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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.


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 IAGP ClinVar Annotator: match by term: Brain degeneration ClinVar PMID:30311386 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
JBrowse link
G GLB1 galactosidase beta 1 IAGP 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 chr 3:32,996,617...33,097,146
Ensembl chr 3:32,996,609...33,097,202
JBrowse link
G PTPN23 protein tyrosine phosphatase non-receptor type 23 IAGP ClinVar Annotator: match by term: Brain degeneration ClinVar PMID:30311386 NCBI chr 3:47,381,001...47,413,435
Ensembl chr 3:47,381,011...47,413,435
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 IAGP
EXP
ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar Annotator: match by term: SIEMERLING-CREUTZFELDT DISEASE
ClinVar Annotator: match by term: Adrenomyeloneuropathy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:1481812 PMID:6728562 PMID:6795626 PMID:7202134 PMID:7561948 PMID:7581394 PMID:7668254 PMID:7677014 PMID:7717396 PMID:7811247 PMID:7825602 PMID:7849718 PMID:7849723 PMID:7860075 PMID:7894167 PMID:7904210 PMID:7998779 PMID:8040304 PMID:8048932 PMID:8353949 PMID:8441467 PMID:8566952 PMID:8621506 PMID:8651290 PMID:8773611 PMID:8892025 PMID:9051655 PMID:9088111 PMID:9195223 PMID:9212180 PMID:9242200 PMID:9425230 PMID:9452087 PMID:9553942 PMID:9556301 PMID:9894883 PMID:10190819 PMID:10227685 PMID:10480364 PMID:10551832 PMID:10737980 PMID:10815658 PMID:10980309 PMID:10980539 PMID:11102997 PMID:11220738 PMID:11248239 PMID:11310629 PMID:11330045 PMID:11336405 PMID:11438993 PMID:11739809 PMID:11748843 PMID:11798073 PMID:11810273 PMID:12175782 PMID:12530690 PMID:12624723 PMID:12913200 PMID:14713218 PMID:14767898 PMID:15032602 PMID:15192815 PMID:15284851 PMID:15333254 PMID:15388659 PMID:15564782 PMID:15643618 PMID:15800013 PMID:15811009 PMID:15812458 PMID:15878823 PMID:16018167 PMID:16023551 PMID:16087056 PMID:16319717 PMID:16401743 PMID:16415970 PMID:16949688 PMID:16996397 PMID:17029209 PMID:17285533 PMID:17498713 PMID:17504626 PMID:17542813 PMID:17602313 PMID:17990484 PMID:18206987 PMID:18306728 PMID:18973459 PMID:19129531 PMID:19496984 PMID:19660195 PMID:19963315 PMID:20008255 PMID:20195870 PMID:20301491 PMID:20455653 PMID:20626745 PMID:20661612 PMID:20800589 PMID:20849526 PMID:20859061 PMID:21068741 PMID:21300044 PMID:21476988 PMID:21478203 PMID:21488864 PMID:21586746 PMID:21700483 PMID:21889498 PMID:21907609 PMID:21966424 PMID:22057157 PMID:22176151 PMID:22198747 PMID:22280810 PMID:22366764 PMID:22479560 PMID:22483867 PMID:22914231 PMID:23009600 PMID:23154058 PMID:23300730 PMID:23419472 PMID:23430809 PMID:23469258 PMID:23566833 PMID:23566848 PMID:23664929 PMID:23671276 PMID:23712774 PMID:23768953 PMID:23835273 PMID:23926373 PMID:24154795 PMID:24480483 PMID:24685009 PMID:24719134 PMID:24722136 PMID:24788897 PMID:25275259 PMID:25324868 PMID:25741868 PMID:26227820 PMID:26260157 PMID:26388597 PMID:26454440 PMID:26467025 PMID:26523528 PMID:26609365 PMID:27067449 PMID:27084228 PMID:27766264 PMID:27779215 PMID:28456143 PMID:28492532 PMID:28503596 PMID:28953922 PMID:29056270 PMID:29284317 PMID:29443243 PMID:30311386 PMID:30544401 PMID:30564185 PMID:30902905 PMID:31074578 PMID:32207279, PMID:8048932 RGD:1598655 NCBI chr  X:153,724,851...153,744,755
Ensembl chr  X:153,724,856...153,744,755
JBrowse link
G ACSBG1 acyl-CoA synthetase bubblegum family member 1 IEP RGD PMID:15800013 RGD:11065111 NCBI chr15:78,167,468...78,234,625
Ensembl chr15:78,167,468...78,245,688
JBrowse link
G ARHGAP4 Rho GTPase activating protein 4 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:153,907,378...153,926,264
Ensembl chr  X:153,907,367...153,934,999
JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:154,428,669...154,436,516
Ensembl chr  X:154,428,645...154,436,516
JBrowse link
G AVPR2 arginine vasopressin receptor 2 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:153,902,625...153,907,166
Ensembl chr  X:153,902,531...153,907,166
JBrowse link
G BCAP31 B cell receptor associated protein 31 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:153,700,492...153,724,746
Ensembl chr  X:153,700,492...153,724,565
JBrowse link
G CTAG1A cancer/testis antigen 1A IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:154,585,133...154,586,816
Ensembl chr  X:154,585,133...154,586,821
JBrowse link
G CTAG1B cancer/testis antigen 1B IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:154,617,609...154,619,282
Ensembl chr  X:154,617,609...154,619,282
JBrowse link
G CTAG2 cancer/testis antigen 2 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:154,651,977...154,653,579
Ensembl chr  X:154,651,972...154,653,579
JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689
JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:154,401,236...154,412,101
Ensembl chr  X:154,401,236...154,412,112
JBrowse link
G EMD emerin IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:154,379,236...154,381,523
Ensembl chr  X:154,379,273...154,381,523
Ensembl chr  X:154,379,273...154,381,523
JBrowse link
G F8 coagulation factor VIII IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940
JBrowse link
G FAM3A FAM3 metabolism regulating signaling molecule A IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:154,506,164...154,516,257
Ensembl chr  X:154,506,159...154,516,242
JBrowse link
G FAM50A family with sequence similarity 50 member A IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:154,444,141...154,450,654
Ensembl chr  X:154,444,141...154,450,654
JBrowse link
G FLNA filamin A IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,638
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:154,531,390...154,547,569
Ensembl chr  X:154,531,391...154,547,572
JBrowse link
G GAB3 GRB2 associated binding protein 3 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:154,675,249...154,751,566
Ensembl chr  X:154,675,249...154,751,583
JBrowse link
G GDI1 GDP dissociation inhibitor 1 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:154,437,154...154,443,467
Ensembl chr  X:154,436,913...154,443,467
JBrowse link
G HCFC1 host cell factor C1 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:153,947,556...153,972,360
Ensembl chr  X:153,947,557...153,971,818
JBrowse link
G HMOX1 heme oxygenase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,207
JBrowse link
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:153,785,768...153,794,375
Ensembl chr  X:153,785,766...153,794,523
JBrowse link
G IFNG interferon gamma EXP CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046
JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:154,010,507...154,019,984
Ensembl chr  X:154,010,506...154,019,902
JBrowse link
G L1CAM L1 cell adhesion molecule IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,514...153,886,173
JBrowse link
G LAGE3 L antigen family member 3 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:154,477,769...154,479,257
Ensembl chr  X:154,477,769...154,479,257
JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103
JBrowse link
G MMP10 matrix metallopeptidase 10 severity IEP protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr11:102,770,502...102,780,628
Ensembl chr11:102,770,502...102,780,628
JBrowse link
G MMP2 matrix metallopeptidase 2 IEP protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G MMP9 matrix metallopeptidase 9 IEP protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G MPP1 membrane palmitoylated protein 1 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:154,778,684...154,805,485
Ensembl chr  X:154,778,684...154,821,007
JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080
JBrowse link
G OPN1LW opsin 1, long wave sensitive IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:154,144,243...154,159,032
Ensembl chr  X:154,144,243...154,159,032
JBrowse link
G OPN1MW opsin 1, medium wave sensitive IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:154,182,596...154,196,861
Ensembl chr  X:154,182,596...154,196,861
JBrowse link
G OPN1MW2 opsin 1, medium wave sensitive 2 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:154,219,756...154,233,286
Ensembl chr  X:154,219,756...154,233,286
JBrowse link
G PDZD4 PDZ domain containing 4 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:153,802,166...153,830,544
Ensembl chr  X:153,802,166...153,830,565
JBrowse link
G PEX13 peroxisomal biogenesis factor 13 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10441568 NCBI chr 2:61,017,720...61,051,990
Ensembl chr 2:61,017,225...61,051,990
JBrowse link
G PEX26 peroxisomal biogenesis factor 26 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12851857 NCBI chr22:18,077,990...18,105,396
Ensembl chr22:18,077,920...18,131,138
JBrowse link
G PLXNA3 plexin A3 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:154,458,281...154,477,779
Ensembl chr  X:154,458,281...154,477,779
JBrowse link
G PLXNB3 plexin B3 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:153,764,249...153,779,341
Ensembl chr  X:153,764,196...153,779,346
JBrowse link
G RENBP renin binding protein IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:153,935,263...153,944,643
Ensembl chr  X:153,935,269...153,944,687
JBrowse link
G RPL10 ribosomal protein L10 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:154,398,065...154,402,339
Ensembl chr  X:154,389,955...154,409,168
JBrowse link
G SLC10A3 solute carrier family 10 member 3 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:154,487,310...154,490,656
Ensembl chr  X:154,487,306...154,490,690
JBrowse link
G SLC6A8 solute carrier family 6 member 8 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:153,687,926...153,696,593
Ensembl chr  X:153,687,926...153,696,588
JBrowse link
G SMIM9 small integral membrane protein 9 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:154,823,348...154,834,662
Ensembl chr  X:154,823,348...154,834,662
JBrowse link
G SOD2 superoxide dismutase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G SRPK3 SRSF protein kinase 3 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:153,781,041...153,785,730
Ensembl chr  X:153,776,412...153,785,732
JBrowse link
G SSR4 signal sequence receptor subunit 4 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:153,794,159...153,798,512
Ensembl chr  X:153,793,516...153,798,499
JBrowse link
G TAZ tafazzin IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:154,411,539...154,421,726
Ensembl chr  X:154,411,524...154,421,726
JBrowse link
G TEX28 testis expressed 28 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:154,271,265...154,295,356
Ensembl chr  X:154,271,265...154,295,853
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 severity IEP protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr  X:47,582,408...47,586,789
Ensembl chr  X:47,582,408...47,586,789
JBrowse link
G TKTL1 transketolase like 1 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:154,295,795...154,330,350
Ensembl chr  X:154,295,795...154,330,350
JBrowse link
G TMEM187 transmembrane protein 187 IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:153,972,754...153,983,194
Ensembl chr  X:153,972,754...153,983,194
JBrowse link
G UBL4A ubiquitin like 4A IAGP ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:154,483,717...154,486,615
Ensembl chr  X:154,483,717...154,486,615
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 IAGP DNA:duplication:cds (human)
ClinVar Annotator: match by term: Leukodystrophy, adult-onset, autosomal dominant
ClinVar Annotator: match by term: Leukodystrophy, Adult-Onset
ClinVar
OMIM
PMID:16951681 PMID:19151023 PMID:21225301 PMID:21909802 PMID:23649844 PMID:25741868 PMID:28492532, PMID:16951681 RGD:10044243 NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020
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 IAGP ClinVar Annotator: match by term: Hereditary diffuse leukoencephalopathy with spheroids ClinVar
OMIM
PMID:2470618 PMID:8614507 PMID:16523341 PMID:19153373 PMID:22197934 PMID:23408870 PMID:23411710 PMID:23649896 PMID:23816250 PMID:24034409 PMID:24088041 PMID:24094860 PMID:24198292 PMID:24336230 PMID:24532199 PMID:25012610 PMID:25311247 PMID:25741868 PMID:26633545 PMID:28492532 PMID:29389947 NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372
JBrowse link
G LOC111188152 CSF1R promoter E1 IAGP ClinVar Annotator: match by term: Hereditary diffuse leukoencephalopathy with spheroids ClinVar NCBI chr 5:150,113,270...150,114,048 JBrowse link
G LOC111188154 enhancer in exon 7 of CSF1R IAGP ClinVar Annotator: match by term: Hereditary diffuse leukoencephalopathy with spheroids ClinVar PMID:28492532 NCBI chr 5:150,077,995...150,078,215 JBrowse link
G LOC111188156 CSF1R promoter/intronic regulatory region IAGP ClinVar Annotator: match by term: Hereditary diffuse leukoencephalopathy with spheroids ClinVar NCBI chr 5:150,081,538...150,086,859 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 IAGP
EXP
ClinVar Annotator: match by term: Alexander's disease
ClinVar Annotator: match by term: Alexander Disease
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:1250985 PMID:1941292 PMID:11138011 PMID:11398833 PMID:11567214 PMID:11587071 PMID:11595337 PMID:11867077 PMID:12026242 PMID:12034785 PMID:12034796 PMID:12368989 PMID:12447932 PMID:12581808 PMID:12638020 PMID:12944715 PMID:12975300 PMID:14550921 PMID:14557587 PMID:15030911 PMID:15390001 PMID:15465095 PMID:15477559 PMID:15675360 PMID:15696488 PMID:15732097 PMID:15732098 PMID:16168593 PMID:16168595 PMID:16217707 PMID:16240361 PMID:16505300 PMID:16826512 PMID:16996408 PMID:17043438 PMID:17110673 PMID:17156703 PMID:17383133 PMID:17438228 PMID:17509491 PMID:17629821 PMID:17703343 PMID:17805552 PMID:17894839 PMID:17934883 PMID:17960815 PMID:17985264 PMID:18054694 PMID:18079314 PMID:18217876 PMID:18388212 PMID:18402384 PMID:18495313 PMID:18581469 PMID:18584981 PMID:18653683 PMID:18684770 PMID:19128991 PMID:19418047 PMID:19618846 PMID:19672978 PMID:19948199 PMID:20849398 PMID:21041050 PMID:21132324 PMID:21165639 PMID:21270471 PMID:21533827 PMID:21572052 PMID:21822933 PMID:21917775 PMID:21940697 PMID:21987397 PMID:22140645 PMID:22198646 PMID:22302460 PMID:22488673 PMID:22566711 PMID:22619055 PMID:22818990 PMID:23149175 PMID:23185175 PMID:23254569 PMID:23430549 PMID:23634874 PMID:23706596 PMID:23743246 PMID:23903069 PMID:23925719 PMID:24045243 PMID:24188966 PMID:24306001 PMID:24427505 PMID:24742911 PMID:24755947 PMID:25741868 PMID:26467025 PMID:26478912 PMID:26486469 PMID:28492532 PMID:28953922 PMID:30311386 PMID:31484723 PMID:219025661 NCBI chr17:44,903,159...44,915,552
Ensembl chr17:44,903,159...44,916,937
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 IEP RGD PMID:20680636 RGD:5148026 NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771
JBrowse link
G EDAR ectodysplasin A receptor IAGP ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 PMID:28492532 NCBI chr 2:108,894,471...108,989,256
Ensembl chr 2:108,894,471...108,989,372
JBrowse link
G FANCI FA complementation group I IAGP ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type)
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
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 chr15:89,243,973...89,317,259
Ensembl chr15:89,243,945...89,317,261
Ensembl chr15:89,243,945...89,317,261
JBrowse link
G MIR6766 microRNA 6766 IAGP ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr15:89,326,739...89,326,810
Ensembl chr15:89,326,739...89,326,810
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit susceptibility IAGP
EXP
DNA:mutations:cds:
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive
DNA:missense mutation:cds:p.P1073L (3218C>T) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type)
DNA:missense mutations:cds:
ClinVar
CTD
OMIM
PMID:632821 PMID:1582434 PMID:2067633 PMID:2725645 PMID:8884268 PMID:9500334 PMID:11431686 PMID:11571332 PMID:11897778 PMID:12073019 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14467368 PMID:14557557 PMID:14635118 PMID:14694057 PMID:14745080 PMID:15122711 PMID:15181170 PMID:15258572 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15534189 PMID:15689359 PMID:15800909 PMID:15824347 PMID:15913923 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16080118 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16715201 PMID:16857757 PMID:16919951 PMID:16929381 PMID:16940310 PMID:16943369 PMID:16957900 PMID:17067213 PMID:17088268 PMID:17280874 PMID:17426723 PMID:17436221 PMID:17438011 PMID:17452231 PMID:17502560 PMID:17538929 PMID:17846414 PMID:17894835 PMID:17923349 PMID:17950645 PMID:17980715 PMID:18156159 PMID:18195149 PMID:18195151 PMID:18294203 PMID:18321754 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18716558 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19125351 PMID:19189930 PMID:19195941 PMID:19251978 PMID:19275594 PMID:19307547 PMID:19344718 PMID:19364868 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19762913 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19837034 PMID:19862739 PMID:20138553 PMID:20142534 PMID:20153822 PMID:20176107 PMID:20185557 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20438629 PMID:20513108 PMID:20576279 PMID:20601675 PMID:20691285 PMID:20701905 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20837862 PMID:20843780 PMID:20883824 PMID:20981092 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21236670 PMID:21259344 PMID:21276947 PMID:21282586 PMID:21301859 PMID:21305355 PMID:21357833 PMID:21455106 PMID:21515089 PMID:21550804 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21696159 PMID:21704543 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21953457 PMID:21956653 PMID:21993618 PMID:22000311 PMID:22006280 PMID:22114710 PMID:22166854 PMID:22176657 PMID:22189570 PMID:22237560 PMID:22277967 PMID:22334187 PMID:22342071 PMID:22357363 PMID:22470557 PMID:22494076 PMID:22552686 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22778364 PMID:22863191 PMID:22931735 PMID:22933815 PMID:22987704 PMID:22995991 PMID:23066759 PMID:23077218 PMID:23084792 PMID:23208208 PMID:23212759 PMID:23248042 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23426270 PMID:23430834 PMID:23446635 PMID:23446645 PMID:23448099 PMID:23524600 PMID:23545419 PMID:23665194 PMID:23719791 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23873972 PMID:23921535 PMID:24033266 PMID:24091540 PMID:24099403 PMID:24122062 PMID:24259288 PMID:24265579 PMID:24272679 PMID:24288107 PMID:24331360 PMID:24508722 PMID:24642831 PMID:24725338 PMID:24841123 PMID:25025039 PMID:25065347 PMID:25118206 PMID:25203713 PMID:25281868 PMID:25286830 PMID:25356970 PMID:25462018 PMID:25466440 PMID:25488682 PMID:25585994 PMID:25660390 PMID:25713120 PMID:25741868 PMID:25771874 PMID:25850945 PMID:25914719 PMID:25940035 PMID:26050231 PMID:26077851 PMID:26095671 PMID:26104464 PMID:26169155 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26557169 PMID:26607151 PMID:26735972 PMID:26755490 PMID:26942291 PMID:26942292 PMID:26968897 PMID:27016405 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27290639 PMID:27345795 PMID:27381400 PMID:27422324 PMID:27450679 PMID:27538604 PMID:27538665 PMID:27822509 PMID:27826120 PMID:27838477 PMID:27854218 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28206745 PMID:28284481 PMID:28337550 PMID:28471437 PMID:28480171 PMID:28492532 PMID:28634151 PMID:28771251 PMID:28776642 PMID:28812649 PMID:28815208 PMID:28837072 PMID:28865037 PMID:28901595 PMID:28958595 PMID:29029963 PMID:29190809 PMID:29272804 PMID:29278894 PMID:29302508 PMID:29341116 PMID:29358615 PMID:29423831 PMID:29474836 PMID:29482223 PMID:29574624 PMID:29588995 PMID:29644085 PMID:29712893 PMID:29915382 PMID:29920680 PMID:29950568 PMID:29992832 PMID:30021052 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30311386 PMID:30373890 PMID:30423451 PMID:30831263 PMID:30843307, PMID:15689359, PMID:20142534, PMID:16896309, PMID:22237560 RGD:8694184, RGD:15039298, RGD:8694317, RGD:8694284 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G RLBP1 retinaldehyde binding protein 1 IAGP ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar NCBI chr15:89,209,869...89,223,179
Ensembl chr15:89,209,869...89,221,614
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 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907
JBrowse link
G NOTCH3 notch receptor 3 EXP
IAGP
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 chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
JBrowse link
CADASIL 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIR6795 microRNA 6795 IAGP ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 ClinVar NCBI chr19:15,179,283...15,179,350
Ensembl chr19:15,179,283...15,179,350
JBrowse link
G NOTCH3 notch receptor 3 IAGP ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1
ClinVar Annotator: match by term: Recurrent subcortical infarcts
OMIM
ClinVar
PMID:3484396 PMID:8878478 PMID:9388399 PMID:10227618 PMID:10371548 PMID:10712431 PMID:10716263 PMID:10854111 PMID:10969905 PMID:11102981 PMID:11486103 PMID:11559313 PMID:11706120 PMID:11715067 PMID:11755616 PMID:11757773 PMID:11771160 PMID:11784372 PMID:12136071 PMID:12146805 PMID:12196662 PMID:12482954 PMID:12721871 PMID:12754354 PMID:12810003 PMID:12821756 PMID:12821764 PMID:14714274 PMID:15229130 PMID:15287509 PMID:15350543 PMID:15364702 PMID:15378071 PMID:15694192 PMID:15776792 PMID:15834039 PMID:15857853 PMID:15981641 PMID:15995828 PMID:16009764 PMID:16580020 PMID:16717210 PMID:16730748 PMID:16864835 PMID:17122431 PMID:17323840 PMID:17390743 PMID:17879447 PMID:18765654 PMID:18948701 PMID:19006080 PMID:19043263 PMID:19174371 PMID:19180562 PMID:19242647 PMID:19245392 PMID:19252787 PMID:19259619 PMID:19293235 PMID:19359623 PMID:19417009 PMID:19528524 PMID:19542611 PMID:19576955 PMID:19825845 PMID:20038773 PMID:20071773 PMID:20167921 PMID:20301673 PMID:20851625 PMID:20857162 PMID:20935329 PMID:20981092 PMID:21387384 PMID:21555590 PMID:21616505 PMID:21737310 PMID:21852154 PMID:21940951 PMID:22006983 PMID:22019870 PMID:22082899 PMID:22153900 PMID:22159056 PMID:22218279 PMID:22367839 PMID:22373597 PMID:22623959 PMID:22664156 PMID:22795385 PMID:22878905 PMID:22936449 PMID:23025651 PMID:23412372 PMID:23584202 PMID:23602593 PMID:23639391 PMID:23649698 PMID:23844775 PMID:23847153 PMID:24033266 PMID:24086431 PMID:24139282 PMID:24344756 PMID:24425116 PMID:24886907 PMID:24929957 PMID:24936512 PMID:25260786 PMID:25326637 PMID:25344745 PMID:25412914 PMID:25604251 PMID:25623805 PMID:25741868 PMID:25801821 PMID:25819272 PMID:25834748 PMID:25870235 PMID:25929831 PMID:25973016 PMID:25980907 PMID:26002683 PMID:26261665 PMID:26270344 PMID:26308724 PMID:26368811 PMID:26467025 PMID:26646783 PMID:26715087 PMID:26806700 PMID:26850715 PMID:26856460 PMID:26889213 PMID:26894465 PMID:27174004 PMID:27293347 PMID:27350778 PMID:27423596 PMID:27770446 PMID:27844030 PMID:27881154 PMID:27884173 PMID:27890607 PMID:28334938 PMID:28479817 PMID:28492532 PMID:28601945 PMID:28710804 PMID:28991717 PMID:29188607 PMID:29449082 PMID:29980472 PMID:30311053 PMID:30311386 PMID:30402942 PMID:30956055 PMID:31028544 PMID:32581362 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
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 IAGP ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 ClinVar
OMIM
PMID:19387015 PMID:25741868 PMID:26063658 PMID:30981321 PMID:32101834 PMID:32581362 NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907
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
IAGP
EXP
ClinVar Annotator: match by term: Spongy degeneration of central nervous system
ClinVar Annotator: match by term: Canavan Disease, Familial Form
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
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, PMID:15857674, PMID:8252036 RGD:1599298, RGD:1599291 NCBI chr17:3,473,646...3,503,405
Ensembl chr17:3,472,374...3,503,405
JBrowse link
G CSPG4 chondroitin sulfate proteoglycan 4 ISO RGD PMID:19739253 RGD:5686858 NCBI chr15:75,674,322...75,712,848
Ensembl chr15:75,674,322...75,712,848
JBrowse link
G CTNS cystinosin, lysosomal cystine transporter IAGP ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,661,542
Ensembl chr17:3,636,459...3,661,542
Ensembl chr17:3,636,459...3,661,542
JBrowse link
G EMC6 ER membrane protein complex subunit 6 IAGP ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr17:3,668,812...3,669,665
Ensembl chr17:3,668,812...3,669,668
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO protein:decreased expression:cerebellum, brain stem RGD PMID:15016427 RGD:6484588 NCBI chr10:87,050,202...87,094,843
Ensembl chr10:87,050,202...87,094,843
JBrowse link
G HASPIN histone H3 associated protein kinase IAGP ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr17:3,723,903...3,726,699
Ensembl chr17:3,723,903...3,726,699
JBrowse link
G ITGAE integrin subunit alpha E IAGP ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr17:3,714,628...3,803,766
Ensembl chr17:3,714,628...3,801,188
JBrowse link
G P2RX5 purinergic receptor P2X 5 IAGP ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr17:3,673,227...3,696,155
Ensembl chr17:3,672,199...3,696,240
JBrowse link
G P2RX5-TAX1BP3 P2RX5-TAX1BP3 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr17:3,662,893...3,696,404
Ensembl chr17:3,663,063...3,696,194
JBrowse link
G SHPK sedoheptulokinase IAGP ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr17:3,608,240...3,636,250
Ensembl chr17:3,608,240...3,636,250
Ensembl chr17:3,608,240...3,636,250
Ensembl chr17:3,608,240...3,636,250
JBrowse link
G SOD2 superoxide dismutase 2 ISS OMIM:271900 MouseDO NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G SPATA22 spermatogenesis associated 22 IAGP 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 chr17:3,440,019...3,513,858
Ensembl chr17:3,440,019...3,513,852
JBrowse link
G TAX1BP3 Tax1 binding protein 3 IAGP ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr17:3,662,895...3,668,578
Ensembl chr17:3,662,895...3,668,679
JBrowse link
G TRPV1 transient receptor potential cation channel subfamily V member 1 IAGP ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr17:3,565,446...3,609,411
Ensembl chr17:3,565,444...3,609,411
JBrowse link
G TRPV3 transient receptor potential cation channel subfamily V member 3 IAGP ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr17:3,510,502...3,557,812
Ensembl chr17:3,510,502...3,557,995
Ensembl chr17:3,510,502...3,557,995
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 ARMS2 age-related maculopathy susceptibility 2 IAGP ClinVar Annotator: match by term: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ClinVar PMID:18316707 PMID:26467025 NCBI chr10:122,454,653...122,457,352
Ensembl chr10:122,454,653...122,457,352
JBrowse link
G HTRA1 HtrA serine peptidase 1 IAGP ClinVar Annotator: match by term: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease
ClinVar Annotator: match by term: CARASIL
ClinVar
OMIM
PMID:11889251 PMID:18316707 PMID:19387015 PMID:21115960 PMID:21482952 PMID:22900900 PMID:23963851 PMID:24500651 PMID:24535794 PMID:25741868 PMID:25770224 PMID:25772074 PMID:25957642 PMID:26063658 PMID:26467025 PMID:27164673 PMID:32101834 PMID:32581362 NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907
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 IAGP ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr11:72,106,372...72,112,780
Ensembl chr11:72,106,378...72,112,780
JBrowse link
G DEFB108B defensin beta 108B IAGP ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr11:71,833,200...71,837,710
Ensembl chr11:71,833,200...71,837,710
JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868
JBrowse link
G FAM86C1P family with sequence similarity 86 member C1, pseudogene IAGP ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr11:71,787,506...71,801,239
Ensembl chr11:71,787,510...71,801,237
JBrowse link
G FOLR1 folate receptor alpha IAGP ClinVar Annotator: match by term: Cerebral folate deficiency
ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency
ClinVar
OMIM
PMID:18842806 PMID:19732866 PMID:20018644 PMID:20683905 PMID:21752681 PMID:21937992 PMID:22586289 PMID:22695967 PMID:24556562 PMID:25741868 PMID:26467025 PMID:27535533 PMID:27781028 PMID:27884173 PMID:28054128 PMID:28492532 PMID:29661558 NCBI chr11:72,189,709...72,196,323
Ensembl chr11:72,189,558...72,196,323
JBrowse link
G FOLR3 folate receptor gamma IAGP ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr11:72,135,725...72,139,892
Ensembl chr11:72,114,869...72,139,892
JBrowse link
G IL18BP interleukin 18 binding protein IAGP ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr11:71,997,944...72,002,919
Ensembl chr11:71,998,613...72,005,715
JBrowse link
G KRTAP5-10 keratin associated protein 5-10 IAGP ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr11:71,565,563...71,566,735
Ensembl chr11:71,565,563...71,566,735
JBrowse link
G KRTAP5-11 keratin associated protein 5-11 IAGP ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr11:71,581,855...71,582,875
Ensembl chr11:71,579,714...71,603,353
JBrowse link
G KRTAP5-7 keratin associated protein 5-7 IAGP ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr11:71,527,267...71,528,669
Ensembl chr11:71,527,267...71,528,669
JBrowse link
G KRTAP5-8 keratin associated protein 5-8 IAGP ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr11:71,538,025...71,539,209
Ensembl chr11:71,538,025...71,539,209
JBrowse link
G KRTAP5-9 keratin associated protein 5-9 IAGP ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr11:71,548,420...71,549,608
Ensembl chr11:71,548,418...71,549,553
Ensembl chr11:71,548,418...71,549,553
JBrowse link
G LAMTOR1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 IAGP ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr11:72,097,292...72,103,297
Ensembl chr11:72,085,895...72,103,297
JBrowse link
G LRTOMT leucine rich transmembrane and O-methyltransferase domain containing IAGP ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr11:72,080,342...72,110,782
Ensembl chr11:72,080,337...72,096,895
Ensembl chr11:72,080,337...72,096,895
JBrowse link
G NADSYN1 NAD synthetase 1 IAGP ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr11:71,453,203...71,501,816
Ensembl chr11:71,453,109...71,524,107
JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 IAGP ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr11:72,002,864...72,080,686
Ensembl chr11:72,002,864...72,080,693
JBrowse link
G RNF121 ring finger protein 121 IAGP ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr11:71,928,701...71,997,597
Ensembl chr11:71,929,018...71,997,597
JBrowse link
G ZNF705E zinc finger protein 705E IAGP ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr11:71,814,039...71,821,548
Ensembl chr11:71,814,045...71,821,548
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 IAGP ClinVar Annotator: match by term: Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia ClinVar
OMIM
PMID:16001442 PMID:20181727 NCBI chr  X:48,801,398...48,824,982
Ensembl chr  X:48,801,377...48,824,982
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 IAGP ClinVar Annotator: match by term: Clark-Baraitser syndrome ClinVar PMID:25741868 NCBI chr 5:14,143,342...14,510,204
Ensembl chr 5:14,143,342...14,532,128
JBrowse link
G TRIP12 thyroid hormone receptor interactor 12 IAGP ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 49
ClinVar Annotator: match by term: Clark-Baraitser syndrome
ClinVar
OMIM
PMID:3812552 PMID:25363768 PMID:25741868 PMID:27848077 PMID:28251352 PMID:28660352 PMID:31814248 NCBI chr 2:229,763,837...229,923,234
Ensembl chr 2:229,763,837...229,923,239
Ensembl chr 2:229,763,837...229,923,239
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 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cole-Carpenter syndrome
CTD
ClinVar
PMID:25741868 NCBI chr17:81,843,159...81,860,535
Ensembl chr17:81,843,161...81,860,624
JBrowse link
G SEC24D SEC24 homolog D, COPII coat complex component EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:118,722,823...118,838,683
Ensembl chr 4:118,722,823...118,838,683
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 IAGP ClinVar Annotator: match by term: Cole-Carpenter syndrome 1 ClinVar
OMIM
PMID:25683117 NCBI chr17:81,843,159...81,860,535
Ensembl chr17:81,843,161...81,860,624
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 IAGP ClinVar Annotator: match by term: Cole-carpenter syndrome 2
ClinVar Annotator: match by term: Cole-Carpenter syndrome 2
ClinVar
OMIM
PMID:25683121 PMID:26467156 PMID:27942778 PMID:30462379 NCBI chr 4:118,722,823...118,838,683
Ensembl chr 4:118,722,823...118,838,683
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 IAGP ClinVar Annotator: match by term: Communicating hydrocephalus ClinVar PMID:30311386 NCBI chr 1:61,077,227...61,462,788
Ensembl chr 1:60,865,259...61,462,788
JBrowse link
G TMEM67 transmembrane protein 67 ISO RGD PMID:30705305 RGD:14995942 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
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 IAGP ClinVar Annotator: match by term: HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1 ClinVar
OMIM
PMID:29983323 NCBI chr 3:32,817,997...32,897,824
Ensembl chr 3:32,817,997...32,897,824
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 IAGP 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 1:75,724,709...75,763,679
Ensembl chr 1:75,724,347...75,787,575
JBrowse link
G MPDZ multiple PDZ domain crumbs cell polarity complex component IAGP ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive 2
ClinVar Annotator: match by term: Hydrocephalus, congenital, 2, with or without brain or eye anomalies
ClinVar
OMIM
PMID:23240096 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28556411 PMID:32860008 NCBI chr 9:13,105,296...13,279,692
Ensembl chr 9:13,105,704...13,279,590
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 IAGP ClinVar Annotator: match by term: HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES ClinVar
OMIM
PMID:25558065 PMID:25741868 PMID:28556411 NCBI chr17:1,716,523...1,738,585
Ensembl chr17:1,716,523...1,738,599
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 IAGP 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 chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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 IAGP ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:28492532 PMID:28625504 PMID:31474318 NCBI chr 2:231,198,628...231,394,991
Ensembl chr 2:231,198,546...231,376,848
Ensembl chr 2:231,198,546...231,376,848
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Dandy-Walker malformation ClinVar PMID:4386970 PMID:5771505 PMID:16372351 PMID:16523510 PMID:16804887 PMID:16825433 PMID:17551924 PMID:18039235 PMID:18413255 PMID:19206169 PMID:23875798 PMID:24033266 PMID:31474318 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G CHN1 chimerin 1 IAGP ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr 2:174,798,809...175,005,381
Ensembl chr 2:174,799,313...175,005,381
Ensembl chr 2:174,799,313...175,005,381
JBrowse link
G DPH1 diphthamide biosynthesis 1 IAGP ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25558065 NCBI chr17:2,030,112...2,043,898
Ensembl chr17:2,030,110...2,043,430
JBrowse link
G DPYSL5 dihydropyrimidinase like 5 IAGP ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351
JBrowse link
G FOXC1 forkhead box C1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19668217 NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897
JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646
JBrowse link
G KIAA1109 KIAA1109 IAGP ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25558065 NCBI chr 4:122,152,331...122,362,752
Ensembl chr 4:122,152,333...122,362,758
JBrowse link
G KIF1A kinesin family member 1A IAGP ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293
Ensembl chr 2:240,713,761...240,824,293
JBrowse link
G KMT2D lysine methyltransferase 2D IAGP ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr12:49,018,975...49,060,884
Ensembl chr12:49,018,978...49,060,794
Ensembl chr12:49,018,978...49,060,794
JBrowse link
G L1CAM L1 cell adhesion molecule IAGP ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:7562969 PMID:8062435 PMID:11772994 PMID:28492532 PMID:30311386 NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,514...153,886,173
JBrowse link
G MAGED2 MAGE family member D2 IAGP ClinVar Annotator: match by term: Dandy-Walker cyst ClinVar NCBI chr  X:54,807,745...54,816,015
Ensembl chr  X:54,807,599...54,816,015
JBrowse link
G MID1 midline 1 IAGP ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr  X:10,445,310...10,833,683
Ensembl chr  X:10,445,310...10,833,654
JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP 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 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
JBrowse link
G PIBF1 progesterone immunomodulatory binding factor 1 IAGP ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:30858804 PMID:31474318 NCBI chr13:72,782,133...73,016,461
Ensembl chr13:72,782,133...73,016,461
JBrowse link
G PPP1CB protein phosphatase 1 catalytic subunit beta IAGP 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 chr 2:28,751,604...28,802,940
Ensembl chr 2:28,751,640...28,802,940
JBrowse link
G PUS3 pseudouridine synthase 3 IAGP ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chr11:125,893,485...125,903,219
Ensembl chr11:125,893,485...125,903,221
JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase IAGP ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chr 3:47,016,431...47,164,113
Ensembl chr 3:47,016,429...47,164,113
Ensembl chr 3:47,016,429...47,164,113
JBrowse link
G TMEM47 transmembrane protein 47 IAGP ClinVar Annotator: match by term: Dandy-Walker cyst ClinVar NCBI chr  X:34,627,075...34,657,285
Ensembl chr  X:34,627,075...34,657,285
JBrowse link
G TUBA1A tubulin alpha 1a IAGP 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 chr12:49,184,795...49,189,080
Ensembl chr12:49,184,795...49,189,080
JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr 4:6,260,368...6,303,265
Ensembl chr 4:6,269,849...6,303,265
JBrowse link
G ZIC1 Zic family member 1 IAGP
ISS
OMIM:220200 MouseDO PMID:15338008 RGD:1599905 NCBI chr 3:147,409,365...147,416,719
Ensembl chr 3:147,393,422...147,510,293
JBrowse link
G ZIC4 Zic family member 4 ISS OMIM:220200 MouseDO NCBI chr 3:147,386,046...147,407,476
Ensembl chr 3:147,386,046...147,406,809
Ensembl chr 3:147,386,046...147,406,809
JBrowse link
G ZNF423 zinc finger protein 423 ISS OMIM:220200 MouseDO NCBI chr16:49,487,524...49,857,919
Ensembl chr16:49,487,524...49,857,919
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 IAGP ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:30311386 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,582,057...154,628,013
JBrowse link
G ADD1 adducin 1 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 4:2,843,844...2,930,065
Ensembl chr 4:2,843,857...2,930,076
JBrowse link
G AK7 adenylate kinase 7 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr14:96,392,111...96,489,427
Ensembl chr14:96,392,128...96,489,427
JBrowse link
G AK8 adenylate kinase 8 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 9:132,725,574...132,879,046
Ensembl chr 9:132,725,578...132,878,777
JBrowse link
G AQP1 aquaporin 1 (Colton blood group) disease_progression ISO RGD PMID:21135737 RGD:5148011 NCBI chr 7:30,911,853...30,925,516
Ensembl chr 7:30,911,853...30,925,517
Ensembl chr 7:30,911,853...30,925,517
JBrowse link
G AQP4 aquaporin 4 disease_progression ISO RGD PMID:21135737 RGD:5148011 NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771
JBrowse link
G ARID1B AT-rich interaction domain 1B ISO RGD PMID:28867767 RGD:13439722 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:22842232 PMID:25741868 PMID:26297560 PMID:26410222 PMID:28492532 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497
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 chr 2:241,558,745...241,574,131
Ensembl chr 2:241,551,424...241,574,131
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP 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 chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP 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 chr17:43,044,295...43,125,364
Ensembl chr17:43,044,295...43,170,245
JBrowse link
G CCDC39 coiled-coil domain containing 39 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 3:180,614,008...180,679,489
Ensembl chr 3:180,614,008...180,870,933
Ensembl chr 3:180,614,008...180,870,933
JBrowse link
G CCDC85C coiled-coil domain containing 85C ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr14:99,500,190...99,604,207
Ensembl chr14:99,500,190...99,604,207
JBrowse link
G CCDC88C coiled-coil domain containing 88C IAGP ClinVar Annotator: match by term: Hydrocephalus
ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive
ClinVar
OMIM
PMID:21031079 PMID:23042809 PMID:25062847 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29225145 NCBI chr14:91,271,323...91,417,820
Ensembl chr14:91,271,323...91,417,844
JBrowse link
G CCND2 cyclin D2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353
Ensembl chr12:4,269,771...4,305,353
JBrowse link
G CDK8 cyclin dependent kinase 8 IAGP ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:25741868 NCBI chr13:26,254,125...26,405,238
Ensembl chr13:26,254,104...26,405,238
JBrowse link
G CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 1:109,249,539...109,275,751
Ensembl chr 1:109,249,539...109,275,751
JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector 1 IAGP ClinVar Annotator: match by term: Hydrocephaly ClinVar PMID:25407461 PMID:25741868 PMID:26092869 PMID:28125082 PMID:28492532 PMID:30311386 NCBI chr 5:37,063,928...37,249,499
Ensembl chr 5:37,106,228...37,249,421
Ensembl chr 5:37,106,228...37,249,421
JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A EXP CTD Direct Evidence: marker/mechanism CTD PMID:22522421 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504
Ensembl chr 7:16,087,525...16,502,504
JBrowse link
G DOCK6 dedicator of cytokinesis 6 IAGP ClinVar Annotator: match by term: Hydrocephalus ClinVar NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524
JBrowse link
G DPCD deleted in primary ciliary dyskinesia homolog (mouse) ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr10:101,588,321...101,609,662
Ensembl chr10:101,570,560...101,609,662
JBrowse link
G E2F5 E2F transcription factor 5 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 8:85,177,154...85,214,518
Ensembl chr 8:85,177,154...85,217,158
JBrowse link
G FOXC1 forkhead box C1 ISO RGD PMID:9635428 RGD:8662364 NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897
JBrowse link
G FZD3 frizzled class receptor 3 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 8:28,494,212...28,574,268
Ensembl chr 8:28,494,205...28,574,267
JBrowse link
G GDNF glial cell derived neurotrophic factor IAGP ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:30311386 NCBI chr 5:37,812,677...37,840,044
Ensembl chr 5:37,812,677...37,840,041
JBrowse link
G GLDC glycine decarboxylase ISO RGD PMID:25736695 RGD:12904662 NCBI chr 9:6,532,467...6,645,729
Ensembl chr 9:6,532,464...6,645,783
Ensembl chr 9:6,532,464...6,645,783
JBrowse link
G HMGB1 high mobility group box 1 ISO RGD PMID:22116431 RGD:10402405 NCBI chr13:30,456,704...30,617,597
Ensembl chr13:30,456,704...30,617,597
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:15964663 RGD:1624238 NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737
JBrowse link
G HYDIN HYDIN axonemal central pair apparatus protein ISO
EXP
DNA:nonsense mutation:exon (mouse)
CTD Direct Evidence: marker/mechanism
CTD PMID:12719380 PMID:19029900, PMID:12719380 RGD:634487 NCBI chr16:70,802,084...71,230,722
Ensembl chr16:70,802,084...71,230,722
JBrowse link
G IFT122 intraflagellar transport 122 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20493458 NCBI chr 3:129,440,075...129,520,507
Ensembl chr 3:129,440,036...129,520,507
JBrowse link
G ITGB1 integrin subunit beta 1 ISO RGD PMID:19726708 RGD:2325325 NCBI chr10:32,900,318...32,958,230
Ensembl chr10:32,900,318...33,005,792
JBrowse link
G KCNT1 potassium sodium-activated channel subfamily T member 1 IAGP ClinVar Annotator: match by term: Hydrocephalus ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:135,702,185...135,795,502
Ensembl chr 9:135,702,185...135,795,508
JBrowse link
G KIF27 kinesin family member 27 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 9:83,832,795...83,921,544
Ensembl chr 9:83,834,099...83,921,465
JBrowse link
G L1CAM L1 cell adhesion molecule IEA
IAGP
OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219
ClinVar Annotator: match by term: X-linked hydrocephalus
MouseDO
ClinVar
PMID:7881431 PMID:9300653 PMID:25741868 PMID:31680349 NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,514...153,886,173
JBrowse link
G LLGL1 LLGL scribble cell polarity complex component 1 ISO RGD PMID:15037549 RGD:1300301 NCBI chr17:18,225,593...18,244,875
Ensembl chr17:18,225,635...18,244,875
JBrowse link
G LOC100507346 uncharacterized LOC100507346 IAGP ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:29983323 NCBI chr 9:95,463,609...95,470,019 JBrowse link
G MAN1B1 mannosidase alpha class 1B member 1 IAGP ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 9:137,086,941...137,109,183
Ensembl chr 9:137,086,985...137,109,183
JBrowse link
G MBOAT7 membrane bound O-acyltransferase domain containing 7 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr19:54,173,414...54,189,632
Ensembl chr19:54,173,412...54,189,882
JBrowse link
G MPDZ multiple PDZ domain crumbs cell polarity complex component IEA
IAGP
OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219
ClinVar Annotator: match by term: Congenital hydrocephalus
MouseDO
ClinVar
PMID:24033266 PMID:28492532 NCBI chr 9:13,105,296...13,279,692
Ensembl chr 9:13,105,704...13,279,590
JBrowse link
G NIN ninein IAGP ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:30311386 NCBI chr14:50,719,763...50,831,162
Ensembl chr14:50,719,763...50,831,162
Ensembl chr14:50,719,763...50,831,162
JBrowse link
G NME5 NME/NM23 family member 5 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 5:138,115,175...138,139,471
Ensembl chr 5:138,115,175...138,139,443
JBrowse link
G NME7 NME/NM23 family member 7 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 1:169,132,531...169,367,797
Ensembl chr 1:169,132,531...169,367,948
JBrowse link
G NTF3 neurotrophin 3 IEP protein:increased expression:cerebrospinal fluid (human) RGD PMID:11580868 RGD:1358755 NCBI chr12:5,432,108...5,495,299
Ensembl chr12:5,432,108...5,521,536
JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP ClinVar Annotator: match by term: Hydrocephaly ClinVar PMID:25741868 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538
JBrowse link
G POMK protein O-mannose kinase ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180
Ensembl chr 8:43,093,498...43,131,180
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 chr22:46,150,526...46,243,756
Ensembl chr22:46,150,521...46,243,756
JBrowse link
G PTCH1 patched 1 IAGP ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:28492532 PMID:29983323 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase IAGP ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:31474318 NCBI chr 3:47,016,431...47,164,113
Ensembl chr 3:47,016,429...47,164,113
Ensembl chr 3:47,016,429...47,164,113
JBrowse link
G SIN3A SIN3 transcription regulator family member A EXP CTD Direct Evidence: marker/mechanism CTD PMID:27399968 NCBI chr15:75,369,379...75,455,819
Ensembl chr15:75,369,379...75,455,842
JBrowse link
G SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 IAGP ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:29983323 NCBI chr 3:47,585,269...47,781,893
Ensembl chr 3:47,585,269...47,782,106
JBrowse link
G SOX3 SRY-box transcription factor 3 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr  X:140,502,985...140,505,069
Ensembl chr  X:140,502,985...140,505,069
Ensembl chr  X:140,502,985...140,505,069
JBrowse link
G STK36 serine/threonine kinase 36 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 2:218,672,049...218,702,717
Ensembl chr 2:218,672,069...218,702,716
JBrowse link
G TMEM67 transmembrane protein 67 ISO RGD PMID:30705305 RGD:14995942 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
JBrowse link
G TRIM71 tripartite motif containing 71 IAGP ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:29983323 NCBI chr 3:32,817,997...32,897,824
Ensembl chr 3:32,817,997...32,897,824
JBrowse link
G TXN thioredoxin EXP CTD Direct Evidence: marker/mechanism CTD PMID:31310794 NCBI chr 9:110,243,810...110,256,507
Ensembl chr 9:110,243,810...110,256,507
JBrowse link
G ULK4 unc-51 like kinase 4 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 3:41,246,599...41,962,103
Ensembl chr 3:41,246,599...41,962,130
JBrowse link
G WDR37 WD repeat domain 37 IAGP ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:31327508 PMID:31327510 PMID:31474318 NCBI chr10:1,056,385...1,132,372
Ensembl chr10:1,049,538...1,132,384
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 IAGP ClinVar Annotator: match by term: Hydrolethalus syndrome ClinVar PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 PMID:28492532 NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646
JBrowse link
G KIF7 kinesin family member 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21552264 NCBI chr15:89,627,977...89,663,086
Ensembl chr15:89,608,789...89,655,467
JBrowse link
G PUS3 pseudouridine synthase 3 IAGP ClinVar Annotator: match by term: Hydrolethalus syndrome ClinVar PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 PMID:28492532 NCBI chr11:125,893,485...125,903,219
Ensembl chr11:125,893,485...125,903,221
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 IAGP ClinVar Annotator: match by term: Hydrolethalus syndrome 1 OMIM
ClinVar
PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 PMID:28492532 NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646
JBrowse link
G KIF7 kinesin family member 7 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr15:89,627,977...89,663,086
Ensembl chr15:89,608,789...89,655,467
JBrowse link
G PUS3 pseudouridine synthase 3 IAGP ClinVar Annotator: match by term: Hydrolethalus syndrome 1 ClinVar PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 PMID:28492532 NCBI chr11:125,893,485...125,903,219
Ensembl chr11:125,893,485...125,903,221
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 IAGP ClinVar Annotator: match by term: Hydrolethalus syndrome 2 OMIM
ClinVar
PMID:21552264 PMID:25741868 PMID:28492532 NCBI chr15:89,627,977...89,663,086
Ensembl chr15:89,608,789...89,655,467
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 IAGP ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 10 ClinVar
OMIM
PMID:25741868 PMID:25865492 PMID:27130255 PMID:27860360 NCBI chr 1:225,919,878...225,924,250
Ensembl chr 1:225,919,877...225,924,340
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 IAGP ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 11 ClinVar
OMIM
PMID:610060 PMID:11013442 PMID:21131976 PMID:25741868 PMID:26151409 PMID:28327206 PMID:29567474 NCBI chr 6:43,517,089...43,562,407
Ensembl chr 6:43,509,702...43,562,419
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 IAGP ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 12 ClinVar
OMIM
PMID:25741868 PMID:26307567 PMID:27120463 NCBI chr11:119,067,792...119,081,972
Ensembl chr11:119,067,818...119,081,972
Ensembl chr11:119,067,818...119,081,972
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 IAGP ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 13 ClinVar
OMIM
PMID:26545878 NCBI chr11:86,302,229...86,345,943
Ensembl chr11:86,302,211...86,345,943
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 IAGP ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 14 ClinVar
OMIM
PMID:25741868 PMID:28931644 PMID:29868776 PMID:30311386 PMID:32860008 NCBI chr13:38,349,851...38,363,619
Ensembl chr13:38,349,849...38,363,619
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 IAGP ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 15 ClinVar
OMIM
PMID:25741868 PMID:29576217 NCBI chr 1:219,968,600...220,046,505
Ensembl chr 1:219,968,600...220,046,530
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 IAGP ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 16 ClinVar
OMIM
PMID:25741868 PMID:29186371 PMID:29444210 NCBI chr 7:12,211,294...12,243,367
Ensembl chr 7:12,211,270...12,243,367
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 IAGP ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 17 ClinVar
OMIM
PMID:29215095 NCBI chr 7:6,009,272...6,023,834
Ensembl chr 7:6,009,255...6,023,834
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 IAGP ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 18 OMIM
ClinVar
PMID:25741868 PMID:30620337 PMID:30620338 PMID:31186544 NCBI chr 1:224,183,240...224,193,441
Ensembl chr 1:224,175,756...224,193,441
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 IAGP ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE OMIM
ClinVar
PMID:25741868 PMID:31587869 NCBI chr 1:225,840,556...225,882,720
Ensembl chr 1:225,845,536...225,882,380
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 IAGP
EXP
ISO
DNA:missense mutations, nonsense mutation, frameshift mutation:cds:multiple (human)
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 2
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
DNA:missense mutation, frameshift mutations:cds:p.G236S, p.P131fs144X, p.L281fs285X (human)
DNA:missense mutation:cds:p.M282T (mouse)
DNA:snp:5' utr:c.-167A>G (human)
ClinVar
CTD
OMIM
PMID:8733901 PMID:15192806 PMID:16969684 PMID:17031678 PMID:17344063 PMID:18094336 PMID:18571143 PMID:20695017 PMID:21246605 PMID:21959080 PMID:22351697 PMID:22669416 PMID:22833003 PMID:23142375 PMID:24374284 PMID:25326635 PMID:25741868 PMID:26354221 PMID:27057822 PMID:27780564 PMID:28492532 PMID:29276893 PMID:29389947, PMID:15192806, PMID:18094336, PMID:16707726, PMID:21750683, PMID:21959080 RGD:13208525, RGD:13208581, RGD:13208580, RGD:13208533, RGD:13208526 NCBI chr 1:228,149,930...228,159,826
Ensembl chr 1:228,149,930...228,159,826
JBrowse link
G SNAP29 synaptosome associated protein 29 IAGP ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 2 ClinVar PMID:25356970 NCBI chr22:20,859,007...20,891,214
Ensembl chr22:20,859,007...20,891,214
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 IAGP OMIM NCBI chr17:41,966,795...41,977,740
Ensembl chr17:41,966,763...41,977,740
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 IAGP ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating 3
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 3
ClinVar
OMIM
PMID:21092922 PMID:23806086 PMID:24088041 PMID:24958424 PMID:25741868 PMID:26257172 NCBI chr 4:106,315,544...106,349,456
Ensembl chr 4:106,315,544...106,349,456
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 IAGP
EXP
DNA:mutation:exon: g.1512A>G(p.D29G)(human)
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 4
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:18571143 PMID:25741868 PMID:27405012, PMID:18571143 RGD:12910473 NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737
JBrowse link
G POLR3A RNA polymerase III subunit A IAGP ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 4 ClinVar PMID:29389947 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,969,251...78,029,515
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 IAGP ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:16446975 PMID:22995991 PMID:25741868 PMID:28492532 NCBI chr 2:201,182,885...201,229,406
Ensembl chr 2:201,182,898...201,229,406
Ensembl chr 2:201,182,898...201,229,406
JBrowse link
G FAM126A family with sequence similarity 126 member A IAGP ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar
OMIM
PMID:16951682 PMID:17928815 PMID:21911699 PMID:25741868 PMID:28492532 NCBI chr 7:22,895,848...23,014,133
Ensembl chr 7:22,889,371...23,014,130
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 IAGP ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 6 ClinVar
OMIM
PMID:3156966 PMID:3405308 PMID:7983175 PMID:12372733 PMID:16707859 PMID:18466252 PMID:18851904 PMID:20191564 PMID:21956287 PMID:23424103 PMID:23582646 PMID:23595291 PMID:24088041 PMID:24526230 PMID:24706558 PMID:24742798 PMID:24785942 PMID:24850488 PMID:24974158 PMID:25085639 PMID:25168210 PMID:25326635 PMID:25326637 PMID:25356970 PMID:25497598 PMID:25545912 PMID:25741868 PMID:25772097 PMID:26318963 PMID:26633545 PMID:26643067 PMID:27188707 PMID:28492532 PMID:28592043 PMID:28655586 PMID:28973395 PMID:29451896 PMID:30079973 PMID:32581362 NCBI chr19:6,494,319...6,502,848
Ensembl chr19:6,494,319...6,502,848
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 IAGP ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7 ClinVar PMID:25741868 NCBI chr 5:45,254,948...45,696,380
Ensembl chr 5:45,254,948...45,696,498
JBrowse link
G POLR3A RNA polymerase III subunit A IAGP ClinVar Annotator: match by term: Pol III-related leukodystrophy
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7
ClinVar Annotator: match by term: Dentoleukoencephalopathy
ClinVar Annotator: match by term: Leukodystrophy with oligodontia
ClinVar
OMIM
PMID:614258 PMID:12605447 PMID:17159124 PMID:20640464 PMID:21855841 PMID:22036171 PMID:25339210 PMID:25741868 PMID:26096995 PMID:26752647 PMID:27029625 PMID:27521716 PMID:27535217 PMID:28459997 PMID:28492532 PMID:30414627 PMID:30847471 PMID:31637490 PMID:32214227 PMID:32860008 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,969,251...78,029,515
JBrowse link
G POLR3B RNA polymerase III subunit B IAGP
EXP
ClinVar Annotator: match by term: Pol III-related leukodystrophy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22036172 PMID:23355746 PMID:25339210 PMID:25741868 PMID:26204956 NCBI chr12:106,357,712...106,510,198
Ensembl chr12:106,357,748...106,510,198
JBrowse link
G RPS24 ribosomal protein S24 IAGP ClinVar Annotator: match by term: Pol III-related leukodystrophy
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7
ClinVar PMID:25741868 PMID:27029625 NCBI chr10:78,033,863...78,056,806
Ensembl chr10:78,033,760...78,056,813
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 AC079385.1 novel transcript, antisense to POLR3B, RFX4 and RIC8B. IAGP ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism ClinVar PMID:25741868 PMID:28492532 NCBI chr12:106,496,410...106,774,831
Ensembl chr12:106,495,958...106,774,926
JBrowse link
G CHEK2 checkpoint kinase 2 IAGP 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 chr22:28,687,743...28,741,866
Ensembl chr22:28,687,743...28,742,422
JBrowse link
G POLR3B RNA polymerase III subunit B IAGP ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH HYPODONTIA AND HYPOGONADOTROPIC HYPOGONADISM
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism
ClinVar
OMIM
PMID:18851904 PMID:22036171 PMID:22036172 PMID:23355746 PMID:25133958 PMID:25339210 PMID:25741868 PMID:26204956 PMID:27512013 PMID:28492532 NCBI chr12:106,357,712...106,510,198
Ensembl chr12:106,357,748...106,510,198
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 IAGP ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 9 ClinVar
OMIM
PMID:24777941 PMID:25741868 PMID:27848944 PMID:28492532 PMID:28905880 PMID:30311386 PMID:30791064 NCBI chr 5:168,486,471...168,519,301
Ensembl chr 5:168,486,451...168,519,301
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 IAGP ClinVar Annotator: match by term: Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration ClinVar
OMIM
PMID:1734303 PMID:7898702 PMID:11479594 PMID:12058097 PMID:12510040 PMID:14638969 PMID:15565311 PMID:15659606 PMID:15834858 PMID:16272150 PMID:16437574 PMID:16450344 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 PMID:32581362 NCBI chr20:3,888,781...3,929,887
Ensembl chr20:3,888,839...3,929,882
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 IAGP ClinVar Annotator: match by term: Karak syndrome ClinVar PMID:16783378 NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778
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 IAGP ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:30311386 NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879
Ensembl chr  X:130,124,666...130,165,879
JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein IAGP ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:24462884 PMID:26104972 PMID:28492532 PMID:32581362 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166
JBrowse link
G ARSA arylsulfatase A IAGP 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 chr22:50,622,754...50,628,152
Ensembl chr22:50,622,754...50,628,173
JBrowse link
G CLCN2 chloride voltage-gated channel 2 ISS MouseDO NCBI chr 3:184,346,185...184,361,605
Ensembl chr 3:184,346,185...184,361,650
JBrowse link
G DEGS1 delta 4-desaturase, sphingolipid 1 IAGP ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868 PMID:30620337 PMID:31186544 NCBI chr 1:224,183,240...224,193,441
Ensembl chr 1:224,175,756...224,193,441
JBrowse link
G EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon IAGP ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868 NCBI chr 3:184,135,023...184,145,311
Ensembl chr 3:184,135,038...184,146,127
JBrowse link
G GALC galactosylceramidase IAGP 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 chr14:87,933,014...87,993,665
Ensembl chr14:87,837,820...87,993,665
JBrowse link
G KARS1 lysyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868 NCBI chr16:75,627,724...75,647,665
Ensembl chr16:75,627,474...75,648,643
JBrowse link
G MEN1 menin 1 IAGP ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:12652570 PMID:23321498 PMID:25741868 PMID:28492532 NCBI chr11:64,803,514...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
G MLC1 modulator of VRAC current 1 IAGP ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:11254442 PMID:11935341 PMID:30311386 NCBI chr22:50,059,391...50,085,875
Ensembl chr22:50,059,391...50,085,902
Ensembl chr22:50,059,391...50,085,902
JBrowse link
G PSEN1 presenilin 1 IAGP ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868 PMID:30311386 PMID:31153663 NCBI chr14:73,136,436...73,223,691
Ensembl chr14:73,136,418...73,223,691
JBrowse link
G RAB33A RAB33A, member RAS oncogene family IAGP ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:30311386 NCBI chr  X:130,110,633...130,184,873
Ensembl chr  X:130,171,962...130,184,870
JBrowse link
G SPTBN2 spectrin beta, non-erythrocytic 2 IAGP ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:30311386 NCBI chr11:66,682,496...66,729,361
Ensembl chr11:66,682,497...66,729,226
Ensembl chr11:66,682,497...66,729,226
JBrowse link
G TMEM63A transmembrane protein 63A IAGP ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868 PMID:31587869 NCBI chr 1:225,840,556...225,882,720
Ensembl chr 1:225,845,536...225,882,380
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 IAGP ClinVar Annotator: match by term: Leukodystrophy and acquired microcephaly with or without dystonia ClinVar PMID:25741868 NCBI chr19:39,498,947...39,508,469
Ensembl chr19:39,498,895...39,508,481
JBrowse link
G PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 IAGP ClinVar Annotator: match by term: Leukodystrophy and acquired microcephaly with or without dystonia ClinVar
OMIM
PMID:25741868 PMID:26573021 NCBI chr19:39,412,582...39,428,415
Ensembl chr19:39,412,669...39,428,415
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 IAGP ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter ClinVar PMID:25741868 NCBI chr  X:136,665,547...136,780,945
Ensembl chr  X:136,665,547...136,780,932
JBrowse link
G EIF2B1 eukaryotic translation initiation factor 2B subunit alpha IAGP ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter OMIM
ClinVar
PMID:11835386 PMID:15776425 PMID:16807905 PMID:18263758 PMID:25741868 PMID:25761052 PMID:25843247 PMID:26285592 PMID:28492532 NCBI chr12:123,620,406...123,633,686
Ensembl chr12:123,620,406...123,633,766
JBrowse link
G EIF2B2 eukaryotic translation initiation factor 2B subunit beta IAGP
EXP
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter
ClinVar Annotator: match by term: Ovarioleukodystrophy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:11704758 PMID:12707859 PMID:14566705 PMID:15054402 PMID:15060152 PMID:15136673 PMID:15776425 PMID:18263758 PMID:20301435 PMID:21484434 PMID:21560189 PMID:22128017 PMID:22430157 PMID:24033266 PMID:25741868 PMID:26740508 PMID:27159321 PMID:28492532 PMID:29632131 PMID:29706645 PMID:30266093, PMID:11704758 RGD:734925 NCBI chr14:75,002,921...75,012,366
Ensembl chr14:75,002,921...75,012,366
JBrowse link
G EIF2B3 eukaryotic translation initiation factor 2B subunit gamma IAGP ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter OMIM
ClinVar
PMID:11835386 PMID:18414213 PMID:19158808 PMID:20301435 PMID:21484434 PMID:22312164 PMID:23932106 PMID:24028880 PMID:25079571 PMID:25326635 PMID:25741868 PMID:25761052 PMID:26162493 PMID:26467025 PMID:28492532 PMID:31072091 NCBI chr 1:44,850,522...44,986,641
Ensembl chr 1:44,850,522...44,986,722
JBrowse link
G EIF2B4 eukaryotic translation initiation factor 2B subunit delta IAGP
EXP
ClinVar Annotator: match by term: Ovarioleukodystrophy
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:11835386 PMID:12707859 PMID:25741868 PMID:25761052 PMID:25843247 PMID:26467025 PMID:26553438 PMID:28008009 PMID:28492532 NCBI chr 2:27,364,352...27,370,341
Ensembl chr 2:27,364,352...27,370,486
Ensembl chr 2:27,364,352...27,370,486
JBrowse link
G EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon IAGP
EXP
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter
ClinVar Annotator: match by term: Ovarioleukodystrophy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9710032 PMID:11704758 PMID:12325082 PMID:12499492 PMID:12707859 PMID:14694060 PMID:15054402 PMID:15060152 PMID:15136673 PMID:15136689 PMID:15136690 PMID:15507143 PMID:15723074 PMID:15776425 PMID:16041584 PMID:16807905 PMID:17439913 PMID:17646634 PMID:18005052 PMID:18263758 PMID:18266750 PMID:18294360 PMID:18678442 PMID:18813718 PMID:18845387 PMID:19023445 PMID:19531691 PMID:19625339 PMID:20301435 PMID:20838246 PMID:20958979 PMID:20975056 PMID:21307862 PMID:21484434 PMID:21560189 PMID:22238342 PMID:22699478 PMID:22952606 PMID:24033266 PMID:24482476 PMID:24938145 PMID:25089094 PMID:25326635 PMID:25525159 PMID:25741868 PMID:25761052 PMID:26112719 PMID:26467025 PMID:26671108 PMID:28492532 PMID:28953922, PMID:11704758 RGD:734925 NCBI chr 3:184,135,023...184,145,311
Ensembl chr 3:184,135,038...184,146,127
JBrowse link
G EIF2B5-DT EIF2B5 divergent transcript IAGP ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter ClinVar NCBI chr 3:184,073,423...184,135,323 JBrowse link
G MLH3 mutL homolog 3 IAGP ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter ClinVar PMID:25741868 NCBI chr14:75,013,764...75,051,479
Ensembl chr14:75,013,769...75,051,532
Ensembl chr14:75,013,769...75,051,532
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 IAGP ClinVar Annotator: match by term: Meckel syndrome type 7
ClinVar Annotator: match by term: Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia
OMIM
ClinVar
PMID:12872122 PMID:17855640 PMID:18371931 PMID:20007846 PMID:23188109 PMID:23559409 PMID:24033266 PMID:25741868 PMID:26184788 PMID:26673778 PMID:27894351 PMID:28492532 PMID:30311386 NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,414
JBrowse link
G NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Meckel syndrome type 7
ClinVar Annotator: match by term: Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia
ClinVar PMID:12872122 PMID:17855640 PMID:18371931 PMID:20007846 PMID:23188109 PMID:23559409 PMID:24033266 PMID:25741868 PMID:26184788 PMID:26673778 PMID:27894351 PMID:28492532 PMID:30311386 NCBI chr 3:132,558,138...132,722,459
Ensembl chr 3:132,558,142...132,722,459
JBrowse link
G NPHP3-AS1 NPHP3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Meckel syndrome type 7 ClinVar PMID:17855640 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:132,721,750...132,874,211
Ensembl chr 3:132,721,750...132,874,223
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 IAGP
EXP
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:21419380 PMID:25741868 PMID:28492532 NCBI chr11:124,919,205...124,936,412
Ensembl chr11:124,919,205...124,936,412
JBrowse link
G HEPN1 hepatocellular carcinoma, down-regulated 1 IAGP ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts ClinVar NCBI chr11:124,919,244...124,920,677
Ensembl chr11:124,919,244...124,920,677
JBrowse link
G MLC1 modulator of VRAC current 1 IAGP
EXP
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11254442 PMID:25741868 NCBI chr22:50,059,391...50,085,875
Ensembl chr22:50,059,391...50,085,902
Ensembl chr22:50,059,391...50,085,902
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 IEA
IAGP
OMIM:604004
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1
MouseDO
ClinVar
PMID:25741868 PMID:29389947 NCBI chr11:124,919,205...124,936,412
Ensembl chr11:124,919,205...124,936,412
JBrowse link
G MLC1 modulator of VRAC current 1 IAGP ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 ClinVar
OMIM
PMID:11254442 PMID:11935341 PMID:12189496 PMID:12497630 PMID:12939431 PMID:14572144 PMID:14615938 PMID:15037685 PMID:15367490 PMID:15992519 PMID:16470554 PMID:16652334 PMID:18757878 PMID:19168821 PMID:20301707 PMID:20560255 PMID:21145992 PMID:21160490 PMID:21555057 PMID:21624973 PMID:22006981 PMID:22328087 PMID:22405205 PMID:22416245 PMID:23793458 PMID:23851226 PMID:25497041 PMID:25741868 PMID:25767710 PMID:26349194 PMID:27081509 PMID:27322623 PMID:28492532 PMID:28588848 PMID:30311386 NCBI chr22:50,059,391...50,085,875
Ensembl chr22:50,059,391...50,085,902
Ensembl chr22:50,059,391...50,085,902
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 IAGP ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2a ClinVar
OMIM
PMID:21419380 PMID:25741868 PMID:30311386 NCBI chr11:124,919,205...124,936,412
Ensembl chr11:124,919,205...124,936,412
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 IAGP ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with mental retardation
ClinVar
OMIM
PMID:20517947 PMID:21419380 PMID:25741868 NCBI chr11:124,919,205...124,936,412
Ensembl chr11:124,919,205...124,936,412
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22729224 NCBI chr 1:243,488,233...243,851,079
Ensembl chr 1:243,488,233...243,851,079
JBrowse link
G CCND2 cyclin D2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24705253 PMID:29642246 NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353
Ensembl chr12:4,269,771...4,305,353
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:22729224 NCBI chr 3:179,148,114...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 EXP
IAGP
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 chr19:18,153,163...18,170,532
Ensembl chr19:18,153,163...18,170,532
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 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 OMIM
ClinVar
PMID:16357568 PMID:17675034 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 chr19:18,153,163...18,170,532
Ensembl chr19:18,153,163...18,170,532
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 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 OMIM
ClinVar
PMID:10208883 PMID:15627943 PMID:21159799 PMID:21800092 PMID:22228622 PMID:22500628 PMID:22729223 PMID:22729224 PMID:23745724 PMID:24705253 PMID:25087610 PMID:25416470 PMID:25523067 PMID:25741868 PMID:28086757 PMID:28190287 PMID:28492532 NCBI chr 1:243,488,233...243,851,079
Ensembl chr 1:243,488,233...243,851,079
JBrowse link
G C1orf100 chromosome 1 open reading frame 100 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:244,352,062...244,389,896
Ensembl chr 1:244,352,635...244,389,663
JBrowse link
G CEP170 centrosomal protein 170 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:243,124,428...243,255,796
Ensembl chr 1:243,124,428...243,255,348
JBrowse link
G LINC01347 long intergenic non-protein coding RNA 1347 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:243,056,314...243,101,744
Ensembl chr 1:243,056,307...243,101,744
JBrowse link
G LINC02774 long intergenic non-protein coding RNA 2774 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:243,917,402...244,047,317
Ensembl chr 1:243,917,402...244,047,317
JBrowse link
G LOC110120698 VISTA enhancer hs545 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:243,713,165...243,714,591 JBrowse link
G LOC111828504 Sharpr-MPRA regulatory region 4511 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:244,341,687...244,341,981 JBrowse link
G LOC112577566 Sharpr-MPRA regulatory region 14056 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:243,939,247...243,939,541 JBrowse link
G MIR4677 microRNA 4677 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:243,346,176...243,346,255
Ensembl chr 1:243,346,176...243,346,255
JBrowse link
G PLD5 phospholipase D family member 5 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:242,082,986...242,530,546
Ensembl chr 1:242,082,986...242,524,697
Ensembl chr 1:242,082,986...242,524,697
JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:243,255,418...243,503,683
Ensembl chr 1:243,256,034...243,500,091
JBrowse link
G ZBTB18 zinc finger and BTB domain containing 18 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:244,048,653...244,057,476
Ensembl chr 1:244,048,939...244,057,476
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 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 OMIM
ClinVar
PMID:15627943 PMID:16766701 PMID:17486076 PMID:19641124 PMID:22228622 PMID:22500628 PMID:22729222 PMID:22729223 PMID:22729224 PMID:23624932 PMID:24705253 PMID:25741868 PMID:26520804 PMID:28941273 NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353
Ensembl chr12:4,269,771...4,305,353
JBrowse link
neuroaxonal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BORCS7 BLOC-1 related complex subunit 7 ISS MouseDO NCBI chr10:102,854,259...102,864,961
Ensembl chr10:102,854,259...102,864,961
JBrowse link
G IREB2 iron responsive element binding protein 2 ISO protein:increased expression:brain (mouse) RGD PMID:26506412 RGD:11344088 NCBI chr15:78,437,431...78,501,453
Ensembl chr15:78,437,431...78,501,453
JBrowse link
G NAGA alpha-N-acetylgalactosaminidase IAGP
EXP
Schindler disease, OMIM:609241, DNA:point mutation:exon:E325K
CTD Direct Evidence: marker/mechanism
CTD PMID:2243144, PMID:2243144 RGD:1600557 NCBI chr22:42,058,334...42,070,842
Ensembl chr22:42,058,334...42,070,842
JBrowse link
G PLA2G6 phospholipase A2 group VI ISO
IAGP
DNA:insertion:intron (mouse)
DNA:deletion:cds:p.V691del (human)
DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple
DNA:point mutation:cds
RGD PMID:22442204, PMID:17033970, PMID:18305254, PMID:19138334, PMID:19893029 RGD:6482732, RGD:6482740, RGD:6482739, RGD:6482736, RGD:6482735 NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778
JBrowse link
G TECPR2 tectonin beta-propeller repeat containing 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26555167 NCBI chr14:102,362,941...102,502,477
Ensembl chr14:102,362,941...102,502,477
JBrowse link
G UCHL1 ubiquitin C-terminal hydrolase L1 ISO DNA:deletion RGD PMID:11555633 RGD:1302546 NCBI chr 4:41,256,928...41,268,455
Ensembl chr 4:41,256,413...41,268,455
JBrowse link
G UCHL3 ubiquitin C-terminal hydrolase L3 ISO RGD PMID:11555633 RGD:1302546 NCBI chr13:75,549,490...75,606,020
Ensembl chr13:75,549,480...75,606,020
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 IAGP ClinVar Annotator: match by term: Iron accumulation in brain ClinVar PMID:32581362 NCBI chr 6:44,297,850...44,313,358
Ensembl chr 6:44,298,731...44,313,347
JBrowse link
G CRAT carnitine O-acetyltransferase IAGP ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:25741868 PMID:29395073 NCBI chr 9:129,094,794...129,110,793
Ensembl chr 9:129,094,794...129,111,189
JBrowse link
G PANK2 pantothenate kinase 2 IAGP
EXP
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 1, atypical
ClinVar Annotator: match by term: Iron accumulation in brain
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
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 chr20:3,888,781...3,929,887
Ensembl chr20:3,888,839...3,929,882
JBrowse link
G PLA2G6 phospholipase A2 group VI IAGP 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 chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778
JBrowse link
G REPS1 RALBP1 associated Eps domain containing 1 IAGP ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:29395073 NCBI chr 6:138,903,493...138,988,253
Ensembl chr 6:138,903,493...138,988,261
JBrowse link
G WDR45 WD repeat domain 45 EXP
IAGP
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:49,074,442...49,101,178
Ensembl chr  X:49,074,433...49,101,170
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 IAGP DNA:deletions, missense mutations, nonsense mutation: exon:multiple
ClinVar Annotator: match by term: PLA2G6-associated neurodegeneration
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A
ClinVar
OMIM
PMID:10227637 PMID:12843330 PMID:16783378 PMID:17033970 PMID:18359254 PMID:18414213 PMID:18443314 PMID:18570303 PMID:18799783 PMID:18981035 PMID:19138334 PMID:19893029 PMID:20186954 PMID:20584031 PMID:20619503 PMID:20669327 PMID:20886109 PMID:20938027 PMID:20947703 PMID:21368765 PMID:21700586 PMID:21812034 PMID:22213678 PMID:22934738 PMID:23182313 PMID:24033266 PMID:24088041 PMID:24108619 PMID:24130795 PMID:24745848 PMID:24800972 PMID:24847269 PMID:25164370 PMID:25174650 PMID:25326635 PMID:25326637 PMID:25660576 PMID:25741868 PMID:26196026 PMID:26467025 PMID:26539891 PMID:26633545 PMID:26668131 PMID:27127721 PMID:27196560 PMID:27268037 PMID:27294386 PMID:27378808 PMID:27709683 PMID:27942883 PMID:28295203 PMID:28492532 PMID:28821231 PMID:29124790 PMID:29915382 PMID:30042723 PMID:30065071 PMID:30232368 PMID:30302010 PMID:30340910 PMID:32860008, PMID:22934738 RGD:12910703 NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778
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 IAGP ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 2b
ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION, PLA2G6-RELATED
ClinVar
OMIM
PMID:10227637 PMID:12843330 PMID:16783378 PMID:17033970 PMID:18414213 PMID:18443314 PMID:18570303 PMID:18799783 PMID:18981035 PMID:20301718 PMID:20619503 PMID:20669327 PMID:20886109 PMID:20938027 PMID:24088041 PMID:24130795 PMID:24745848 PMID:24800972 PMID:24847269 PMID:25741868 PMID:26196026 PMID:26633545 PMID:26668131 PMID:27268037 PMID:28492532 PMID:29472584 PMID:29915382 PMID:30619057 PMID:32581362 PMID:32860008 NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778
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 IAGP DNA:insertion:exon:460_461insA(human)
ClinVar Annotator: match by term: Neuroferritinopathy
DNA:mutations:exon:
DNA:duplication:cds:458dupA(human)
ClinVar
OMIM
PMID:11438811 PMID:12746423 PMID:16116125 PMID:17182944 PMID:18413574 PMID:18414213 PMID:18854324 PMID:25741868 PMID:28492532, PMID:17142829, PMID:19117339, PMID:18854324 RGD:5509859, RGD:5509861, RGD:5509860 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,966,879
JBrowse link
G GYS1 glycogen synthase 1 IAGP ClinVar Annotator: match by term: Neuroferritinopathy ClinVar PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr19:48,968,130...48,993,309
Ensembl chr19:48,968,130...48,993,310
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 C19orf12 chromosome 19 open reading frame 12 IAGP ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 4
ClinVar Annotator: match by term: MITOCHONDRIAL PROTEIN-ASSOCIATED NEURODEGENERATION
ClinVar
OMIM
PMID:18414213 PMID:20039086 PMID:21981780 PMID:22508347 PMID:22584950 PMID:23166001 PMID:23269600 PMID:23278385 PMID:23436634 PMID:23494994 PMID:23857908 PMID:24033266 PMID:24209434 PMID:25592411 PMID:25741868 PMID:26187298 PMID:26539891 PMID:27112773 PMID:28347615 PMID:28492532 PMID:28641177 PMID:29295770 PMID:29389947 PMID:30088953 PMID:30392167 PMID:31087512 PMID:32581362 NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,886...29,715,789
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 IAGP ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar NCBI chr  X:48,922,024...48,960,783
Ensembl chr  X:48,922,028...48,958,386
JBrowse link
G WDR45 WD repeat domain 45 IAGP ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar Annotator: match by term: Beta-Propeller protein-associated Neurodegeneration
ClinVar
OMIM
PMID:20562859 PMID:22892189 PMID:23176820 PMID:23435086 PMID:23687123 PMID:24368176 PMID:24621584 PMID:24847269 PMID:24896178 PMID:25263061 PMID:25326635 PMID:25356899 PMID:25592411 PMID:25741868 PMID:25741887 PMID:25744623 PMID:26173968 PMID:26467025 PMID:26609730 PMID:26633542 PMID:26790960 PMID:27030146 PMID:27159028 PMID:27652284 PMID:28191889 PMID:28492532 PMID:28554332 PMID:28711740 PMID:28932395 PMID:29082105 PMID:29171013 PMID:29389947 PMID:29981852 PMID:30311386 PMID:30612247 PMID:30713893 NCBI chr  X:49,074,442...49,101,178
Ensembl chr  X:49,074,433...49,101,170
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 IAGP ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 6 ClinVar
OMIM
PMID:24360804 PMID:25741868 PMID:28489334 PMID:28492532 NCBI chr17:42,562,148...42,566,277
Ensembl chr17:42,561,467...42,566,277
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 IAGP ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 ClinVar
OMIM
PMID:25741868 PMID:29395073 NCBI chr 6:138,903,493...138,988,253
Ensembl chr 6:138,903,493...138,988,261
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 IAGP ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 OMIM
ClinVar
PMID:25741868 PMID:29395073 NCBI chr 9:129,094,794...129,110,793
Ensembl chr 9:129,094,794...129,111,189
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 IAGP ClinVar Annotator: match by term: Normal pressure hydrocephalus OMIM
ClinVar
PMID:31004071 NCBI chr10:104,129,888...104,232,383
Ensembl chr10:104,129,888...104,232,364
Ensembl chr10:104,129,888...104,232,364
JBrowse link
G PMPCA peptidase, mitochondrial processing subunit alpha IAGP ClinVar Annotator: match by term: Normal pressure hydrocephalus ClinVar PMID:10528257 PMID:25808372 NCBI chr 9:136,410,658...136,423,761
Ensembl chr 9:136,410,641...136,423,761
JBrowse link
obstructive hydrocephalus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO9A myosin IXA ISS MouseDO NCBI chr15:71,822,291...72,118,577
Ensembl chr15:71,822,291...72,118,577
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 IAGP
EXP
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:1301187 PMID:1734303 PMID:7898702 PMID:11479594 PMID:12058097 PMID:12510040 PMID:12811783 PMID:14580665 PMID:14638969 PMID:15465096 PMID:15565311 PMID:15659606 PMID:15834858 PMID:15843062 PMID:15911822 PMID:16023068 PMID:16240131 PMID:16272150 PMID:16437574 PMID:16450344 PMID:17903678 PMID:19224615 PMID:20193558 PMID:20603201 PMID:20629144 PMID:21198414 PMID:21459825 PMID:21480873 PMID:22103354 PMID:22127788 PMID:22221393 PMID:22416811 PMID:22682757 PMID:23634310 PMID:23757202 PMID:23968566 PMID:24033266 PMID:24075960 PMID:24209433 PMID:24215330 PMID:24348190 PMID:24712887 PMID:25741868 PMID:25802776 PMID:25915509 PMID:26087139 PMID:26467025 PMID:26795593 PMID:26828213 PMID:27185474 PMID:28094106 PMID:28357202 PMID:28492532 PMID:28708303 PMID:28781879 PMID:28821231 PMID:28845923 PMID:28881514 PMID:29590070 PMID:30311386 PMID:30681573 PMID:32581362 NCBI chr20:3,888,781...3,929,887
Ensembl chr20:3,888,839...3,929,882
JBrowse link
G SNCA synuclein alpha IEP RGD PMID:10934140 RGD:6480098 NCBI chr 4:89,724,099...89,838,324
Ensembl chr 4:89,700,345...89,838,315
Ensembl chr 4:89,700,345...89,838,315
JBrowse link
G SNCB synuclein beta IEP RGD PMID:10934140 RGD:6480098 NCBI chr 5:176,620,082...176,630,556
Ensembl chr 5:176,620,082...176,630,556
JBrowse link
G SNCG synuclein gamma IEP RGD PMID:10934140 RGD:6480098 NCBI chr10:86,955,759...86,963,260
Ensembl chr10:86,958,599...86,963,258
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 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:23143715 PMID:25741868 PMID:31319225 NCBI chr 1:228,149,930...228,159,826
Ensembl chr 1:228,149,930...228,159,826
JBrowse link
G LMNB1 lamin B1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020
JBrowse link
G PLP1 proteolipid protein 1 TAS
IAGP
EXP
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, atypical
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, connatal
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, mild
DNA:missense mutation:cds:p.A246T (human)
ClinVar
CTD
OMIM
PMID:1376966 PMID:1384324 PMID:1605230 PMID:1707231 PMID:1715570 PMID:1720927 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:9633722 PMID:9634530 PMID:11071483 PMID:12297985 PMID:12605435 PMID:12910435 PMID:16380909 PMID:18571143 PMID:18835559 PMID:19396823 PMID:20301361 PMID:24088041 PMID:25326635 PMID:25491635 PMID:25741868 PMID:26125040 PMID:26467025 PMID:26633545 PMID:27535533 PMID:28492532 PMID:29451896, PMID:14572140, PMID:10425042 RGD:1358783, RGD:1358559 NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619
JBrowse link
G RAB9B RAB9B, member RAS oncogene family IAGP ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, connatal
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
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 chr  X:103,776,324...103,832,257
Ensembl chr  X:103,822,327...103,832,257
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 IAGP ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy
ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency
ClinVar Annotator: match by term: ACOX1-related condition
ClinVar
OMIM
PMID:2894756 PMID:8040306 PMID:8279468 PMID:11815777 PMID:17458872 PMID:18536048 PMID:24033266 PMID:25326637 PMID:25741868 PMID:26965209 PMID:28492532 PMID:32169171 NCBI chr17:75,941,507...75,979,199
Ensembl chr17:75,941,507...75,979,177
JBrowse link
G TEN1 TEN1 subunit of CST complex IAGP ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy ClinVar NCBI chr17:75,979,240...76,000,586
Ensembl chr17:75,979,240...76,000,586
JBrowse link
G TEN1-CDK3 TEN1-CDK3 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy ClinVar NCBI chr17:75,979,217...76,005,999
Ensembl chr17:75,979,231...76,005,999
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 IAGP OMIM NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574
JBrowse link
Posthemorrhagic Hydrocephalus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCAN brevican treatment IEP RGD PMID:22186713 RGD:6483013 NCBI chr 1:156,642,117...156,659,528
Ensembl chr 1:156,641,390...156,659,532
JBrowse link
G L1CAM L1 cell adhesion molecule IEP protein:increased expression:cerebrospinal fluid (human) RGD PMID:22186713 RGD:6483013 NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,514...153,886,173
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 IAGP ClinVar Annotator: match by term: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET ClinVar
OMIM
PMID:25741868 PMID:26792856 NCBI chr11:76,860,888...77,026,797
Ensembl chr11:76,860,867...77,026,797
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 IAGP ClinVar Annotator: match by term: Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
ClinVar Annotator: match by term: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION
ClinVar
OMIM
PMID:24033266 PMID:25741868 PMID:26805781 PMID:26805782 PMID:27711071 PMID:29369572 PMID:30245509 PMID:32576985 NCBI chr22:20,017,000...20,067,164
Ensembl chr22:20,017,014...20,067,164
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 IAGP ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 1 OMIM
ClinVar
PMID:8874114 PMID:12872122 PMID:17855640 PMID:18371931 PMID:20007846 PMID:23188109 PMID:23559409 PMID:24033266 PMID:25741868 PMID:26184788 PMID:26673778 PMID:27894351 PMID:28492532 PMID:28991257 PMID:30311386 NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,414
JBrowse link
G NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 1 ClinVar PMID:8874114 PMID:12872122 PMID:17855640 PMID:18371931 PMID:20007846 PMID:23188109 PMID:23559409 PMID:24033266 PMID:25741868 PMID:26184788 PMID:26673778 PMID:27894351 PMID:28492532 PMID:28991257 PMID:30311386 NCBI chr 3:132,558,138...132,722,459
Ensembl chr 3:132,558,142...132,722,459
JBrowse link
G NPHP3-AS1 NPHP3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 1 ClinVar PMID:17855640 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:132,721,750...132,874,211
Ensembl chr 3:132,721,750...132,874,223
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 IAGP ClinVar Annotator: match by term: RETINAL DYSTROPHY WITH LEUKODYSTROPHY ClinVar
OMIM
PMID:23105016 NCBI chr10:27,182,838...27,243,542
Ensembl chr10:27,195,214...27,242,130
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 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:49,235,470...49,250,526
Ensembl chr  X:49,235,470...49,250,520
JBrowse link
G WASHC5 WASH complex subunit 5 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:125,024,260...125,091,796
Ensembl chr 8:125,024,260...125,091,819
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 IAGP ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 ClinVar PMID:19377476 PMID:21826058 PMID:24916641 NCBI chr  X:49,235,470...49,250,526
Ensembl chr  X:49,235,470...49,250,520
JBrowse link
G DPYSL5 dihydropyrimidinase like 5 IAGP ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 ClinVar PMID:31474318 NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351
JBrowse link
G WASHC5 WASH complex subunit 5 IAGP ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 OMIM
ClinVar
PMID:7604842 PMID:17160902 PMID:23455931 PMID:24065355 PMID:25741868 PMID:27957547 PMID:28492532 NCBI chr 8:125,024,260...125,091,796
Ensembl chr 8:125,024,260...125,091,819
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 IAGP ClinVar Annotator: match by term: Ritscher-schinzel syndrome 2 ClinVar
OMIM
PMID:19377476 PMID:21826058 PMID:24916641 PMID:25741868 NCBI chr  X:49,235,470...49,250,526
Ensembl chr  X:49,235,470...49,250,520
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 IAGP
EXP
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 Annotator: match by term: SCHINDLER DISEASE, TYPE II
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Kanzaki disease
ClinVar Annotator: match by term: NAGA DEFICIENCY, TYPE I
ClinVar
CTD
OMIM
PMID:1131374 PMID:2243144 PMID:2372288 PMID:2564952 PMID:7707696 PMID:8040340 PMID:8071745 PMID:8782044 PMID:11251574 PMID:11313741 PMID:14685826 PMID:15619430 PMID:17171432 PMID:18414213 PMID:19683538 PMID:24033266 PMID:25741868 PMID:27138754 PMID:28492532 PMID:29431110 PMID:30487145 PMID:32860008 NCBI chr22:42,058,334...42,070,842
Ensembl chr22:42,058,334...42,070,842
JBrowse link
G WBP2NL WBP2 N-terminal like IAGP 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 chr22:41,995,103...42,059,402
Ensembl chr22:41,998,725...42,058,456
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 IAGP
EXP
ClinVar Annotator: match by term: Pettigrew syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:2018058 PMID:5054319 PMID:10398241 PMID:12599187 PMID:17186471 PMID:17617514 PMID:18414213 PMID:23756445 PMID:25741868 NCBI chr  X:15,825,806...15,854,966
Ensembl chr  X:15,825,806...15,854,931
JBrowse link
G CUL4B cullin 4B IAGP ClinVar Annotator: match by term: Pettigrew syndrome ClinVar PMID:25741868 NCBI chr  X:120,523,858...120,575,532
Ensembl chr  X:120,524,612...120,575,794
Ensembl chr  X:120,524,612...120,575,794
Ensembl chr  X:120,524,612...120,575,794
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 IAGP ClinVar Annotator: match by term: Ventriculomegaly with cystic kidney disease ClinVar
OMIM
PMID:25557780 PMID:25741868 NCBI chr 9:123,354,065...123,380,326
Ensembl chr 9:123,356,170...123,380,324
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 IAGP
ISO
EXP
DNA:snps:cds:multiple (human)
ClinVar Annotator: match by term: Aqueductal stenosis, X-linked
ClinVar Annotator: match by term: X-linked hydrocephalus
ClinVar Annotator: match by term: Hydrocephalus due to aqueductal stenosis
CTD Direct Evidence: marker/mechanism
C57BL/6J background
ClinVar
CTD
OMIM
PMID:7881431 PMID:7920659 PMID:7920660 PMID:9300653 PMID:10469653 PMID:11772994 PMID:18414213 PMID:25741868 PMID:28492532 PMID:31680349, PMID:7920659, PMID:30738385, PMID:19565280 RGD:6483012, RGD:14695001, RGD:6483078 NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,514...153,886,173
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 IAGP 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:153,861,514...153,886,173
Ensembl chr  X:153,861,514...153,886,173
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 IAGP ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations ClinVar NCBI chr14:34,752,731...34,875,360
Ensembl chr14:34,752,731...34,875,647
JBrowse link
G FANCB FA complementation group B IAGP
EXP
ClinVar Annotator: match by term: VACTERL-H
ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr  X:14,690,863...14,873,255
Ensembl chr  X:14,835,961...14,873,069
JBrowse link
G FANCL FA complementation group L IAGP ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked ClinVar PMID:25754594 NCBI chr 2:58,159,243...58,241,681
Ensembl chr 2:58,159,243...58,241,372
JBrowse link
G PTEN phosphatase and tensin homolog EXP
IAGP
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 chr10:87,863,625...87,971,930
Ensembl chr10:87,863,625...87,971,930
JBrowse link
G SALL1 spalt like transcription factor 1 IAGP ClinVar Annotator: match by term: VACTERL-H ClinVar PMID:25741868 NCBI chr16:51,135,982...51,151,270
Ensembl chr16:51,135,975...51,151,367
JBrowse link
G ZIC3 Zic family member 3 IAGP ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked ClinVar
OMIM
PMID:2629409 PMID:14681828 PMID:17764085 PMID:23427188 PMID:24033266 PMID:24123890 PMID:25741868 PMID:26294094 PMID:28492532 NCBI chr  X:137,566,127...137,577,691
Ensembl chr  X:137,566,127...137,577,691
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18864
    disease of anatomical entity 17350
      nervous system disease 13440
        central nervous system disease 11501
          brain disease 10684
            cerebral degeneration 299
              Alpers-Huttenlocher syndrome + 6
              cerebral lipidosis 0
              hydrocephalus + 118
              leukodystrophy + 135
              neuroaxonal dystrophy + 40
              senile degeneration of brain 0
paths to the root