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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 ISO ClinVar Annotator: match by term: Brain degeneration ClinVar PMID:30311386 NCBI chr 4:94,583,905...94,606,689
Ensembl chr 4:94,584,196...94,609,745
JBrowse link
G GLB1 galactosidase beta 1 ISO ClinVar Annotator: match by term: Brain degeneration ClinVar PMID:10338095 PMID:10737981 PMID:15714521 PMID:16941474 PMID:17309651 PMID:17664528 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr13:18,878,407...18,978,999
Ensembl chr13:18,878,612...18,953,146
JBrowse link
G PTPN23 protein tyrosine phosphatase non-receptor type 23 ISO ClinVar Annotator: match by term: Brain degeneration ClinVar PMID:30311386 NCBI chr13:30,190,659...30,252,980
Ensembl chr13:30,190,657...30,253,115
JBrowse link
adrenoleukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 susceptibility ISO OMIM
RGD
PMID:8048932 RGD:1598655 NCBI chr  X:124,485,076...124,501,742
Ensembl chr  X:124,485,235...124,503,195
JBrowse link
G ACSBG1 acyl-CoA synthetase bubblegum family member 1 ISO RGD PMID:15800013 RGD:11065111 NCBI chr 7:47,705,091...47,760,797
Ensembl chr 7:47,705,120...47,762,541
JBrowse link
G ARHGAP4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:124,641,222...124,655,312
Ensembl chr  X:124,641,224...124,655,277
JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:124,952,532...124,960,344
Ensembl chr  X:124,952,500...124,960,344
JBrowse link
G AVPR2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:124,638,433...124,640,969
Ensembl chr  X:124,638,523...124,644,630
JBrowse link
G BCAP31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:124,456,999...124,484,923
Ensembl chr  X:124,457,001...124,484,743
JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:125,218,928...125,228,881
Ensembl chr  X:125,218,923...125,229,529
JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:124,931,410...124,937,569
Ensembl chr  X:124,931,408...124,939,965
JBrowse link
G EMD emerin ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:124,883,047...124,885,429 JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:125,265,330...125,350,853
Ensembl chr  X:125,265,337...125,350,853
JBrowse link
G FAM3A FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:125,015,985...125,025,119
Ensembl chr  X:125,014,714...125,025,128
JBrowse link
G FAM50A family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:124,967,821...124,973,487
Ensembl chr  X:124,967,593...124,978,290
JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,142...124,917,171
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,025,257...125,041,033
JBrowse link
G GAB3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:125,158,148...125,209,080
Ensembl chr  X:125,158,148...125,209,036
JBrowse link
G GDI1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:124,960,835...124,966,833
Ensembl chr  X:124,960,834...124,967,289
JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:124,673,125...124,694,846 JBrowse link
G HMOX1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:124,528,643...124,537,570
Ensembl chr  X:124,528,644...124,538,298
JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,848...32,482,752
JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:125,035,575...125,056,445
Ensembl chr  X:125,036,508...125,056,453
JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:124,717,604...124,724,855
Ensembl chr  X:124,717,612...124,724,860
JBrowse link
G L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:124,595,649...124,618,292
Ensembl chr  X:124,595,651...124,618,307
JBrowse link
G LAGE3 L antigen family member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:125,001,673...125,003,206 JBrowse link
G LOC494564 medium-wave-sensitive opsin ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:124,816,014...124,828,225 JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:124,735,523...124,789,063
Ensembl chr  X:124,735,656...124,789,110
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,594...30,086,982
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G MPP1 membrane palmitoylated protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:125,230,412...125,252,384
Ensembl chr  X:125,229,449...125,300,101
JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:124,658,429...124,662,744
Ensembl chr  X:124,657,671...124,667,052
JBrowse link
G PDZD4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:124,543,845...124,567,477
Ensembl chr  X:124,544,944...124,568,023
JBrowse link
G PEX13 peroxisomal biogenesis factor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10441568 NCBI chr 3:80,757,470...80,791,107
Ensembl chr 3:80,753,908...80,791,056
JBrowse link
G PEX26 peroxisomal biogenesis factor 26 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12851857 NCBI chr 5:70,133,024...70,142,515
Ensembl chr 5:70,133,022...70,180,433
JBrowse link
G PLXNA3 plexin A3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:124,982,307...124,997,098
Ensembl chr  X:124,984,190...124,997,067
JBrowse link
G PLXNB3 plexin B3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:124,507,953...124,522,780
Ensembl chr  X:124,507,999...124,522,772
JBrowse link
G RENBP renin binding protein ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:124,662,957...124,670,522
Ensembl chr  X:124,657,675...124,672,235
JBrowse link
G RPL10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:124,927,249...124,929,791
Ensembl chr  X:124,926,482...124,929,797
JBrowse link
G SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:125,010,128...125,013,992
Ensembl chr  X:125,007,122...125,013,980
JBrowse link
G SLC6A8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:124,435,282...124,452,182
Ensembl chr  X:124,294,856...124,453,249
JBrowse link
G SMIM9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:125,254,737...125,262,113
Ensembl chr  X:125,255,152...125,327,597
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,651,280...7,691,723
JBrowse link
G SRPK3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:124,524,102...124,528,607
Ensembl chr  X:124,524,083...124,528,945
JBrowse link
G SSR4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:124,537,545...124,541,635
Ensembl chr  X:124,537,539...124,541,638
JBrowse link
G TAZ tafazzin ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:124,940,036...124,946,275
Ensembl chr  X:124,940,031...124,947,241
JBrowse link
G TEX28 testis expressed 28 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:124,828,222...124,840,093
Ensembl chr  X:124,828,225...124,833,598
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr  X:42,103,251...42,106,289
Ensembl chr  X:42,102,172...42,106,297
JBrowse link
G TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:124,840,072...124,867,313
Ensembl chr  X:124,840,521...124,866,663
JBrowse link
G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:124,695,050...124,699,349 JBrowse link
G UBL4A ubiquitin like 4A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:125,007,121...125,009,657
Ensembl chr  X:125,007,122...125,013,980
JBrowse link
adult-onset autosomal dominant demyelinating leukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNB1 lamin B1 ISO OMIM NCBI chr 2:129,807,228...129,862,211
Ensembl chr 2:129,807,318...129,871,725
JBrowse link
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSF1R colony stimulating factor 1 receptor ISO OMIM NCBI chr 2:151,102,138...151,130,311
Ensembl chr 2:151,102,138...151,147,634
JBrowse link
Alexander disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GFAP glial fibrillary acidic protein ISO OMIM NCBI chr12:18,456,268...18,466,594
Ensembl chr12:18,456,263...18,468,898
JBrowse link
Alpers-Huttenlocher syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP4 aquaporin 4 ISO RGD PMID:20680636 RGD:5148026 NCBI chr 6:111,407,632...111,422,169
Ensembl chr 6:111,400,794...111,422,042
JBrowse link
G EDAR ectodysplasin A receptor ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 PMID:28492532 NCBI chr 3:47,396,303...47,466,234
Ensembl chr 3:47,396,327...47,465,791
JBrowse link
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type)
ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:21880868 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 NCBI chr 7:54,811,024...54,889,992
Ensembl chr 7:54,744,742...54,890,997
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit susceptibility ISO DNA:missense mutation:cds:p.P1073L (3218C>T) (human) OMIM
RGD
PMID:20142534 RGD:15039298 NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,153...54,906,856
JBrowse link
G RLBP1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar NCBI chr 7:54,783,965...54,800,008
Ensembl chr 7:54,771,978...54,889,014
JBrowse link
CADASIL term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HTRA1 HtrA serine peptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:132,043,044...132,103,590
Ensembl chr14:132,043,006...132,103,595
JBrowse link
G NOTCH3 notch receptor 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
CTD
ClinVar
PMID:15229130 PMID:25741868 PMID:26467025 NCBI chr 2:62,364,507...62,402,348
Ensembl chr 2:62,364,501...62,402,344
JBrowse link
CADASIL 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOTCH3 notch receptor 3 ISO OMIM NCBI chr 2:62,364,507...62,402,348
Ensembl chr 2:62,364,501...62,402,344
JBrowse link
CADASIL 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HTRA1 HtrA serine peptidase 1 ISO OMIM NCBI chr14:132,043,044...132,103,590
Ensembl chr14:132,043,006...132,103,595
JBrowse link
Canavan disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASPA aspartoacylase susceptibility ISO OMIM
RGD
PMID:8252036 RGD:1599291 NCBI chr12:49,612,845...49,630,303
Ensembl chr12:49,610,519...49,641,905
JBrowse link
G CSPG4 chondroitin sulfate proteoglycan 4 ISO RGD PMID:19739253 RGD:5686858 NCBI chr 7:57,949,182...57,988,602
Ensembl chr 7:57,949,455...57,988,337
JBrowse link
G CTNS cystinosin, lysosomal cystine transporter ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr12:49,730,741...49,754,362
Ensembl chr12:49,730,955...49,753,208
JBrowse link
G EMC6 ER membrane protein complex subunit 6 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr12:49,759,153...49,760,069 JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO protein:decreased expression:cerebellum, brain stem RGD PMID:15016427 RGD:6484588 NCBI chr14:87,968,850...88,005,375
Ensembl chr14:87,968,850...88,005,550
JBrowse link
G HASPIN histone H3 associated protein kinase ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr12:49,820,435...49,823,515 JBrowse link
G ITGAE integrin subunit alpha E ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr12:49,810,050...49,878,142
Ensembl chr12:49,810,051...49,902,983
JBrowse link
G P2RX5 purinergic receptor P2X 5 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr12:49,780,241...49,796,287 JBrowse link
G SHPK sedoheptulokinase ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr12:49,713,224...49,732,319 JBrowse link
G SPATA22 spermatogenesis associated 22 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system
ClinVar Annotator: match by term: Canavan Disease, Familial Form
ClinVar PMID:7599639 PMID:7668285 PMID:8023850 PMID:8037206 PMID:8088831 PMID:8252036 PMID:8659549 PMID:9452117 PMID:9887384 PMID:10407784 PMID:10564886 PMID:10701101 PMID:10704428 PMID:10724099 PMID:10909858 PMID:11238686 PMID:12205125 PMID:12638939 PMID:14567959 PMID:15243987 PMID:16138249 PMID:16217711 PMID:16437572 PMID:16802711 PMID:16854607 PMID:17027983 PMID:17194761 PMID:17391648 PMID:17999961 PMID:18070137 PMID:18978679 PMID:19685155 PMID:20129749 PMID:20301412 PMID:21228398 PMID:21520333 PMID:21907889 PMID:22019069 PMID:22219087 PMID:22611636 PMID:22750302 PMID:22850825 PMID:22878930 PMID:23233226 PMID:23253610 PMID:23971085 PMID:24033266 PMID:25003821 PMID:25107638 PMID:25741868 PMID:26586007 PMID:26992473 PMID:27457812 PMID:27531131 PMID:27927234 PMID:28101991 PMID:28492532 NCBI chr12:49,573,050...49,609,232 JBrowse link
G TAX1BP3 Tax1 binding protein 3 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr12:49,754,162...49,759,026
Ensembl chr12:49,754,164...49,760,147
JBrowse link
G TRPV1 transient receptor potential cation channel subfamily V member 1 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr12:49,676,536...49,709,634
Ensembl chr12:49,677,291...49,701,325
JBrowse link
G TRPV3 transient receptor potential cation channel subfamily V member 3 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr12:49,638,852...49,671,671
Ensembl chr12:49,635,927...49,671,613
JBrowse link
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HTRA1 HtrA serine peptidase 1 ISO OMIM NCBI chr14:132,043,044...132,103,590
Ensembl chr14:132,043,006...132,103,595
JBrowse link
cerebral folate receptor alpha deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANAPC15 anaphase promoting complex subunit 15 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 9:6,685,934...6,689,913
Ensembl chr 9:6,685,936...6,689,256
JBrowse link
G DHCR7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 2:2,377,352...2,391,846
Ensembl chr 2:2,377,416...2,391,448
JBrowse link
G FOLR1 folate receptor alpha ISO OMIM NCBI chr 9:6,753,513...6,760,433
Ensembl chr 9:6,746,007...6,760,433
JBrowse link
G IL18BP interleukin 18 binding protein ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 9:6,586,602...6,596,423
Ensembl chr 9:6,488,808...6,591,333
JBrowse link
G LAMTOR1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 9:6,674,045...6,680,067
Ensembl chr 9:6,672,475...6,680,053
JBrowse link
G NADSYN1 NAD synthetase 1 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 2:2,334,793...2,372,356
Ensembl chr 2:2,334,793...2,372,355
JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 9:6,591,943...6,662,966
Ensembl chr 9:6,591,943...6,662,842
JBrowse link
G RNF121 ring finger protein 121 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 9:6,488,756...6,587,426
Ensembl chr 9:6,488,804...6,596,427
JBrowse link
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HDAC6 histone deacetylase 6 ISO OMIM NCBI chr  X:42,917,911...42,941,894
Ensembl chr  X:42,917,960...42,941,890
JBrowse link
Clark-Baraitser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRIO trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Clark-Baraitser syndrome ClinVar PMID:25741868 NCBI chr16:3,690,831...3,921,554
Ensembl chr16:3,563,660...3,921,556
JBrowse link
G TRIP12 thyroid hormone receptor interactor 12 ISO OMIM NCBI chr15:130,784,567...130,940,497
Ensembl chr15:130,787,581...130,939,575
JBrowse link
Cole-Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P4HB prolyl 4-hydroxylase subunit beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cole-Carpenter syndrome
CTD
ClinVar
PMID:25741868 NCBI chr12:1,121,816...1,131,291
Ensembl chr12:1,121,793...1,131,291
JBrowse link
G SEC24D SEC24 homolog D, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:104,560,723...105,005,400
Ensembl chr 8:104,808,940...105,005,400
JBrowse link
Cole-Carpenter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P4HB prolyl 4-hydroxylase subunit beta ISO OMIM NCBI chr12:1,121,816...1,131,291
Ensembl chr12:1,121,793...1,131,291
JBrowse link
Cole-Carpenter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SEC24D SEC24 homolog D, COPII coat complex component ISO OMIM NCBI chr 8:104,560,723...105,005,400
Ensembl chr 8:104,808,940...105,005,400
JBrowse link
communicating hydrocephalus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NFIA nuclear factor I A ISO ClinVar Annotator: match by term: Communicating hydrocephalus ClinVar PMID:30311386 NCBI chr 6:150,834,002...151,229,773
Ensembl chr 6:150,835,464...151,426,550
JBrowse link
G TMEM67 transmembrane protein 67 ISO RGD PMID:30705305 RGD:14995942 NCBI chr 4:42,878,249...42,931,106
Ensembl chr 4:42,878,254...42,931,121
JBrowse link
Congenital Communicating Hydrocephalus 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRIM71 tripartite motif containing 71 ISO OMIM NCBI chr13:18,762,043...18,835,788
Ensembl chr13:18,761,445...18,830,563
JBrowse link
Congenital Hydrocephalus 2, with or without Brain or Eye Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACADM acyl-CoA dehydrogenase medium chain ISO ClinVar Annotator: match by term: Hydrocephalus, congenital, 2, with or without brain or eye anomalies ClinVar PMID:11673361 PMID:19780764 PMID:20434380 PMID:23028790 PMID:24966162 PMID:27308838 PMID:28492532 NCBI chr 6:137,541,481...137,575,544
Ensembl chr 6:137,541,380...137,595,108
JBrowse link
G MPDZ multiple PDZ domain crumbs cell polarity complex component ISO OMIM NCBI chr 1:209,181,441...209,351,797
Ensembl chr 1:209,181,465...209,349,295
JBrowse link
Congenital Hydrocephalus 3, with Brain Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WDR81 WD repeat domain 81 ISO OMIM NCBI chr12:47,921,818...47,933,782
Ensembl chr12:47,922,002...47,933,780
JBrowse link
Dandy Walker Cyst term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Dandy-Walker cyst ClinVar PMID:4386970 PMID:5771505 PMID:16372351 PMID:16523510 PMID:16804887 PMID:16825433 PMID:17551924 PMID:18039235 PMID:18413255 PMID:19206169 PMID:23875798 PMID:24033266 PMID:31474318 NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,959...9,132,553
JBrowse link
Dandy-Walker syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARMC9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:28492532 PMID:28625504 PMID:31474318 NCBI chr15:131,928,642...132,101,348
Ensembl chr15:131,928,700...132,101,344
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Dandy-Walker malformation ClinVar PMID:4386970 PMID:5771505 PMID:16372351 PMID:16523510 PMID:16804887 PMID:16825433 PMID:17551924 PMID:18039235 PMID:18413255 PMID:19206169 PMID:23875798 PMID:24033266 PMID:31474318 NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,959...9,132,553
JBrowse link
G CHN1 chimerin 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr15:80,731,243...80,927,746
Ensembl chr15:80,730,692...80,927,746
JBrowse link
G DPH1 diphthamide biosynthesis 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25558065 NCBI chr12:48,146,364...48,157,436
Ensembl chr12:48,146,417...48,161,774
JBrowse link
G DPYSL5 dihydropyrimidinase like 5 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chr 3:112,155,538...112,252,963
Ensembl chr 3:112,155,541...112,252,968
JBrowse link
G FOXC1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19668217 NCBI chr 7:837,088...840,593
Ensembl chr 7:837,171...838,805
JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chr 9:53,008,944...53,027,307
Ensembl chr 9:53,010,375...53,026,408
JBrowse link
G KIAA1109 KIAA1109 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25558065 NCBI chr 8:101,737,084...101,937,212
Ensembl chr 8:101,737,086...101,937,156
JBrowse link
G KIF1A kinesin family member 1A ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr15:139,610,624...139,694,841
Ensembl chr15:139,610,626...139,694,826
JBrowse link
G KMT2D lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr 5:15,049,827...15,091,622 JBrowse link
G L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:7562969 PMID:8062435 PMID:11772994 PMID:28492532 PMID:30311386 NCBI chr  X:124,595,649...124,618,292
Ensembl chr  X:124,595,651...124,618,307
JBrowse link
G MID1 midline 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr  X:7,235,386...7,906,049
Ensembl chr  X:7,237,942...7,620,011
JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:7678051 PMID:9211853 PMID:11341328 PMID:15284236 PMID:17499702 PMID:17656670 PMID:19047372 PMID:20124286 PMID:21194675 PMID:21437241 PMID:22209699 PMID:23255827 PMID:23731537 PMID:23731542 PMID:24065723 PMID:24796542 PMID:25158255 PMID:25391964 PMID:25454926 PMID:25803852 PMID:26279204 PMID:26279649 PMID:26455322 PMID:26971580 PMID:28334876 PMID:29226947 PMID:31474318 NCBI chr 2:151,155,753...151,192,818
Ensembl chr 2:151,155,754...151,192,647
JBrowse link
G PIBF1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:30858804 PMID:31474318 NCBI chr11:45,076,046...45,362,708
Ensembl chr11:45,076,061...45,362,891
JBrowse link
G PPP1CB protein phosphatase 1 catalytic subunit beta ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 PMID:25741869 PMID:27264673 PMID:27681385 PMID:27868344 PMID:28211982 PMID:28492532 PMID:31474318 NCBI chr 3:110,437,681...110,474,896
Ensembl chr 3:110,437,687...110,474,891
JBrowse link
G PUS3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chr 9:53,018,878...53,028,605
Ensembl chr 9:53,018,875...53,028,555
JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chr13:29,884,708...29,996,285
Ensembl chr13:29,884,712...29,996,360
JBrowse link
G TMEM47 transmembrane protein 47 ISO ClinVar Annotator: match by term: Dandy-Walker cyst ClinVar NCBI chr  X:30,584,044...30,615,233
Ensembl chr  X:30,584,044...30,615,232
JBrowse link
G TUBA1A tubulin alpha 1a ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:17584854 PMID:18669490 PMID:18728072 PMID:18954413 PMID:20466733 PMID:22264709 PMID:23361065 PMID:23528852 PMID:24860126 PMID:25008804 PMID:25741868 PMID:26795593 PMID:30744660 PMID:31474318 NCBI chr 5:15,186,059...15,190,211
Ensembl chr 5:15,149,099...15,269,267
JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr 8:4,362,678...4,405,185
Ensembl chr 8:4,362,678...4,385,272
JBrowse link
G ZIC1 Zic family member 1 ISO RGD PMID:15338008 RGD:1599905 NCBI chr13:87,740,769...87,750,258
Ensembl chr13:87,745,751...87,749,403
JBrowse link
hydrocephalus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:30311386 NCBI chr 4:95,154,230...95,197,308
Ensembl chr 4:95,154,358...95,197,305
JBrowse link
G AQP1 aquaporin 1 (Colton blood group) disease_progression ISO RGD PMID:21135737 RGD:5148011 NCBI chr18:42,063,482...42,076,741 JBrowse link
G AQP4 aquaporin 4 disease_progression ISO RGD PMID:21135737 RGD:5148011 NCBI chr 6:111,407,632...111,422,169
Ensembl chr 6:111,400,794...111,422,042
JBrowse link
G ARID1B AT-rich interaction domain 1B ISO RGD PMID:28867767 RGD:13439722 NCBI chr 1:9,791,627...10,227,381
Ensembl chr 1:9,791,629...10,227,947
JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:22842232 PMID:25741868 PMID:26297560 PMID:26410222 PMID:28492532 NCBI chr 6:49,905,851...49,927,437 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 chr15:140,171,134...140,184,126
Ensembl chr15:140,171,143...140,184,124
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:16439621 PMID:18039235 PMID:18413255 PMID:19376813 PMID:24033266 PMID:25463315 PMID:25741868 PMID:26619011 PMID:28492532 PMID:30311386 NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,959...9,132,553
JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:7837387 PMID:8644702 PMID:9663595 PMID:12393792 PMID:12566964 PMID:15024741 PMID:15383404 PMID:15876480 PMID:18763032 PMID:18783588 PMID:20373018 PMID:21232165 PMID:21989927 PMID:23199084 PMID:23683081 PMID:24033266 PMID:24312913 PMID:24504028 PMID:25330149 PMID:25682074 PMID:25741868 PMID:25948282 PMID:26083025 PMID:26219728 PMID:26295337 PMID:26467025 PMID:26852130 PMID:27741520 PMID:28324225 PMID:28492532 PMID:29335924 PMID:30311386 PMID:30606148 NCBI chr12:19,788,087...19,854,515
Ensembl chr12:19,786,020...19,855,570
JBrowse link
G CCDC88C coiled-coil domain containing 88C ISO OMIM NCBI chr 7:112,917,436...113,030,442
Ensembl chr 7:112,917,448...113,045,686
JBrowse link
G CCND2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chr 5:66,092,483...66,114,575
Ensembl chr 5:66,087,379...66,114,571
JBrowse link
G CDK8 cyclin dependent kinase 8 ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:25741868 NCBI chr11:4,054,442...4,161,501
Ensembl chr11:4,054,209...4,181,093
JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Hydrocephaly ClinVar PMID:25407461 PMID:25741868 PMID:26092869 PMID:28125082 PMID:28492532 PMID:30311386 NCBI chr16:22,381,001...22,501,052
Ensembl chr16:22,381,327...22,500,998
JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22522421 NCBI chr 9:85,419,401...85,711,146
Ensembl chr 9:85,415,550...85,710,752
JBrowse link
G DOCK6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Hydrocephalus ClinVar NCBI chr 2:69,925,853...69,972,326
Ensembl chr 2:69,925,852...69,972,316
JBrowse link
G FOXC1 forkhead box C1 ISO RGD PMID:9635428 RGD:8662364 NCBI chr 7:837,088...840,593
Ensembl chr 7:837,171...838,805
JBrowse link
G GDNF glial cell derived neurotrophic factor ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:30311386 NCBI chr16:22,936,602...22,965,929
Ensembl chr16:22,936,601...22,965,886
JBrowse link
G GLDC glycine decarboxylase ISO RGD PMID:25736695 RGD:12904662 NCBI chr 1:215,608,854...215,715,062
Ensembl chr 1:215,608,849...215,715,061
JBrowse link
G HMGB1 high mobility group box 1 ISO RGD PMID:22116431 RGD:10402405 NCBI chr11:7,195,556...7,321,071 JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:15964663 RGD:1624238 NCBI chr15:101,360,355...101,373,498
Ensembl chr15:101,360,094...101,373,527
JBrowse link
G HYDIN HYDIN axonemal central pair apparatus protein ISO CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation:exon (mouse)
CTD
RGD
PMID:12719380 PMID:19029900 RGD:634487 NCBI chr 6:13,895,276...14,307,790 JBrowse link
G IFT122 intraflagellar transport 122 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20493458 NCBI chr13:68,828,710...68,902,062
Ensembl chr13:68,828,705...68,902,062
JBrowse link
G ITGB1 integrin subunit beta 1 ISO RGD PMID:19726708 RGD:2325325 NCBI chr10:56,078,393...56,130,608
Ensembl chr10:56,078,398...56,173,795
JBrowse link
G KCNT1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Hydrocephalus ClinVar PMID:25741868 PMID:28492532
G L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: X-linked hydrocephalus ClinVar PMID:7881431 PMID:9300653 PMID:25741868 PMID:31680349 NCBI chr  X:124,595,649...124,618,292
Ensembl chr  X:124,595,651...124,618,307
JBrowse link
G LLGL1 LLGL scribble cell polarity complex component 1 ISO RGD PMID:15037549 RGD:1300301 NCBI chr12:60,487,337...60,500,423
Ensembl chr12:60,487,341...60,500,451
JBrowse link
G LOC110258087 endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase-like ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:25741868 PMID:28492532 PMID:30311386
G MPDZ multiple PDZ domain crumbs cell polarity complex component ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:24033266 PMID:28492532 NCBI chr 1:209,181,441...209,351,797
Ensembl chr 1:209,181,465...209,349,295
JBrowse link
G NIN ninein ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:30311386 NCBI chr 1:180,477,269...180,621,980
Ensembl chr 1:180,479,588...180,621,895
JBrowse link
G NTF3 neurotrophin 3 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:11580868 RGD:1358755 NCBI chr 5:65,052,608...65,122,645
Ensembl chr 5:65,052,517...65,123,788
JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Hydrocephaly ClinVar PMID:25741868 NCBI chr 6:71,987,938...72,019,712
Ensembl chr 6:71,988,459...72,021,804
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 chr 5:3,302,755...3,321,091
Ensembl chr 5:3,300,708...3,366,361
JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:28492532 PMID:29983323 NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,325...26,703,225
JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:31474318 NCBI chr13:29,884,708...29,996,285
Ensembl chr13:29,884,712...29,996,360
JBrowse link
G SIN3A SIN3 transcription regulator family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27399968 NCBI chr 7:58,171,821...58,246,126
Ensembl chr 7:58,176,166...58,245,762
JBrowse link
G SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:29983323 NCBI chr13:30,409,979...30,576,270
Ensembl chr13:30,409,982...30,601,441
JBrowse link
G TMEM67 transmembrane protein 67 ISO RGD PMID:30705305 RGD:14995942 NCBI chr 4:42,878,249...42,931,106
Ensembl chr 4:42,878,254...42,931,121
JBrowse link
G TRIM71 tripartite motif containing 71 ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:29983323 NCBI chr13:18,762,043...18,835,788
Ensembl chr13:18,761,445...18,830,563
JBrowse link
G TXN thioredoxin ISO CTD Direct Evidence: marker/mechanism CTD PMID:31310794 NCBI chr 1:251,264,180...251,278,000
Ensembl chr 1:251,263,175...251,277,988
JBrowse link
G WDR37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:31327508 PMID:31327510 PMID:31474318 NCBI chr10:68,416,058...68,529,662
Ensembl chr10:68,416,090...68,535,143
JBrowse link
hydrolethalus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HYLS1 HYLS1 centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Hydrolethalus syndrome ClinVar PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 PMID:28492532 NCBI chr 9:53,008,944...53,027,307
Ensembl chr 9:53,010,375...53,026,408
JBrowse link
G KIF7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21552264 NCBI chr 7:55,200,591...55,220,237
Ensembl chr 7:55,200,593...55,220,497
JBrowse link
G PUS3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Hydrolethalus syndrome ClinVar PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 PMID:28492532 NCBI chr 9:53,018,878...53,028,605
Ensembl chr 9:53,018,875...53,028,555
JBrowse link
hydrolethalus syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HYLS1 HYLS1 centriolar and ciliogenesis associated ISO OMIM NCBI chr 9:53,008,944...53,027,307
Ensembl chr 9:53,010,375...53,026,408
JBrowse link
G KIF7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:55,200,591...55,220,237
Ensembl chr 7:55,200,593...55,220,497
JBrowse link
G PUS3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Hydrolethalus syndrome 1 ClinVar PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 PMID:28492532 NCBI chr 9:53,018,878...53,028,605
Ensembl chr 9:53,018,875...53,028,555
JBrowse link
hydrolethalus syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF7 kinesin family member 7 ISO OMIM NCBI chr 7:55,200,591...55,220,237
Ensembl chr 7:55,200,593...55,220,497
JBrowse link
hypomyelinating leukodystrophy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PYCR2 pyrroline-5-carboxylate reductase 2 ISO OMIM NCBI chr10:13,841,755...13,845,900 JBrowse link
hypomyelinating leukodystrophy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLR1C RNA polymerase I and III subunit C ISO OMIM NCBI chr 7:38,511,521...38,531,938
Ensembl chr 7:38,507,073...38,537,943
JBrowse link
hypomyelinating leukodystrophy 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VPS11 VPS11 core subunit of CORVET and HOPS complexes ISO OMIM NCBI chr 9:46,285,718...46,297,465
Ensembl chr 9:46,285,729...46,297,465
JBrowse link
hypomyelinating leukodystrophy 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HIKESHI heat shock protein nuclear import factor hikeshi ISO OMIM NCBI chr 9:20,181,187...20,224,116
Ensembl chr 9:20,181,235...20,280,211
JBrowse link
hypomyelinating leukodystrophy 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UFM1 ubiquitin fold modifier 1 ISO OMIM NCBI chr11:13,516,814...13,779,446
Ensembl chr11:13,765,497...14,057,370
JBrowse link
Hypomyelinating Leukodystrophy 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 ISO OMIM NCBI chr10:9,579,301...9,648,416
Ensembl chr10:9,579,301...9,648,414
JBrowse link
Hypomyelinating Leukodystrophy 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM106B transmembrane protein 106B ISO OMIM NCBI chr 9:81,837,654...81,864,215
Ensembl chr 9:81,837,688...81,864,193
JBrowse link
Hypomyelinating Leukodystrophy 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIMP2 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 ISO OMIM NCBI chr 3:5,109,617...5,117,919
Ensembl chr 3:5,109,617...5,117,985
JBrowse link
Hypomyelinating Leukodystrophy 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DEGS1 delta 4-desaturase, sphingolipid 1 ISO OMIM NCBI chr10:12,529,021...12,568,447
Ensembl chr10:12,557,766...12,569,008
JBrowse link
Hypomyelinating Leukodystrophy 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM63A transmembrane protein 63A ISO OMIM NCBI chr10:13,771,795...13,814,442
Ensembl chr10:13,769,603...13,814,020
JBrowse link
hypomyelinating leukodystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJC2 gap junction protein gamma 2 ISO OMIM NCBI chr 2:51,257,623...51,267,969
Ensembl chr 2:51,258,207...51,267,966
JBrowse link
G SNAP29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 2 ClinVar PMID:25356970 NCBI chr14:50,492,187...50,511,475
Ensembl chr14:50,492,154...50,511,456
JBrowse link
Hypomyelinating Leukodystrophy 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNP 2',3'-cyclic nucleotide 3' phosphodiesterase ISO OMIM NCBI chr12:20,758,081...20,765,655
Ensembl chr12:20,758,081...20,776,868
JBrowse link
hypomyelinating leukodystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIMP1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 ISO OMIM NCBI chr 8:115,437,453...115,476,735
Ensembl chr 8:115,329,107...115,476,704
JBrowse link
hypomyelinating leukodystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO OMIM NCBI chr15:101,360,355...101,373,498
Ensembl chr15:101,360,094...101,373,527
JBrowse link
G POLR3A RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 4 ClinVar PMID:29389947 NCBI chr14:80,410,143...80,471,740
Ensembl chr14:80,410,147...80,471,700
JBrowse link
hypomyelinating leukodystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASP10 caspase 10 ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:16446975 PMID:22995991 PMID:25741868 PMID:28492532 NCBI chr15:104,858,082...104,895,941
Ensembl chr15:104,858,100...104,894,933
JBrowse link
G FAM126A family with sequence similarity 126 member A ISO OMIM NCBI chr 9:91,729,044...91,821,629
Ensembl chr 9:91,729,054...91,821,619
JBrowse link
hypomyelinating leukodystrophy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TUBB4A tubulin beta 4A class IVa ISO OMIM NCBI chr 2:72,599,244...72,605,362
Ensembl chr 2:72,599,706...72,619,450
JBrowse link
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7 ClinVar PMID:25741868 NCBI chr16:29,439,294...29,808,855
Ensembl chr16:29,439,263...29,809,748
JBrowse link
G POLR3A RNA polymerase III subunit A ISO OMIM NCBI chr14:80,410,143...80,471,740
Ensembl chr14:80,410,147...80,471,700
JBrowse link
G RPS24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Pol III-related leukodystrophy
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7
ClinVar PMID:25741868 PMID:27029625 NCBI chr14:80,473,867...80,480,818 JBrowse link
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHEK2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH HYPODONTIA AND HYPOGONADOTROPIC HYPOGONADISM ClinVar PMID:14612911 PMID:15087378 PMID:17721994 PMID:18571837 PMID:21244692 PMID:23960188 PMID:24390236 PMID:25186627 PMID:25231023 PMID:25326637 PMID:25741868 PMID:26467025 PMID:26787654 PMID:27153395 PMID:27443514 PMID:27595995 PMID:27878467 PMID:28492532 PMID:28553140 PMID:28828701 PMID:29335925 PMID:30851065 NCBI chr14:45,699,833...45,967,350
Ensembl chr14:45,926,613...45,967,296
JBrowse link
hypomyelinating leukodystrophy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RARS1 arginyl-tRNA synthetase 1 ISO OMIM NCBI chr16:55,373,739...55,412,076
Ensembl chr16:55,373,726...55,412,117
JBrowse link
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PANK2 pantothenate kinase 2 ISO OMIM NCBI chr17:31,797,604...31,844,301
Ensembl chr17:31,798,776...31,828,627
JBrowse link
Karak Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLA2G6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Karak syndrome ClinVar PMID:16783378 NCBI chr 5:9,713,809...9,777,921
Ensembl chr 5:9,685,214...9,777,922
JBrowse link
leukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:30311386 NCBI chr  X:106,676,596...106,708,290
Ensembl chr  X:106,670,519...106,708,317
JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:24462884 PMID:26104972 PMID:28492532 PMID:32581362 NCBI chr 3:69,253,742...69,417,043
Ensembl chr 3:69,253,748...69,417,397
JBrowse link
G ARSA arylsulfatase A ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:1671769 PMID:1684088 PMID:7866401 PMID:8723680 PMID:9096767 PMID:9600244 PMID:10381328 PMID:12081727 PMID:12809637 PMID:14517960 PMID:15952986 PMID:18693274 PMID:20339381 PMID:23581857 PMID:23701968 PMID:24001781 PMID:25741868 PMID:26462614 PMID:26890752 PMID:28492532 PMID:30311386 NCBI chr 5:107,103...110,330
Ensembl chr 5:107,149...111,518
JBrowse link
G DEGS1 delta 4-desaturase, sphingolipid 1 ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868 PMID:30620337 PMID:31186544 NCBI chr10:12,529,021...12,568,447
Ensembl chr10:12,557,766...12,569,008
JBrowse link
G EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868 NCBI chr13:122,060,408...122,070,327
Ensembl chr13:122,060,484...122,070,708
JBrowse link
G GALC galactosylceramidase ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:8940268 PMID:9338580 PMID:16607461 PMID:20410102 PMID:20886637 PMID:22520351 PMID:25741868 PMID:26108647 PMID:27442402 PMID:27638593 PMID:28492532 PMID:29286531 PMID:30311386 NCBI chr 7:109,894,576...109,961,407
Ensembl chr 7:109,894,188...109,961,407
JBrowse link
G KARS1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868 NCBI chr 6:12,057,475...12,073,749
Ensembl chr 6:12,056,571...12,073,749
JBrowse link
G MEN1 menin 1 ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:12652570 PMID:23321498 PMID:25741868 PMID:28492532 NCBI chr 2:7,358,130...7,364,952
Ensembl chr 2:7,357,951...7,365,128
JBrowse link
G MLC1 modulator of VRAC current 1 ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:11254442 PMID:11935341 PMID:30311386 NCBI chr 5:571,921...593,531
Ensembl chr 5:571,961...591,823
JBrowse link
G PSEN1 presenilin 1 ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868 PMID:30311386 PMID:31153663 NCBI chr 7:96,478,179...96,567,884
Ensembl chr 7:96,478,181...96,569,132
JBrowse link
G RAB33A RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:30311386 NCBI chr  X:106,708,402...106,723,803
Ensembl chr  X:106,712,272...106,723,413
JBrowse link
G SPTBN2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:30311386 NCBI chr 2:5,683,414...5,739,418
Ensembl chr 2:5,695,858...5,739,417
JBrowse link
G TMEM63A transmembrane protein 63A ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868 PMID:31587869 NCBI chr10:13,771,795...13,814,442
Ensembl chr10:13,769,603...13,814,020
JBrowse link
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLL3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by term: Leukodystrophy and acquired microcephaly with or without dystonia ClinVar PMID:25741868 NCBI chr 6:48,135,738...48,155,373
Ensembl chr 6:48,147,730...48,155,373
JBrowse link
G PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 ISO OMIM NCBI chr 6:48,069,532...48,080,001
Ensembl chr 6:48,069,564...48,079,672
JBrowse link
leukoencephalopathy with vanishing white matter term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter ClinVar PMID:25741868 NCBI chr  X:111,796,485...111,917,195
Ensembl chr  X:111,796,488...111,916,733
JBrowse link
G EIF2B1 eukaryotic translation initiation factor 2B subunit alpha ISO OMIM NCBI chr14:29,355,497...29,367,918
Ensembl chr14:29,332,233...29,367,918
JBrowse link
G EIF2B2 eukaryotic translation initiation factor 2B subunit beta ISO OMIM NCBI chr 7:98,203,820...98,246,199
Ensembl chr 7:98,203,814...98,259,183
JBrowse link
G EIF2B3 eukaryotic translation initiation factor 2B subunit gamma ISO OMIM NCBI chr 6:166,353,918...166,487,581
Ensembl chr 6:166,353,934...166,494,698
JBrowse link
G EIF2B4 eukaryotic translation initiation factor 2B subunit delta ISO OMIM NCBI chr 3:111,781,661...111,786,377
Ensembl chr 3:111,780,332...111,786,377
JBrowse link
G EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon ISO OMIM NCBI chr13:122,060,408...122,070,327
Ensembl chr13:122,060,484...122,070,708
JBrowse link
Meckel syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NPHP3 nephrocystin 3 ISO OMIM NCBI chr13:73,843,770...73,901,020 JBrowse link
megalencephalic leukoencephalopathy with subcortical cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HEPACAM hepatic and glial cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts
CTD
ClinVar
PMID:21419380 PMID:25741868 PMID:28492532 NCBI chr 9:52,115,494...52,131,801
Ensembl chr 9:52,115,500...52,131,505
JBrowse link
G HEPN1 hepatocellular carcinoma, down-regulated 1 ISO ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts ClinVar NCBI chr 9:52,115,257...52,116,284 JBrowse link
G MLC1 modulator of VRAC current 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts
CTD
ClinVar
PMID:11254442 PMID:25741868 NCBI chr 5:571,921...593,531
Ensembl chr 5:571,961...591,823
JBrowse link
megalencephalic leukoencephalopathy with subcortical cysts 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HEPACAM hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 ClinVar PMID:25741868 PMID:29389947 NCBI chr 9:52,115,494...52,131,801
Ensembl chr 9:52,115,500...52,131,505
JBrowse link
G MLC1 modulator of VRAC current 1 ISO OMIM NCBI chr 5:571,921...593,531
Ensembl chr 5:571,961...591,823
JBrowse link
megalencephalic leukoencephalopathy with subcortical cysts 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HEPACAM hepatic and glial cell adhesion molecule ISO OMIM NCBI chr 9:52,115,494...52,131,801
Ensembl chr 9:52,115,500...52,131,505
JBrowse link
megalencephalic leukoencephalopathy with subcortical cysts 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HEPACAM hepatic and glial cell adhesion molecule ISO OMIM NCBI chr 9:52,115,494...52,131,801
Ensembl chr 9:52,115,500...52,131,505
JBrowse link
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT3 AKT serine/threonine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22729224 NCBI chr10:16,441,465...16,741,745
Ensembl chr10:16,441,447...16,741,339
JBrowse link
G CCND2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24705253 PMID:29642246 NCBI chr 5:66,092,483...66,114,575
Ensembl chr 5:66,087,379...66,114,571
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22729224 NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,277,232
JBrowse link
G PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME
CTD
ClinVar
PMID:16357568 PMID:21984976 PMID:22729224 PMID:22989095 PMID:23449172 PMID:23592320 PMID:23606607 PMID:23619167 PMID:23745724 PMID:24497998 PMID:25741868 PMID:26520804 PMID:26860062 PMID:27854409 PMID:28086757 PMID:28492532 PMID:28502725 PMID:30311386 NCBI chr 2:59,637,363...59,652,075 JBrowse link
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 ISO OMIM NCBI chr 2:59,637,363...59,652,075 JBrowse link
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT3 AKT serine/threonine kinase 3 ISO OMIM NCBI chr10:16,441,465...16,741,745
Ensembl chr10:16,441,447...16,741,339
JBrowse link
G C10H1orf100 chromosome 10 C1orf100 homolog ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr10:17,198,860...17,215,195 JBrowse link
G CEP170 centrosomal protein 170 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr10:16,068,544...16,191,277
Ensembl chr10:16,068,539...16,191,137
JBrowse link
G PLD5 phospholipase D family member 5 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr10:15,420,600...15,723,890
Ensembl chr10:15,419,652...15,723,241
JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr10:16,191,178...16,441,828
Ensembl chr10:16,191,156...16,441,819
JBrowse link
G ZBTB18 zinc finger and BTB domain containing 18 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr10:16,913,022...16,921,722
Ensembl chr10:16,915,501...16,923,527
JBrowse link
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCND2 cyclin D2 ISO OMIM NCBI chr 5:66,092,483...66,114,575
Ensembl chr 5:66,087,379...66,114,571
JBrowse link
neuroaxonal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IREB2 iron responsive element binding protein 2 ISO protein:increased expression:brain (mouse) RGD PMID:26506412 RGD:11344088 NCBI chr 7:47,481,539...47,529,199
Ensembl chr 7:47,479,629...47,529,227
JBrowse link
G NAGA alpha-N-acetylgalactosaminidase ISO CTD Direct Evidence: marker/mechanism
Schindler disease, OMIM:609241, DNA:point mutation:exon:E325K
CTD
RGD
PMID:2243144 RGD:1600557 NCBI chr 5:6,580,141...6,587,550
Ensembl chr 5:6,571,037...6,590,546
JBrowse link
G PLA2G6 phospholipase A2 group VI ISO DNA:point mutation:cds
DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple
DNA:insertion:intron (mouse)
DNA:deletion:cds:p.V691del (human)
RGD PMID:17033970 PMID:18305254 PMID:19138334 PMID:19893029 PMID:22442204 RGD:6482732 RGD:6482735 RGD:6482736 RGD:6482739 RGD:6482740 NCBI chr 5:9,713,809...9,777,921
Ensembl chr 5:9,685,214...9,777,922
JBrowse link
G TECPR2 tectonin beta-propeller repeat containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26555167
G UCHL1 ubiquitin C-terminal hydrolase L1 ISO DNA:deletion RGD PMID:11555633 RGD:1302546 NCBI chr 8:32,353,766...32,367,288
Ensembl chr 8:32,353,246...32,367,323
JBrowse link
G UCHL3 ubiquitin C-terminal hydrolase L3 ISO RGD PMID:11555633 RGD:1302546 NCBI chr11:47,829,037...47,885,800
Ensembl chr11:47,829,103...47,887,629
JBrowse link
neurodegeneration with brain iron accumulation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS2 alanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Iron accumulation in brain ClinVar PMID:32581362 NCBI chr 7:39,301,020...39,314,296
Ensembl chr 7:39,299,460...39,313,778
JBrowse link
G CRAT carnitine O-acetyltransferase ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:25741868 PMID:29395073 NCBI chr 1:269,387,430...269,401,334
Ensembl chr 1:269,386,650...269,401,331
JBrowse link
G PANK2 pantothenate kinase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 1, atypical
ClinVar Annotator: match by term: Iron accumulation in brain
CTD
ClinVar
PMID:11479594 PMID:12510040 PMID:15565311 PMID:15659606 PMID:15834858 PMID:16272150 PMID:16437574 PMID:16450344 PMID:20629144 PMID:22221393 PMID:22416811 PMID:23968566 PMID:24075960 PMID:24215330 PMID:24348190 PMID:25741868 PMID:25802776 PMID:26087139 PMID:26795593 PMID:27185474 PMID:28492532 PMID:28708303 PMID:28781879 PMID:29590070 PMID:30311386 NCBI chr17:31,797,604...31,844,301
Ensembl chr17:31,798,776...31,828,627
JBrowse link
G PLA2G6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Iron accumulation in brain
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
ClinVar PMID:10227637 PMID:12843330 PMID:16783378 PMID:17033970 PMID:18359254 PMID:18414213 PMID:18443314 PMID:18570303 PMID:18799783 PMID:19138334 PMID:19893029 PMID:20301718 PMID:20584031 PMID:20619503 PMID:20886109 PMID:20938027 PMID:20947703 PMID:22934738 PMID:24033266 PMID:24108619 PMID:24130795 PMID:24745848 PMID:24800972 PMID:24847269 PMID:25164370 PMID:25326635 PMID:25326637 PMID:25558065 PMID:25741868 PMID:26668131 PMID:27196560 PMID:27378808 PMID:28492532 PMID:29472584 PMID:29915382 PMID:30340910 PMID:30619057 NCBI chr 5:9,713,809...9,777,921
Ensembl chr 5:9,685,214...9,777,922
JBrowse link
G REPS1 RALBP1 associated Eps domain containing 1 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:29395073 NCBI chr 1:25,481,283...25,565,284
Ensembl chr 1:25,481,342...25,565,278
JBrowse link
G WDR45 WD repeat domain 45 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
CTD
ClinVar
PMID:23176820 PMID:23435086 PMID:24368176 PMID:24621584 PMID:25741868 PMID:25744623 PMID:28492532 PMID:28711740 NCBI chr  X:43,150,691...43,155,981
Ensembl chr  X:43,147,476...43,156,195
JBrowse link
neurodegeneration with brain iron accumulation 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLA2G6 phospholipase A2 group VI ISO OMIM NCBI chr 5:9,713,809...9,777,921
Ensembl chr 5:9,685,214...9,777,922
JBrowse link
neurodegeneration with brain iron accumulation 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLA2G6 phospholipase A2 group VI ISO OMIM NCBI chr 5:9,713,809...9,777,921
Ensembl chr 5:9,685,214...9,777,922
JBrowse link
neurodegeneration with brain iron accumulation 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FTL ferritin light chain ISO OMIM NCBI chr 6:54,231,121...54,232,756
Ensembl chr 6:54,227,164...54,232,752
JBrowse link
G GYS1 glycogen synthase 1 ISO ClinVar Annotator: match by term: Neuroferritinopathy ClinVar PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 6:54,234,600...54,250,211
Ensembl chr 6:54,233,050...54,250,261
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 C6H19orf12 chromosome 6 C19orf12 homolog ISO OMIM NCBI chr 6:39,813,644...39,825,069
Ensembl chr 6:39,814,494...39,825,001
JBrowse link
neurodegeneration with brain iron accumulation 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OTUD5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar NCBI chr  X:43,001,491...43,029,471
Ensembl chr  X:43,000,227...43,029,465
JBrowse link
G WDR45 WD repeat domain 45 ISO OMIM NCBI chr  X:43,150,691...43,155,981
Ensembl chr  X:43,147,476...43,156,195
JBrowse link
neurodegeneration with brain iron accumulation 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COASY Coenzyme A synthase ISO OMIM NCBI chr12:20,258,366...20,262,849
Ensembl chr12:20,257,613...20,262,795
JBrowse link
Neurodegeneration with Brain Iron Accumulation 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G REPS1 RALBP1 associated Eps domain containing 1 ISO OMIM NCBI chr 1:25,481,283...25,565,284
Ensembl chr 1:25,481,342...25,565,278
JBrowse link
Neurodegeneration with Brain Iron Accumulation 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRAT carnitine O-acetyltransferase ISO OMIM NCBI chr 1:269,387,430...269,401,334
Ensembl chr 1:269,386,650...269,401,331
JBrowse link
normal pressure hydrocephalus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFAP43 cilia and flagella associated protein 43 ISO OMIM NCBI chr14:115,073,529...115,201,965
Ensembl chr14:115,073,529...115,174,043
JBrowse link
G PMPCA peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Normal pressure hydrocephalus ClinVar PMID:10528257 PMID:25808372
pantothenate kinase-associated neurodegeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PANK2 pantothenate kinase 2 ISO OMIM NCBI chr17:31,797,604...31,844,301
Ensembl chr17:31,798,776...31,828,627
JBrowse link
G SNCA synuclein alpha ISO RGD PMID:10934140 RGD:6480098 NCBI chr 8:129,247,724...129,388,307
Ensembl chr 8:129,248,819...129,388,307
JBrowse link
G SNCB synuclein beta ISO RGD PMID:10934140 RGD:6480098 NCBI chr 2:81,287,764...81,302,859
Ensembl chr 2:81,287,878...81,302,863
JBrowse link
G SNCG synuclein gamma ISO RGD PMID:10934140 RGD:6480098 NCBI chr14:87,916,353...87,922,111
Ensembl chr14:87,904,773...87,922,112
JBrowse link
Pelizaeus-Merzbacher disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJC2 gap junction protein gamma 2 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:23143715 PMID:25741868 PMID:31319225 NCBI chr 2:51,257,623...51,267,969
Ensembl chr 2:51,258,207...51,267,966
JBrowse link
G LMNB1 lamin B1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:129,807,228...129,862,211
Ensembl chr 2:129,807,318...129,871,725
JBrowse link
G PLP1 proteolipid protein 1 ISO OMIM NCBI chr  X:84,676,627...84,683,517
Ensembl chr  X:84,665,925...84,695,533
JBrowse link
G RAB9B RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, mild
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, connatal
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, atypical
ClinVar PMID:1376966 PMID:1384324 PMID:1605230 PMID:1707231 PMID:1715570 PMID:2479017 PMID:2480601 PMID:2773936 PMID:3827224 PMID:7573159 PMID:7574457 PMID:7683951 PMID:8696336 PMID:8723686 PMID:8786077 PMID:9056547 PMID:9482656 PMID:11071483 PMID:12910435 PMID:19396823 PMID:20301361 PMID:24088041 PMID:25326635 PMID:25491635 PMID:25741868 PMID:26125040 PMID:26467025 PMID:26633545 PMID:27535533 PMID:28492532 PMID:29451896 NCBI chr  X:84,721,269...84,733,000
Ensembl chr  X:84,721,274...84,732,990
JBrowse link
peroxisomal acyl-CoA oxidase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACOX1 acyl-CoA oxidase 1 ISO OMIM NCBI chr12:5,450,913...5,479,550
Ensembl chr12:5,428,360...5,479,544
JBrowse link
G TEN1 TEN1 subunit of CST complex ISO ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy ClinVar NCBI chr12:5,430,940...5,451,140 JBrowse link
peroxisome biogenesis disorder 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PEX5 peroxisomal biogenesis factor 5 ISO OMIM NCBI chr 5:63,542,422...63,562,762
Ensembl chr 5:63,542,431...63,562,849
JBrowse link
Posthemorrhagic Hydrocephalus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCAN brevican treatment ISO RGD PMID:22186713 RGD:6483013 NCBI chr 4:93,432,331...93,450,895
Ensembl chr 4:93,432,335...93,450,827
JBrowse link
G L1CAM L1 cell adhesion molecule ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:22186713 RGD:6483013 NCBI chr  X:124,595,649...124,618,292
Ensembl chr  X:124,595,651...124,618,307
JBrowse link
Progressive Leukodystrophy, Early Childhood-Onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACER3 alkaline ceramidase 3 ISO OMIM NCBI chr 9:10,985,078...11,167,386
Ensembl chr 9:10,951,561...11,165,493
JBrowse link
Recurrent Metabolic Encephalomyopathic Crises with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TANGO2 transport and golgi organization 2 homolog ISO OMIM NCBI chr14:51,443,597...51,464,370
Ensembl chr14:51,443,615...51,464,370
JBrowse link
Renal-Hepatic-Pancreatic Dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NPHP3 nephrocystin 3 ISO OMIM NCBI chr13:73,843,770...73,901,020 JBrowse link
RETINAL DYSTROPHY WITH LEUKODYSTROPHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACBD5 acyl-CoA binding domain containing 5 ISO OMIM NCBI chr10:48,883,116...48,922,377
Ensembl chr10:48,883,201...48,922,289
JBrowse link
Ritscher-Schinzel syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC22 coiled-coil domain containing 22 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:43,285,232...43,303,865
Ensembl chr  X:43,285,246...43,307,204
JBrowse link
G WASHC5 WASH complex subunit 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:14,598,133...14,667,535
Ensembl chr 4:14,598,148...14,668,327
JBrowse link
Ritscher-Schinzel syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 ClinVar PMID:19377476 PMID:21826058 PMID:24916641 NCBI chr  X:43,285,232...43,303,865
Ensembl chr  X:43,285,246...43,307,204
JBrowse link
G DPYSL5 dihydropyrimidinase like 5 ISO ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 ClinVar PMID:31474318 NCBI chr 3:112,155,538...112,252,963
Ensembl chr 3:112,155,541...112,252,968
JBrowse link
G WASHC5 WASH complex subunit 5 ISO OMIM NCBI chr 4:14,598,133...14,667,535
Ensembl chr 4:14,598,148...14,668,327
JBrowse link
Ritscher-Schinzel syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC22 coiled-coil domain containing 22 ISO OMIM NCBI chr  X:43,285,232...43,303,865
Ensembl chr  X:43,285,246...43,307,204
JBrowse link
Schindler Disease, Type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NAGA alpha-N-acetylgalactosaminidase ISO OMIM NCBI chr 5:6,580,141...6,587,550
Ensembl chr 5:6,571,037...6,590,546
JBrowse link
syndromic X-linked intellectual disability 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP1S2 adaptor related protein complex 1 subunit sigma 2 ISO OMIM NCBI chr  X:12,367,785...12,397,672
Ensembl chr  X:12,367,156...12,398,496
JBrowse link
G CUL4B cullin 4B ISO ClinVar Annotator: match by term: Pettigrew syndrome ClinVar PMID:25741868 NCBI chr  X:98,668,945...98,730,582
Ensembl chr  X:98,668,945...98,730,602
JBrowse link
ventriculomegaly - cystic kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRB2 crumbs cell polarity complex component 2 ISO OMIM NCBI chr 1:264,277,549...264,301,731
Ensembl chr 1:264,276,572...264,301,725
JBrowse link
X-Linked Hydrocephalus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G L1CAM L1 cell adhesion molecule ISO OMIM NCBI chr  X:124,595,649...124,618,292
Ensembl chr  X:124,595,651...124,618,307
JBrowse link
X-Linked Hydrocephalus, with Congenital Idiopathic Intestinal Pseudoobstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Hydrocephalus, X-linked, with hirschsprung disease
ClinVar Annotator: match by term: Hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction
ClinVar PMID:9279760 PMID:11857550 PMID:12650797 PMID:15148591 PMID:15368500 PMID:28492532 NCBI chr  X:124,595,649...124,618,292
Ensembl chr  X:124,595,651...124,618,307
JBrowse link
X-linked VACTERL association term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAZ1A bromodomain adjacent to zinc finger domain 1A ISO ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations ClinVar NCBI chr 7:64,969,626...65,069,969
Ensembl chr 7:64,877,674...65,069,889
JBrowse link
G FANCB FA complementation group B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL-H
ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked
CTD
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr  X:11,386,360...11,408,958
Ensembl chr  X:10,960,996...11,409,057
JBrowse link
G FANCL FA complementation group L ISO ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked ClinVar PMID:25754594 NCBI chr 3:83,136,355...83,436,948
Ensembl chr 3:83,337,208...83,436,944
JBrowse link
G PTEN phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL-H
ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly
CTD
ClinVar
PMID:9399897 PMID:9467011 PMID:10232405 PMID:10353779 PMID:10400993 PMID:10468583 PMID:10749983 PMID:10848731 PMID:11238682 PMID:11685670 PMID:11748304 PMID:12844284 PMID:14518070 PMID:15805158 PMID:17286265 PMID:17392703 PMID:17427195 PMID:17942903 PMID:19265751 PMID:19668082 PMID:21194675 PMID:21828076 PMID:21956414 PMID:22252256 PMID:22381246 PMID:23442912 PMID:23470840 PMID:23475934 PMID:23695273 PMID:24033266 PMID:24052722 PMID:24136893 PMID:24778394 PMID:25022750 PMID:25132236 PMID:25157968 PMID:25326635 PMID:25669429 PMID:25741868 PMID:25756585 PMID:27477328 PMID:27535533 PMID:28492532 PMID:28526761 PMID:30287823 PMID:32238909 NCBI chr14:99,929,590...100,021,619 JBrowse link
G SALL1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: VACTERL-H ClinVar PMID:25741868 NCBI chr 6:33,731,666...33,748,698
Ensembl chr 6:33,732,016...33,748,704
JBrowse link
G ZIC3 Zic family member 3 ISO OMIM NCBI chr  X:112,592,951...112,605,087
Ensembl chr  X:112,592,953...112,604,068
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12649
    disease of anatomical entity 12188
      nervous system disease 9948
        central nervous system disease 8426
          brain disease 7798
            cerebral degeneration 238
              Alpers-Huttenlocher syndrome + 5
              cerebral lipidosis 0
              hydrocephalus + 88
              leukodystrophy + 117
              neuroaxonal dystrophy + 28
              senile degeneration of brain 0
paths to the root