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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
 xref: GARD:6019;   ICD9CM:331.9
For additional species annotation, visit the Alliance of Genome Resources.



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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:143,275,165...143,295,283
Ensembl chr  X:153,162,412...153,182,424
JBrowse link
G ACSBG1 acyl-CoA synthetase bubblegum family member 1 ISO RGD PMID:15800013 RGD:11065111 NCBI chr15:57,098,752...57,164,119
Ensembl chr15:76,064,937...76,128,835
JBrowse link
G ARHGAP4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:143,462,157...143,481,496
Ensembl chr  X:153,349,050...153,367,709
JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:143,870,421...143,878,288
Ensembl chr  X:153,740,751...153,748,621
JBrowse link
G AVPR2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:143,458,693...143,461,945
Ensembl chr  X:153,346,466...153,348,840
JBrowse link
G BCAP31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:143,265,920...143,274,956 JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:144,243,493...144,257,419
Ensembl chr  X:154,084,412...154,098,475
JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:143,842,920...143,851,795
Ensembl chr  X:153,712,054...153,725,868
JBrowse link
G EMD emerin ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:143,792,178...143,794,530 JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:144,316,192...144,505,773
Ensembl chr  X:154,156,873...154,341,317
JBrowse link
G FAM3A FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:143,947,867...143,957,966
Ensembl chr  X:153,817,983...153,828,152
JBrowse link
G FAM50A family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:143,885,931...143,892,435 JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:143,799,088...143,825,282 JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:143,972,798...143,988,960
Ensembl chr  X:153,843,092...153,860,674
JBrowse link
G GAB3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:144,150,062...144,232,216
Ensembl chr  X:153,993,736...154,038,529
JBrowse link
G GDI1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:143,878,690...143,885,251
Ensembl chr  X:153,749,661...153,755,877
JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:143,502,159...143,526,418
Ensembl chr  X:153,389,859...153,412,999
JBrowse link
G HMOX1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063
JBrowse link
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:143,336,460...143,345,274
Ensembl chr  X:153,222,309...153,231,135
JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
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:143,988,720...144,010,078
Ensembl chr  X:153,854,493...153,876,092
JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:143,560,802...143,570,185
Ensembl chr  X:153,446,827...153,460,602
JBrowse link
G L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:143,412,303...143,437,090
Ensembl chr  X:153,298,690...153,324,228
JBrowse link
G LAGE3 L antigen family member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:143,919,519...143,921,001
Ensembl chr  X:153,790,672...153,792,549
JBrowse link
G LOC100975352 sodium- and chloride-dependent creatine transporter 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 Ensembl chr  X:153,126,415...153,133,189 JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:143,571,864...143,647,192
Ensembl chr  X:153,465,204...153,527,854
JBrowse link
G MMP10 matrix metallopeptidase 10 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr11:97,710,819...97,721,263
Ensembl chr11:101,201,665...101,212,103
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G MPP1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:144,258,416...144,285,658
Ensembl chr  X:154,099,463...154,126,575
JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:143,484,008...143,489,904 JBrowse link
G PDZD4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:143,352,944...143,381,428
Ensembl chr  X:153,240,182...153,267,874
JBrowse link
G PEX13 peroxisomal biogenesis factor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10441568 NCBI chr2A:61,108,970...61,143,615
Ensembl chr2A:62,250,887...62,285,151
JBrowse link
G PEX26 peroxisomal biogenesis factor 26 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12851857 NCBI chr22:1,507,601...1,535,859
Ensembl chr22:16,936,405...16,989,730
JBrowse link
G PLXNA3 plexin A3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:143,900,029...143,915,391
Ensembl chr  X:153,772,700...153,786,167
JBrowse link
G PLXNB3 plexin B3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:143,314,794...143,330,066
Ensembl chr  X:153,200,971...153,215,909
JBrowse link
G RENBP renin binding protein ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:143,490,103...143,499,487
Ensembl chr  X:153,376,847...153,386,214
JBrowse link
G RPL10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:143,839,739...143,844,026 JBrowse link
G SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:143,929,086...143,932,406
Ensembl chr  X:153,800,354...153,803,653
JBrowse link
G SMIM9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:144,303,611...144,311,226
Ensembl chr  X:154,144,752...154,151,903
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
JBrowse link
G SRPK3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:143,331,213...143,336,426
Ensembl chr  X:153,216,794...153,222,273
JBrowse link
G SSR4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:143,344,286...143,349,272
Ensembl chr  X:153,230,137...153,235,124
JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:143,853,054...143,863,491
Ensembl chr  X:153,725,294...153,734,046
JBrowse link
G TEX28 testis expressed 28 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:143,711,495...143,736,128 JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr  X:40,018,190...40,022,636
Ensembl chr  X:47,914,906...47,919,419
JBrowse link
G TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:143,736,589...143,772,277 JBrowse link
G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:143,527,152...143,533,708
Ensembl chr  X:153,419,802...153,420,587
JBrowse link
G UBL4A ubiquitin like 4A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:143,925,494...143,928,444 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 5:122,179,513...122,240,848
Ensembl chr 5:127,949,457...128,010,721
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 AARS1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Hereditary diffuse leukoencephalopathy with spheroids ClinVar PMID:31775912 NCBI chr16:54,727,601...54,763,458
Ensembl chr16:70,086,735...70,121,902
JBrowse link
G CSF1R colony stimulating factor 1 receptor ISO OMIM NCBI chr 5:145,478,725...145,537,858
Ensembl chr 5:151,483,572...151,517,415
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 chr17:12,407,211...12,417,072
Ensembl chr17:12,579,754...12,591,961
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 chr18:20,108,607...20,122,381
Ensembl chr18:23,713,146...23,726,919
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 More... NCBI chr2A:95,132,396...95,172,218
Ensembl chr2A:110,146,499...110,234,398
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 More... NCBI chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271
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 chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
JBrowse link
G RLBP1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:2392416 PMID:11301032 PMID:18546365 PMID:21447491 PMID:23430898 More... NCBI chr15:67,901,276...67,913,911
Ensembl chr15:87,108,815...87,117,971
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 chr10:119,030,409...119,083,682
Ensembl chr10:122,441,098...122,494,733
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:10371548 PMID:11102981 PMID:15229130 PMID:15834039 PMID:24840674 More... NCBI chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080
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 chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080
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 chr10:119,030,409...119,083,682
Ensembl chr10:122,441,098...122,494,733
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 chr17:3,492,304...3,517,882
Ensembl chr17:3,522,858...3,546,279
JBrowse link
G CSPG4 chondroitin sulfate proteoglycan 4 ISO RGD PMID:19739253 RGD:5686858 NCBI chr15:54,583,010...54,621,240
Ensembl chr15:74,177,909...74,200,498
JBrowse link
G CTNS cystinosin, lysosomal cystine transporter ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:9537412 PMID:10909858 PMID:27102039 PMID:28492532 NCBI chr17:3,686,903...3,711,857
Ensembl chr17:3,683,575...3,708,253
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 chr17:3,719,010...3,719,950
Ensembl chr17:3,715,811...3,716,143
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO protein:decreased expression:cerebellum, brain stem RGD PMID:15016427 RGD:6484588 NCBI chr10:83,498,338...83,540,730 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 chr17:3,772,899...3,775,903
Ensembl chr17:3,767,404...3,769,800
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 chr17:3,763,813...3,851,645
Ensembl chr17:3,758,730...3,844,444
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 chr17:3,722,117...3,745,833 JBrowse link
G SHPK sedoheptulokinase ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:9537412 PMID:10909858 PMID:27102039 PMID:28492532 NCBI chr17:3,657,764...3,686,791 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 More... NCBI chr17:3,120,296...3,532,343
Ensembl chr17:3,489,143...3,560,654
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 chr17:3,713,211...3,718,959
Ensembl chr17:3,709,600...3,715,342
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:9537412 PMID:10909858 PMID:27102039 PMID:28492532 NCBI chr17:3,612,781...3,658,608
Ensembl chr17:3,609,952...3,637,579
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:9537412 PMID:10909858 PMID:27102039 PMID:28492532 NCBI chr17:3,528,734...3,577,162
Ensembl chr17:3,516,209...3,603,787
JBrowse link
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARMS2 age-related maculopathy susceptibility 2 ISO ClinVar Annotator: match by term: CARASIL syndrome ClinVar PMID:18316707 PMID:26467025 PMID:28492532 NCBI chr10:119,022,726...119,026,201
Ensembl chr10:122,434,856...122,437,551
JBrowse link
G HTRA1 HtrA serine peptidase 1 ISO OMIM NCBI chr10:119,030,409...119,083,682
Ensembl chr10:122,441,098...122,494,733
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 chr11:67,186,653...67,193,102
Ensembl chr11:70,411,031...70,416,484
JBrowse link
G DHCR7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr11:66,450,230...66,464,214
Ensembl chr11:69,721,741...69,735,715
JBrowse link
G FAM86C1P family with sequence similarity 86 member C1 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 7:7,650,245...7,656,291
Ensembl chr11:70,117,405...70,126,455
JBrowse link
G FOLR1 folate receptor alpha ISO OMIM NCBI chr11:67,268,721...67,275,498
Ensembl chr11:70,492,039...70,498,665
JBrowse link
G FOLR3 folate receptor gamma ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr11:67,215,877...67,220,088
Ensembl chr11:70,439,298...70,443,479
JBrowse link
G IL18BP interleukin 18 binding protein ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr11:67,078,251...67,083,043
Ensembl chr11:70,302,923...70,307,511
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 chr11:67,177,580...67,183,631
Ensembl chr11:70,390,141...70,407,246
JBrowse link
G LOC100967430 leucine-rich repeat-containing protein 51 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr11:67,160,599...67,189,746 JBrowse link
G LOC100977985 keratin-associated protein 5-11 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr11:66,597,414...66,600,160 JBrowse link
G LOC112438728 beta-defensin 108B ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 8:11,587,671...11,592,312 JBrowse link
G NADSYN1 NAD synthetase 1 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr11:66,464,320...66,537,649
Ensembl chr11:69,735,871...69,788,953
JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr11:67,083,378...67,160,747
Ensembl chr11:70,307,847...70,384,425
JBrowse link
G RNF121 ring finger protein 121 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr11:67,009,574...67,078,105
Ensembl chr11:70,233,723...70,302,576
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:41,099,539...41,122,650
Ensembl chr  X:48,960,430...48,982,642
JBrowse link
Clark-Baraitser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRIP12 thyroid hormone receptor interactor 12 ISO OMIM NCBI chr2B:117,013,343...117,175,296
Ensembl chr2B:235,820,182...235,979,780
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 chr17:76,248,252...76,266,152
Ensembl chr17:81,950,422...81,968,109
JBrowse link
G SEC24D SEC24 homolog D, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:110,916,508...111,033,298
Ensembl chr 4:121,468,914...121,582,156
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 chr17:76,248,252...76,266,152
Ensembl chr17:81,950,422...81,968,109
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 4:110,916,508...111,033,298
Ensembl chr 4:121,468,914...121,582,156
JBrowse link
communicating hydrocephalus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM67 transmembrane protein 67 ISO RGD PMID:30705305 RGD:14995942 NCBI chr 8:90,378,623...90,442,904
Ensembl chr 8:92,324,402...92,387,437
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 chr 3:32,745,217...32,824,985
Ensembl chr 3:33,050,997...33,123,910
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 More... NCBI chr 1:74,939,477...74,978,815
Ensembl chr 1:76,911,763...76,950,840
JBrowse link
G MPDZ multiple PDZ domain crumbs cell polarity complex component ISO OMIM NCBI chr 9:12,943,252...13,120,126
Ensembl chr 9:13,391,903...13,535,292
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 chr17:1,708,119...1,722,405
Ensembl chr17:1,594,162...1,616,138
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 More... NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
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 chr2B:118,454,310...118,644,303
Ensembl chr2B:237,243,120...237,412,620
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 More... NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
JBrowse link
G CHN1 chimerin 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr2B:62,074,405...62,283,013 JBrowse link
G DPH1 diphthamide biosynthesis 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25558065 PMID:30877278 NCBI chr17:2,020,163...2,035,044
Ensembl chr17:1,908,248...1,923,094
JBrowse link
G DPYSL5 dihydropyrimidinase like 5 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:3812597 PMID:31474318 PMID:33894126 NCBI chr2A:26,847,309...26,949,737
Ensembl chr2A:26,987,649...27,035,748
JBrowse link
G FOXC1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19668217 NCBI chr 6:1,429,051...1,433,180 JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chr11:120,703,436...120,716,415 JBrowse link
G INTS1 integrator complex subunit 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar NCBI chr 7:1,719,254...1,753,150
Ensembl chr 7:1,838,302...1,871,554
JBrowse link
G KIAA1109 KIAA1109 ortholog ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25558065 NCBI chr 4:114,346,807...114,558,993
Ensembl chr 4:125,482,532...125,694,099
JBrowse link
G KIF1A kinesin family member 1A ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr2B:127,969,494...128,078,282
Ensembl chr2B:246,778,679...246,860,326
JBrowse link
G KMT2D lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661
JBrowse link
G MAGED2 MAGE family member D2 ISO ClinVar Annotator: match by term: Dandy-Walker cyst ClinVar NCBI chr  X:47,010,009...47,018,370
Ensembl chr  X:55,241,161...55,249,256
JBrowse link
G MID1 midline 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:15121778 PMID:15558842 PMID:25741868 NCBI chr  X:3,075,834...3,463,845
Ensembl chr  X:10,328,476...10,459,284
JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:12181311 PMID:25292412 PMID:28334876 PMID:28639748 PMID:31474318 NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530
JBrowse link
G PIBF1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 PMID:26167768 PMID:30858804 PMID:31474318 NCBI chr13:54,011,239...54,247,952
Ensembl chr13:72,788,608...73,022,473
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 More... NCBI chr2A:28,758,176...28,809,561
Ensembl chr2A:28,862,083...28,889,401
JBrowse link
G PUS3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chr11:120,709,264...120,718,773
Ensembl chr11:124,622,279...124,629,508
JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chr 3:46,916,615...47,064,046
Ensembl chr 3:48,018,517...48,163,999
JBrowse link
G TMEM47 transmembrane protein 47 ISO ClinVar Annotator: match by term: Dandy-Walker cyst ClinVar NCBI chr  X:27,277,397...27,307,540
Ensembl chr  X:34,810,272...34,836,876
JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 Ensembl chr 4:6,345,864...6,379,287 JBrowse link
G ZIC1 Zic family member 1 ISO RGD PMID:15338008 RGD:1599905 NCBI chr 3:144,437,075...144,443,516
Ensembl chr 3:152,019,013...152,024,502
JBrowse link
hydrocephalus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP1 aquaporin 1 (Colton blood group) disease_progression ISO RGD PMID:21135737 RGD:5148011 NCBI chr 7:31,524,933...31,538,602
Ensembl chr 7:31,644,331...31,658,141
JBrowse link
G AQP4 aquaporin 4 disease_progression ISO RGD PMID:21135737 RGD:5148011 NCBI chr18:20,108,607...20,122,381
Ensembl chr18:23,713,146...23,726,919
JBrowse link
G ARID1B AT-rich interaction domain 1B ISO RGD PMID:28867767 RGD:13439722 NCBI chr 6:154,581,148...155,018,706 JBrowse link
G ARX aristaless related homeobox ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:25741868 NCBI chr  X:17,598,858...17,612,544 JBrowse link
G ASXL2 ASXL transcriptional regulator 2 ISO ClinVar Annotator: match by term: Severe hydrocephalus ClinVar PMID:25741868 NCBI chr2A:25,730,155...25,880,089
Ensembl chr2A:25,832,527...25,973,659
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 chr19:38,854,243...38,882,034 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 chr2B:128,832,458...128,847,918
Ensembl chr2B:247,626,494...247,640,238
JBrowse link
G CACNA1I calcium voltage-gated channel subunit alpha1 I ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:25741868 NCBI chr22:20,463,511...20,595,253
Ensembl chr22:38,296,436...38,414,963
JBrowse link
G CCDC39 coiled-coil domain containing 39 ISO RGD PMID:31771992 RGD:150521527 NCBI chr 3:177,640,127...177,705,885
Ensembl chr 3:185,813,245...185,878,362
JBrowse link
G CCDC85C coiled-coil domain containing 85C ISO RGD PMID:31341137 RGD:150520163 NCBI chr14:80,134,889...80,229,717 JBrowse link
G CCDC88C coiled-coil domain containing 88C ISO OMIM NCBI chr14:71,897,602...72,044,242
Ensembl chr14:91,244,434...91,393,715
JBrowse link
G CCND2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chr12:4,385,957...4,417,602
Ensembl chr12:4,309,272...4,335,551
JBrowse link
G CDK8 cyclin dependent kinase 8 ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:25741868 NCBI chr13:7,546,922...7,698,079
Ensembl chr13:25,895,705...26,046,120
JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22522421 NCBI chr 7:16,747,569...17,078,389
Ensembl chr 7:16,077,091...16,405,220
JBrowse link
G DNAH9 dynein axonemal heavy chain 9 ISO ClinVar Annotator: match by term: Hydrocephalus ClinVar PMID:25741868 NCBI chr17:39,673,338...40,047,090
Ensembl chr17:44,422,928...44,796,983
JBrowse link
G DOCK6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Hydrocephalus ClinVar NCBI chr19:10,747,850...10,811,483
Ensembl chr19:11,459,062...11,513,220
JBrowse link
G FOXC1 forkhead box C1 ISO RGD PMID:9635428 RGD:8662364 NCBI chr 6:1,429,051...1,433,180 JBrowse link
G GLDC glycine decarboxylase ISO RGD PMID:25736695 RGD:12904662 NCBI chr 9:6,347,381...6,456,042
Ensembl chr 9:6,527,242...6,635,779
JBrowse link
G HMGB1 high mobility group box 1 ISO RGD PMID:22116431 RGD:10402405 NCBI chr13:11,737,942...11,894,923
Ensembl chr13:30,174,899...30,179,527
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:15964663 RGD:1624238 NCBI chr2B:84,729,615...84,743,352
Ensembl chr2B:202,623,497...202,636,959
JBrowse link
G HYDIN HYDIN axonemal central pair apparatus protein ISO DNA:nonsense mutation:exon (mouse)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:12719380 PMID:19029900 RGD:634487 NCBI chr16:53,785,727...54,210,088
Ensembl chr16:70,661,924...71,063,631
JBrowse link
G ITGB1 integrin subunit beta 1 ISO RGD PMID:19726708 RGD:2325325 NCBI chr10:33,023,573...33,081,384
Ensembl chr10:33,608,978...33,644,031
JBrowse link
G KCNT1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Hydrocephalus ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:106,773,184...106,867,490
Ensembl chr 9:135,763,956...135,852,482
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:28492532 PMID:31680349 NCBI chr  X:143,412,303...143,437,090
Ensembl chr  X:153,298,690...153,324,228
JBrowse link
G LLGL1 LLGL scribble cell polarity complex component 1 ISO RGD PMID:15037549 RGD:1300301 NCBI chr17:32,770,511...32,789,756
Ensembl chr17:37,966,100...37,985,103
JBrowse link
G LOC100990238 intraflagellar transport protein 122 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:20493458 NCBI chr 3:126,498,018...126,578,211
Ensembl chr 3:133,851,433...133,930,117
JBrowse link
G MPDZ multiple PDZ domain crumbs cell polarity complex component ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:23240096 PMID:24033266 PMID:28492532 PMID:28556411 NCBI chr 9:12,943,252...13,120,126
Ensembl chr 9:13,391,903...13,535,292
JBrowse link
G NTF3 neurotrophin 3 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:11580868 RGD:1358755 NCBI chr12:5,551,734...5,615,981
Ensembl chr12:5,530,508...5,533,989
JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Hydrocephaly ClinVar PMID:25741868 NCBI chr 1:10,684,608...10,725,376
Ensembl chr 1:11,900,881...11,941,308
JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:12369018 PMID:16575835 PMID:17559086 PMID:18640039 PMID:18752264 More... NCBI chr 9:102,625,290...102,646,066
Ensembl chr 9:131,265,750...131,285,881
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 Ensembl chr22:45,218,364...45,302,970 JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:28492532 PMID:29983323 NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453
JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:31474318 NCBI chr 3:46,916,615...47,064,046
Ensembl chr 3:48,018,517...48,163,999
JBrowse link
G SIN3A SIN3 transcription regulator family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27399968 NCBI chr15:54,285,587...54,371,376
Ensembl chr15:73,881,500...73,966,506
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 chr 3:47,487,948...47,683,623
Ensembl chr 3:48,590,221...48,781,248
JBrowse link
G TMEM67 transmembrane protein 67 ISO RGD PMID:15052665 PMID:30705305 RGD:14995942 RGD:15014788 NCBI chr 8:90,378,623...90,442,904
Ensembl chr 8:92,324,402...92,387,437
JBrowse link
G TRAPPC12 trafficking protein particle complex subunit 12 ISO ClinVar Annotator: match by term: Severe hydrocephalus ClinVar NCBI chr2A:3,388,191...3,490,496
Ensembl chr2A:3,311,765...3,411,768
JBrowse link
G TRIM71 tripartite motif containing 71 ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:29983323 NCBI chr 3:32,745,217...32,824,985
Ensembl chr 3:33,050,997...33,123,910
JBrowse link
G TUBB tubulin beta class I ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:25741868 NCBI chr 6:30,465,367...30,470,451 JBrowse link
G TXN thioredoxin ISO CTD Direct Evidence: marker/mechanism CTD PMID:31310794 NCBI chr 9:81,399,056...81,411,607
Ensembl chr 9:109,565,557...109,578,311
JBrowse link
G WDR37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:25741868 PMID:31327508 PMID:31327510 PMID:31474318 NCBI chr10:1,093,957...1,172,209
Ensembl chr10:1,140,562...1,217,263
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 More... NCBI chr11:120,703,436...120,716,415 JBrowse link
G KIF7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21552264 NCBI chr15:68,312,064...68,349,864
Ensembl chr15:87,529,290...87,553,445
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 More... NCBI chr11:120,709,264...120,718,773
Ensembl chr11:124,622,279...124,629,508
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 chr11:120,703,436...120,716,415 JBrowse link
G KIF7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:68,312,064...68,349,864
Ensembl chr15:87,529,290...87,553,445
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 More... NCBI chr11:120,709,264...120,718,773
Ensembl chr11:124,622,279...124,629,508
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 chr15:68,312,064...68,349,864
Ensembl chr15:87,529,290...87,553,445
JBrowse link
hypomyelinating leukodystrophy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PYCR2 pyrroline-5-carboxylate reductase 2 ISO OMIM NCBI chr 1:201,381,270...201,385,703 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 6:43,101,771...43,121,460
Ensembl chr 6:44,395,787...44,412,257
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 chr11:113,905,989...113,920,163
Ensembl chr11:117,835,557...117,849,389
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 chr11:81,353,756...81,397,167
Ensembl chr11:84,961,298...85,004,740
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 chr13:19,571,114...19,584,259
Ensembl chr13:38,162,598...38,175,814
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 chr 1:195,537,319...195,618,257
Ensembl chr 1:200,575,259...200,656,197
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 7:12,905,192...12,931,170
Ensembl chr 7:12,250,010...12,270,693
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 7:7,418,406...7,433,020
Ensembl chr 7:6,203,329...6,221,202
JBrowse link
Hypomyelinating Leukodystrophy 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DEGS1 delta 4-desaturase, sphingolipid 1 ISO OMIM NCBI chr 1:199,651,712...199,661,848
Ensembl chr 1:204,659,389...204,668,901
JBrowse link
Hypomyelinating Leukodystrophy 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM63A transmembrane protein 63A ISO OMIM NCBI chr 1:201,306,608...201,344,627
Ensembl chr 1:206,307,554...206,343,458
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 1:203,551,556...203,561,702 JBrowse link
G SNAP29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 2 ClinVar PMID:25356970 NCBI chr22:3,082,622...3,115,325
Ensembl chr22:19,572,618...19,605,931
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 chr17:15,338,085...15,349,089
Ensembl chr17:15,560,056...15,568,916
JBrowse link
Hypomyelinating Leukodystrophy 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLR3K RNA polymerase III subunit K ISO OMIM Ensembl chr16:37,772...44,598 JBrowse link
Hypomyelinating Leukodystrophy 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLDN11 claudin 11 ISO OMIM NCBI chr 3:167,432,856...167,448,053
Ensembl chr 3:175,621,472...175,908,350
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 4:98,796,320...98,830,095
Ensembl chr 4:109,404,352...109,436,566
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 chr2B:84,729,615...84,743,352
Ensembl chr2B:202,623,497...202,636,959
JBrowse link
G POLR3A RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 4 ClinVar PMID:29389947 NCBI chr10:74,496,121...74,550,054 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 chr2B:88,440,199...88,479,277
Ensembl chr2B:206,595,776...206,641,775
JBrowse link
G FAM126A family with sequence similarity 126 member A ISO OMIM NCBI chr 7:23,639,552...23,710,910
Ensembl chr 7:23,251,468...23,298,201
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 chr19:5,521,425...5,529,958
Ensembl chr19:6,441,323...6,451,785
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 POLR3A RNA polymerase III subunit A ISO OMIM NCBI chr10:74,496,121...74,550,054 JBrowse link
G POLR3B RNA polymerase III subunit B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pol III-related leukodystrophy
ClinVar Annotator: match by term: POLR3-related leukodystrophy
CTD
ClinVar
PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 PMID:25339210 More... NCBI chr12:103,936,650...104,083,470
Ensembl chr12:107,330,306...107,477,279
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:22855961 PMID:25741868 PMID:27029625 NCBI chr10:74,554,301...74,561,240
Ensembl chr10:77,217,228...77,238,519
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 POLR3B RNA polymerase III subunit B ISO OMIM NCBI chr12:103,936,650...104,083,470
Ensembl chr12:107,330,306...107,477,279
JBrowse link
hypomyelinating leukodystrophy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RARS1 arginyl-tRNA synthetase 1 ISO OMIM NCBI chr 5:163,851,644...163,884,787
Ensembl chr 5:170,616,819...170,649,655
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 chr20:3,924,054...3,959,393
Ensembl chr20:3,723,211...3,757,748
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 PMID:19087156 PMID:20619503 PMID:20886109 PMID:27127721 More... NCBI chr22:18,998,060...19,094,507
Ensembl chr22:36,849,794...36,919,509
Ensembl chr22:36,849,794...36,919,509
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:25741868 NCBI chr  X:119,256,425...119,292,612
Ensembl chr  X:129,550,287...129,586,271
JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:17594715 PMID:24462884 PMID:26104972 PMID:28492532 PMID:32581362 NCBI chr2A:73,438,657...73,671,313
Ensembl chr2A:74,926,650...75,152,139
JBrowse link
G ARSA arylsulfatase A ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:1671769 PMID:7866401 PMID:8723680 PMID:10381328 PMID:14517960 More... NCBI chr22:30,868,812...30,871,970
Ensembl chr22:49,978,955...49,982,099
JBrowse link
G DEGS1 delta 4-desaturase, sphingolipid 1 ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868 PMID:30620337 PMID:31186544 NCBI chr 1:199,651,712...199,661,848
Ensembl chr 1:204,659,389...204,668,901
JBrowse link
G EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868 NCBI chr 3:181,170,806...181,180,923
Ensembl chr 3:189,652,554...189,665,528
JBrowse link
G GALC galactosylceramidase ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:8940268 PMID:9338580 PMID:22520351 PMID:25741868 PMID:27638593 More... NCBI chr14:68,545,070...68,605,730
Ensembl chr14:87,905,098...87,965,770
JBrowse link
G KARS1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868 PMID:33260297 NCBI chr16:56,196,867...56,216,909
Ensembl chr16:75,545,002...75,565,043
JBrowse link
G LSM7 LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar NCBI chr19:1,330,469...1,337,610
Ensembl chr19:2,302,280...2,313,255
JBrowse link
G MEN1 menin 1 ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:12652570 PMID:23321498 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr11:60,159,009...60,166,222
Ensembl chr11:63,499,962...63,507,164
JBrowse link
G RAB33A RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868 NCBI chr  X:119,298,428...119,311,625
Ensembl chr  X:129,591,222...129,605,214
JBrowse link
G TMEM63A transmembrane protein 63A ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868 PMID:31587869 NCBI chr 1:201,306,608...201,344,627
Ensembl chr 1:206,307,554...206,343,458
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 PMID:28492532 NCBI chr19:36,597,420...36,607,021 JBrowse link
G PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 ISO OMIM NCBI chr19:36,510,855...36,526,623
Ensembl chr19:45,058,562...45,071,940
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:125,794,158...125,909,809
Ensembl chr  X:136,058,879...136,176,110
JBrowse link
G EIF2B1 eukaryotic translation initiation factor 2B subunit alpha ISO OMIM NCBI chr12:121,206,380...121,218,749
Ensembl chr12:125,433,227...125,446,665
JBrowse link
G EIF2B2 eukaryotic translation initiation factor 2B subunit beta ISO OMIM NCBI chr14:55,554,516...55,561,201
Ensembl chr14:74,399,056...74,405,770
JBrowse link
G EIF2B3 eukaryotic translation initiation factor 2B subunit gamma ISO OMIM NCBI chr 1:44,154,600...44,290,407
Ensembl chr 1:45,525,137...45,650,259
JBrowse link
G EIF2B4 eukaryotic translation initiation factor 2B subunit delta ISO OMIM NCBI chr2A:27,368,189...27,374,265
Ensembl chr2A:27,456,457...27,462,706
JBrowse link
G EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon ISO OMIM NCBI chr 3:181,170,806...181,180,923
Ensembl chr 3:189,652,554...189,665,528
JBrowse link
G MLH3 mutL homolog 3 ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter ClinVar PMID:25741868 NCBI chr14:55,568,033...55,603,672
Ensembl chr14:74,413,319...74,445,749
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 chr 3:129,753,399...129,795,300 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 chr11:119,746,915...119,764,062
Ensembl chr11:123,663,210...123,678,015
JBrowse link
G HEPN1 hepatocellular carcinoma, down-regulated 1 ISO ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts ClinVar NCBI chr11:119,746,926...119,748,366
Ensembl chr11:123,661,843...123,662,109
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:11935341 PMID:12189496 PMID:12939431 PMID:14572144 More... NCBI chr22:30,287,928...30,316,094
Ensembl chr22:49,289,366...49,315,112
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 chr11:119,746,915...119,764,062
Ensembl chr11:123,663,210...123,678,015
JBrowse link
G MLC1 modulator of VRAC current 1 ISO OMIM NCBI chr22:30,287,928...30,316,094
Ensembl chr22:49,289,366...49,315,112
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 chr11:119,746,915...119,764,062
Ensembl chr11:123,663,210...123,678,015
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 chr11:119,746,915...119,764,062
Ensembl chr11:123,663,210...123,678,015
JBrowse link
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT3 AKT serine/threonine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22729224 NCBI chr 1:219,107,482...219,463,140
Ensembl chr 1:224,480,784...224,824,838
JBrowse link
G CCND2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24705253 PMID:29642246 NCBI chr12:4,385,957...4,417,602
Ensembl chr12:4,309,272...4,335,551
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22729224 NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
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:24497998 PMID:25741868 More... NCBI chr19:17,632,265...17,649,664 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 chr19:17,632,265...17,649,664 JBrowse link
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT3 AKT serine/threonine kinase 3 ISO OMIM NCBI chr 1:219,107,482...219,463,140
Ensembl chr 1:224,480,784...224,824,838
JBrowse link
G C1H1orf100 chromosome 1 C1orf100 homolog ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:219,964,465...220,001,843
Ensembl chr 1:225,346,231...225,382,166
JBrowse link
G CEP170 centrosomal protein 170 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:218,726,142...218,856,585
Ensembl chr 1:224,107,145...224,238,813
JBrowse link
G PLD5 phospholipase D family member 5 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:217,640,005...218,081,158 JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:218,856,571...219,107,855
Ensembl chr 1:224,239,009...224,481,132
JBrowse link
G ZBTB18 zinc finger and BTB domain containing 18 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:219,660,496...219,669,134
Ensembl chr 1:225,042,281...225,050,259
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 chr12:4,385,957...4,417,602
Ensembl chr12:4,309,272...4,335,551
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 chr15:57,367,314...57,430,322
Ensembl chr15:76,331,610...76,394,476
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 chr22:22,951,723...22,964,278
Ensembl chr22:41,035,622...41,046,431
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 chr22:18,998,060...19,094,507
Ensembl chr22:36,849,794...36,919,509
Ensembl chr22:36,849,794...36,919,509
JBrowse link
G TECPR2 tectonin beta-propeller repeat containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26555167 NCBI chr14:82,984,313...83,120,853
Ensembl chr14:102,814,542...102,932,587
JBrowse link
G UCHL1 ubiquitin C-terminal hydrolase L1 ISO DNA:deletion RGD PMID:11555633 RGD:1302546 NCBI chr 4:35,580,755...35,592,314
Ensembl chr 4:41,428,759...41,440,129
JBrowse link
G UCHL3 ubiquitin C-terminal hydrolase L3 ISO RGD PMID:11555633 RGD:1302546 NCBI chr13:56,776,436...56,832,539
Ensembl chr13:75,549,647...75,878,673
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 6:43,895,255...43,909,347
Ensembl chr 6:45,176,773...45,191,505
JBrowse link
G ATP13A2 ATPase cation transporting 13A2 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:16964263 PMID:21696388 PMID:26467025 PMID:28492532 NCBI chr 1:15,929,613...15,955,631
Ensembl chr 1:16,986,385...17,006,033
Ensembl chr 1:16,986,385...17,006,033
JBrowse link
G CRAT carnitine O-acetyltransferase ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:25741868 PMID:29395073 NCBI chr 9:100,220,019...100,236,061
Ensembl chr 9:128,880,057...128,896,484
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
CTD
ClinVar
PMID:11479594 PMID:12510040 PMID:15565311 PMID:15659606 PMID:15834858 More... NCBI chr20:3,924,054...3,959,393
Ensembl chr20:3,723,211...3,757,748
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
Neuroaxonal dystrophy, PLA2G6-related
ClinVar
OMIA
PMID:8583759 PMID:16783378 PMID:17033970 PMID:17543020 PMID:17552463 More... NCBI chr22:18,998,060...19,094,507
Ensembl chr22:36,849,794...36,919,509
Ensembl chr22:36,849,794...36,919,509
JBrowse link
G POLR1C RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Iron accumulation in brain ClinVar PMID:32581362 NCBI chr 6:43,101,771...43,121,460
Ensembl chr 6:44,395,787...44,412,257
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 6:136,662,837...136,748,743
Ensembl chr 6:140,748,309...140,830,499
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 More... NCBI chr  X:41,372,722...41,400,441
Ensembl chr  X:49,224,864...49,233,960
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 chr22:18,998,060...19,094,507
Ensembl chr22:36,849,794...36,919,509
Ensembl chr22:36,849,794...36,919,509
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 chr22:18,998,060...19,094,507
Ensembl chr22:36,849,794...36,919,509
Ensembl chr22:36,849,794...36,919,509
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 chr19:45,966,431...45,968,015
Ensembl chr19:54,788,854...54,790,465
JBrowse link
G GYS1 glycogen synthase 1 ISO ClinVar Annotator: match by term: Neuroferritinopathy ClinVar PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr19:45,970,127...45,995,269
Ensembl chr19:54,761,479...54,786,726
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 C19H19orf12 chromosome 19 C19orf12 homolog ISO OMIM NCBI chr19:26,626,994...26,643,372
Ensembl chr19:35,385,884...35,401,408
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 CACNA1F calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:41,504,804...41,533,501
Ensembl chr  X:49,356,994...49,385,678
JBrowse link
G CCDC120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:41,341,834...41,367,761
Ensembl chr  X:49,207,391...49,223,552
JBrowse link
G CCDC22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:41,535,439...41,550,547
Ensembl chr  X:49,387,980...49,402,742
JBrowse link
G CLCN5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:42,137,523...42,299,716
Ensembl chr  X:49,854,165...50,006,363
JBrowse link
G EBP EBP cholestenol delta-isomerase ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:40,820,042...40,826,957 JBrowse link
G ERAS ES cell expressed Ras ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:41,125,895...41,127,757
Ensembl chr  X:48,986,812...48,987,513
JBrowse link
G FOXP3 forkhead box P3 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:41,550,462...41,567,492
Ensembl chr  X:49,402,652...49,417,029
JBrowse link
G GATA1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:41,088,724...41,092,190
Ensembl chr  X:48,945,394...48,953,126
JBrowse link
G GLOD5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:41,060,152...41,071,654
Ensembl chr  X:48,920,747...48,932,442
JBrowse link
G GPKOW G-patch domain and KOW motifs ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:41,413,165...41,423,780
Ensembl chr  X:49,267,657...49,278,495
JBrowse link
G GRIPAP1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:41,271,762...41,300,327
Ensembl chr  X:49,128,760...49,157,059
JBrowse link
G HDAC6 histone deacetylase 6 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:41,099,539...41,122,650
Ensembl chr  X:48,960,430...48,982,642
JBrowse link
G KCND1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:41,258,803...41,270,036
Ensembl chr  X:49,115,933...49,127,030
JBrowse link
G OTUD5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:41,219,536...41,256,219 JBrowse link
G PAGE4 PAGE family member 4 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:42,044,199...42,048,954
Ensembl chr  X:49,758,858...49,763,611
JBrowse link
G PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:41,128,785...41,133,284
Ensembl chr  X:48,988,948...48,990,028
JBrowse link
G PIM2 Pim-2 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:41,210,494...41,216,552
Ensembl chr  X:49,068,721...49,074,731
JBrowse link
G PLP2 proteolipid protein 2 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr 5:175,735,372...175,735,931 JBrowse link
G PPP1R3F protein phosphatase 1 regulatory subunit 3F ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:41,569,825...41,587,523 JBrowse link
G PQBP1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:41,188,244...41,200,312
Ensembl chr  X:49,053,030...49,058,585
JBrowse link
G PRAF2 PRA1 domain family member 2 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:41,369,432...41,372,322
Ensembl chr  X:49,224,864...49,233,960
JBrowse link
G PRICKLE3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:41,474,569...41,486,986
Ensembl chr  X:49,327,145...49,338,613
JBrowse link
G RBM3 RNA binding motif protein 3 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:40,872,745...40,876,611
Ensembl chr  X:48,734,777...48,738,077
JBrowse link
G SUV39H1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:40,993,911...41,007,362
Ensembl chr  X:48,855,494...48,868,131
JBrowse link
G SYP synaptophysin ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:41,487,538...41,500,039
Ensembl chr  X:49,340,021...49,352,420
JBrowse link
G TBC1D25 TBC1 domain family member 25 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:40,837,887...40,860,885
Ensembl chr  X:48,701,740...48,724,366
JBrowse link
G TFE3 transcription factor binding to IGHM enhancer 3 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:41,326,802...41,341,574
Ensembl chr  X:49,182,795...49,197,194
JBrowse link
G TIMM17B translocase of inner mitochondrial membrane 17B ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:41,191,130...41,195,561
Ensembl chr  X:49,049,175...49,053,452
JBrowse link
G USP27X ubiquitin specific peptidase 27 X-linked ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:42,093,799...42,097,346
Ensembl chr  X:49,809,559...49,810,875
JBrowse link
G WAS WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:40,982,132...40,989,767
Ensembl chr  X:48,842,765...48,850,380
JBrowse link
G WDR13 WD repeat domain 13 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:40,895,793...40,907,183
Ensembl chr  X:48,757,416...48,765,111
JBrowse link
G WDR45 WD repeat domain 45 ISO OMIM NCBI chr  X:41,372,722...41,400,441
Ensembl chr  X:49,224,864...49,233,960
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 chr17:14,750,246...14,754,417
Ensembl chr17:14,973,662...14,977,797
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 6:136,662,837...136,748,743
Ensembl chr 6:140,748,309...140,830,499
JBrowse link
Neurodegeneration with Brain Iron Accumulation 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRAT carnitine O-acetyltransferase ISO OMIM NCBI chr 9:100,220,019...100,236,061
Ensembl chr 9:128,880,057...128,896,484
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 chr10:100,729,982...100,831,694
Ensembl chr10:104,188,653...104,290,557
JBrowse link
G PMPCA peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Normal pressure hydrocephalus ClinVar PMID:10528257 PMID:25808372 NCBI chr 9:107,483,608...107,499,176
Ensembl chr 9:136,464,070...136,477,569
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 chr20:3,924,054...3,959,393
Ensembl chr20:3,723,211...3,757,748
JBrowse link
G SNCA synuclein alpha ISO RGD PMID:10934140 RGD:6480098 NCBI chr 4:82,018,585...82,132,938
Ensembl chr 4:92,737,608...92,850,600
JBrowse link
G SNCB synuclein beta ISO RGD PMID:10934140 RGD:6480098 NCBI chr 5:171,918,297...171,928,672
Ensembl chr 5:178,988,439...178,998,800
JBrowse link
G SNCG synuclein gamma ISO RGD PMID:10934140 RGD:6480098 NCBI chr10:83,383,566...83,391,064 JBrowse link
Pelizaeus-Merzbacher disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BEX2 brain expressed X-linked 2 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:92,538,901...92,540,550 JBrowse link
G BEX3 brain expressed X-linked 3 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:92,606,496...92,608,240
Ensembl chr  X:102,985,284...102,986,464
JBrowse link
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 1:203,551,556...203,561,702 JBrowse link
G LMNB1 lamin B1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:122,179,513...122,240,848
Ensembl chr 5:127,949,457...128,010,721
JBrowse link
G MORF4L2 mortality factor 4 like 2 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:92,904,721...92,917,340 JBrowse link
G PLP1 proteolipid protein 1 ISO OMIM NCBI chr  X:93,015,098...93,031,193
Ensembl chr  X:103,353,184...103,412,513
JBrowse link
G RAB40A RAB40A, member RAS oncogene family ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:92,725,605...92,814,525 JBrowse link
G RAB9B RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, connatal
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, mild
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, atypical
ClinVar PMID:1376966 PMID:1384324 PMID:1605230 PMID:1707231 PMID:1715570 More... NCBI chr  X:93,060,899...93,070,911
Ensembl chr  X:103,444,776...103,445,381
JBrowse link
G TCEAL1 transcription elongation factor A like 1 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:92,855,974...92,859,868
Ensembl chr  X:103,239,842...103,240,318
JBrowse link
G TCEAL3 transcription elongation factor A like 3 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:92,836,622...92,838,858 JBrowse link
G TCEAL4 transcription elongation factor A like 4 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:92,805,214...92,819,144
Ensembl chr  X:103,186,468...103,197,948
JBrowse link
G TCEAL5 transcription elongation factor A like 5 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:92,503,285...92,506,447
Ensembl chr  X:102,882,323...102,882,943
JBrowse link
G TCEAL7 transcription elongation factor A like 7 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:92,540,409...92,561,891
Ensembl chr  X:102,939,787...102,940,089
JBrowse link
G TCEAL8 transcription elongation factor A like 8 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:92,482,577...92,484,803 JBrowse link
G TCEAL9 transcription elongation factor A like 9 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:92,586,692...92,588,678
Ensembl chr  X:102,966,500...102,966,814
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 chr17:69,890,817...69,928,342
Ensembl chr17:75,445,923...75,479,571
JBrowse link
G TEN1 TEN1 subunit of CST complex ISO ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy ClinVar NCBI chr17:69,928,204...69,947,138 JBrowse link
peroxisome biogenesis disorder 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACRBP acrosin binding protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,768,971...6,778,613
Ensembl chr12:6,685,963...6,695,344
JBrowse link
G ATN1 atrophin 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:7,057,430...7,071,767
Ensembl chr12:6,978,576...6,990,580
JBrowse link
G C12H12orf57 chromosome 12 C12orf57 homolog ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:7,073,251...7,075,408
Ensembl chr12:6,978,576...6,990,580
JBrowse link
G C1R complement C1r ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:7,211,162...7,222,673
Ensembl chr12:7,126,723...7,137,895
JBrowse link
G C1RL complement C1r subcomponent like ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:7,224,675...7,239,524
Ensembl chr12:7,139,094...7,155,196
JBrowse link
G C1S complement C1s ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:7,191,679...7,202,036
Ensembl chr12:7,106,157...7,117,614
JBrowse link
G CD27 CD27 molecule ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,575,104...6,582,127
Ensembl chr12:6,492,119...6,499,427
JBrowse link
G CD4 CD4 molecule ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,920,587...6,951,814
Ensembl chr12:6,834,011...6,864,204
JBrowse link
G CDCA3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,980,656...6,983,796
Ensembl chr12:6,890,095...6,895,364
JBrowse link
G CHD4 chromodomain helicase DNA binding protein 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,701,004...6,738,621
Ensembl chr12:6,619,089...6,656,076
JBrowse link
G CLSTN3 calsyntenin 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:7,260,361...7,288,903
Ensembl chr12:7,175,951...7,204,526
JBrowse link
G COPS7A COP9 signalosome subunit 7A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,856,119...6,863,999
Ensembl chr12:6,770,675...6,778,199
JBrowse link
G EMG1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:7,102,619...7,108,594
Ensembl chr12:7,018,291...7,023,807
JBrowse link
G ENO2 enolase 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:7,043,807...7,053,178
Ensembl chr12:6,958,960...6,968,342
JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,665,218...6,669,170
Ensembl chr12:6,583,895...6,587,729
JBrowse link
G GNB3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,971,854...6,979,214
Ensembl chr12:6,883,280...6,890,692
JBrowse link
G GPR162 G protein-coupled receptor 162 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,952,556...6,958,414
Ensembl chr12:6,864,927...6,870,797
JBrowse link
G IFFO1 intermediate filament family orphan 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,670,415...6,686,972
Ensembl chr12:6,588,975...6,605,262
JBrowse link
G ING4 inhibitor of growth family member 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,782,402...6,795,035
Ensembl chr12:6,698,843...6,710,955
JBrowse link
G LAG3 lymphocyte activating 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,903,770...6,909,778
Ensembl chr12:6,817,507...6,823,047
JBrowse link
G LPAR5 lysophosphatidic acid receptor 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,749,957...6,767,221
Ensembl chr12:6,668,991...6,670,109
JBrowse link
G LPCAT3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:7,107,925...7,149,982
Ensembl chr12:7,024,015...7,065,945
JBrowse link
G LRRC23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:7,033,989...7,043,704
Ensembl chr12:6,948,809...6,958,880
JBrowse link
G LTBR lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,514,432...6,521,966
Ensembl chr12:6,422,470...6,438,510
JBrowse link
G MLF2 myeloid leukemia factor 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,879,347...6,898,785
Ensembl chr12:6,793,045...6,798,715
JBrowse link
G MRPL51 mitochondrial ribosomal protein L51 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,622,334...6,623,502
Ensembl chr12:6,539,516...6,540,959
JBrowse link
G NCAPD2 non-SMC condensin I complex subunit D2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,623,568...6,662,741
Ensembl chr12:6,540,750...6,580,206
JBrowse link
G NOP2 NOP2 nucleolar protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,687,763...6,699,234
Ensembl chr12:6,606,036...6,617,260
JBrowse link
G P3H3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,960,193...6,971,691
Ensembl chr12:6,872,035...6,883,187
JBrowse link
G PEX5 peroxisomal biogenesis factor 5 ISO OMIM NCBI chr12:7,318,637...7,340,428
Ensembl chr12:7,235,049...7,255,815
JBrowse link
G PHB2 prohibitin 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:7,097,073...7,102,474
Ensembl chr12:7,013,195...7,018,053
JBrowse link
G PIANP PILR alpha associated neural protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,824,377...6,832,971
Ensembl chr12:6,742,251...6,748,741
JBrowse link
G PTMS parathymosin ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,897,502...6,902,257
Ensembl chr12:6,814,264...6,815,101
JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:7,075,879...7,093,041
Ensembl chr12:6,991,099...7,008,830
JBrowse link
G RBP5 retinol binding protein 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:7,253,922...7,261,145
Ensembl chr12:7,169,592...7,175,800
JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,475,723...6,506,443 JBrowse link
G TAPBPL TAP binding protein like ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,582,266...6,592,762
Ensembl chr12:6,499,429...6,509,844
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613
JBrowse link
G TPI1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,999,275...7,002,678
Ensembl chr12:6,910,813...6,913,612
JBrowse link
G USP5 ubiquitin specific peptidase 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,983,941...6,998,469
Ensembl chr12:6,895,416...6,909,936
JBrowse link
G VAMP1 vesicle associated membrane protein 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,592,688...6,601,317
Ensembl chr12:6,509,762...6,518,459
JBrowse link
G ZNF384 zinc finger protein 384 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr12:6,798,264...6,821,705
Ensembl chr12:6,714,248...6,738,018
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 1:131,985,310...132,003,068
Ensembl chr 1:135,808,783...135,826,344
JBrowse link
G L1CAM L1 cell adhesion molecule ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:22186713 RGD:6483013 NCBI chr  X:143,412,303...143,437,090
Ensembl chr  X:153,298,690...153,324,228
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 chr11:71,911,204...72,077,528
Ensembl chr11:75,557,846...75,717,586
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 chr22:2,779,217...2,826,445
Ensembl chr22:18,449,387...18,497,886
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 chr 3:129,753,399...129,795,300 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 chr10:27,292,094...27,351,332
Ensembl chr10:27,666,395...27,711,423
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:41,535,439...41,550,547
Ensembl chr  X:49,387,980...49,402,742
JBrowse link
G WASHC5 WASH complex subunit 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:121,710,118...121,777,977
Ensembl chr 8:124,461,424...124,529,262
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 PMID:31971710 NCBI chr  X:41,535,439...41,550,547
Ensembl chr  X:49,387,980...49,402,742
JBrowse link
G DPYSL5 dihydropyrimidinase like 5 ISO ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 ClinVar PMID:3812597 PMID:31474318 PMID:33894126 NCBI chr2A:26,847,309...26,949,737
Ensembl chr2A:26,987,649...27,035,748
JBrowse link
G WASHC5 WASH complex subunit 5 ISO OMIM NCBI chr 8:121,710,118...121,777,977
Ensembl chr 8:124,461,424...124,529,262
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:41,535,439...41,550,547
Ensembl chr  X:49,387,980...49,402,742
JBrowse link
Ritscher-Schinzel Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VPS35L VPS35 endosomal protein sorting factor like ISO OMIM NCBI chr16:18,611,371...18,756,113
Ensembl chr16:19,656,142...19,801,198
JBrowse link
Ritscher-Schinzel Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPYSL5 dihydropyrimidinase like 5 ISO OMIM NCBI chr2A:26,847,309...26,949,737
Ensembl chr2A:26,987,649...27,035,748
JBrowse link
RNASET2-deficient cystic leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 ISO ClinVar Annotator: match by term: Cystic Leukoencephalopathy ClinVar PMID:25741868 PMID:27159321 PMID:28857146 NCBI chr 5:136,010,029...136,012,373 JBrowse link
G RNASET2 ribonuclease T2 ISO OMIM NCBI chr 6:164,895,396...164,923,008 JBrowse link
G TMCO6 transmembrane and coiled-coil domains 6 ISO ClinVar Annotator: match by term: Cystic Leukoencephalopathy ClinVar PMID:25741868 PMID:27159321 PMID:28857146 NCBI chr 5:136,003,993...136,009,960
Ensembl chr 5:142,120,756...142,126,727
JBrowse link
Schindler disease type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NAGA alpha-N-acetylgalactosaminidase ISO OMIM NCBI chr22:22,951,723...22,964,278
Ensembl chr22:41,035,622...41,046,431
JBrowse link
G WBP2NL WBP2 N-terminal like ISO ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 2
ClinVar Annotator: match by term: Schindler disease, type 1
ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 1
ClinVar NCBI chr22:22,891,166...22,926,920
Ensembl chr22:40,974,715...41,004,007
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:8,449,885...8,478,932
Ensembl chr  X:15,807,476...15,836,172
JBrowse link
G CUL4B cullin 4B ISO ClinVar Annotator: match by term: Pettigrew syndrome ClinVar PMID:25741868 NCBI chr  X:109,798,279...109,870,469
Ensembl chr  X:119,985,116...120,034,702
JBrowse link
ventriculomegaly - cystic kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRB2 crumbs cell polarity complex component 2 ISO OMIM NCBI chr 9:94,473,423...94,511,285
Ensembl chr 9:123,011,968...123,032,855
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:143,412,303...143,437,090
Ensembl chr  X:153,298,690...153,324,228
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 More... NCBI chr  X:143,412,303...143,437,090
Ensembl chr  X:153,298,690...153,324,228
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 chr14:15,510,881...15,632,516
Ensembl chr14:33,699,424...33,804,473
JBrowse link
G FANCB FA complementation group B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus
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:7,470,574...7,500,958
Ensembl chr  X:14,752,934...14,781,817
JBrowse link
G FANCL FA complementation group L ISO ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked ClinVar PMID:25754594 NCBI chr2A:58,270,620...58,353,001
Ensembl chr2A:59,418,265...59,499,496
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 More... NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
JBrowse link
G SALL1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: VACTERL-H ClinVar PMID:25741868 NCBI chr16:31,396,399...31,412,753
Ensembl chr16:50,274,090...50,284,819
JBrowse link
G ZIC3 Zic family member 3 ISO OMIM NCBI chr  X:126,691,534...126,705,788
Ensembl chr  X:136,954,024...136,967,819
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13867
    disease of anatomical entity 13527
      nervous system disease 11206
        central nervous system disease 9817
          brain disease 9226
            cerebral degeneration 331
              Alpers-Huttenlocher syndrome + 5
              cerebral lipidosis 0
              hydrocephalus + 91
              leukodystrophy + 175
              neuroaxonal dystrophy + 66
              senile degeneration of brain 0
paths to the root