merzbacher disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjc2 gap junction protein gamma 2 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:23143715, PMID:25741868, PMID:31319225 NCBI chrNW_004955581:291,537...294,752 JBrowse link
G Lmnb1 lamin B1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955521:4,583,691...4,612,271
Ensembl chrNW_004955521:4,583,671...4,612,271
JBrowse link
G Plp1 proteolipid protein 1 ISO OMIM NCBI chrNW_004955548:781,522...797,246
Ensembl chrNW_004955548:781,015...797,935
JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, connatal
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, atypical
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, mild
ClinVar PMID:1376966, PMID:1384324, PMID:1605230, PMID:1707231, PMID:1715570, PMID:2479017, PMID:2480601, PMID:2773936, PMID:3827224, PMID:7573159, PMID:7574457, PMID:7683951, PMID:8696336, PMID:8723686, PMID:8786077, PMID:9056547, PMID:9482656, PMID:11071483, PMID:12910435, PMID:19396823, PMID:20301361, PMID:24088041, PMID:25326635, PMID:25491635, PMID:25741868, PMID:26125040, PMID:26467025, PMID:26633545, PMID:27535533, PMID:28492532, PMID:29451896 NCBI chrNW_004955548:825,208...829,815 JBrowse link
peroxisomal acyl-CoA oxidase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox1 acyl-CoA oxidase 1 ISO OMIM NCBI chrNW_004955506:6,286,824...6,309,764
Ensembl chrNW_004955506:6,286,648...6,312,716
JBrowse link
G Ten1 TEN1 subunit of CST complex ISO ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy ClinVar NCBI chrNW_004955506:6,252,146...6,286,675 JBrowse link
peroxisome biogenesis disorder 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex5 peroxisomal biogenesis factor 5 ISO OMIM NCBI chrNW_004955413:4,736,189...4,755,559
Ensembl chrNW_004955413:4,736,189...4,755,766
JBrowse link
Posthemorrhagic Hydrocephalus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcan brevican treatment ISO RGD PMID:22186713 RGD:6483013 NCBI chrNW_004955545:2,723,780...2,739,334
Ensembl chrNW_004955545:2,723,780...2,739,450
JBrowse link
G L1cam L1 cell adhesion molecule ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:22186713 RGD:6483013 NCBI chrNW_004955580:548,442...561,580
Ensembl chrNW_004955580:549,368...561,486
JBrowse link
Progressive Leukodystrophy, Early Childhood-Onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acer3 alkaline ceramidase 3 ISO OMIM NCBI chrNW_004955414:14,741,027...14,846,931
Ensembl chrNW_004955414:14,746,529...14,848,151
JBrowse link
Recurrent Metabolic Encephalomyopathic Crises with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tango2 transport and golgi organization 2 homolog ISO OMIM NCBI chrNW_004955442:18,036,477...18,074,036
Ensembl chrNW_004955442:18,036,477...18,074,213
JBrowse link
Renal-Hepatic-Pancreatic Dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp3 nephrocystin 3 ISO OMIM NCBI chrNW_004955501:5,799,879...5,837,022 JBrowse link
RETINAL DYSTROPHY WITH LEUKODYSTROPHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acbd5 acyl-CoA binding domain containing 5 ISO OMIM NCBI chrNW_004955429:2,623,042...2,661,182
Ensembl chrNW_004955429:2,621,904...2,659,537
JBrowse link
Ritscher-Schinzel syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc22 coiled-coil domain containing 22 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955543:719,185...731,788
Ensembl chrNW_004955543:718,996...733,753
JBrowse link
G Washc5 WASH complex subunit 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955461:145,993...199,274
Ensembl chrNW_004955461:145,993...199,903
JBrowse link
Ritscher-Schinzel syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 ClinVar PMID:19377476, PMID:21826058, PMID:24916641 NCBI chrNW_004955543:719,185...731,788
Ensembl chrNW_004955543:718,996...733,753
JBrowse link
G Dpysl5 dihydropyrimidinase like 5 ISO ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 ClinVar PMID:31474318 NCBI chrNW_004955469:8,838,167...8,920,991
Ensembl chrNW_004955469:8,838,888...8,922,388
JBrowse link
G Washc5 WASH complex subunit 5 ISO OMIM NCBI chrNW_004955461:145,993...199,274
Ensembl chrNW_004955461:145,993...199,903
JBrowse link
Ritscher-Schinzel syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc22 coiled-coil domain containing 22 ISO OMIM NCBI chrNW_004955543:719,185...731,788
Ensembl chrNW_004955543:718,996...733,753
JBrowse link
Schindler Disease, Type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naga alpha-N-acetylgalactosaminidase ISO OMIM NCBI chrNW_004955413:27,463,931...27,472,273
Ensembl chrNW_004955413:27,461,998...27,472,273
JBrowse link
G Wbp2nl WBP2 N-terminal like ISO ClinVar Annotator: match by term: Schindler disease, type 1
ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 1
ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 2
ClinVar NCBI chrNW_004955413:27,402,614...27,442,106
Ensembl chrNW_004955413:27,402,545...27,436,906
JBrowse link
syndromic X-linked intellectual disability 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1s2 adaptor related protein complex 1 subunit sigma 2 ISO OMIM NCBI chrNW_004955519:2,351,754...2,370,650 JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: Pettigrew syndrome ClinVar PMID:25741868 NCBI chrNW_004955572:1,308,491...1,365,147 JBrowse link
ventriculomegaly - cystic kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crb2 crumbs cell polarity complex component 2 ISO OMIM NCBI chrNW_004955419:4,604,883...4,626,675
Ensembl chrNW_004955419:4,607,507...4,626,608
JBrowse link
X-Linked Hydrocephalus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G L1cam L1 cell adhesion molecule ISO OMIM NCBI chrNW_004955580:548,442...561,580
Ensembl chrNW_004955580:549,368...561,486
JBrowse link
X-Linked Hydrocephalus, with Congenital Idiopathic Intestinal Pseudoobstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction
ClinVar Annotator: match by term: Hydrocephalus, X-linked, with hirschsprung disease
ClinVar PMID:9279760, PMID:11857550, PMID:12650797, PMID:15148591, PMID:15368500, PMID:28492532 NCBI chrNW_004955580:548,442...561,580
Ensembl chrNW_004955580:549,368...561,486
JBrowse link
X-linked VACTERL association term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Baz1a bromodomain adjacent to zinc finger domain 1A ISO ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations ClinVar NCBI chrNW_004955409:26,136,961...26,231,960
Ensembl chrNW_004955409:26,149,665...26,231,180
JBrowse link
G Fancb FA complementation group B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL-H
ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked
CTD
ClinVar
PMID:24033266, PMID:25741868, PMID:28492532 NCBI chrNW_004955519:3,337,138...3,364,963
Ensembl chrNW_004955519:3,343,446...3,363,814
JBrowse link
G Fancl FA complementation group L ISO ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked ClinVar PMID:25754594 NCBI chrNW_004955424:25,251,701...25,307,236
Ensembl chrNW_004955424:25,251,689...25,307,180
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL-H
ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly
CTD
ClinVar
PMID:9399897, PMID:9467011, PMID:10232405, PMID:10353779, PMID:10400993, PMID:10468583, PMID:10749983, PMID:10848731, PMID:11238682, PMID:11685670, PMID:11748304, PMID:12844284, PMID:14518070, PMID:15805158, PMID:17286265, PMID:17392703, PMID:17427195, PMID:17942903, PMID:19265751, PMID:19668082, PMID:21194675, PMID:21828076, PMID:21956414, PMID:22252256, PMID:22381246, PMID:23442912, PMID:23470840, PMID:23475934, PMID:23695273, PMID:24033266, PMID:24052722, PMID:24136893, PMID:24778394, PMID:25022750, PMID:25132236, PMID:25157968, PMID:25326635, PMID:25669429, PMID:25741868, PMID:25756585, PMID:27477328, PMID:27535533, PMID:28492532, PMID:28526761, PMID:30287823, PMID:32238909 NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829
JBrowse link
G Sall1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: VACTERL-H ClinVar PMID:25741868 NCBI chrNW_004955433:9,146,074...9,161,171
Ensembl chrNW_004955433:9,144,748...9,161,171
JBrowse link
G Zic3 Zic family member 3 ISO OMIM NCBI chrNW_004955489:7,560,684...7,571,739
Ensembl chrNW_004955489:7,560,684...7,571,892
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11834
    disease of anatomical entity 11389
      nervous system disease 9331
        central nervous system disease 7910
          brain disease 7316
            cerebral degeneration 235
              Alpers-Huttenlocher syndrome + 5
              cerebral lipidosis 0
              hydrocephalus + 86
              leukodystrophy + 115
              neuroaxonal dystrophy + 29
              senile degeneration of brain 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.