Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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 chr 7:42,317,704...42,322,285
Ensembl chr 7:42,317,862...42,322,864
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 chr23:3,721,768...3,814,209
Ensembl chr23:3,732,040...3,814,191
JBrowse link
G PTPN23 protein tyrosine phosphatase non-receptor type 23 ISO ClinVar Annotator: match by term: Brain degeneration ClinVar PMID:30311386 NCBI chr20:41,485,959...41,511,250
Ensembl chr20:41,485,195...41,587,003
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 chr  X:121,545,690...121,564,117
Ensembl chr  X:121,545,586...121,563,186
JBrowse link
G ACSBG1 acyl-CoA synthetase bubblegum family member 1 ISO RGD PMID:15800013 RGD:11065111 NCBI chr 3:58,319,222...58,367,087
Ensembl chr 3:58,319,376...58,366,854
JBrowse link
G ARHGAP4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:121,754,965...121,772,209
Ensembl chr  X:121,755,221...121,772,541
JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:122,133,314...122,140,949
Ensembl chr  X:122,133,325...122,140,447
JBrowse link
G AVPR2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:121,751,606...121,754,771
Ensembl chr  X:121,752,027...121,754,771
JBrowse link
G BCAP31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:121,515,417...121,550,373
Ensembl chr  X:121,507,084...121,545,263
JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:122,838,787...122,850,870
Ensembl chr  X:122,838,645...122,850,884
JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:122,101,992...122,109,240
Ensembl chr  X:122,101,992...122,109,165
JBrowse link
G EMD emerin ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:122,050,309...122,052,629
Ensembl chr  X:122,050,455...122,052,524
JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:122,894,974...123,046,343
Ensembl chr  X:122,885,162...123,043,414
JBrowse link
G FAM3A FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:122,205,043...122,212,626
Ensembl chr  X:122,205,683...122,212,195
JBrowse link
G FAM50A family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:122,148,234...122,158,172
Ensembl chr  X:122,148,282...122,154,807
JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:122,058,303...122,083,467
Ensembl chr  X:122,061,455...122,083,203
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:122,217,317...122,231,862
Ensembl chr  X:122,205,683...122,231,678
JBrowse link
G GAB3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:122,741,199...122,822,446
Ensembl chr  X:122,741,197...122,779,143
JBrowse link
G GDI1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:122,141,633...122,146,724
Ensembl chr  X:122,141,566...122,146,824
JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:121,790,585...121,815,395
Ensembl chr  X:121,791,660...121,814,715
JBrowse link
G HMOX1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773
JBrowse link
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:121,599,368...121,608,707
Ensembl chr  X:121,599,368...121,608,643
JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
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 chr  X:122,232,052...122,253,499
Ensembl chr  X:122,235,878...122,250,562
JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:121,853,340...121,862,582
Ensembl chr  X:121,819,432...121,862,576
JBrowse link
G L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:121,708,695...121,722,819
Ensembl chr  X:121,708,894...121,733,365
JBrowse link
G LAGE3 L antigen family member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:122,185,300...122,186,498 JBrowse link
G LOC100683646 EKC/KEOPS complex subunit LAGE3-like ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:122,566,522...122,567,799 JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:121,866,721...121,876,088
Ensembl chr  X:121,873,218...121,932,994
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G MPP1 membrane palmitoylated protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:122,851,667...122,878,865
Ensembl chr  X:122,851,667...122,879,394
JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:121,777,658...121,782,097
Ensembl chr  X:121,727,573...121,788,860
JBrowse link
G OPN1LW opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:121,974,552...121,987,418
Ensembl chr  X:121,974,552...121,987,418
JBrowse link
G PDZD4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:121,616,122...121,647,326
Ensembl chr  X:121,616,114...121,647,697
JBrowse link
G PEX13 peroxisomal biogenesis factor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10441568 NCBI chr10:61,113,213...61,130,157
Ensembl chr10:61,123,655...61,193,241
JBrowse link
G PEX26 peroxisomal biogenesis factor 26 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12851857 NCBI chr27:45,675,537...45,688,026
Ensembl chr27:45,675,472...45,725,681
JBrowse link
G PLXNA3 plexin A3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:122,165,460...122,180,727
Ensembl chr  X:122,167,144...122,180,951
JBrowse link
G PLXNB3 plexin B3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:121,577,564...121,593,294
Ensembl chr  X:121,580,073...121,593,287
JBrowse link
G RENBP renin binding protein ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:121,782,411...121,788,928
Ensembl chr  X:121,727,573...121,788,860
JBrowse link
G RPL10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:122,098,020...122,100,719
Ensembl chr  X:122,098,020...122,100,719
JBrowse link
G SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:122,197,049...122,201,103
Ensembl chr  X:122,197,289...122,200,219
JBrowse link
G SLC6A8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:121,505,117...121,511,674
Ensembl chr  X:121,505,141...121,510,347
JBrowse link
G SMIM9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:122,885,491...122,893,466 JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
JBrowse link
G SRPK3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:121,594,992...121,599,333
Ensembl chr  X:121,594,864...121,599,277
JBrowse link
G SSR4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:121,608,802...121,613,796
Ensembl chr  X:121,608,944...121,613,795
JBrowse link
G TAZ tafazzin ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:122,111,608...122,125,714
Ensembl chr  X:122,111,434...122,125,506
JBrowse link
G TEX28 testis expressed 28 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:121,987,726...122,030,718
Ensembl chr  X:121,986,906...121,996,306
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr  X:41,201,623...41,205,314
Ensembl chr  X:41,201,638...41,205,310
JBrowse link
G TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:122,007,270...122,034,500
Ensembl chr  X:122,007,282...122,034,255
JBrowse link
G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:121,815,982...121,820,790 JBrowse link
G UBL4A ubiquitin like 4A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:122,195,500...122,196,579
Ensembl chr  X:122,195,502...122,196,577
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 chr11:15,996,627...16,052,719
Ensembl chr11:15,930,436...16,052,127
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 chr 4:58,980,699...59,010,683
Ensembl chr 4:58,980,788...59,010,510
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 IEA
ISO
Alexander disease OMIA
OMIM
PMID:3776469, PMID:8787155, PMID:17099166, PMID:20526046, PMID:26486469 NCBI chr 9:18,569,868...18,579,463
Ensembl chr 9:18,569,892...18,579,461
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 chr 7:61,855,617...61,868,953
Ensembl chr 7:61,855,744...61,865,089
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 chr10:34,873,311...34,943,140
Ensembl chr10:34,848,526...34,940,784
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 chr 3:52,282,955...52,357,874
Ensembl chr 3:52,282,731...52,357,226
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 chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544
JBrowse link
G RLBP1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar NCBI chr 3:52,260,872...52,282,532
Ensembl chr 3:52,260,944...52,282,134
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 chr28:32,133,779...32,157,835
Ensembl chr28:32,132,547...32,157,409
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 chr20:46,946,654...46,978,821
Ensembl chr20:46,937,485...46,978,219
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 chr20:46,946,654...46,978,821
Ensembl chr20:46,937,485...46,978,219
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 chr28:32,133,779...32,157,835
Ensembl chr28:32,132,547...32,157,409
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 chr 9:47,338,435...47,361,974
Ensembl chr 9:47,343,120...47,360,914
JBrowse link
G CSPG4 chondroitin sulfate proteoglycan 4 ISO RGD PMID:19739253 RGD:5686858 NCBI chr30:38,465,486...38,498,365
Ensembl chr30:38,465,241...38,497,971
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 chr 9:47,474,488...47,490,951
Ensembl chr 9:47,473,901...47,490,252
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 chr 9:47,497,354...47,498,861
Ensembl chr 9:47,497,719...47,498,048
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO protein:decreased expression:cerebellum, brain stem RGD PMID:15016427 RGD:6484588 NCBI chr 4:34,629,046...34,662,711 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 chr 9:47,540,417...47,542,953
Ensembl chr 9:47,540,446...47,542,791
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 chr 9:47,510,846...47,596,830
Ensembl chr 9:47,533,305...47,596,209
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 chr 9:47,500,593...47,516,790 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 chr 9:47,445,969...47,486,756 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 chr 9:47,322,817...47,338,202
Ensembl chr 9:47,322,820...47,338,108
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 chr 9:47,492,371...47,497,298
Ensembl chr 9:47,493,069...47,497,203
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 chr 9:47,404,987...47,443,871
Ensembl chr 9:47,404,972...47,431,926
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 chr 9:47,365,275...47,398,198
Ensembl chr 9:47,368,544...47,401,362
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 chr28:32,133,779...32,157,835
Ensembl chr28:32,132,547...32,157,409
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 chr21:25,971,680...25,975,556
Ensembl chr21:25,972,458...25,975,558
JBrowse link
G CBD108 uncharacterized CBD108 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr16:53,938,211...53,944,168 JBrowse link
G DHCR7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr18:47,257,750...47,277,436
Ensembl chr18:47,261,730...47,274,236
JBrowse link
G FOLR1 folate receptor alpha ISO OMIM NCBI chr21:25,944,350...25,951,010 JBrowse link
G IL18BP interleukin 18 binding protein ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr21:26,076,515...26,080,741
Ensembl chr21:26,076,700...26,078,612
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 chr21:25,981,170...25,986,942
Ensembl chr21:25,981,254...25,996,432
JBrowse link
G LOC106560171 transmembrane O-methyltransferase ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr21:25,975,547...25,981,097 JBrowse link
G NADSYN1 NAD synthetase 1 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr18:47,216,547...47,254,582
Ensembl chr18:47,216,577...47,254,514
JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr21:26,000,579...26,076,281
Ensembl chr21:26,037,095...26,075,549
JBrowse link
G RNF121 ring finger protein 121 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr21:26,080,885...26,163,570
Ensembl chr21:26,079,692...26,163,493
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 chr  X:42,004,268...42,024,726
Ensembl chr  X:42,004,591...42,024,427
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 chr34:271,572...505,656
Ensembl chr34:272,290...505,636
JBrowse link
G TRIP12 thyroid hormone receptor interactor 12 ISO OMIM NCBI chr25:42,060,103...42,208,326
Ensembl chr25:42,060,991...42,208,054
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 chr 9:427,827...436,880
Ensembl chr 9:427,830...436,064
JBrowse link
G SEC24D SEC24 homolog D, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr32:37,690,158...37,795,762
Ensembl chr32:37,690,399...37,924,252
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 chr 9:427,827...436,880
Ensembl chr 9:427,830...436,064
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 chr32:37,690,158...37,795,762
Ensembl chr32:37,690,399...37,924,252
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 chr 5:48,489,521...49,064,867
Ensembl chr 5:48,496,773...49,064,848
JBrowse link
G TMEM67 transmembrane protein 67 ISO RGD PMID:30705305 RGD:14995942 NCBI chr29:38,655,531...38,715,774
Ensembl chr29:38,654,733...38,720,559
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 chr23:3,888,287...3,959,910
Ensembl chr23:3,893,647...3,960,411
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 chr 6:70,852,223...70,881,979
Ensembl chr 6:70,853,061...70,878,668
JBrowse link
G MPDZ multiple PDZ domain crumbs cell polarity complex component ISO OMIM NCBI chr11:33,691,434...33,826,500
Ensembl chr11:33,692,296...33,826,437
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 chr 9:45,860,200...45,875,439
Ensembl chr 9:45,859,455...45,875,439
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 chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906
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 chr25:43,117,272...43,264,854
Ensembl chr25:43,110,182...43,292,123
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 chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906
JBrowse link
G CHN1 chimerin 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr36:18,785,470...18,990,409
Ensembl chr36:18,786,073...18,980,993
JBrowse link
G DPH1 diphthamide biosynthesis 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25558065 NCBI chr 9:46,137,573...46,147,829
Ensembl chr 9:46,137,660...46,147,854
JBrowse link
G DPYSL5 dihydropyrimidinase like 5 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chr17:20,852,000...20,948,841
Ensembl chr17:20,895,134...20,946,055
JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chr 5:8,589,606...8,605,196
Ensembl chr 5:8,589,369...8,605,317
JBrowse link
G KIAA1109 KIAA1109 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25558065 NCBI chr19:17,841,450...18,047,002
Ensembl chr19:17,841,967...18,044,276
JBrowse link
G KIF1A kinesin family member 1A ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr25:50,855,703...50,945,014
Ensembl chr25:50,858,698...50,944,964
JBrowse link
G KMT2D lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr27:5,516,866...5,556,303
Ensembl chr27:5,521,804...5,553,490
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 chr  X:121,708,695...121,722,819
Ensembl chr  X:121,708,894...121,733,365
JBrowse link
G LOC610636 tubulin alpha-1B chain ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:17584854, PMID:18669490, PMID:18728072, PMID:18954413, PMID:20466733, PMID:22264709, PMID:23361065, PMID:23528852, PMID:24860126, PMID:25008804, PMID:25741868, PMID:26795593, PMID:30744660, PMID:31474318 NCBI chr37:25,811,491...25,818,838 JBrowse link
G MAGED2 MAGE family member D2 ISO ClinVar Annotator: match by term: Dandy-Walker cyst ClinVar NCBI chr  X:46,502,459...46,510,990
Ensembl chr  X:46,502,381...46,509,436
JBrowse link
G MID1 midline 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr  X:7,087,890...7,438,553
Ensembl chr  X:7,089,831...7,194,267
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 chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283
JBrowse link
G PIBF1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:30858804, PMID:31474318 NCBI chr22:26,935,390...27,133,308
Ensembl chr22:26,936,567...27,133,308
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 chr17:22,680,691...22,699,999
Ensembl chr17:22,679,783...22,699,999
JBrowse link
G PUS3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chr 5:8,586,374...8,597,108
Ensembl chr 5:8,586,324...8,596,881
JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chr20:41,675,539...41,800,697
Ensembl chr20:41,675,599...41,800,612
JBrowse link
G TMEM47 transmembrane protein 47 ISO ClinVar Annotator: match by term: Dandy-Walker cyst ClinVar NCBI chr  X:29,675,386...29,705,941
Ensembl chr  X:29,675,387...29,705,941
JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827
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 chr 7:42,762,021...42,785,192
Ensembl chr 7:42,748,136...42,782,999
JBrowse link
G AQP1 aquaporin 1 (Colton blood group) disease_progression ISO RGD PMID:21135737 RGD:5148011 NCBI chr14:43,592,266...43,603,903
Ensembl chr14:43,578,721...43,605,720
JBrowse link
G AQP4 aquaporin 4 disease_progression ISO RGD PMID:21135737 RGD:5148011 NCBI chr 7:61,855,617...61,868,953
Ensembl chr 7:61,855,744...61,865,089
JBrowse link
G ARID1B AT-rich interaction domain 1B ISO RGD PMID:28867767 RGD:13439722 NCBI chr 1:46,370,621...46,800,531
Ensembl chr 1:46,372,767...46,799,104
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 chr 1:112,325,988...112,346,056
Ensembl chr 1:112,325,289...112,346,916
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 chr25:51,449,700...51,450,967 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 chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906
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 chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494
JBrowse link
G CCDC88C coiled-coil domain containing 88C ISO OMIM NCBI chr 8:62,123,934...62,245,485
Ensembl chr 8:62,143,029...62,245,491
JBrowse link
G CCND2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chr27:40,563,306...40,593,362
Ensembl chr27:40,564,921...40,594,255
JBrowse link
G CDK8 cyclin dependent kinase 8 ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:25741868 NCBI chr25:13,043,949...13,179,752
Ensembl chr25:13,045,343...13,179,656
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 chr 4:71,435,994...71,567,567
Ensembl chr 4:71,430,575...71,567,267
JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22522421 NCBI chr14:30,697,060...30,989,423
Ensembl chr14:30,648,128...30,989,604
JBrowse link
G DOCK6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Hydrocephalus ClinVar NCBI chr20:50,029,354...50,066,829
Ensembl chr20:50,029,369...50,066,829
JBrowse link
G GDNF glial cell derived neurotrophic factor ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:30311386 NCBI chr 4:70,966,694...70,991,860
Ensembl chr 4:70,971,432...70,989,714
JBrowse link
G GLDC glycine decarboxylase ISO RGD PMID:25736695 RGD:12904662 NCBI chr11:27,491,639...27,584,450
Ensembl chr11:27,414,834...27,584,450
JBrowse link
G HMGB1 high mobility group box 1 ISO RGD PMID:22116431 RGD:10402405 NCBI chr25:9,431,223...9,558,167
Ensembl chr25:9,431,218...9,558,165
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:15964663 RGD:1624238 NCBI chr37:7,010,421...7,025,912 JBrowse link
G HYDIN HYDIN axonemal central pair apparatus protein ISO DNA:nonsense mutation:exon (mouse)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:12719380, PMID:19029900 RGD:634487 NCBI chr 5:76,743,872...77,104,888
Ensembl chr 5:76,743,972...77,045,455
JBrowse link
G IFT122 intraflagellar transport 122 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20493458 NCBI chr20:5,644,002...5,716,702
Ensembl chr20:5,644,089...5,715,906
JBrowse link
G ITGB1 integrin subunit beta 1 ISO RGD PMID:19726708 RGD:2325325 NCBI chr 2:3,728,472...3,757,696
Ensembl chr 2:3,670,596...3,756,961
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 chr 9:49,532,073...49,581,332
Ensembl chr 9:49,532,922...49,593,633
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 chr  X:121,708,695...121,722,819
Ensembl chr  X:121,708,894...121,733,365
JBrowse link
G LLGL1 LLGL scribble cell polarity complex component 1 ISO RGD PMID:15037549 RGD:1300301 NCBI chr 5:41,314,807...41,332,687
Ensembl chr 5:41,315,152...41,332,896
JBrowse link
G LOC100687127 thioredoxin-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:31310794 NCBI chr  X:82,986,288...82,986,753 JBrowse link
G LOC480667 endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 9:48,533,962...48,545,514
Ensembl chr 9:48,533,962...48,545,344
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 chr11:33,691,434...33,826,500
Ensembl chr11:33,692,296...33,826,437
JBrowse link
G NIN ninein ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:30311386 NCBI chr 8:27,100,740...27,199,269
Ensembl chr 8:27,104,262...27,189,463
JBrowse link
G NTF3 neurotrophin 3 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:11580868 RGD:1358755 NCBI chr27:39,383,017...39,454,613
Ensembl chr27:39,383,152...39,454,601
JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Hydrocephaly ClinVar PMID:25741868 NCBI chr 2:84,320,529...84,343,562
Ensembl chr 2:84,320,529...84,343,562
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 chr10:19,934,020...20,006,096
Ensembl chr10:19,934,165...20,006,146
JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:28492532, PMID:29983323 NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662
JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:31474318 NCBI chr20:41,675,539...41,800,697
Ensembl chr20:41,675,599...41,800,612
JBrowse link
G SIN3A SIN3 transcription regulator family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27399968 NCBI chr30:38,231,844...38,306,665
Ensembl chr30:38,232,680...38,382,635
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 chr20:41,165,593...41,337,237
Ensembl chr20:41,165,522...41,335,917
JBrowse link
G TMEM67 transmembrane protein 67 ISO RGD PMID:30705305 RGD:14995942 NCBI chr29:38,655,531...38,715,774
Ensembl chr29:38,654,733...38,720,559
JBrowse link
G TRIM71 tripartite motif containing 71 ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:29983323 NCBI chr23:3,888,287...3,959,910
Ensembl chr23:3,893,647...3,960,411
JBrowse link
G WDR37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:31327508, PMID:31327510, PMID:31474318 NCBI chr 2:33,865,534...33,912,119
Ensembl chr 2:33,682,418...33,923,843
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 chr 5:8,589,606...8,605,196
Ensembl chr 5:8,589,369...8,605,317
JBrowse link
G KIF7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21552264 NCBI chr 3:52,630,059...52,649,164
Ensembl chr 3:52,630,494...52,649,231
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 chr 5:8,586,374...8,597,108
Ensembl chr 5:8,586,324...8,596,881
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 chr 5:8,589,606...8,605,196
Ensembl chr 5:8,589,369...8,605,317
JBrowse link
G KIF7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:52,630,059...52,649,164
Ensembl chr 3:52,630,494...52,649,231
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 chr 5:8,586,374...8,597,108
Ensembl chr 5:8,586,324...8,596,881
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 chr 3:52,630,059...52,649,164
Ensembl chr 3:52,630,494...52,649,231
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 chr 7:38,902,705...38,905,924 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 chr12:11,978,337...11,982,265
Ensembl chr12:11,978,422...12,008,579
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 IEA
ISO
Neuroaxonal dystrophy, VPS11-related OMIA
OMIM
PMID:3410773, PMID:6698879, PMID:6842267, PMID:11699565, PMID:29945969 NCBI chr 5:14,776,975...14,786,736
Ensembl chr 5:14,776,976...14,786,692
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 chr21:13,210,356...13,249,595
Ensembl chr21:13,210,362...13,249,565
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 chr25:2,427,521...2,547,449
Ensembl chr25:2,386,609...2,547,311
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 chr38:14,754,628...14,823,626
Ensembl chr38:14,754,632...14,823,621
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 chr14:27,140,692...27,166,652
Ensembl chr14:27,140,687...27,161,333
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 chr 6:11,438,768...11,446,307
Ensembl chr 6:11,438,803...11,446,308
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 chr 7:40,147,293...40,152,190
Ensembl chr 7:40,147,505...40,153,085
JBrowse link
Hypomyelinating Leukodystrophy 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM63A transmembrane protein 63A ISO OMIM NCBI chr 7:38,936,989...38,964,349
Ensembl chr 7:38,937,041...38,964,345
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 chr14:810,388...819,248
Ensembl chr14:810,386...820,420
JBrowse link
G SNAP29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 2 ClinVar PMID:25356970 NCBI chr26:30,606,195...30,630,441
Ensembl chr26:30,609,158...30,630,262
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 chr 9:20,888,350...20,896,139
Ensembl chr 9:20,886,574...20,896,079
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 chr32:27,062,812...27,102,654
Ensembl chr32:27,062,950...27,101,977
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 chr37:7,010,421...7,025,912 JBrowse link
G POLR3A RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 4 ClinVar PMID:29389947 NCBI chr 4:27,834,197...27,883,065
Ensembl chr 4:27,835,612...27,883,436
JBrowse link
hypomyelinating leukodystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASP10 caspase 10 ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:16446975, PMID:22995991, PMID:25741868, PMID:28492532 NCBI chr37:10,315,867...10,350,585 JBrowse link
G FAM126A family with sequence similarity 126 member A ISO OMIM NCBI chr14:36,594,263...36,718,960
Ensembl chr14:36,619,971...36,718,895
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 chr20:53,697,643...53,702,671
Ensembl chr20:53,697,639...53,702,349
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 chr 4:64,777,069...65,162,603
Ensembl chr 4:64,775,577...65,160,444
JBrowse link
G POLR3A RNA polymerase III subunit A ISO OMIM NCBI chr 4:27,834,197...27,883,065
Ensembl chr 4:27,835,612...27,883,436
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 chr10:32,202,188...32,309,775
Ensembl chr10:32,202,190...32,309,614
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 chr 4:27,886,872...27,893,145
Ensembl chr 4:27,877,075...27,908,806
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 chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624
JBrowse link
G POLR3B RNA polymerase III subunit B ISO OMIM NCBI chr10:32,202,188...32,309,775
Ensembl chr10:32,202,190...32,309,614
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 chr 4:43,237,499...43,260,738
Ensembl chr 4:43,237,499...43,260,677
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 chr24:17,461,406...17,475,248
Ensembl chr24:17,463,447...17,490,360
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 chr10:26,499,033...26,559,533
Ensembl chr10:26,509,695...26,634,087
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 chr  X:101,275,027...101,307,551
Ensembl chr  X:101,275,017...101,307,367
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 chr17:49,301,397...49,513,729
Ensembl chr17:49,301,606...49,513,625
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 chr10:16,691,927...16,694,346
Ensembl chr10:16,691,758...16,695,398
JBrowse link
G DEGS1 delta 4-desaturase, sphingolipid 1 ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868, PMID:30620337, PMID:31186544 NCBI chr 7:40,147,293...40,152,190
Ensembl chr 7:40,147,505...40,153,085
JBrowse link
G EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868 NCBI chr34:17,038,163...17,047,390
Ensembl chr34:17,038,203...17,046,928
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 chr 8:59,266,693...59,324,825
Ensembl chr 8:59,267,818...59,324,967
JBrowse link
G KARS1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868 NCBI chr 5:75,172,976...75,188,197
Ensembl chr 5:75,173,032...75,188,197
JBrowse link
G MEN1 menin 1 ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:12652570, PMID:23321498, PMID:25741868, PMID:28492532 NCBI chr18:52,346,747...52,352,884
Ensembl chr18:52,346,933...52,353,340
JBrowse link
G MLC1 modulator of VRAC current 1 ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:11254442, PMID:11935341, PMID:30311386 NCBI chr10:17,139,912...17,164,666
Ensembl chr10:17,139,448...17,163,056
JBrowse link
G PSEN1 presenilin 1 ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868, PMID:30311386, PMID:31153663 NCBI chr 8:46,495,551...46,569,532
Ensembl chr 8:46,495,624...46,569,532
JBrowse link
G RAB33A RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:30311386 NCBI chr  X:101,311,752...101,322,825
Ensembl chr  X:101,312,611...101,322,689
JBrowse link
G SPTBN2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:30311386 NCBI chr18:50,631,053...50,670,428
Ensembl chr18:50,631,909...50,669,916
JBrowse link
G TMEM63A transmembrane protein 63A ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868, PMID:31587869 NCBI chr 7:38,936,989...38,964,349
Ensembl chr 7:38,937,041...38,964,345
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 chr 1:113,737,662...113,745,936 JBrowse link
G PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 ISO OMIM NCBI chr 1:113,800,620...113,811,478
Ensembl chr 1:113,800,305...113,810,683
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 chr  X:107,031,586...107,133,402
Ensembl chr  X:107,034,118...107,133,082
JBrowse link
G EIF2B1 eukaryotic translation initiation factor 2B subunit alpha ISO OMIM NCBI chr26:6,011,280...6,022,562
Ensembl chr26:6,011,301...6,022,518
JBrowse link
G EIF2B2 eukaryotic translation initiation factor 2B subunit beta ISO OMIM NCBI chr 8:48,110,521...48,117,175
Ensembl chr 8:48,110,050...48,116,686
JBrowse link
G EIF2B3 eukaryotic translation initiation factor 2B subunit gamma ISO OMIM NCBI chr15:15,337,421...15,481,427
Ensembl chr15:15,337,483...15,481,425
JBrowse link
G EIF2B4 eukaryotic translation initiation factor 2B subunit delta ISO OMIM NCBI chr17:21,321,329...21,326,357
Ensembl chr17:21,321,349...21,326,244
JBrowse link
G EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon ISO OMIM NCBI chr34:17,038,163...17,047,390
Ensembl chr34:17,038,203...17,046,928
JBrowse link
G MLH3 mutL homolog 3 ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter ClinVar PMID:25741868 NCBI chr 8:48,123,263...48,153,989
Ensembl chr 8:48,124,105...48,154,102
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 chr23:29,662,486...29,703,629
Ensembl chr23:29,645,641...29,703,805
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 chr 5:9,520,998...9,535,019
Ensembl chr 5:9,521,740...9,534,958
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 chr10:17,139,912...17,164,666
Ensembl chr10:17,139,448...17,163,056
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 chr 5:9,520,998...9,535,019
Ensembl chr 5:9,521,740...9,534,958
JBrowse link
G MLC1 modulator of VRAC current 1 ISO OMIM NCBI chr10:17,139,912...17,164,666
Ensembl chr10:17,139,448...17,163,056
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 chr 5:9,520,998...9,535,019
Ensembl chr 5:9,521,740...9,534,958
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 chr 5:9,520,998...9,535,019
Ensembl chr 5:9,521,740...9,534,958
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 chr 7:34,633,064...34,931,112
Ensembl chr 7:34,636,124...34,931,112
JBrowse link
G CCND2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24705253, PMID:29642246 NCBI chr27:40,563,306...40,593,362
Ensembl chr27:40,564,921...40,594,255
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22729224 NCBI chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910
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 chr20:44,826,037...44,838,449
Ensembl chr20:44,826,339...44,836,558
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 chr20:44,826,037...44,838,449
Ensembl chr20:44,826,339...44,836,558
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 chr 7:34,633,064...34,931,112
Ensembl chr 7:34,636,124...34,931,112
JBrowse link
G C7H1orf100 chromosome 7 C1orf100 homolog ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 7:35,408,365...35,433,101
Ensembl chr 7:35,408,424...35,432,743
JBrowse link
G CEP170 centrosomal protein 170 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 7:34,264,994...34,395,355
Ensembl chr 7:34,266,147...34,364,497
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 chr 7:33,422,964...33,836,252
Ensembl chr 7:33,429,409...33,836,258
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 chr 7:34,395,977...34,631,479
Ensembl chr 7:34,396,345...34,631,462
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 chr 7:35,123,417...35,130,349
Ensembl chr 7:35,117,209...35,129,134
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 chr27:40,563,306...40,593,362
Ensembl chr27:40,564,921...40,594,255
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 chr13:38,398,445...38,441,128
Ensembl chr13:38,400,591...38,441,015
JBrowse link
G NAGA alpha-N-acetylgalactosaminidase ISO Schindler disease, OMIM:609241, DNA:point mutation:exon:E325K
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:2243144 RGD:1600557 NCBI chr10:23,303,950...23,312,409
Ensembl chr10:23,304,354...23,396,068
JBrowse link
G PLA2G6 phospholipase A2 group VI ISO DNA:point mutation:cds
DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple
DNA:insertion:intron (mouse)
DNA:deletion:cds:p.V691del (human)
RGD PMID:17033970, PMID:18305254, PMID:19138334, PMID:19893029, PMID:22442204 RGD:6482732, RGD:6482735, RGD:6482736, RGD:6482739, RGD:6482740 NCBI chr10:26,499,033...26,559,533
Ensembl chr10:26,509,695...26,634,087
JBrowse link
G TECPR2 tectonin beta-propeller repeat containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26555167 NCBI chr 8:70,332,934...70,435,558
Ensembl chr 8:70,344,063...70,434,218
JBrowse link
G UCHL1 ubiquitin C-terminal hydrolase L1 ISO DNA:deletion RGD PMID:11555633 RGD:1302546 NCBI chr 3:71,396,694...71,430,395
Ensembl chr 3:71,370,822...71,411,350
JBrowse link
G UCHL3 ubiquitin C-terminal hydrolase L3 ISO RGD PMID:11555633 RGD:1302546 NCBI chr22:29,348,962...29,397,944
Ensembl chr22:29,348,706...29,407,965
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 chr12:12,706,043...12,718,821
Ensembl chr12:12,704,983...12,718,821
JBrowse link
G CRAT carnitine O-acetyltransferase ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:25741868, PMID:29395073 NCBI chr 9:54,566,708...54,580,301
Ensembl chr 9:54,566,407...54,580,025
JBrowse link
G PANK2 pantothenate kinase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 1, atypical
ClinVar Annotator: match by term: Iron accumulation in brain
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 chr24:17,461,406...17,475,248
Ensembl chr24:17,463,447...17,490,360
JBrowse link
G PLA2G6 phospholipase A2 group VI IEA Neuroaxonal dystrophy, PLA2G6-related OMIA PMID:8583759, PMID:17543020, PMID:17552463, PMID:17984592, PMID:19176506, PMID:28107443 NCBI chr10:26,499,033...26,559,533
Ensembl chr10:26,509,695...26,634,087
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 chr 1:31,141,321...31,200,200
Ensembl chr 1:31,141,258...31,181,542
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 chr  X:42,221,261...42,237,535
Ensembl chr  X:42,218,046...42,226,422
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 chr10:26,499,033...26,559,533
Ensembl chr10:26,509,695...26,634,087
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 chr10:26,499,033...26,559,533
Ensembl chr10:26,509,695...26,634,087
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 chr 1:107,418,457...107,419,923
Ensembl chr 1:107,418,458...107,419,923
JBrowse link
G GYS1 glycogen synthase 1 ISO ClinVar Annotator: match by term: Neuroferritinopathy ClinVar PMID:17182944, PMID:18414213, PMID:25741868, PMID:28492532 NCBI chr 1:107,401,056...107,417,273
Ensembl chr 1:107,401,114...107,417,122
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 C1H19orf12 chromosome 1 C19orf12 homolog ISO OMIM NCBI chr 1:121,758,579...121,767,162
Ensembl chr 1:121,758,236...121,766,652
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 chr  X:42,079,396...42,109,129
Ensembl chr  X:42,081,561...42,108,612
JBrowse link
G WDR45 WD repeat domain 45 ISO OMIM NCBI chr  X:42,221,261...42,237,535
Ensembl chr  X:42,218,046...42,226,422
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 chr 9:20,396,334...20,400,542
Ensembl chr 9:20,396,367...20,400,147
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 chr 1:31,141,321...31,200,200
Ensembl chr 1:31,141,258...31,181,542
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 chr 9:54,566,708...54,580,301
Ensembl chr 9:54,566,407...54,580,025
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 chr28:16,443,417...16,555,027
Ensembl chr28:16,443,389...16,555,792
JBrowse link
G PMPCA peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Normal pressure hydrocephalus ClinVar PMID:10528257, PMID:25808372 NCBI chr 9:49,073,124...49,083,302
Ensembl chr 9:49,073,108...49,224,961
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 chr24:17,461,406...17,475,248
Ensembl chr24:17,463,447...17,490,360
JBrowse link
G SNCA synuclein alpha ISO RGD PMID:10934140 RGD:6480098 NCBI chr32:12,915,871...13,079,338
Ensembl chr32:12,916,215...13,060,383
JBrowse link
G SNCB synuclein beta ISO RGD PMID:10934140 RGD:6480098 NCBI chr 4:36,710,236...36,719,455
Ensembl chr 4:36,616,039...36,764,501
JBrowse link
G SNCG synuclein gamma ISO RGD PMID:10934140 RGD:6480098 NCBI chr 4:34,604,867...34,608,851
Ensembl chr 4:34,605,091...34,608,842
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 chr14:810,388...819,248
Ensembl chr14:810,386...820,420
JBrowse link
G LMNB1 lamin B1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:15,996,627...16,052,719
Ensembl chr11:15,930,436...16,052,127
JBrowse link
G PLP1 proteolipid protein 1 ISO
IEA
Tremor, X-linked OMIM
OMIA
PMID:343874, PMID:4652629, PMID:4721939, PMID:9035971 NCBI chr  X:77,191,112...77,207,772
Ensembl chr  X:77,191,150...77,205,964
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, mild
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, atypical
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 chr  X:77,228,609...77,238,344
Ensembl chr  X:77,231,441...77,239,001
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 chr 9:4,658,692...4,682,667
Ensembl chr 9:4,658,090...4,679,096
JBrowse link
G TEN1 TEN1 subunit of CST complex ISO ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy ClinVar NCBI chr 9:4,635,192...4,658,455
Ensembl chr 9:4,635,354...4,658,252
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 chr27:37,843,218...37,860,664
Ensembl chr27:37,809,717...37,860,376
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 chr 7:41,313,578...41,330,178
Ensembl chr 7:41,313,579...41,330,178
JBrowse link
G L1CAM L1 cell adhesion molecule ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:22186713 RGD:6483013 NCBI chr  X:121,708,695...121,722,819
Ensembl chr  X:121,708,894...121,733,365
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 chr21:21,711,315...21,863,409
Ensembl chr21:21,714,156...21,863,320
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 chr26:29,265,489...29,303,814
Ensembl chr26:29,266,256...29,304,164
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 chr23:29,662,486...29,703,629
Ensembl chr23:29,645,641...29,703,805
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 chr 2:6,873,207...6,923,152
Ensembl chr 2:6,874,831...6,922,082
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 chr  X:42,329,320...42,343,270
Ensembl chr  X:42,328,755...42,343,270
JBrowse link
G WASHC5 WASH complex subunit 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:23,019,422...23,078,073
Ensembl chr13:23,019,636...23,078,280
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 chr  X:42,329,320...42,343,270
Ensembl chr  X:42,328,755...42,343,270
JBrowse link
G DPYSL5 dihydropyrimidinase like 5 ISO ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 ClinVar PMID:31474318 NCBI chr17:20,852,000...20,948,841
Ensembl chr17:20,895,134...20,946,055
JBrowse link
G WASHC5 WASH complex subunit 5 ISO OMIM NCBI chr13:23,019,422...23,078,073
Ensembl chr13:23,019,636...23,078,280
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 chr  X:42,329,320...42,343,270
Ensembl chr  X:42,328,755...42,343,270
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 chr10:23,303,950...23,312,409
Ensembl chr10:23,304,354...23,396,068
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 2
ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 1
ClinVar NCBI chr10:23,333,420...23,368,234
Ensembl chr10:23,344,094...23,368,153
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 chr  X:12,075,797...12,105,911
Ensembl chr  X:12,076,724...12,103,654
JBrowse link
G CUL4B cullin 4B ISO ClinVar Annotator: match by term: Pettigrew syndrome ClinVar PMID:25741868 NCBI chr  X:92,489,981...92,538,199
Ensembl chr  X:92,491,114...92,537,672
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 chr 9:59,427,661...59,450,436
Ensembl chr 9:59,427,569...59,450,434
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 chr  X:121,708,695...121,722,819
Ensembl chr  X:121,708,894...121,733,365
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 hirschsprung disease
ClinVar Annotator: match by term: Hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction
ClinVar PMID:9279760, PMID:11857550, PMID:12650797, PMID:15148591, PMID:15368500, PMID:28492532 NCBI chr  X:121,708,695...121,722,819
Ensembl chr  X:121,708,894...121,733,365
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 chr 8:13,604,694...13,694,508
Ensembl chr 8:13,605,182...13,693,847
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 chr  X:10,690,826...11,140,838
Ensembl chr  X:11,095,200...11,141,029
JBrowse link
G FANCL FA complementation group L ISO ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked ClinVar PMID:25754594 NCBI chr10:58,521,480...58,637,352
Ensembl chr10:58,521,552...58,637,482
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 chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
JBrowse link
G SALL1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: VACTERL-H ClinVar PMID:25741868 NCBI chr 2:64,242,742...64,260,021
Ensembl chr 2:64,243,987...64,259,521
JBrowse link
G ZIC3 Zic family member 3 ISO OMIM NCBI chr  X:107,822,002...107,833,582
Ensembl chr  X:107,821,948...107,833,597
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12699
    disease of anatomical entity 12239
      nervous system disease 10001
        central nervous system disease 8459
          brain disease 7835
            cerebral degeneration 242
              Alpers-Huttenlocher syndrome + 5
              cerebral lipidosis 0
              hydrocephalus + 87
              leukodystrophy + 119
              neuroaxonal dystrophy + 31
              senile degeneration of brain 0
paths to the root

NHLBI Logo

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