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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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


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cerebral degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: Brain degeneration ClinVar PMID:30311386 NCBI chrNW_004936580:4,715,869...4,720,752 JBrowse link
G Glb1 galactosidase beta 1 ISO ClinVar Annotator: match by term: Brain degeneration ClinVar PMID:10338095, PMID:10737981, PMID:15714521, PMID:16941474, PMID:17309651, PMID:17664528, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chrNW_004936473:23,348,431...23,440,271 JBrowse link
G Ptpn23 protein tyrosine phosphatase non-receptor type 23 ISO ClinVar Annotator: match by term: Brain degeneration ClinVar PMID:30311386 NCBI chrNW_004936596:1,094,285...1,124,483 JBrowse link
adrenoleukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 susceptibility ISO OMIM
RGD
PMID:8048932 RGD:1598655 NCBI chrNW_004936809:615,133...634,618 JBrowse link
G Acsbg1 acyl-CoA synthetase bubblegum family member 1 ISO RGD PMID:15800013 RGD:11065111 NCBI chrNW_004936471:36,767,656...36,822,677 JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004936809:791,275...807,448 JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004936809:1,179,507...1,188,172 JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004936809:789,337...790,986 JBrowse link
G Bcap31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004936809:582,689...614,800 JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004936927:134,770...144,057 JBrowse link
G Dnase1l1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004936809:1,151,312...1,159,017 JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004936809:1,127,701...1,130,195 JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004936927:189,359...301,791 JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004936809:1,248,865...1,258,894 JBrowse link
G Fam50a family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004936809:1,195,479...1,202,126 JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004936809:1,097,288...1,123,206 JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004936809:1,269,900...1,285,853 JBrowse link
G Gab3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004936927:68,506...93,899 JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004936809:1,188,793...1,194,816 JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004936809:827,008...853,689 JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chrNW_004936492:5,042,353...5,049,216 JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004936809:666,231...675,279 JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chrNW_004936545:6,139,130...6,144,543 JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004936809:1,280,254...1,306,964 JBrowse link
G Irak1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004936809:891,407...900,311 JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004936809:736,385...768,822 JBrowse link
G Lage3 L antigen family member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004936809:1,229,933...1,232,448 JBrowse link
G Mecp2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004936809:902,938...967,771 JBrowse link
G Mmp10 matrix metallopeptidase 10 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chrNW_004936551:5,188,395...5,197,477 JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chrNW_004936475:7,801,356...7,825,831 JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chrNW_004936514:7,038,240...7,045,873 JBrowse link
G Mpp1 membrane palmitoylated protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004936927:147,448...170,435 JBrowse link
G Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004936809:812,454...817,226 JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004936809:681,412...707,932 JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10441568 NCBI chrNW_004936491:6,530,385...6,559,706 JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12851857 NCBI chrNW_004936807:1,035,733...1,046,225 JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004936809:1,209,787...1,226,726 JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004936809:645,569...659,850 JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004936809:817,392...823,926 JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004936809:1,146,994...1,149,573 JBrowse link
G Slc10a3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004936809:1,241,980...1,245,986 JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004936809:571,234...578,298 JBrowse link
G Smim9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004936927:171,867...186,718 JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chrNW_004936489:11,178,338...11,191,601 JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004936809:661,264...666,198 JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004936809:675,178...679,245 JBrowse link
G Taz tafazzin ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004936809:1,160,265...1,168,956 JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004936809:1,022,795...1,042,475 JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chrNW_004936502:13,345,936...13,350,170 JBrowse link
G Tktl1 transketolase like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004936809:1,048,672...1,084,125 JBrowse link
G Ubl4a ubiquitin like 4A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chrNW_004936809:1,238,459...1,241,319 JBrowse link
adult-onset autosomal dominant demyelinating leukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmnb1 lamin B1 ISO OMIM NCBI chrNW_004936504:157,459...211,916 JBrowse link
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf1r colony stimulating factor 1 receptor ISO OMIM NCBI chrNW_004936504:4,898,947...4,927,195 JBrowse link
Alexander disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfap glial fibrillary acidic protein ISO OMIM NCBI chrNW_004936541:1,265,915...1,275,232 JBrowse link
Alpers-Huttenlocher syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 ISO RGD PMID:20680636 RGD:5148026 NCBI chrNW_004936550:5,931,201...5,943,999 JBrowse link
G Edar ectodysplasin A receptor ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241, PMID:18231121, PMID:20236127, PMID:20979233, PMID:25741868, PMID:28492532 NCBI chrNW_004936829:429,667...458,943 JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type)
ClinVar PMID:15477547, PMID:16177225, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17950645, PMID:17980715, PMID:18414213, PMID:18991199, PMID:19010300, PMID:20691285, PMID:21038416, PMID:21228398, PMID:21880868, PMID:23524600, PMID:23783014, PMID:24033266, PMID:25462018, PMID:25741868, PMID:26104464, PMID:26467025, PMID:27987238, PMID:28492532 NCBI chrNW_004936483:15,096,215...15,179,856 JBrowse link
G Polg DNA polymerase gamma, catalytic subunit susceptibility ISO DNA:missense mutation:cds:p.P1073L (3218C>T) (human) OMIM
RGD
PMID:20142534 RGD:15039298 NCBI chrNW_004936483:15,178,947...15,196,277 JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar NCBI chrNW_004936483:15,086,485...15,097,980 JBrowse link
CADASIL term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htra1 HtrA serine peptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936486:11,271,130...11,317,271 JBrowse link
G Notch3 notch receptor 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
CTD
ClinVar
PMID:15229130, PMID:25741868, PMID:26467025 NCBI chrNW_004936596:5,265,984...5,301,430 JBrowse link
CADASIL 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch3 notch receptor 3 ISO OMIM NCBI chrNW_004936596:5,265,984...5,301,430 JBrowse link
CADASIL 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htra1 HtrA serine peptidase 1 ISO OMIM NCBI chrNW_004936486:11,271,130...11,317,271 JBrowse link
Canavan disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspa aspartoacylase susceptibility ISO OMIM
RGD
PMID:8252036 RGD:1599291 NCBI chrNW_004936677:219,459...232,545 JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 ISO RGD PMID:19739253 RGD:5686858 NCBI chrNW_004936471:34,438,676...34,475,005 JBrowse link
G Ctns cystinosin, lysosomal cystine transporter ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285, PMID:10909858, PMID:28492532 NCBI chrNW_004936677:342,964...360,890 JBrowse link
G Emc6 ER membrane protein complex subunit 6 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285, PMID:10909858, PMID:28492532 NCBI chrNW_004936677:367,364...368,268 JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO protein:decreased expression:cerebellum, brain stem RGD PMID:15016427 RGD:6484588 NCBI chrNW_004936601:5,415,857...5,435,964 JBrowse link
G Haspin histone H3 associated protein kinase ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285, PMID:10909858, PMID:28492532 NCBI chrNW_004936677:401,198...404,472 JBrowse link
G Itgae integrin subunit alpha E ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285, PMID:10909858, PMID:28492532 NCBI chrNW_004936677:392,352...450,929 JBrowse link
G P2rx5 purinergic receptor P2X 5 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285, PMID:10909858, PMID:28492532 NCBI chrNW_004936677:370,141...385,669 JBrowse link
G Shpk sedoheptulokinase ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285, PMID:10909858, PMID:28492532 NCBI chrNW_004936677:314,328...342,892 JBrowse link
G Spata22 spermatogenesis associated 22 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system
ClinVar Annotator: match by term: Canavan Disease, Familial Form
ClinVar PMID:7599639, PMID:7668285, PMID:8023850, PMID:8037206, PMID:8088831, PMID:8252036, PMID:8659549, PMID:9452117, PMID:9887384, PMID:10407784, PMID:10564886, PMID:10701101, PMID:10704428, PMID:10724099, PMID:10909858, PMID:11238686, PMID:12205125, PMID:12638939, PMID:14567959, PMID:15243987, PMID:16138249, PMID:16217711, PMID:16437572, PMID:16802711, PMID:16854607, PMID:17027983, PMID:17194761, PMID:17391648, PMID:17999961, PMID:18070137, PMID:18978679, PMID:19685155, PMID:20129749, PMID:20301412, PMID:21228398, PMID:21520333, PMID:21907889, PMID:22019069, PMID:22219087, PMID:22611636, PMID:22750302, PMID:22850825, PMID:22878930, PMID:23233226, PMID:23253610, PMID:23971085, PMID:24033266, PMID:25003821, PMID:25107638, PMID:25741868, PMID:26586007, PMID:26992473, PMID:27457812, PMID:27531131, PMID:27927234, PMID:28101991, PMID:28492532 NCBI chrNW_004936677:167,324...197,860 JBrowse link
G Tax1bp3 Tax1 binding protein 3 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285, PMID:10909858, PMID:28492532 NCBI chrNW_004936677:361,300...367,234 JBrowse link
G Trpv1 transient receptor potential cation channel subfamily V member 1 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285, PMID:10909858, PMID:28492532 NCBI chrNW_004936677:277,304...326,907 JBrowse link
G Trpv3 transient receptor potential cation channel subfamily V member 3 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285, PMID:10909858, PMID:28492532 NCBI chrNW_004936677:239,133...270,512 JBrowse link
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htra1 HtrA serine peptidase 1 ISO OMIM NCBI chrNW_004936486:11,271,130...11,317,271 JBrowse link
cerebral folate receptor alpha deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anapc15 anaphase promoting complex subunit 15 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chrNW_004936498:1,460,795...1,468,363 JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chrNW_004936794:1,432,379...1,468,966 JBrowse link
G Folr1 folate receptor alpha ISO OMIM NCBI chrNW_004936498:1,489,916...1,497,200 JBrowse link
G Il18bp interleukin 18 binding protein ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chrNW_004936498:1,353,569...1,358,312 JBrowse link
G Lamtor1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chrNW_004936498:1,446,794...1,459,590 JBrowse link
G Nadsyn1 NAD synthetase 1 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chrNW_004936794:1,394,975...1,423,807 JBrowse link
G Numa1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chrNW_004936498:1,358,598...1,438,041 JBrowse link
G Rnf121 ring finger protein 121 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chrNW_004936498:1,291,072...1,353,487 JBrowse link
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hdac6 histone deacetylase 6 ISO OMIM NCBI chrNW_004936721:757,500...778,416 JBrowse link
Clark-Baraitser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trio trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Clark-Baraitser syndrome ClinVar PMID:25741868 NCBI chrNW_004936665:1,821,580...2,029,839 JBrowse link
G Trip12 thyroid hormone receptor interactor 12 ISO OMIM NCBI chrNW_004936525:6,539,234...6,690,457 JBrowse link
Cole-Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P4hb prolyl 4-hydroxylase subunit beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cole-Carpenter syndrome
CTD
ClinVar
PMID:25741868 NCBI chrNW_004936594:5,368,199...5,379,215 JBrowse link
G Sec24d SEC24 homolog D, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936869:485,706...566,591 JBrowse link
Cole-Carpenter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P4hb prolyl 4-hydroxylase subunit beta ISO OMIM NCBI chrNW_004936594:5,368,199...5,379,215 JBrowse link
Cole-Carpenter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sec24d SEC24 homolog D, COPII coat complex component ISO OMIM NCBI chrNW_004936869:485,706...566,591 JBrowse link
communicating hydrocephalus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfia nuclear factor I A ISO ClinVar Annotator: match by term: Communicating hydrocephalus ClinVar PMID:30311386 NCBI chrNW_004936522:612,357...1,171,079 JBrowse link
G Tmem67 transmembrane protein 67 ISO RGD PMID:30705305 RGD:14995942 NCBI chrNW_004936544:6,887,867...6,931,669 JBrowse link
Congenital Communicating Hydrocephalus 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trim71 tripartite motif containing 71 ISO OMIM NCBI chrNW_004936473:23,223,984...23,290,177 JBrowse link
Congenital Hydrocephalus 2, with or without Brain or Eye Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acadm acyl-CoA dehydrogenase medium chain ISO ClinVar Annotator: match by term: Hydrocephalus, congenital, 2, with or without brain or eye anomalies ClinVar PMID:11673361, PMID:19780764, PMID:20434380, PMID:23028790, PMID:24966162, PMID:27308838, PMID:28492532 NCBI chrNW_004936571:2,761,254...2,797,045 JBrowse link
G Mpdz multiple PDZ domain crumbs cell polarity complex component ISO OMIM NCBI chrNW_004936539:6,934,180...7,084,117 JBrowse link
Congenital Hydrocephalus 3, with Brain Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr81 WD repeat domain 81 ISO OMIM NCBI chrNW_004936538:7,856,263...7,868,249 JBrowse link
Dandy Walker Cyst term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Dandy-Walker cyst ClinVar PMID:4386970, PMID:5771505, PMID:16372351, PMID:16523510, PMID:16804887, PMID:16825433, PMID:17551924, PMID:18039235, PMID:18413255, PMID:19206169, PMID:23875798, PMID:24033266, PMID:31474318 NCBI chrNW_004936592:4,728,371...4,833,830 JBrowse link
Dandy-Walker syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Armc9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:28492532, PMID:28625504, PMID:31474318 NCBI chrNW_004936525:5,518,691...5,648,109 JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Dandy-Walker malformation ClinVar PMID:4386970, PMID:5771505, PMID:16372351, PMID:16523510, PMID:16804887, PMID:16825433, PMID:17551924, PMID:18039235, PMID:18413255, PMID:19206169, PMID:23875798, PMID:24033266, PMID:31474318 NCBI chrNW_004936592:4,728,371...4,833,830 JBrowse link
G Chn1 chimerin 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chrNW_004936509:4,507,042...4,677,681 JBrowse link
G Dph1 diphthamide biosynthesis 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25558065 NCBI chrNW_004936538:8,100,977...8,110,704 JBrowse link
G Dpysl5 dihydropyrimidinase like 5 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chrNW_004936493:5,603,069...5,686,451 JBrowse link
G Hyls1 HYLS1 centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chrNW_004936572:6,324,481...6,337,121 JBrowse link
G Kiaa1109 KIAA1109 ortholog ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25558065 NCBI chrNW_004936662:1,329,646...1,526,610 JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chrNW_004936745:911,651...976,878 JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chrNW_004936512:6,819,240...6,860,852 JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:7562969, PMID:8062435, PMID:11772994, PMID:28492532, PMID:30311386 NCBI chrNW_004936809:736,385...768,822 JBrowse link
G LOC101965237 transmembrane protein 47 ISO ClinVar Annotator: match by term: Dandy-Walker cyst ClinVar NCBI chrNW_004936502:1,990,524...2,018,707 JBrowse link
G Maged2 MAGE family member D2 ISO ClinVar Annotator: match by term: Dandy-Walker cyst ClinVar NCBI chrNW_004936751:1,639,276...1,647,494 JBrowse link
G Mid1 midline 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chrNW_004936470:414,420...576,717 JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:7678051, PMID:9211853, PMID:11341328, PMID:15284236, PMID:17499702, PMID:17656670, PMID:19047372, PMID:20124286, PMID:21194675, PMID:21437241, PMID:22209699, PMID:23255827, PMID:23731537, PMID:23731542, PMID:24065723, PMID:24796542, PMID:25158255, PMID:25391964, PMID:25454926, PMID:25803852, PMID:26279204, PMID:26279649, PMID:26455322, PMID:26971580, PMID:28334876, PMID:29226947, PMID:31474318 NCBI chrNW_004936504:4,762,251...4,799,789 JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:30858804, PMID:31474318 NCBI chrNW_004936511:7,860,552...8,082,850 JBrowse link
G Ppp1cb protein phosphatase 1 catalytic subunit beta ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868, PMID:25741869, PMID:27264673, PMID:27681385, PMID:27868344, PMID:28211982, PMID:28492532, PMID:31474318 NCBI chrNW_004936493:3,981,364...4,002,083 JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chrNW_004936572:6,322,725...6,331,844 JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chrNW_004936596:795,940...898,823 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 chrNW_004936512:6,959,656...6,964,299 JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chrNW_004936477:18,339,915...18,364,973 JBrowse link
G Zic1 Zic family member 1 ISO RGD PMID:15338008 RGD:1599905 NCBI chrNW_004936519:7,997,824...8,001,614 JBrowse link
hydrocephalus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adar adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:30311386 NCBI chrNW_004936580:4,183,016...4,208,341 JBrowse link
G Aqp1 aquaporin 1 (Colton blood group) disease_progression ISO RGD PMID:21135737 RGD:5148011 NCBI chrNW_004936478:7,146,997...7,160,369 JBrowse link
G Aqp4 aquaporin 4 disease_progression ISO RGD PMID:21135737 RGD:5148011 NCBI chrNW_004936550:5,931,201...5,943,999 JBrowse link
G Arid1b AT-rich interaction domain 1B ISO RGD PMID:28867767 RGD:13439722 NCBI chrNW_004936489:8,811,094...9,202,423 JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:22842232, PMID:25741868, PMID:26297560, PMID:26410222, PMID:28492532 NCBI chrNW_004936706:476,473...494,659 JBrowse link
G Bok BCL2 family apoptosis regulator BOK ISO mRNA:increased expression:brain:Hydrocephalus-Texas (HTX, RS:0000399) vs. SD (RS:0000681) rats RGD PMID:15964663 RGD:1624238 NCBI chrNW_004936745:344,837...350,950 JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:16439621, PMID:18039235, PMID:18413255, PMID:19376813, PMID:24033266, PMID:25463315, PMID:25741868, PMID:26619011, PMID:28492532, PMID:30311386 NCBI chrNW_004936592:4,728,371...4,833,830 JBrowse link
G Brca1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:7837387, PMID:8644702, PMID:9663595, PMID:12393792, PMID:12566964, PMID:15024741, PMID:15383404, PMID:15876480, PMID:18763032, PMID:18783588, PMID:20373018, PMID:21232165, PMID:21989927, PMID:23199084, PMID:23683081, PMID:24033266, PMID:24312913, PMID:24504028, PMID:25330149, PMID:25682074, PMID:25741868, PMID:25948282, PMID:26083025, PMID:26219728, PMID:26295337, PMID:26467025, PMID:26852130, PMID:27741520, PMID:28324225, PMID:28492532, PMID:29335924, PMID:30311386, PMID:30606148 NCBI chrNW_004936490:17,735,444...17,801,456 JBrowse link
G Ccdc88c coiled-coil domain containing 88C ISO OMIM NCBI chrNW_004936488:18,288,504...18,402,125 JBrowse link
G Ccnd2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chrNW_004936606:4,474,801...4,496,158 JBrowse link
G Cdk8 cyclin dependent kinase 8 ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:25741868 NCBI chrNW_004936948:91,578...236,051 JBrowse link
G Cplane1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Hydrocephaly ClinVar PMID:25407461, PMID:25741868, PMID:26092869, PMID:28125082, PMID:28492532, PMID:30311386 NCBI chrNW_004936518:4,706,496...4,847,283 JBrowse link
G Crppa CDP-L-ribitol pyrophosphorylase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22522421 NCBI chrNW_004936546:2,658,195...2,945,542 JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Hydrocephalus ClinVar NCBI chrNW_004936659:1,341,144...1,394,484 JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:30311386 NCBI chrNW_004936518:4,291,391...4,310,752 JBrowse link
G Gldc glycine decarboxylase ISO RGD PMID:25736695 RGD:12904662 NCBI chrNW_004936539:1,008,340...1,095,044 JBrowse link
G Hmgb1 high mobility group box 1 ISO RGD PMID:22116431 RGD:10402405 NCBI chrNW_004936472:25,236,728...25,246,585 JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:15964663 RGD:1624238 NCBI chrNW_004936506:1,678,069...1,687,632 JBrowse link
G Hydin HYDIN axonemal central pair apparatus protein ISO CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation:exon (mouse)
CTD
RGD
PMID:12719380, PMID:19029900 RGD:634487 NCBI chrNW_004936475:22,523,962...22,836,355 JBrowse link
G Ift122 intraflagellar transport 122 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20493458 NCBI chrNW_004936602:908,034...956,634 JBrowse link
G Itgb1 integrin subunit beta 1 ISO RGD PMID:19726708 RGD:2325325 NCBI chrNW_004936574:1,465,981...1,495,717 JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Hydrocephalus ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004936669:1,834,879...1,867,572 JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: X-linked hydrocephalus ClinVar PMID:7881431, PMID:9300653, PMID:25741868, PMID:31680349 NCBI chrNW_004936809:736,385...768,822 JBrowse link
G Llgl1 LLGL scribble cell polarity complex component 1 ISO RGD PMID:15037549 RGD:1300301 NCBI chrNW_004936741:1,770,797...1,784,716 JBrowse link
G Man1b1 mannosidase alpha class 1B member 1 ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chrNW_004936669:855,349...867,763 JBrowse link
G Mpdz multiple PDZ domain crumbs cell polarity complex component ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:24033266, PMID:28492532 NCBI chrNW_004936539:6,934,180...7,084,117 JBrowse link
G Nin ninein ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:30311386 NCBI chrNW_004936495:14,791,246...14,897,454 JBrowse link
G Ntf3 neurotrophin 3 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:11580868 RGD:1358755 NCBI chrNW_004936709:2,163,510...2,223,429 JBrowse link
G Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Hydrocephaly ClinVar PMID:25741868 NCBI chrNW_004936474:740,582...763,294 JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO mRNA:decreased expression:brain:Hydrocephalus-Texas (HTX, RS:0000399) vs. SD (RS:0000681) rats RGD PMID:15964663 RGD:1624238 NCBI chrNW_004936629:3,672,445...3,725,645 JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:28492532, PMID:29983323 NCBI chrNW_004936626:4,241,993...4,301,919 JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:31474318 NCBI chrNW_004936596:795,940...898,823 JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27399968 NCBI chrNW_004936471:34,206,084...34,260,538 JBrowse link
G Smarcc1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:29983323 NCBI chrNW_004936596:1,257,723...1,407,358 JBrowse link
G Tmem67 transmembrane protein 67 ISO RGD PMID:30705305 RGD:14995942 NCBI chrNW_004936544:6,887,867...6,931,669 JBrowse link
G Trim71 tripartite motif containing 71 ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:29983323 NCBI chrNW_004936473:23,223,984...23,290,177 JBrowse link
G Txn thioredoxin ISO CTD Direct Evidence: marker/mechanism CTD PMID:31310794 NCBI chrNW_004936559:2,811,786...2,822,528 JBrowse link
G Wdr37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:31327508, PMID:31327510, PMID:31474318 NCBI chrNW_004936484:12,948,803...13,020,555 JBrowse link
hydrolethalus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hyls1 HYLS1 centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Hydrolethalus syndrome ClinVar PMID:15843405, PMID:18648327, PMID:19400947, PMID:19656802, PMID:25741868, PMID:28492532 NCBI chrNW_004936572:6,324,481...6,337,121 JBrowse link
G Kif7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21552264 NCBI chrNW_004936483:15,430,735...15,450,872 JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Hydrolethalus syndrome ClinVar PMID:15843405, PMID:18648327, PMID:19400947, PMID:19656802, PMID:25741868, PMID:28492532 NCBI chrNW_004936572:6,322,725...6,331,844 JBrowse link
hydrolethalus syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hyls1 HYLS1 centriolar and ciliogenesis associated ISO OMIM NCBI chrNW_004936572:6,324,481...6,337,121 JBrowse link
G Kif7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936483:15,430,735...15,450,872 JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Hydrolethalus syndrome 1 ClinVar PMID:15843405, PMID:18648327, PMID:19400947, PMID:19656802, PMID:25741868, PMID:28492532 NCBI chrNW_004936572:6,322,725...6,331,844 JBrowse link
hydrolethalus syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif7 kinesin family member 7 ISO OMIM NCBI chrNW_004936483:15,430,735...15,450,872 JBrowse link
hypomyelinating leukodystrophy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO OMIM NCBI chrNW_004936526:2,721,579...2,726,699 JBrowse link
hypomyelinating leukodystrophy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1c RNA polymerase I and III subunit C ISO OMIM NCBI chrNW_004936476:16,483,203...16,487,360 JBrowse link
hypomyelinating leukodystrophy 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO OMIM NCBI chrNW_004936542:4,022,928...4,035,577 JBrowse link
hypomyelinating leukodystrophy 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hikeshi heat shock protein nuclear import factor hikeshi ISO OMIM NCBI chrNW_004936498:14,110,382...14,138,095 JBrowse link
hypomyelinating leukodystrophy 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ufm1 ubiquitin fold modifier 1 ISO OMIM NCBI chrNW_004937057:143,001...153,873 JBrowse link
Hypomyelinating Leukodystrophy 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO OMIM NCBI chrNW_004936650:2,145,614...2,219,812 JBrowse link
Hypomyelinating Leukodystrophy 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem106b transmembrane protein 106B ISO OMIM NCBI chrNW_004936761:1,663,099...1,689,580 JBrowse link
Hypomyelinating Leukodystrophy 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aimp2 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 ISO OMIM NCBI chrNW_004936750:430,780...439,247 JBrowse link
Hypomyelinating Leukodystrophy 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Degs1 delta 4-desaturase, sphingolipid 1 ISO OMIM NCBI chrNW_004936526:1,149,984...1,153,632 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 chrNW_004936526:2,653,556...2,690,427 JBrowse link
hypomyelinating leukodystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjc2 gap junction protein gamma 2 ISO OMIM NCBI chrNW_004936864:67,608...71,543 JBrowse link
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 2 ClinVar PMID:25356970 NCBI chrNW_004936619:2,377,284...2,402,049 JBrowse link
Hypomyelinating Leukodystrophy 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase ISO OMIM NCBI chrNW_004936490:16,834,570...16,841,734 JBrowse link
hypomyelinating leukodystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aimp1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 ISO OMIM NCBI chrNW_004936814:800,085...837,140 JBrowse link
hypomyelinating leukodystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO OMIM NCBI chrNW_004936506:1,678,069...1,687,632 JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 4 ClinVar PMID:29389947 NCBI chrNW_004936521:1,570,863...1,613,410 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 chrNW_004936726:460,556...489,550 JBrowse link
G Fam126a family with sequence similarity 126 member A ISO OMIM NCBI chrNW_004936478:139,710...213,083 JBrowse link
hypomyelinating leukodystrophy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb4a tubulin beta 4A class IVa ISO OMIM NCBI chrNW_004936588:3,821,171...3,826,827 JBrowse link
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7 ClinVar PMID:25741868 NCBI chrNW_004936480:17,051,902...17,416,335 JBrowse link
G Polr3a RNA polymerase III subunit A ISO OMIM NCBI chrNW_004936521:1,570,863...1,613,410 JBrowse link
G Polr3b RNA polymerase III subunit B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pol III-related leukodystrophy
CTD
ClinVar
PMID:22036172, PMID:23355746, PMID:25339210, PMID:25741868, PMID:26204956 NCBI chrNW_004936492:8,415,997...8,544,149 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 chrNW_004936521:1,562,013...1,568,280 JBrowse link
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH HYPODONTIA AND HYPOGONADOTROPIC HYPOGONADISM ClinVar PMID:14612911, PMID:15087378, PMID:17721994, PMID:18571837, PMID:21244692, PMID:23960188, PMID:24390236, PMID:25186627, PMID:25231023, PMID:25326637, PMID:25741868, PMID:26467025, PMID:26787654, PMID:27153395, PMID:27443514, PMID:27595995, PMID:27878467, PMID:28492532, PMID:28553140, PMID:28828701, PMID:29335925, PMID:30851065 NCBI chrNW_004936657:2,805,947...2,848,180 JBrowse link
G Polr3b RNA polymerase III subunit B ISO OMIM NCBI chrNW_004936492:8,415,997...8,544,149 JBrowse link
hypomyelinating leukodystrophy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rars1 arginyl-tRNA synthetase 1 ISO OMIM NCBI chrNW_004936622:884,324...917,964 JBrowse link
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pank2 pantothenate kinase 2 ISO OMIM NCBI chrNW_004936485:14,785,050...14,804,258 JBrowse link
Karak Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Karak syndrome ClinVar PMID:16783378 NCBI chrNW_004936492:3,011,752...3,060,962 JBrowse link
leukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor mitochondria associated 1 ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:30311386 NCBI chrNW_004936479:1,441,508...1,477,133 JBrowse link
G Alms1 ALMS1 centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:24462884, PMID:26104972, PMID:28492532, PMID:32581362 NCBI chrNW_004936491:17,152,759...17,342,648 JBrowse link
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:1671769, PMID:1684088, PMID:7866401, PMID:8723680, PMID:9096767, PMID:9600244, PMID:10381328, PMID:12081727, PMID:12809637, PMID:14517960, PMID:15952986, PMID:18693274, PMID:20339381, PMID:23581857, PMID:23701968, PMID:24001781, PMID:25741868, PMID:26462614, PMID:26890752, PMID:28492532, PMID:30311386 NCBI chrNW_004936629:187,281...205,493 JBrowse link
G Degs1 delta 4-desaturase, sphingolipid 1 ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868, PMID:30620337, PMID:31186544 NCBI chrNW_004936526:1,149,984...1,153,632 JBrowse link
G Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868 NCBI chrNW_004936578:5,716,333...5,724,869 JBrowse link
G Galc galactosylceramidase ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:8940268, PMID:9338580, PMID:16607461, PMID:20410102, PMID:20886637, PMID:22520351, PMID:25741868, PMID:26108647, PMID:27442402, PMID:27638593, PMID:28492532, PMID:29286531, PMID:30311386 NCBI chrNW_004936488:15,444,184...15,519,395 JBrowse link
G Kars1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868 NCBI chrNW_004936475:24,294,699...24,312,051 JBrowse link
G Men1 menin 1 ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:12652570, PMID:23321498, PMID:25741868, PMID:28492532 NCBI chrNW_004936599:4,504,489...4,510,085 JBrowse link
G Mlc1 modulator of VRAC current 1 ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:11254442, PMID:11935341, PMID:30311386 NCBI chrNW_004936629:696,592...719,363 JBrowse link
G Psen1 presenilin 1 ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868, PMID:30311386, PMID:31153663 NCBI chrNW_004936488:2,464,623...2,528,807 JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:30311386 NCBI chrNW_004936479:1,425,765...1,437,338 JBrowse link
G Sptbn2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:30311386 NCBI chrNW_004936599:2,890,404...2,928,502 JBrowse link
G Tmem63a transmembrane protein 63A ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868, PMID:31587869 NCBI chrNW_004936526:2,653,556...2,690,427 JBrowse link
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dll3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by term: Leukodystrophy and acquired microcephaly with or without dystonia ClinVar PMID:25741868 NCBI chrNW_004936661:2,322,531...2,330,150 JBrowse link
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 ISO OMIM NCBI chrNW_004936661:2,257,097...2,268,301 JBrowse link
leukoencephalopathy with vanishing white matter term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter ClinVar PMID:25741868 NCBI chrNW_004936513:10,488,525...10,598,366 JBrowse link
G Eif2b1 eukaryotic translation initiation factor 2B subunit alpha ISO OMIM NCBI chrNW_004936558:1,196,111...1,205,321 JBrowse link
G Eif2b2 eukaryotic translation initiation factor 2B subunit beta ISO OMIM NCBI chrNW_004936488:4,150,504...4,156,483 JBrowse link
G Eif2b3 eukaryotic translation initiation factor 2B subunit gamma ISO OMIM NCBI chrNW_004936474:26,075,503...26,187,459 JBrowse link
G Eif2b4 eukaryotic translation initiation factor 2B subunit delta ISO OMIM NCBI chrNW_004936493:5,213,036...5,217,670 JBrowse link
G Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon ISO OMIM NCBI chrNW_004936578:5,716,333...5,724,869 JBrowse link
G Mlh3 mutL homolog 3 ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter ClinVar PMID:25741868 NCBI chrNW_004936488:4,164,322...4,195,408 JBrowse link
Meckel syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp3 nephrocystin 3 ISO OMIM NCBI chrNW_004936529:6,013,321...6,048,249 JBrowse link
megalencephalic leukoencephalopathy with subcortical cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hepacam hepatic and glial cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts
CTD
ClinVar
PMID:21419380, PMID:25741868, PMID:28492532 NCBI chrNW_004936743:1,353,340...1,366,724 JBrowse link
G Mlc1 modulator of VRAC current 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts
CTD
ClinVar
PMID:11254442, PMID:25741868 NCBI chrNW_004936629:696,592...719,363 JBrowse link
megalencephalic leukoencephalopathy with subcortical cysts 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hepacam hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 ClinVar PMID:25741868, PMID:29389947 NCBI chrNW_004936743:1,353,340...1,366,724 JBrowse link
G Mlc1 modulator of VRAC current 1 ISO OMIM NCBI chrNW_004936629:696,592...719,363 JBrowse link
megalencephalic leukoencephalopathy with subcortical cysts 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hepacam hepatic and glial cell adhesion molecule ISO OMIM NCBI chrNW_004936743:1,353,340...1,366,724 JBrowse link
megalencephalic leukoencephalopathy with subcortical cysts 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hepacam hepatic and glial cell adhesion molecule ISO OMIM NCBI chrNW_004936743:1,353,340...1,366,724 JBrowse link
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt3 AKT serine/threonine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22729224 NCBI chrNW_004936526:6,944,056...7,201,226 JBrowse link
G Ccnd2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24705253, PMID:29642246 NCBI chrNW_004936606:4,474,801...4,496,158 JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22729224 NCBI chrNW_004936566:3,924,013...3,951,052 JBrowse link
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME
CTD
ClinVar
PMID:16357568, PMID:21984976, PMID:22729224, PMID:22989095, PMID:23449172, PMID:23592320, PMID:23606607, PMID:23619167, PMID:23745724, PMID:24497998, PMID:25741868, PMID:26520804, PMID:26860062, PMID:27854409, PMID:28086757, PMID:28492532, PMID:28502725, PMID:30311386 NCBI chrNW_004936596:3,010,526...3,021,848 JBrowse link
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 ISO OMIM NCBI chrNW_004936596:3,010,526...3,021,848 JBrowse link
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt3 AKT serine/threonine kinase 3 ISO OMIM NCBI chrNW_004936526:6,944,056...7,201,226 JBrowse link
G Cep170 centrosomal protein 170 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chrNW_004936526:7,431,470...7,549,979 JBrowse link
G CUNH1orf100 chromosome unknown C1orf100 homolog ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chrNW_004936526:6,388,687...6,410,589 JBrowse link
G Pld5 phospholipase D family member 5 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chrNW_004936526:8,055,190...8,447,854 JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chrNW_004936526:7,202,147...7,431,455 JBrowse link
G Zbtb18 zinc finger and BTB domain containing 18 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chrNW_004936526:6,706,035...6,714,011 JBrowse link
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnd2 cyclin D2 ISO OMIM NCBI chrNW_004936606:4,474,801...4,496,158 JBrowse link
neuroaxonal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ireb2 iron responsive element binding protein 2 ISO protein:increased expression:brain (mouse) RGD PMID:26506412 RGD:11344088 NCBI chrNW_004936471:36,547,552...36,601,327 JBrowse link
G Naga alpha-N-acetylgalactosaminidase ISO Schindler disease, OMIM:609241, DNA:point mutation:exon:E325K
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:2243144 RGD:1600557 NCBI chrNW_004936718:31,946...55,822 JBrowse link
G Pla2g6 phospholipase A2 group VI ISO DNA:deletion:cds:p.V691del (human)
DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple
DNA:insertion:intron (mouse)
DNA:point mutation:cds
RGD PMID:17033970, PMID:18305254, PMID:19138334, PMID:19893029, PMID:22442204 RGD:6482732, RGD:6482735, RGD:6482736, RGD:6482739, RGD:6482740 NCBI chrNW_004936492:3,011,752...3,060,962 JBrowse link
G Tecpr2 tectonin beta-propeller repeat containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26555167 NCBI chrNW_004936835:525,198...604,685 JBrowse link
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO DNA:deletion RGD PMID:11555633 RGD:1302546 NCBI chrNW_004936482:8,551,749...8,563,586 JBrowse link
G Uchl3 ubiquitin C-terminal hydrolase L3 ISO RGD PMID:11555633 RGD:1302546 NCBI chrNW_004936511:5,524,425...5,581,156 JBrowse link
neurodegeneration with brain iron accumulation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars2 alanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Iron accumulation in brain ClinVar PMID:32581362 NCBI chrNW_004936476:15,772,203...15,784,316 JBrowse link
G Crat carnitine O-acetyltransferase ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:25741868, PMID:29395073 NCBI chrNW_004936487:16,523,571...16,537,242 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 chrNW_004936485:14,785,050...14,804,258 JBrowse link
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Iron accumulation in brain
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
ClinVar PMID:10227637, PMID:12843330, PMID:16783378, PMID:17033970, PMID:18359254, PMID:18414213, PMID:18443314, PMID:18570303, PMID:18799783, PMID:19138334, PMID:19893029, PMID:20301718, PMID:20584031, PMID:20619503, PMID:20886109, PMID:20938027, PMID:20947703, PMID:22934738, PMID:24033266, PMID:24108619, PMID:24130795, PMID:24745848, PMID:24800972, PMID:24847269, PMID:25164370, PMID:25326635, PMID:25326637, PMID:25558065, PMID:25741868, PMID:26668131, PMID:27196560, PMID:27378808, PMID:28492532, PMID:29472584, PMID:29915382, PMID:30340910, PMID:30619057 NCBI chrNW_004936492:3,011,752...3,060,962 JBrowse link
G Reps1 RALBP1 associated Eps domain containing 1 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:29395073 NCBI chrNW_004936560:5,981,037...6,057,059 JBrowse link
G Wdr45 WD repeat domain 45 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
CTD
ClinVar
PMID:23176820, PMID:23435086, PMID:24368176, PMID:24621584, PMID:25741868, PMID:25744623, PMID:28492532, PMID:28711740 NCBI chrNW_004936721:975,113...981,149 JBrowse link
neurodegeneration with brain iron accumulation 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pla2g6 phospholipase A2 group VI ISO OMIM NCBI chrNW_004936492:3,011,752...3,060,962 JBrowse link
neurodegeneration with brain iron accumulation 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pla2g6 phospholipase A2 group VI ISO OMIM NCBI chrNW_004936492:3,011,752...3,060,962 JBrowse link
neurodegeneration with brain iron accumulation 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ftl ferritin light chain ISO OMIM NCBI chrNW_004936664:2,976,325...2,977,878 JBrowse link
G Gys1 glycogen synthase 1 ISO ClinVar Annotator: match by term: Neuroferritinopathy ClinVar PMID:17182944, PMID:18414213, PMID:25741868, PMID:28492532 NCBI chrNW_004936664:2,978,546...2,995,145 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 CUNH19orf12 chromosome unknown C19orf12 homolog ISO OMIM NCBI chrNW_004936570:5,628,593...5,640,982 JBrowse link
neurodegeneration with brain iron accumulation 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otud5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar NCBI chrNW_004936721:847,360...876,912 JBrowse link
G Wdr45 WD repeat domain 45 ISO OMIM NCBI chrNW_004936721:975,113...981,149 JBrowse link
neurodegeneration with brain iron accumulation 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coasy Coenzyme A synthase ISO OMIM NCBI chrNW_004936490:17,318,873...17,323,080 JBrowse link
Neurodegeneration with Brain Iron Accumulation 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Reps1 RALBP1 associated Eps domain containing 1 ISO OMIM NCBI chrNW_004936560:5,981,037...6,057,059 JBrowse link
Neurodegeneration with Brain Iron Accumulation 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crat carnitine O-acetyltransferase ISO OMIM NCBI chrNW_004936487:16,523,571...16,537,242 JBrowse link
normal pressure hydrocephalus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap43 cilia and flagella associated protein 43 ISO OMIM NCBI chrNW_004936600:1,954,987...2,042,834 JBrowse link
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Normal pressure hydrocephalus ClinVar PMID:10528257, PMID:25808372 NCBI chrNW_004936669:1,385,010...1,395,715 JBrowse link
pantothenate kinase-associated neurodegeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pank2 pantothenate kinase 2 ISO OMIM NCBI chrNW_004936485:14,785,050...14,804,258 JBrowse link
G Snca synuclein alpha ISO RGD PMID:10934140 RGD:6480098 NCBI chrNW_004936685:2,077,017...2,175,298 JBrowse link
G Sncb synuclein beta ISO RGD PMID:10934140 RGD:6480098 NCBI chrNW_004936597:878,270...888,346 JBrowse link
G Sncg synuclein gamma ISO RGD PMID:10934140 RGD:6480098 NCBI chrNW_004936804:16,869...21,684 JBrowse link
Pelizaeus-Merzbacher disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjc2 gap junction protein gamma 2 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:23143715, PMID:25741868, PMID:31319225 NCBI chrNW_004936864:67,608...71,543 JBrowse link
G Lmnb1 lamin B1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936504:157,459...211,916 JBrowse link
G Plp1 proteolipid protein 1 ISO OMIM NCBI chrNW_004936499:10,534,953...10,553,411 JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, connatal
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, atypical
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, mild
ClinVar PMID:1376966, PMID:1384324, PMID:1605230, PMID:1707231, PMID:1715570, PMID:2479017, PMID:2480601, PMID:2773936, PMID:3827224, PMID:7573159, PMID:7574457, PMID:7683951, PMID:8696336, PMID:8723686, PMID:8786077, PMID:9056547, PMID:9482656, PMID:11071483, PMID:12910435, PMID:19396823, PMID:20301361, PMID:24088041, PMID:25326635, PMID:25491635, PMID:25741868, PMID:26125040, PMID:26467025, PMID:26633545, PMID:27535533, PMID:28492532, PMID:29451896 NCBI chrNW_004936499:10,501,837...10,506,793 JBrowse link
peroxisomal acyl-CoA oxidase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox1 acyl-CoA oxidase 1 ISO OMIM NCBI chrNW_004936594:1,115,607...1,140,085 JBrowse link
G Ten1 TEN1 subunit of CST complex ISO ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy ClinVar NCBI chrNW_004936594:1,139,926...1,159,611 JBrowse link
peroxisome biogenesis disorder 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex5 peroxisomal biogenesis factor 5 ISO OMIM NCBI chrNW_004936709:587,296...606,085 JBrowse link
Posthemorrhagic Hydrocephalus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcan brevican treatment ISO RGD PMID:22186713 RGD:6483013 NCBI chrNW_004936580:5,816,196...5,828,531 JBrowse link
G L1cam L1 cell adhesion molecule ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:22186713 RGD:6483013 NCBI chrNW_004936809:736,385...768,822 JBrowse link
Progressive Leukodystrophy, Early Childhood-Onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acer3 alkaline ceramidase 3 ISO OMIM NCBI chrNW_004936498:5,496,991...5,653,206 JBrowse link
Recurrent Metabolic Encephalomyopathic Crises with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tango2 transport and golgi organization 2 homolog ISO OMIM NCBI chrNW_004936619:3,934,791...3,973,695 JBrowse link
Renal-Hepatic-Pancreatic Dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp3 nephrocystin 3 ISO OMIM NCBI chrNW_004936529:6,013,321...6,048,249 JBrowse link
RETINAL DYSTROPHY WITH LEUKODYSTROPHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acbd5 acyl-CoA binding domain containing 5 ISO OMIM NCBI chrNW_004936484:2,224,308...2,268,302 JBrowse link
Ritscher-Schinzel syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc22 coiled-coil domain containing 22 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936721:1,107,697...1,118,313 JBrowse link
G Washc5 WASH complex subunit 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936470:22,667,354...22,725,538 JBrowse link
Ritscher-Schinzel syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 ClinVar PMID:19377476, PMID:21826058, PMID:24916641 NCBI chrNW_004936721:1,107,697...1,118,313 JBrowse link
G Dpysl5 dihydropyrimidinase like 5 ISO ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 ClinVar PMID:31474318 NCBI chrNW_004936493:5,603,069...5,686,451 JBrowse link
G Washc5 WASH complex subunit 5 ISO OMIM NCBI chrNW_004936470:22,667,354...22,725,538 JBrowse link
Ritscher-Schinzel syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc22 coiled-coil domain containing 22 ISO OMIM NCBI chrNW_004936721:1,107,697...1,118,313 JBrowse link
Schindler Disease, Type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naga alpha-N-acetylgalactosaminidase ISO OMIM NCBI chrNW_004936718:31,946...55,822 JBrowse link
G Wbp2nl WBP2 N-terminal like ISO ClinVar Annotator: match by term: Schindler disease, type 1
ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 1
ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 2
ClinVar NCBI chrNW_004936492:10,208...13,477 JBrowse link
syndromic X-linked intellectual disability 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1s2 adaptor related protein complex 1 subunit sigma 2 ISO OMIM NCBI chrNW_004936470:5,260,984...5,301,552 JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: Pettigrew syndrome ClinVar PMID:25741868 NCBI chrNW_004936479:9,490,717...9,535,998 JBrowse link
ventriculomegaly - cystic kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crb2 crumbs cell polarity complex component 2 ISO OMIM NCBI chrNW_004936487:11,793,078...11,813,803 JBrowse link
X-Linked Hydrocephalus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G L1cam L1 cell adhesion molecule ISO OMIM NCBI chrNW_004936809:736,385...768,822 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 chrNW_004936809:736,385...768,822 JBrowse link
X-linked VACTERL association term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Baz1a bromodomain adjacent to zinc finger domain 1A ISO ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations ClinVar NCBI chrNW_004936494:8,968,704...9,080,620 JBrowse link
G Fancb FA complementation group B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL-H
ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked
CTD
ClinVar
PMID:24033266, PMID:25741868, PMID:28492532 NCBI chrNW_004936470:4,305,220...4,323,456 JBrowse link
G Fancl FA complementation group L ISO ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked ClinVar PMID:25754594 NCBI chrNW_004936491:4,057,312...4,119,966 JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL-H
ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly
CTD
ClinVar
PMID:9399897, PMID:9467011, PMID:10232405, PMID:10353779, PMID:10400993, PMID:10468583, PMID:10749983, PMID:10848731, PMID:11238682, PMID:11685670, PMID:11748304, PMID:12844284, PMID:14518070, PMID:15805158, PMID:17286265, PMID:17392703, PMID:17427195, PMID:17942903, PMID:19265751, PMID:19668082, PMID:21194675, PMID:21828076, PMID:21956414, PMID:22252256, PMID:22381246, PMID:23442912, PMID:23470840, PMID:23475934, PMID:23695273, PMID:24033266, PMID:24052722, PMID:24136893, PMID:24778394, PMID:25022750, PMID:25132236, PMID:25157968, PMID:25326635, PMID:25669429, PMID:25741868, PMID:25756585, PMID:27477328, PMID:27535533, PMID:28492532, PMID:28526761, PMID:30287823, PMID:32238909 NCBI chrNW_004936735:1,252,414...1,338,318 JBrowse link
G Sall1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: VACTERL-H ClinVar PMID:25741868 NCBI chrNW_004936475:4,106,663...4,121,356 JBrowse link
G Zic3 Zic family member 3 ISO OMIM NCBI chrNW_004936513:9,780,895...9,792,865 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11962
    disease of anatomical entity 11526
      nervous system disease 9457
        central nervous system disease 8005
          brain disease 7410
            cerebral degeneration 239
              Alpers-Huttenlocher syndrome + 5
              cerebral lipidosis 0
              hydrocephalus + 88
              leukodystrophy + 117
              neuroaxonal dystrophy + 29
              senile degeneration of brain 0
paths to the root

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