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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.


show annotations for term's descendants           Sort by:
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
ISS		 ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar Annotator: match by term: SIEMERLING-CREUTZFELDT DISEASE | ClinVar Annotator: match by term: X-linked cerebral adrenoleukodystrophy
OMIM:300100
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1481812 PMID:6728562 PMID:6795626 PMID:7202134 PMID:7561948 More... RGD:1598655 NCBI chr  X:151,428,334...151,450,115
Ensembl chr  X:151,428,578...151,450,115 		JBrowse link
G Acsbg1 acyl-CoA synthetase bubblegum family member 1 ISO RGD PMID:15800013 RGD:11065111 NCBI chr 8:54,991,294...55,047,276
Ensembl chr 8:54,991,296...55,047,391 		JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,636,071...151,651,528
Ensembl chr  X:151,632,454...151,651,128 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,216,483...151,289,069
Ensembl chr  X:151,216,507...151,286,775 		JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,079,954...152,087,034
Ensembl chr  X:152,079,865...152,087,034 		JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,633,501...151,636,155
Ensembl chr  X:151,633,522...151,635,989 		JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,397,567...151,429,666
Ensembl chr  X:151,397,576...151,428,506 		JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,197,296...151,209,458
Ensembl chr  X:151,197,273...151,209,461 		JBrowse link
G Brcc3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr 9:1,986,942...1,989,484
Ensembl chr 9:1,986,575...1,991,080 		JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961 		JBrowse link
G Clic2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr20:149,337...164,375
Ensembl chr20:148,907...164,355 		JBrowse link
G Cmc4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr18:125,308...132,163
Ensembl chr18:125,227...132,160 		JBrowse link
G Ctag2 cancer/testis antigen 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,531,907...143,533,201
Ensembl chr  X:143,531,907...143,533,201 		JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,056,942...152,065,518
Ensembl chr  X:152,056,942...152,065,518 		JBrowse link
G Dusp9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,351,897...151,355,822
Ensembl chr  X:151,351,897...151,355,821 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,038,990...152,042,190
Ensembl chr  X:152,038,998...152,045,807 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857 		JBrowse link
G F8a1 coagulation factor VIII-associated 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:150,957,357...150,958,871
Ensembl chr  X:150,916,679...150,960,168 		JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,166,716...152,175,327
Ensembl chr  X:152,165,535...152,175,362 		JBrowse link
G Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,095,245...152,102,362
Ensembl chr  X:152,095,245...152,102,362 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr18:128,473...138,232
Ensembl chr18:132,248...138,345 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,087,611...152,094,274
Ensembl chr  X:152,087,444...152,094,272 		JBrowse link
G H2ab3 H2A.B variant histone 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:82,362,531...82,363,105
Ensembl chr  X:82,362,633...82,362,983 		JBrowse link
G Haus7 HAUS augmin-like complex, subunit 7 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,154,979...151,174,441
Ensembl chr  X:151,154,979...151,180,577 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638 		JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,515,244...151,524,175
Ensembl chr  X:151,515,247...151,524,171 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,768,621...151,778,521
Ensembl chr  X:151,768,777...151,778,521 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,138,209...152,139,632
Ensembl chr  X:152,138,218...152,139,632 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689 		JBrowse link
G Mmp10 matrix metallopeptidase 10 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr 8:4,689,840...4,697,748
Ensembl chr 8:4,689,840...4,697,748 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mpp1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...
G Mtcp1 mature T-cell proliferation 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr18:126,189...130,123 JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,656,056...151,661,304
Ensembl chr  X:151,656,056...151,661,252 		JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142 		JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,905,056...151,925,419
Ensembl chr  X:151,905,096...151,925,388 		JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,530,390...151,560,779
Ensembl chr  X:151,530,390...151,560,826 		JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10441568 NCBI chr14:97,602,829...97,621,233
Ensembl chr14:97,603,539...97,621,262 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12851857 NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952 		JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,115,699...152,131,608
Ensembl chr  X:152,115,819...152,131,603 		JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,493,832...151,508,688
Ensembl chr  X:151,494,207...151,508,674 		JBrowse link
G Pnck pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,369,406...151,373,508
Ensembl chr  X:151,369,410...151,373,446 		JBrowse link
G Pnma3 PNMA family member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:150,906,080...150,912,674
Ensembl chr  X:150,906,278...150,910,839 		JBrowse link
G Pnma5 PNMA family member 5 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:150,880,865...150,882,789
Ensembl chr  X:150,880,865...150,882,789 		JBrowse link
G Pnma6e PNMA family member 6E ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,103,531...151,108,630
Ensembl chr  X:151,103,755...151,106,037 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,661,463...151,670,538
Ensembl chr  X:151,661,458...151,670,516 		JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,054,562...152,056,769
Ensembl chr  X:152,054,452...152,056,761 		JBrowse link
G Slc10a3 solute carrier family 10, member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,154,757...152,158,563
Ensembl chr  X:152,151,076...152,162,958 		JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,384,675...151,393,979
Ensembl chr  X:151,384,675...151,393,979 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,510,452...151,515,208
Ensembl chr  X:151,510,539...151,515,198 		JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,524,191...151,528,218
Ensembl chr  X:151,524,009...151,528,202 		JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,065,539...152,076,178
Ensembl chr  X:152,065,609...152,074,001 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,922,210...151,955,902
Ensembl chr  X:151,925,526...151,954,567 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664 		JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,954,261...151,987,208
Ensembl chr  X:151,954,175...151,987,208 		JBrowse link
G Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr20:91,234...138,942
Ensembl chr20:91,272...140,386 		JBrowse link
G Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,151,862...151,153,470
Ensembl chr  X:151,151,864...151,153,479 		JBrowse link
G Ubl4a ubiquitin-like 4A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,151,242...152,154,094
Ensembl chr  X:152,151,460...152,154,069 		JBrowse link
G Vbp1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...
G Zfp185 zinc finger protein 185 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:150,831,869...150,877,652
Ensembl chr  X:150,831,862...150,874,810 		JBrowse link
G Zfp92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,116,794...151,142,451
Ensembl chr  X:151,117,102...151,143,177 		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 Aldh7a1 aldehyde dehydrogenase 7 family, member A1 ISO ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chr18:50,003,242...50,042,193
Ensembl chr18:50,009,934...50,042,193 		JBrowse link
G Lmnb1 lamin B1 ISO
ISS		 DNA:duplication:cds (human)
OMIM:169500
ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy | ClinVar Annotator: match by term: Leukodystrophy, Adult-Onset | ClinVar Annotator: match by term: Syndrome with microcephaly as major feature		 MouseDO
ClinVar
OMIM
RGD		 PMID:16951681 PMID:19151023 PMID:21225301 PMID:21909802 PMID:23649844 More... RGD:10044243 NCBI chr18:50,175,861...50,215,210
Ensembl chr18:50,175,874...50,214,502 		JBrowse link
G Phax phosphorylated adaptor for RNA export ISO ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chr18:50,053,133...50,069,823
Ensembl chr18:50,053,023...50,069,823 		JBrowse link
G Spmip10 sperm microtubule inner protein 10 ISO ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chr18:50,070,610...50,073,942
Ensembl chr18:50,070,610...50,073,942 		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:6595937 PMID:31775912 NCBI chr19:38,999,130...39,021,152
Ensembl chr19:38,999,163...39,021,147 		JBrowse link
G Csf1r colony stimulating factor 1 receptor ISO ClinVar Annotator: match by term: CSF1R-Related Adult-Onset Leukoencephalopathy | ClinVar Annotator: match by term: CSF1R-related condition | ClinVar Annotator: match by term: Hereditary diffuse leukoencephalopathy with spheroids | ClinVar Annotator: match by term: Leukoencephalopathy, diffuse hereditary, with spheroids 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2470618 PMID:8614507 PMID:9536098 PMID:16523341 PMID:17576681 More... NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415 		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
ISS		 ClinVar Annotator: match by term: Alexander disease | ClinVar Annotator: match by term: GFAP-related condition
OMIM:203450
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1941292 PMID:11138011 PMID:11398833 PMID:11567214 PMID:11587071 More... NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589 		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 chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856 		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 chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494 		JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit susceptibility ISO
IAGP		 DNA:mutations:cds:
ClinVar Annotator: match by term: Alpers progressive infantile poliodystrophy | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Alpers Syndrome | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.P1073L (3218C>T) (human)
DNA:missense mutations:cds:		 ClinVar
CTD
OMIM
RGD		 PMID:632821 PMID:1539879 PMID:1582434 PMID:1858914 PMID:2067633 More... RGD:8694184, RGD:15039298, RGD:8694317, RGD:8694284 NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Polrmt RNA polymerase mitochondrial ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:25741868 NCBI chr 7:9,959,532...9,969,791
Ensembl chr 7:9,959,576...9,969,791 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 More... NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481 		JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:2392416 PMID:11301032 PMID:21447491 PMID:25429852 PMID:28492532 NCBI chr 1:133,308,920...133,322,296
Ensembl chr 1:133,308,938...133,322,296 		JBrowse link
CADASIL term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: CASIL ClinVar PMID:17660818 PMID:21270825 PMID:23881107 PMID:25741868 PMID:28492532 More... NCBI chr 8:109,708,440...109,722,511
Ensembl chr 8:109,708,440...109,722,477 		JBrowse link
G Htra1 HtrA serine peptidase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379 		JBrowse link
G Notch3 notch receptor 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CASIL | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | ClinVar Annotator: match by term: Dementia, hereditary multi-infarct type		 CTD
ClinVar		 PMID:3484396 PMID:8878478 PMID:9388399 PMID:10227618 PMID:10371548 More... NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025 		JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: CASIL ClinVar PMID:17660818 PMID:21270825 PMID:23881107 PMID:25741868 PMID:28492532 More... NCBI chr 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796 		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
ISS		 ClinVar Annotator: match by term: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 | ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | ClinVar Annotator: match by term: Recurrent subcortical infarcts
OMIM:125310		 OMIM
ClinVar
MouseDO		 PMID:3484396 PMID:8878478 PMID:9388399 PMID:10227618 PMID:10371548 More... NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025 		JBrowse link
CADASIL2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htra1 HtrA serine peptidase 1 ISO ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | ClinVar Annotator: match by term: HTRA1-related autosomal dominant cerebral small vessel disease OMIM
ClinVar		 PMID:19387015 PMID:25712943 PMID:25741868 PMID:26063658 PMID:26467025 More... NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379 		JBrowse link
G Notch3 notch receptor 3 ISO ClinVar Annotator: match by term: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2 ClinVar PMID:28492532 NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025 		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
ISS
IAGP		 ClinVar Annotator: match by term: Canavan Disease, Familial Form | ClinVar Annotator: match by term: Mild Canavan disease | ClinVar Annotator: match by term: Spongy degeneration of central nervous system
OMIM:271900
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:7599639 PMID:7668285 PMID:8023850 PMID:8037206 PMID:8088831 More... RGD:1599291, RGD:1599298 NCBI chr10:57,891,704...57,945,267
Ensembl chr10:57,892,104...57,945,272 		JBrowse link
G Camkk1 calcium/calmodulin-dependent protein kinase kinase 1 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:12638939 PMID:19932039 PMID:28492532 NCBI chr10:57,637,335...57,660,498
Ensembl chr10:57,637,391...57,660,498 		JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 ISO RGD PMID:19739253 RGD:5686858 NCBI chr 8:57,264,962...57,300,010
Ensembl chr 8:57,264,962...57,300,010 		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:12638939 PMID:19932039 More... NCBI chr10:57,801,551...57,817,213
Ensembl chr10:57,801,456...57,817,120 		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:12638939 PMID:19932039 PMID:28492532 NCBI chr10:57,794,072...57,795,671
Ensembl chr10:57,793,685...57,796,217 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO protein:decreased expression:cerebellum, brain stem RGD PMID:15016427 RGD:6484588 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957 		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:12638939 PMID:19932039 PMID:28492532 NCBI chr10:57,747,731...57,750,518
Ensembl chr10:57,747,573...57,750,512 		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:12638939 PMID:19932039 PMID:28492532 NCBI chr10:57,704,813...57,764,093
Ensembl chr10:57,591,753...57,764,093
Ensembl chr10:57,591,753...57,764,093 		JBrowse link
G Ncbp3 nuclear cap binding subunit 3 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:12638939 PMID:19932039 PMID:28492532 NCBI chr10:57,665,716...57,695,432
Ensembl chr10:57,665,716...57,695,432 		JBrowse link
G P2rx1 purinergic receptor P2X 1 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:12638939 PMID:19932039 PMID:28492532 NCBI chr10:57,618,586...57,633,648
Ensembl chr10:57,618,586...57,633,623 		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:12638939 PMID:19932039 PMID:28492532 NCBI chr10:57,777,737...57,789,426
Ensembl chr10:57,777,819...57,789,423 		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:12638939 PMID:19932039 More... NCBI chr10:57,817,551...57,841,981
Ensembl chr10:57,817,629...57,841,980 		JBrowse link
G Sod2 superoxide dismutase 2 ISS OMIM:271900 MouseDO NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Spata22 spermatogenesis associated 22 ISO ClinVar Annotator: match by term: Canavan Disease, Familial Form | ClinVar Annotator: match by term: Mild Canavan disease | ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7599639 PMID:7668285 PMID:8023850 PMID:8037206 PMID:8088831 More... NCBI chr10:57,945,272...57,963,081
Ensembl chr10:57,932,187...57,963,081 		JBrowse link
G Tax1bp3 Tax1 binding protein 3 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:9537412 PMID:10909858 PMID:12638939 PMID:19932039 More... NCBI chr10:57,795,845...57,800,363
Ensembl chr10:57,795,382...57,800,363 		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:12638939 PMID:19932039 More... NCBI chr10:57,851,428...57,876,513
Ensembl chr10:57,851,428...57,876,513 		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:12638939 PMID:19932039 More... NCBI chr10:57,883,546...57,915,865
Ensembl chr10:57,883,546...57,913,296 		JBrowse link
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htra1 HtrA serine peptidase 1 ISO ClinVar Annotator: match by term: CARASIL | ClinVar Annotator: match by term: CARASIL syndrome | ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease | ClinVar Annotator: match by term: HTRA1-related cerebral small vessel disease
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11889251 PMID:18316707 PMID:19387015 PMID:20437615 PMID:21115960 More... NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379 		JBrowse link
G Pura purine rich element binding protein A ISO ClinVar Annotator: match by term: Subcortical vascular encephalopathy, progressive ClinVar PMID:24500651 PMID:27148565 NCBI chr18:27,885,071...27,905,509
Ensembl chr18:27,884,556...27,905,513 		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: Neurodegeneration due to cerebral folate transport deficiency ClinVar PMID:28492532 NCBI chr 1:156,238,640...156,266,005
Ensembl chr 1:156,262,841...156,268,145 		JBrowse link
G Clpb ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency ClinVar PMID:19732866 PMID:22586289 PMID:28492532 NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788 		JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency ClinVar PMID:28492532 NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055 		JBrowse link
G Folr1 folate receptor alpha ISO ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18842806 PMID:19732866 More... NCBI chr 1:156,219,460...156,238,436
Ensembl chr 1:156,219,460...156,230,667 		JBrowse link
G Folr2 folate receptor beta ISO ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency ClinVar PMID:19732866 PMID:22586289 PMID:28492532 NCBI chr 1:156,200,044...156,218,380
Ensembl chr 1:156,200,060...156,205,724 		JBrowse link
G Il18bp interleukin 18 binding protein ISO ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency ClinVar PMID:28492532 NCBI chr 1:156,372,923...156,374,963
Ensembl chr 1:156,372,883...156,374,963 		JBrowse link
G Inppl1 inositol polyphosphate phosphatase-like 1 ISO ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency ClinVar PMID:19732866 PMID:22586289 PMID:28492532 NCBI chr 1:156,183,043...156,197,500
Ensembl chr 1:156,183,059...156,197,500 		JBrowse link
G Krtap5-8 keratin associated protein 5-8 ISO ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency ClinVar PMID:28492532 NCBI chr 1:197,446,125...197,446,817
Ensembl chr 1:197,446,125...197,446,817 		JBrowse link
G Lamtor1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 ISO ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency ClinVar PMID:28492532 NCBI chr 1:156,272,116...156,277,687
Ensembl chr 1:156,272,064...156,291,179 		JBrowse link
G Lrtomt leucine rich transmembrane and O-methyltransferase domain containing ISO ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency ClinVar PMID:28492532 NCBI chr 1:156,266,655...156,268,704
Ensembl chr 1:156,266,655...156,268,704 		JBrowse link
G Nadsyn1 NAD synthetase 1 ISO ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency ClinVar PMID:28492532 NCBI chr 1:198,981,559...199,009,853
Ensembl chr 1:198,981,604...199,009,869 		JBrowse link
G Numa1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency ClinVar PMID:28492532 NCBI chr 1:156,297,907...156,372,855
Ensembl chr 1:156,326,259...156,372,855 		JBrowse link
G Phox2a paired-like homeobox 2a ISO ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency ClinVar PMID:19732866 PMID:22586289 PMID:28492532 NCBI chr 1:156,178,754...156,183,118
Ensembl chr 1:156,178,754...156,183,118 		JBrowse link
G Rnf121 ring finger protein 121 ISO ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency ClinVar PMID:28492532 NCBI chr 1:156,377,368...156,439,936
Ensembl chr 1:156,377,364...156,446,826 		JBrowse link
Childhood-Onset Remitting Leukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbp2 fructose-bisphosphatase 2 ISO ClinVar Annotator: match by term: Leukodystrophy, childhood-onset, remitting OMIM
ClinVar		 PMID:33977262 NCBI chr17:2,236,088...2,253,702
Ensembl chr17:2,236,336...2,253,698 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: X-linked dominant chondrodysplasia, Chassaing-Lacombe type		 OMIM
CTD
ClinVar		 PMID:16001442 PMID:20181727 PMID:25741868 PMID:28492532 NCBI chr  X:14,550,645...14,572,445
Ensembl chr  X:14,551,044...14,572,441 		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 ClinVar Annotator: match by term: Clark-Baraitser syndrome | ClinVar Annotator: match by term: TRIP12-related condition OMIM
ClinVar		 PMID:3812552 PMID:25363768 PMID:25741868 PMID:27848077 PMID:28251352 More... NCBI chr 9:85,916,691...86,043,312
Ensembl chr 9:85,916,691...86,051,403 		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 chr10:105,836,972...105,848,583
Ensembl chr10:105,836,982...105,848,500 		JBrowse link
G Sec24d SEC24 homolog D, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:211,418,557...211,526,588
Ensembl chr 2:211,418,623...211,526,587 		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 ClinVar Annotator: match by term: Cole-Carpenter syndrome 1 OMIM
ClinVar		 PMID:25683117 PMID:25741868 PMID:28492532 PMID:29263160 PMID:30063094 NCBI chr10:105,836,972...105,848,583
Ensembl chr10:105,836,982...105,848,500 		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 ClinVar Annotator: match by term: Cole-Carpenter syndrome 2 | ClinVar Annotator: match by term: SEC24D-related condition OMIM
ClinVar		 PMID:25683121 PMID:25741868 PMID:26467156 PMID:27942778 PMID:28492532 More... NCBI chr 2:211,418,557...211,526,588
Ensembl chr 2:211,418,623...211,526,587 		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 IAGP RGD PMID:30705305 RGD:14995942 NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334 		JBrowse link
G Tmem67wpk transmembrane protein 67; wpk mutant IAGP RGD PMID:30705305 RGD:14995942
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 ClinVar Annotator: match by term: Hydrocephalus, congenital communicating, 1 OMIM
ClinVar		 PMID:25741868 PMID:29983323 NCBI chr 8:114,193,439...114,250,807
Ensembl chr 8:114,199,187...114,250,807 		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, nonsyndromic, autosomal recessive 2 ClinVar PMID:11673361 PMID:18450854 PMID:19780764 PMID:20434380 PMID:23028790 More... NCBI chr 2:242,858,865...242,883,036
Ensembl chr 2:242,858,865...242,883,147 		JBrowse link
G Mpdz multiple PDZ domain crumbs cell polarity complex component ISO ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive 2 | ClinVar Annotator: match by term: MPDZ-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:23240096 More... NCBI chr 5:95,766,112...95,920,531
Ensembl chr 5:95,766,118...95,920,499 		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 ClinVar Annotator: match by term: HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: Hydrocephalus, congenital, 3, with brain anomalies OMIM
ClinVar		 PMID:16371500 PMID:21885617 PMID:25558065 PMID:25741868 PMID:28492532 More... NCBI chr10:60,281,969...60,295,374
Ensembl chr10:60,281,972...60,295,296 		JBrowse link
Congenital Hydrocephalus 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcc1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 susceptibility ISO ClinVar Annotator: match by term: Hydrocephalus, congenital, 5, susceptibility to | ClinVar Annotator: match by term: SMARCC1-associated developmental dysgenesis syndrome OMIM
ClinVar		 PMID:25741868 PMID:29983323 PMID:33077954 NCBI chr 8:110,111,097...110,214,734
Ensembl chr 8:110,111,122...110,214,720 		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:25741868 PMID:28492532 PMID:28625504 PMID:31474318 NCBI chr 9:86,802,791...86,928,611
Ensembl chr 9:86,802,868...86,928,860 		JBrowse link
G Bltp1 bridge-like lipid transfer protein family member 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25558065 PMID:25741868 NCBI chr 2:119,708,114...119,924,697
Ensembl chr 2:119,708,209...119,924,695 		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 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G Chn1 chimerin 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr 3:58,509,822...58,676,462
Ensembl chr 3:58,510,536...58,676,490 		JBrowse link
G Dph1 diphthamide biosynthesis 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25558065 PMID:25741868 PMID:30877278 NCBI chr10:60,028,081...60,039,764
Ensembl chr10:60,026,048...60,039,850 		JBrowse link
G Dpysl5 dihydropyrimidinase-like 5 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:3812597 PMID:31474318 PMID:33894126 NCBI chr 6:25,575,104...25,659,422
Ensembl chr 6:25,575,104...25,659,422 		JBrowse link
G Foxc1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19668217 NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803 		JBrowse link
G Hyls1 HYLS1, centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Dandy-Walker malformation ClinVar PMID:25741868 PMID:28492532 PMID:30697592 PMID:31474318 NCBI chr 8:33,912,692...33,921,760
Ensembl chr 8:33,912,692...33,921,760 		JBrowse link
G Ints1 integrator complex subunit 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar NCBI chr12:14,861,312...14,886,048
Ensembl chr12:14,861,318...14,886,037 		JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
G Maged2 MAGE family member D2 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar NCBI chr  X:19,733,593...19,741,769
Ensembl chr  X:19,733,597...19,740,477 		JBrowse link
G Mid1 midline 1 ISO ClinVar Annotator: match by term: Dandy-Walker malformation ClinVar PMID:15121778 PMID:15558842 PMID:25741868 NCBI chr  X:24,116,674...24,491,205
Ensembl chr  X:24,120,293...24,248,353 		JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Dandy-Walker malformation ClinVar PMID:12181311 PMID:25292412 PMID:25741868 PMID:28334876 PMID:28639748 More... NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843 		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 chr15:75,850,389...76,019,711
Ensembl chr15:75,850,624...76,019,712 		JBrowse link
G Ppp1cb protein phosphatase 1 catalytic subunit beta ISO ClinVar Annotator: match by term: Dandy-Walker malformation ClinVar PMID:25741868 PMID:25741869 PMID:27264673 PMID:27681385 PMID:27868344 More... NCBI chr 6:23,958,813...23,992,841
Ensembl chr 6:23,960,998...23,992,824 		JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Dandy-Walker malformation ClinVar PMID:25741868 PMID:28492532 PMID:30697592 PMID:31474318 NCBI chr 8:33,910,461...33,918,716
Ensembl chr 8:33,911,357...33,918,714 		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 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489 		JBrowse link
G Tmem47 transmembrane protein 47 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar NCBI chr  X:45,421,405...45,447,900
Ensembl chr  X:45,421,405...45,447,900 		JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:20466733 PMID:25741868 PMID:28492532 PMID:30744660 PMID:31474318 More... NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:10521293 PMID:17568405 PMID:18700423 PMID:20888932 PMID:25741868 More... NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602 		JBrowse link
G Zfp423 zinc finger protein 423 ISS OMIM:220200 MouseDO NCBI chr19:19,111,213...19,407,373
Ensembl chr19:19,110,238...19,407,373 		JBrowse link
G Zic1 Zic family member 1 ISO
ISS		 OMIM:220200 MouseDO
RGD		 PMID:15338008 RGD:1599905 NCBI chr 8:91,908,548...91,918,020
Ensembl chr 8:91,908,576...91,912,731 		JBrowse link
G Zic4 Zic family member 4 ISS OMIM:220200 MouseDO NCBI chr 8:91,916,356...91,936,525
Ensembl chr 8:91,920,015...91,935,368 		JBrowse link
De Hauwere syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities ClinVar PMID:25741868 NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803 		JBrowse link
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities ClinVar PMID:25741868 NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293 		JBrowse link
Hereditary Diffuse Leukoencephalopathy with Spheroids 2 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: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS, SWEDISH TYPE | ClinVar Annotator: match by term: Leukoencephalopathy, hereditary diffuse, with spheroids 2 OMIM
ClinVar		 PMID:6595937 PMID:25741868 PMID:28492532 PMID:31775912 NCBI chr19:38,999,130...39,021,152
Ensembl chr19:38,999,163...39,021,147 		JBrowse link
hydrocephalus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add1 adducin 1 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182 		JBrowse link
G Ak7 adenylate kinase 7 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 6:124,611,789...124,679,978
Ensembl chr 6:124,611,902...124,679,961 		JBrowse link
G Ak8 adenylate kinase 8 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 3:12,028,895...12,144,468
Ensembl chr 3:12,028,954...12,144,465 		JBrowse link
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:9536098 PMID:17068770 PMID:17576681 PMID:23350806 PMID:25741868 More... NCBI chr18:50,003,242...50,042,193
Ensembl chr18:50,009,934...50,042,193 		JBrowse link
G Aqp1 aquaporin 1 disease_progression IEP RGD PMID:21135737 RGD:5148011 NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690 		JBrowse link
G Aqp4 aquaporin 4 disease_progression IEP RGD PMID:21135737 RGD:5148011 NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856 		JBrowse link
G Arid1b AT-rich interaction domain 1B ISO RGD PMID:28867767 RGD:13439722 NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493 		JBrowse link
G Arx aristaless related homeobox ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:25741868 NCBI chr  X:58,016,233...58,028,149
Ensembl chr  X:58,016,233...58,028,142 		JBrowse link
G Asxl2 ASXL transcriptional regulator 2 ISO ClinVar Annotator: match by term: Severe hydrocephalus ClinVar PMID:25741868 NCBI chr 6:26,425,017...26,514,899
Ensembl chr 6:26,425,954...26,507,477 		JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:22842232 PMID:25741868 PMID:26297560 PMID:26410222 PMID:28492532 NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918 		JBrowse link
G Bok BCL2 family apoptosis regulator BOK IEP mRNA:increased expression:brain:Hydrocephalus-Texas (HTX, RS:0000399) vs. SD (RS:0000681) rats RGD PMID:15964663 RGD:1624238 NCBI chr 9:94,223,493...94,234,476
Ensembl chr 9:94,223,389...94,234,476 		JBrowse link
G Cacna1i calcium voltage-gated channel subunit alpha1 I ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:25741868 NCBI chr 7:111,835,996...111,947,418
Ensembl chr 7:111,836,012...111,944,688 		JBrowse link
G Ccdc39 coiled-coil domain 39 molecular ruler complex subunit ISS
IMP		 OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO
RGD		 PMID:31771992 RGD:150521527 NCBI chr 2:116,665,651...116,703,354
Ensembl chr 2:116,665,261...116,703,350 		JBrowse link
G Ccdc39em1Jgn coiled-coil domain containing 39; CRISPR/Cas9 induced mutant 1, Jgn IMP RGD PMID:31771992 RGD:150521527
G Ccdc85c coiled-coil domain containing 85C ISS
IMP		 OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO
RGD		 PMID:31341137 RGD:150520163 NCBI chr 6:127,113,440...127,184,328
Ensembl chr 6:127,113,442...127,184,371 		JBrowse link
G Ccdc85cem1Kyo coiled-coil domain containing 85C; TALEN induced mutant1,Kyo IMP RGD PMID:31341137 RGD:150520163
G Ccdc88c coiled-coil domain containing 88C ISO ClinVar Annotator: match by term: CCDC88C-related condition | ClinVar Annotator: match by term: Hydrocephalus | ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18414213 PMID:21031079 PMID:23042809 PMID:25062847 PMID:25741868 More... NCBI chr 6:120,169,752...120,289,459
Ensembl chr 6:120,169,738...120,289,555 		JBrowse link
G Ccnd2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495 		JBrowse link
G Celsr2 cadherin, EGF LAG seven-pass G-type receptor 2 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 2:196,029,206...196,053,848
Ensembl chr 2:196,029,434...196,053,845 		JBrowse link
G Crppa CDP-L-ribitol pyrophosphorylase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22522421 NCBI chr 6:53,120,264...53,397,030
Ensembl chr 6:53,121,438...53,397,028 		JBrowse link
G Dnah9 dynein, axonemal, heavy chain 9 ISO ClinVar Annotator: match by term: Hydrocephalus ClinVar PMID:25741868 PMID:28492532 PMID:30471718 NCBI chr10:50,496,174...50,864,909
Ensembl chr10:50,497,688...50,864,949 		JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive 1 ClinVar NCBI chr 8:20,342,430...20,394,660
Ensembl chr 8:20,342,089...20,394,552 		JBrowse link
G Dpcd deleted in primary ciliary dyskinesia ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 1:244,408,766...244,426,891
Ensembl chr 1:244,408,785...244,426,888 		JBrowse link
G Dusp1 dual specificity phosphatase 1 ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:29983323 NCBI chr10:16,680,478...16,683,275 JBrowse link
G E2f5 E2F transcription factor 5 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 2:86,997,331...87,012,908
Ensembl chr 2:86,997,332...87,012,990 		JBrowse link
G Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:29983323 NCBI chr10:16,531,192...16,626,974
Ensembl chr10:16,531,194...16,626,957 		JBrowse link
G Fgf18 fibroblast growth factor 18 ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:29983323 NCBI chr10:17,706,011...17,737,702
Ensembl chr10:17,706,174...17,736,818 		JBrowse link
G Foxc1 forkhead box C1 ISO RGD PMID:9635428 RGD:8662364 NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803 		JBrowse link
G Fsd1l fibronectin type III and SPRY domain containing 1-like ISO ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive 1 ClinVar PMID:25741868 NCBI chr 5:68,258,877...68,334,931
Ensembl chr 5:68,258,932...68,334,928 		JBrowse link
G Gldc glycine decarboxylase ISO RGD PMID:25736695 RGD:12904662 NCBI chr 1:227,883,249...227,962,119
Ensembl chr 1:227,883,249...227,962,097 		JBrowse link
G Hmgb1 high mobility group box 1 IEP RGD PMID:22116431 RGD:10402405 NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565
Ensembl chr16:5,901,586...5,978,565 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 IEP RGD PMID:15964663 RGD:1624238 NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662 		JBrowse link
G Hydin Hydin, axonemal central pair apparatus protein ISO
ISS		 DNA:nonsense mutation:exon (mouse)
OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219
CTD Direct Evidence: marker/mechanism		 MouseDO
CTD
RGD		 PMID:12719380 PMID:19029900 PMID:12719380 RGD:634487 NCBI chr19:38,236,996...38,583,271
Ensembl chr19:38,236,464...38,583,264 		JBrowse link
G Ift122 intraflagellar transport 122 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20493458 NCBI chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458 		JBrowse link
G Ift56 intraflagellar transport 56 ISO ClinVar Annotator: match by term: Hydrocephalus ClinVar PMID:31595528 PMID:34177428 NCBI chr 4:67,090,622...67,154,707
Ensembl chr 4:67,090,660...67,147,903 		JBrowse link
G Itgb1 integrin subunit beta 1 IMP RGD PMID:19726708 RGD:2325325 NCBI chr19:56,705,123...56,753,199
Ensembl chr19:56,705,171...56,753,195 		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 3:8,682,964...8,736,615
Ensembl chr 3:8,682,113...8,736,667 		JBrowse link
G Kif27 kinesin family member 27 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr17:6,299,544...6,375,106
Ensembl chr17:6,299,569...6,369,768 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Severe hydrocephalus | ClinVar Annotator: match by term: X-linked hydrocephalus ClinVar PMID:7562969 PMID:7881431 PMID:8929944 PMID:9300653 PMID:9643285 More... NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
G Llgl1 LLGL scribble cell polarity complex component 1 ISO RGD PMID:15037549 RGD:1300301 NCBI chr10:45,379,423...45,394,096
Ensembl chr10:45,379,515...45,394,094 		JBrowse link
G Mboat7 membrane bound O-acyltransferase domain containing 7 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 1:65,525,206...65,539,538
Ensembl chr 1:65,525,213...65,539,538 		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:25741868 PMID:28492532 PMID:28556411 NCBI chr 5:95,766,112...95,920,531
Ensembl chr 5:95,766,118...95,920,499 		JBrowse link
G Neurl1b neuralized E3 ubiquitin protein ligase 1B ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:29983323 NCBI chr10:16,754,002...16,785,049
Ensembl chr10:16,757,208...16,785,119 		JBrowse link
G Nme5 NME/NM23 family member 5 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr18:26,163,558...26,180,742
Ensembl chr18:26,163,555...26,180,794 		JBrowse link
G Nme7 NME/NM23 family member 7 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr13:76,657,303...76,786,768
Ensembl chr13:76,657,367...76,786,765 		JBrowse link
G Npm1 nucleophosmin 1 ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:29983323 NCBI chr10:17,741,512...17,751,626
Ensembl chr10:17,739,941...17,751,645 		JBrowse link
G Ntf3 neurotrophin 3 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:11580868 RGD:1358755 NCBI chr 4:158,914,984...158,984,453
Ensembl chr 4:158,914,957...158,984,596 		JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Hydrocephalus ClinVar PMID:12181311 PMID:25292412 PMID:25741868 PMID:28334876 PMID:28639748 More... NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843 		JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Hydrocephalus ClinVar PMID:25741868 NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620 		JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Hydrocephalus ClinVar PMID:25741868 NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149 		JBrowse link
G Pomk protein-O-mannose kinase ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr16:66,085,569...66,101,360
Ensembl chr16:66,088,000...66,098,388 		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 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581 		JBrowse link
G Ppara peroxisome proliferator activated receptor alpha IEP mRNA:decreased expression:brain:Hydrocephalus-Texas (HTX, RS:0000399) vs. SD (RS:0000681) rats RGD PMID:15964663 RGD:1624238 NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:28492532 PMID:29983323 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Ranbp17 RAN binding protein 17 ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:29983323 NCBI chr10:17,800,406...18,102,947
Ensembl chr10:17,800,999...18,102,831 		JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:31474318 NCBI chr 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489 		JBrowse link
G Sgcd sarcoglycan, delta ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:29983323 NCBI chr10:31,346,480...32,328,364
Ensembl chr10:31,280,511...31,724,840 		JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27399968 NCBI chr 8:57,481,539...57,536,195
Ensembl chr 8:57,481,573...57,536,192 		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 8:110,111,097...110,214,734
Ensembl chr 8:110,111,122...110,214,720 		JBrowse link
G Sox3 SRY-box transcription factor 3 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr  X:139,308,608...139,310,687
Ensembl chr  X:139,309,329...139,310,678 		JBrowse link
G Stk36 serine/threonine kinase 36 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 9:76,176,922...76,204,423
Ensembl chr 9:76,176,920...76,204,422 		JBrowse link
G Tmem67 transmembrane protein 67 IAGP RGD PMID:30705305 PMID:15052665 RGD:14995942, RGD:15014788 NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334 		JBrowse link
G Tmem67wpk transmembrane protein 67; wpk mutant IAGP RGD PMID:30705305 PMID:15052665 RGD:14995942, RGD:15014788
G Trappc12 trafficking protein particle complex subunit 12 ISO ClinVar Annotator: match by term: Severe hydrocephalus ClinVar NCBI chr 6:45,321,496...45,386,967
Ensembl chr 6:45,321,497...45,386,952 		JBrowse link
G Trim71 tripartite motif containing 71 ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:25741868 PMID:29983323 NCBI chr 8:114,193,439...114,250,807
Ensembl chr 8:114,199,187...114,250,807 		JBrowse link
G Tubb5 tubulin, beta 5 class I ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:25741868 NCBI chr20:2,912,779...2,916,928
Ensembl chr20:2,912,778...2,916,940 		JBrowse link
G Txn1 thioredoxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31310794 NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629 		JBrowse link
G Ulk4 unc-51 like kinase 4 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 8:120,670,879...120,966,026
Ensembl chr 8:120,670,866...120,966,924 		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 chr17:61,637,258...61,703,677
Ensembl chr17:61,637,258...61,703,677 		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 chr 8:33,912,692...33,921,760
Ensembl chr 8:33,912,692...33,921,760 		JBrowse link
G Kif7 kinesin family member 7 ISO
ISS		 CTD Direct Evidence: marker/mechanism CTD
MouseDO		 PMID:21552264 NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576 		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 chr 8:33,910,461...33,918,716
Ensembl chr 8:33,911,357...33,918,714 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hydrolethalus syndrome 1		 OMIM
CTD
ClinVar		 PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 More... NCBI chr 8:33,912,692...33,921,760
Ensembl chr 8:33,912,692...33,921,760 		JBrowse link
G Kif7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576 		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 chr 8:33,910,461...33,918,716
Ensembl chr 8:33,911,357...33,918,714 		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 ClinVar Annotator: match by term: Hydrolethalus syndrome 2 OMIM
ClinVar		 PMID:16199547 PMID:19666503 PMID:21552264 PMID:21633164 PMID:25741868 More... NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576 		JBrowse link
hypomyelinating 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: Hypomyelinating leukodystrophy ClinVar PMID:25741868 PMID:28842795 NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256 		JBrowse link
G Alms1 ALMS1, centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy ClinVar PMID:17594715 PMID:24462884 PMID:25296579 PMID:25741868 PMID:26066530 More... NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005 		JBrowse link
G Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy ClinVar PMID:11704758 PMID:15136673 PMID:17646634 PMID:21307862 PMID:25089094 More... NCBI chr11:80,394,433...80,404,468
Ensembl chr11:80,394,433...80,404,419 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy ClinVar PMID:9238033 PMID:11335038 PMID:11709541 PMID:19085937 PMID:19934020 More... NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Kars1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy ClinVar PMID:25741868 PMID:28492532 PMID:28496994 PMID:33260297 PMID:34172899 NCBI chr19:39,957,846...39,976,837
Ensembl chr19:39,957,846...39,977,632 		JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy ClinVar PMID:21855841 PMID:25339210 PMID:25741868 PMID:27612211 PMID:28459997 More... NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172 		JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy ClinVar PMID:25741868 PMID:28842795 NCBI chr  X:127,694,219...127,706,378
Ensembl chr  X:127,694,964...127,706,378 		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 ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 10
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:25865492 PMID:27130255 PMID:27860360 PMID:28492532 More... NCBI chr13:92,626,462...92,630,256
Ensembl chr13:92,626,471...92,634,184 		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 ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 11
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:610060 PMID:11013442 PMID:21131976 PMID:22563501 PMID:22855961 More... NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852 		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 ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 12
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:26307567 PMID:27120463 PMID:28492532 PMID:32316234 NCBI chr 8:44,684,129...44,698,568
Ensembl chr 8:44,684,127...44,698,568 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 13		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:26545878 PMID:28492532 PMID:31912665 NCBI chr 1:143,825,399...143,849,361
Ensembl chr 1:143,825,923...143,849,363 		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 ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 14 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28931644 PMID:29868776 PMID:32860008 More... NCBI chr 2:137,969,476...137,977,620
Ensembl chr 2:137,966,678...137,978,089
Ensembl chr 2:137,966,678...137,978,089 		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 ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 15 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29576217 NCBI chr13:96,901,548...96,971,966
Ensembl chr13:96,901,575...96,971,966 		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 ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 16 OMIM
ClinVar		 PMID:10338095 PMID:10737981 PMID:16941474 PMID:17309651 PMID:25741868 More... NCBI chr 4:41,328,125...41,347,315
Ensembl chr 4:41,327,994...41,345,619 		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 ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 17 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29215095 NCBI chr12:10,701,194...10,710,772
Ensembl chr12:10,701,194...10,710,769 		JBrowse link
G Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 17 ClinVar PMID:25741868 NCBI chr12:10,710,771...10,744,597
Ensembl chr12:10,705,874...10,744,573 		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 ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 18 OMIM
ClinVar		 PMID:25741868 PMID:30620337 PMID:30620338 PMID:31186544 NCBI chr13:93,946,154...93,953,677
Ensembl chr13:93,946,157...93,953,664 		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 ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 19, transient infantile | ClinVar Annotator: match by term: TMEM63A-related condition OMIM
ClinVar		 PMID:25741868 PMID:31587869 PMID:33785861 NCBI chr13:92,662,872...92,696,186
Ensembl chr13:92,663,968...92,696,183 		JBrowse link
hypomyelinating leukodystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gcdh glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2 ClinVar PMID:8900227 PMID:10699052 PMID:11854167 PMID:15505393 PMID:16602100 More... NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681 		JBrowse link
G Gjc2 gap junction protein, gamma 2 ISO
ISS		 ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2 | ClinVar Annotator: match by term: PELIZAEUS-MERZBACHER-LIKE DISEASE, 1
OMIM:608804
DNA:mutations:multiple (human)
DNA:missense mutation, frameshift mutations:cds:p.G236S, p.P131fs144X, p.L281fs285X (human)
DNA:missense mutation:cds:p.M282T (mouse)
DNA:snp:5' utr:c.-167A>G (human)
DNA:missense mutations, nonsense mutation, frameshift mutation:cds:multiple (human)
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:8733901 PMID:15192806 PMID:16969684 PMID:17031678 PMID:17344063 More... RGD:13208581, RGD:13208580, RGD:13208533, RGD:13208526, RGD:13208525 NCBI chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467 		JBrowse link
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2 ClinVar PMID:15968592 PMID:21073448 PMID:25356970 PMID:25741868 PMID:28492532 More... NCBI chr11:83,578,479...83,608,953
Ensembl chr11:83,578,489...83,608,958 		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 ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 20 OMIM
ClinVar		 PMID:25741868 PMID:32128616 NCBI chr10:85,511,164...85,517,723
Ensembl chr10:85,511,160...85,517,720 		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 ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 21 OMIM
ClinVar		 PMID:25741868 PMID:30584594 NCBI chr 3:168,982,846...168,987,043
Ensembl chr 3:168,982,812...168,987,040 		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 ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 22 OMIM
ClinVar		 PMID:25741868 PMID:33313762 NCBI chr 2:112,207,745...112,221,050
Ensembl chr 2:112,207,745...112,221,050 		JBrowse link
hypomyelinating leukodystrophy 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf220 ring finger protein 220 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy OMIM
ClinVar		 PMID:10881263 PMID:33964137 PMID:36083980 NCBI chr 5:130,739,173...130,961,386
Ensembl chr 5:130,739,183...130,961,418 		JBrowse link
hypomyelinating leukodystrophy 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp11a ATPase phospholipid transporting 11A ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 24 OMIM
ClinVar		 PMID:34403372 NCBI chr16:76,657,752...76,767,640
Ensembl chr16:76,657,752...76,767,640 		JBrowse link
hypomyelinating leukodystrophy 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem163 transmembrane protein 163 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 25 OMIM
ClinVar		 PMID:25741868 PMID:35455965 PMID:35953447 NCBI chr13:38,967,913...39,141,664
Ensembl chr13:38,968,101...39,141,452 		JBrowse link
hypomyelinating leukodystrophy 26 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 ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 26, with chondrodysplasia ClinVar PMID:35325049 NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852 		JBrowse link
G Slc35b2 solute carrier family 35 member B2 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 26, with chondrodysplasia ClinVar
OMIM		 PMID:35325049 NCBI chr 9:15,438,594...15,442,227
Ensembl chr 9:15,438,594...15,442,234 		JBrowse link
Hypomyelinating Leukodystrophy 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1a RNA polymerase I subunit A ISO OMIM NCBI chr 4:103,950,051...104,014,022
Ensembl chr 4:103,950,051...104,014,020 		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 ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 3
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:21092922 PMID:23806086 PMID:24088041 PMID:24958424 PMID:25741868 More... NCBI chr 2:221,151,907...221,175,458
Ensembl chr 2:221,151,904...221,175,728 		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 ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 4
DNA:mutation:exon: g.1512A>G(p.D29G)(human)
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:18571143 PMID:24033266 PMID:25741868 PMID:27405012 PMID:28492532 More... RGD:12910473 NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662 		JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 4 ClinVar PMID:29389947 NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172 		JBrowse link
hypomyelinating leukodystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdca7l cell division cycle associated 7 like ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr 6:138,793,953...138,839,889
Ensembl chr 6:138,794,228...138,839,888 		JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536 		JBrowse link
G Hycc1 hyccin PI4KA lipid kinase complex subunit 1 ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:16951682 PMID:17576681 PMID:17683097 More... NCBI chr 4:11,132,224...11,239,120
Ensembl chr 4:11,132,385...11,239,113 		JBrowse link
G Il6 interleukin 6 ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Rapgef5 Rap guanine nucleotide exchange factor 5 ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr 6:138,445,184...138,679,943
Ensembl chr 6:138,437,991...138,679,936 		JBrowse link
G Sp4 Sp4 transcription factor ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr 6:139,187,458...139,252,741
Ensembl chr 6:139,192,147...139,252,126 		JBrowse link
G Tomm7 translocase of outer mitochondrial membrane 7 ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr 4:11,305,122...11,311,963
Ensembl chr 4:11,305,110...11,311,962 		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
ISS		 ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 6 | ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM
OMIM:612438		 OMIM
ClinVar
MouseDO		 PMID:3156966 PMID:3405308 PMID:7983175 PMID:16707859 PMID:18466252 More... NCBI chr 9:1,917,841...1,925,286
Ensembl chr 9:1,917,845...1,925,291 		JBrowse link
hypomyelinating leukodystrophy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: 4h syndrome ClinVar PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311375 More... NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775 		JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: 4h syndrome ClinVar PMID:15095295 PMID:21244692 PMID:22114986 PMID:22419737 PMID:22862163 More... NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286 		JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: 4h syndrome | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7 | ClinVar Annotator: match by term: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome | ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: Pol III-related leukodystrophy
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:614258 PMID:9536098 PMID:12605447 PMID:16199547 PMID:17159124 More... NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172 		JBrowse link
G Polr3b RNA polymerase III subunit B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: POLR3-related leukodystrophy | ClinVar Annotator: match by term: Pol III-related leukodystrophy		 CTD
ClinVar		 PMID:22036171 PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 More... NCBI chr 7:19,039,179...19,142,450
Ensembl chr 7:19,038,552...19,142,598 		JBrowse link
G Rps24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: Pol III-related leukodystrophy ClinVar PMID:22855961 PMID:25741868 PMID:27029625 NCBI chr16:89,538...94,267
Ensembl chr16:89,604...94,279 		JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY, HYPOMYELINATING, WITH ATAXIA AND DELAYED DENTITION ClinVar PMID:25326637 PMID:25741868 PMID:27104957 PMID:28492532 NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874 		JBrowse link
hypomyelinating leukodystrophy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mutyh mutY DNA glycosylase ISO ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 5:130,274,034...130,286,149
Ensembl chr 5:130,274,122...130,286,146 		JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome ClinVar PMID:21855841 PMID:22855961 PMID:25741868 PMID:27029625 PMID:28447407 More... NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172 		JBrowse link
G Polr3b RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18851904 PMID:22036171 More... NCBI chr 7:19,039,179...19,142,450
Ensembl chr 7:19,038,552...19,142,598 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 9		 OMIM
CTD
ClinVar		 PMID:24777941 PMID:25741868 PMID:27848944 PMID:28492532 PMID:28905880 More... NCBI chr10:20,270,744...20,295,192
Ensembl chr10:20,270,483...20,295,196 		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:25741868 More... NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114 		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 PMID:28842795 NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256 		JBrowse link
G Alms1 ALMS1, centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:17594715 PMID:24462884 PMID:25296579 PMID:25741868 PMID:26066530 More... NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005 		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 chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783 		JBrowse link
G Clcn2 chloride voltage-gated channel 2 ISS MouseDO NCBI chr11:80,197,741...80,211,657
Ensembl chr11:80,198,153...80,211,657 		JBrowse link
G Cst3 cystatin C ISO ClinVar Annotator: match by term: CST3-related Leukodystrophy ClinVar PMID:25741868 NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822 		JBrowse link
G Degs1 delta(4)-desaturase, sphingolipid 1 ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868 PMID:30620337 PMID:31186544 NCBI chr13:93,946,154...93,953,677
Ensembl chr13:93,946,157...93,953,664 		JBrowse link
G Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:11704758 PMID:15136673 PMID:17646634 PMID:21307862 PMID:25089094 More... NCBI chr11:80,394,433...80,404,468
Ensembl chr11:80,394,433...80,404,419 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:9238033 PMID:11335038 PMID:11709541 PMID:19085937 PMID:19934020 More... NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102 		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 chr 6:117,452,888...117,522,281
Ensembl chr 6:117,452,895...117,515,830 		JBrowse link
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:20363167 PMID:22789865 PMID:24767253 PMID:25606403 PMID:25741868 More... NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013 		JBrowse link
G Kars1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868 PMID:28492532 PMID:28496994 PMID:33260297 PMID:34172899 NCBI chr19:39,957,846...39,976,837
Ensembl chr19:39,957,846...39,977,632 		JBrowse link
G Lsm7 LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar NCBI chr 7:8,856,698...8,859,113
Ensembl chr 7:8,856,489...8,859,119 		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 chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868 NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303 		JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:16007586 PMID:16199547 PMID:17159124 PMID:19938095 PMID:21855841 More... NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172 		JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868 PMID:28842795 NCBI chr  X:127,694,219...127,706,378
Ensembl chr  X:127,694,964...127,706,378 		JBrowse link
G Scp2 sterol carrier protein 2 ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868 NCBI chr 5:122,806,949...122,881,259
Ensembl chr 5:122,776,549...122,881,287 		JBrowse link
G Tmem63a transmembrane protein 63a ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868 PMID:31587869 NCBI chr13:92,662,872...92,696,186
Ensembl chr13:92,663,968...92,696,183 		JBrowse link
G U2af2 U2 small nuclear RNA auxiliary factor 2 ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar NCBI chr 1:68,760,911...68,779,730
Ensembl chr 1:68,760,924...68,778,492 		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 chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750 		JBrowse link
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leukodystrophy and acquired microcephaly with or without dystonia		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:26573021 PMID:28492532 PMID:34326120 NCBI chr 1:83,651,902...83,665,063
Ensembl chr 1:83,647,748...83,665,063 		JBrowse link
leukoencephalopathy with vanishing white matter term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankle2 ankyrin repeat and LEM domain containing 2 ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter ClinVar PMID:25741868 NCBI chr12:46,418,142...46,451,304
Ensembl chr12:46,417,759...46,500,514 		JBrowse link
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:135,145,447...135,264,636
Ensembl chr  X:135,146,786...135,275,304 		JBrowse link
G Eif2b1 eukaryotic translation initiation factor 2B subunit alpha ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter		 CTD
ClinVar		 PMID:11835386 PMID:15776425 PMID:16199547 PMID:16807905 PMID:18263758 More... NCBI chr12:32,025,593...32,033,848
Ensembl chr12:32,025,557...32,046,601 		JBrowse link
G Eif2b2 eukaryotic translation initiation factor 2B subunit beta ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:11704758 PMID:12707859 PMID:14566705 PMID:14993275 PMID:15054402 More... RGD:734925 NCBI chr 6:104,866,926...104,873,351
Ensembl chr 6:104,866,753...104,873,353 		JBrowse link
G Eif2b3 eukaryotic translation initiation factor 2B subunit gamma ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter | ClinVar Annotator: match by term: Vanishing white matter leukodystrophy ClinVar PMID:11835386 PMID:16807905 PMID:18263758 PMID:18414213 PMID:19909266 More... NCBI chr 5:130,492,167...130,558,692
Ensembl chr 5:130,492,220...130,563,332 		JBrowse link
G Eif2b4 eukaryotic translation initiation factor 2B subunit delta ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter | ClinVar Annotator: match by term: Ovarioleukodystrophy		 CTD
ClinVar
MouseDO		 PMID:11835386 PMID:12707859 PMID:15054402 PMID:15136673 PMID:15507143 More... NCBI chr 6:25,183,177...25,188,832
Ensembl chr 6:25,183,186...25,188,829 		JBrowse link
G Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon ISO
ISS		 ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:11704758 PMID:12325082 PMID:12499492 PMID:12707859 PMID:14566705 More... RGD:734925 NCBI chr11:80,394,433...80,404,468
Ensembl chr11:80,394,433...80,404,419 		JBrowse link
G Mlh3 mutL homolog 3 ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter ClinVar PMID:25741868 NCBI chr 6:104,881,483...104,917,686
Ensembl chr 6:104,881,483...104,917,728 		JBrowse link
leukoencephalopathy with vanishing white matter 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2b1 eukaryotic translation initiation factor 2B subunit alpha ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 1 OMIM
ClinVar		 PMID:9536098 PMID:11835386 PMID:16199547 PMID:17576681 PMID:25741868 More... NCBI chr12:32,025,593...32,033,848
Ensembl chr12:32,025,557...32,046,601 		JBrowse link
G Eif2b3 eukaryotic translation initiation factor 2B subunit gamma ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 1 ClinVar PMID:25741868 PMID:28492532 PMID:31072091 NCBI chr 5:130,492,167...130,558,692
Ensembl chr 5:130,492,220...130,563,332 		JBrowse link
G Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 1 ClinVar PMID:11704758 PMID:14993275 PMID:15136673 PMID:15776425 PMID:16864840 More... NCBI chr11:80,394,433...80,404,468
Ensembl chr11:80,394,433...80,404,419 		JBrowse link
leukoencephalopathy with vanishing white matter 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2b2 eukaryotic translation initiation factor 2B subunit beta ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 2 OMIM
ClinVar		 PMID:11704758 PMID:12707859 PMID:14566705 PMID:14993275 PMID:15054402 More... NCBI chr 6:104,866,926...104,873,351
Ensembl chr 6:104,866,753...104,873,353 		JBrowse link
leukoencephalopathy with vanishing white matter 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2b3 eukaryotic translation initiation factor 2B subunit gamma ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 3 OMIM
ClinVar		 PMID:11835386 PMID:15776425 PMID:18263758 PMID:19158808 PMID:20301435 More... NCBI chr 5:130,492,167...130,558,692
Ensembl chr 5:130,492,220...130,563,332 		JBrowse link
leukoencephalopathy with vanishing white matter 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2b4 eukaryotic translation initiation factor 2B subunit delta ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 4 OMIM
ClinVar		 PMID:11835386 PMID:15054402 PMID:15136673 PMID:15507143 PMID:15776425 More... NCBI chr 6:25,183,177...25,188,832
Ensembl chr 6:25,183,186...25,188,829 		JBrowse link
leukoencephalopathy with vanishing white matter 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2b1 eukaryotic translation initiation factor 2B subunit alpha ISO ClinVar Annotator: match by term: Cree leukoencephalopathy ClinVar PMID:11835386 PMID:16199547 PMID:25741868 PMID:28492532 NCBI chr12:32,025,593...32,033,848
Ensembl chr12:32,025,557...32,046,601 		JBrowse link
G Eif2b3 eukaryotic translation initiation factor 2B subunit gamma ISO ClinVar Annotator: match by term: Cree leukoencephalopathy ClinVar PMID:25741868 PMID:28492532 PMID:31072091 NCBI chr 5:130,492,167...130,558,692
Ensembl chr 5:130,492,220...130,563,332 		JBrowse link
G Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon ISO ClinVar Annotator: match by term: Cree leukoencephalopathy | ClinVar Annotator: match by term: EIF2B5-related condition | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 5 OMIM
ClinVar		 PMID:11704758 PMID:12325082 PMID:12499492 PMID:12707859 PMID:14694060 More... NCBI chr11:80,394,433...80,404,468
Ensembl chr11:80,394,433...80,404,419 		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 ClinVar Annotator: match by term: Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia | ClinVar Annotator: match by term: Meckel syndrome type 7
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:12872122 PMID:17576681 PMID:17855640 PMID:18371931 More... NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383 		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
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts		 CTD
MouseDO
ClinVar		 PMID:21419380 PMID:25741868 PMID:28492532 NCBI chr 8:37,087,864...37,106,759
Ensembl chr 8:37,087,857...37,105,920 		JBrowse link
G Mlc1 modulator of VRAC current 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leukoencephalopathy with swelling and cysts | ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts		 CTD
ClinVar		 PMID:11254442 PMID:11935341 PMID:12189496 PMID:12497630 PMID:12850517 More... NCBI chr 7:120,046,705...120,067,049
Ensembl chr 7:120,046,705...120,067,049 		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 Gstt2 glutathione S-transferase theta 2 ISO ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 ClinVar PMID:25741868 NCBI chr20:12,819,617...12,823,288
Ensembl chr20:12,819,170...12,823,288 		JBrowse link
G Hepacam hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 ClinVar PMID:25741868 PMID:28492532 PMID:29389947 PMID:29915382 NCBI chr 8:37,087,864...37,106,759
Ensembl chr 8:37,087,857...37,105,920 		JBrowse link
G Mlc1 modulator of VRAC current 1 ISO
ISS		 ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 | ClinVar Annotator: match by term: VAN DER KNAAP DISEASE
OMIM:604004		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:11254442 PMID:11935341 PMID:12189496 PMID:12497630 More... NCBI chr 7:120,046,705...120,067,049
Ensembl chr 7:120,046,705...120,067,049 		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 ClinVar Annotator: match by term: HEPACAM-related condition | ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2A OMIM
ClinVar		 PMID:21419380 PMID:25044933 PMID:25741868 PMID:26633542 PMID:28492532 More... NCBI chr 8:37,087,864...37,106,759
Ensembl chr 8:37,087,857...37,105,920 		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 ClinVar Annotator: match by term: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:20517947 PMID:21419380 PMID:24202401 PMID:25044933 PMID:25741868 More... NCBI chr 8:37,087,864...37,106,759
Ensembl chr 8:37,087,857...37,105,920 		JBrowse link
Megalencephalic Leukoencephalopathy with Subcortical Cysts 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gprc5b G protein-coupled receptor, class C, group 5, member B ISO ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 3 OMIM
ClinVar		 PMID:37143309 NCBI chr 1:173,316,904...173,340,933
Ensembl chr 1:173,316,907...173,340,932 		JBrowse link
Megalencephalic Leukoencephalopathy with Subcortical Cysts 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 ISO ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting OMIM
ClinVar		 PMID:25741868 PMID:37143309 NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856 		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 chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708 		JBrowse link
G Ccnd2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24705253 PMID:29642246 NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22729224 NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MEGALENCEPHALY, MEGA CORPUS CALLOSUM, AND COMPLETE LACK OF MOTOR DEVELOPMENT | ClinVar Annotator: match by term: MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME		 CTD
ClinVar		 PMID:9536098 PMID:16357568 PMID:17576681 PMID:21984976 PMID:22729224 More... NCBI chr16:18,665,517...18,674,067
Ensembl chr16:18,665,457...18,674,065 		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 Armc6 armadillo repeat containing 6 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:19,191,106...19,201,528
Ensembl chr16:19,191,093...19,206,047 		JBrowse link
G Arrdc2 arrestin domain containing 2 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,601,897...18,606,029
Ensembl chr16:18,601,897...18,606,029 		JBrowse link
G Borcs8 BLOC-1 related complex subunit 8 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:19,274,305...19,280,969
Ensembl chr16:19,274,023...19,280,339 		JBrowse link
G Ccdc124 coiled-coil domain containing 124 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,566,745...18,572,564
Ensembl chr16:18,566,745...18,572,564 		JBrowse link
G Ccnd2 cyclin D2 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:25741868 NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495 		JBrowse link
G Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,104,466...19,112,519 		JBrowse link
G Comp cartilage oligomeric matrix protein ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:19,047,206...19,055,584
Ensembl chr16:19,047,207...19,055,845 		JBrowse link
G Cope COPI coat complex subunit epsilon ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:19,114,871...19,125,076
Ensembl chr16:19,114,871...19,128,907 		JBrowse link
G Crlf1 cytokine receptor-like factor 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,924,722...18,936,049
Ensembl chr16:18,924,722...18,935,997 		JBrowse link
G Crtc1 CREB regulated transcription coactivator 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,988,197...19,046,914
Ensembl chr16:18,988,250...19,043,381 		JBrowse link
G Ddx49 DEAD-box helicase 49 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:19,125,388...19,133,042
Ensembl chr16:19,125,384...19,133,616 		JBrowse link
G Ell elongation factor for RNA polymerase II ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,843,775...18,891,484
Ensembl chr16:18,843,780...18,891,118 		JBrowse link
G Fkbp8 FKBP prolyl isomerase 8 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,895,608...18,902,648
Ensembl chr16:18,893,576...18,902,612 		JBrowse link
G Gdf1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,097,314...19,112,519 		JBrowse link
G Gdf15 growth differentiation factor 15 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,804,457...18,808,043
Ensembl chr16:18,805,239...18,808,055 		JBrowse link
G Homer3 homer scaffold protein 3 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:19,132,177...19,142,739
Ensembl chr16:19,132,162...19,142,680 		JBrowse link
G Ifi30 IFI30, lysosomal thiol reductase ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,675,590...18,679,655
Ensembl chr16:18,675,613...18,681,175 		JBrowse link
G Il12rb1 interleukin 12 receptor subunit beta 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,620,228...18,633,207
Ensembl chr16:18,620,770...18,632,769 		JBrowse link
G Insl3 insulin-like 3 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,398,682...18,400,566
Ensembl chr16:18,384,829...18,400,560 		JBrowse link
G Iqcn IQ motif containing N ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,716,519...18,733,971
Ensembl chr16:18,716,519...18,726,261 		JBrowse link
G Isyna1 inositol-3-phosphate synthase 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,839,143...18,841,979
Ensembl chr16:18,839,145...18,841,979 		JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536 		JBrowse link
G Jund JunD proto-oncogene, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,734,121...18,735,799
Ensembl chr16:18,734,122...18,735,799 		JBrowse link
G Kcnn1 potassium calcium-activated channel subfamily N member 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,574,858...18,598,585
Ensembl chr16:18,585,992...18,597,482 		JBrowse link
G Klhl26 kelch-like family member 26 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,952,123...18,977,328
Ensembl chr16:18,952,234...18,977,328 		JBrowse link
G Kxd1 KxDL motif containing 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,895,343...18,916,266
Ensembl chr16:18,900,616...18,920,807 		JBrowse link
G Lrrc25 leucine rich repeat containing 25 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,806,888...18,813,723
Ensembl chr16:18,806,890...18,813,671 		JBrowse link
G Lsm4 LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,755,481...18,761,106
Ensembl chr16:18,755,484...18,760,926 		JBrowse link
G Mast3 microtubule associated serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,636,764...18,663,852
Ensembl chr16:18,636,787...18,663,852 		JBrowse link
G Mef2b myocyte enhancer factor 2B ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:19,253,008...19,269,514
Ensembl chr16:19,253,010...19,268,967 		JBrowse link
G Mpv17l2 MPV17 mitochondrial inner membrane protein like 2 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,680,106...18,684,212
Ensembl chr16:18,681,826...18,684,212 		JBrowse link
G Nr2c2ap nuclear receptor 2C2-associated protein ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:19,288,454...19,290,940
Ensembl chr16:19,288,454...19,290,719 		JBrowse link
G Pde4c phosphodiesterase 4C ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,690,727...18,711,555
Ensembl chr16:18,691,700...18,710,640 		JBrowse link
G Pgpep1 pyroglutamyl-peptidase I ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,770,563...18,782,968
Ensembl chr16:18,771,021...18,783,478 		JBrowse link
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:16357568 PMID:17576681 PMID:17675034 PMID:21984976 More... NCBI chr16:18,665,517...18,674,067
Ensembl chr16:18,665,457...18,674,065 		JBrowse link
G Rab3a RAB3A, member RAS oncogene family ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,684,185...18,688,297
Ensembl chr16:18,684,188...18,688,336 		JBrowse link
G Rex1bd required for excision 1-B domain containing ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,922,050...18,924,521
Ensembl chr16:18,922,037...18,924,526 		JBrowse link
G Rfxank regulatory factor X-associated ankyrin-containing protein ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:19,280,857...19,288,886
Ensembl chr16:19,281,475...19,460,255 		JBrowse link
G Rpl18a ribosomal protein L18A ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,542,555...18,544,578
Ensembl chr16:18,542,566...18,545,546 		JBrowse link
G Slc25a42 solute carrier family 25, member 42 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:19,213,914...19,251,990
Ensembl chr16:19,213,950...19,237,025 		JBrowse link
G Slc5a5 solute carrier family 5 member 5 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,546,709...18,556,698
Ensembl chr16:18,546,709...18,556,697 		JBrowse link
G Ssbp4 single stranded DNA binding protein 4 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,828,014...18,838,941
Ensembl chr16:18,828,054...18,838,947 		JBrowse link
G Sugp2 SURP and G patch domain containing 2 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:19,159,951...19,191,412
Ensembl chr16:19,164,767...19,191,340 		JBrowse link
G Tmem161a transmembrane protein 161A ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:19,237,638...19,248,151
Ensembl chr16:19,238,487...19,248,087 		JBrowse link
G Tmem59l transmembrane protein 59-like ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,941,370...18,945,381
Ensembl chr16:18,941,567...18,945,381 		JBrowse link
G Uba52 ubiquitin A-52 residue ribosomal protein fusion product 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:18,918,614...18,920,807
Ensembl chr16:18,900,616...18,920,807 		JBrowse link
G Upf1 UPF1, RNA helicase and ATPase ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr16:19,076,594...19,097,365
Ensembl chr16:19,076,322...19,096,568 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:25741868 NCBI chr 3:29,214,581...29,344,890
Ensembl chr 3:29,218,301...29,345,157 		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 ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18813315 PMID:22500628 PMID:22729223 More... NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708 		JBrowse link
G Cep170 centrosomal protein 170 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr13:88,669,672...88,754,011
Ensembl chr13:88,670,358...88,732,226 		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 chr13:87,895,694...88,232,868
Ensembl chr13:87,896,369...88,232,868 		JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:22729224 PMID:23745724 PMID:24705253 PMID:25087610 PMID:28492532 NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111 		JBrowse link
G Spmip3 sperm microtubule inner protein 3 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr13:89,740,464...89,771,505
Ensembl chr13:89,742,831...89,763,817 		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 chr13:89,439,501...89,447,958
Ensembl chr13:89,439,420...89,448,862 		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 ClinVar Annotator: match by term: CCND2-related condition | ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 OMIM
ClinVar		 PMID:17486076 PMID:24705253 PMID:25741868 PMID:26795593 PMID:28492532 More... NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495 		JBrowse link
neuroaxonal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Borcs7 BLOC-1 related complex subunit 7 ISS MouseDO NCBI chr 1:245,564,347...245,578,182
Ensembl chr 1:245,564,369...245,579,343 		JBrowse link
G Ireb2 iron responsive element binding protein 2 ISO protein:increased expression:brain (mouse) RGD PMID:26506412 RGD:11344088 NCBI chr 8:55,228,080...55,311,613
Ensembl chr 8:55,228,085...55,311,611 		JBrowse link
G Naga alpha-N-acetylgalactosaminidase ISO Schindler disease, OMIM:609241, DNA:point mutation:exon:E325K
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:2243144 PMID:2243144 RGD:1600557 NCBI chr 7:113,846,358...113,855,430
Ensembl chr 7:113,846,374...113,855,315 		JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Neuroaxonal dystrophy, late infantile ClinVar PMID:11479594 PMID:12510040 PMID:15911822 PMID:16149094 PMID:16437574 More... NCBI chr 3:118,483,382...118,519,551
Ensembl chr 3:118,483,444...118,518,320 		JBrowse link
G Pla2g6 phospholipase A2 group VI ISO DNA:insertion:intron (mouse)
DNA:deletion:cds:p.V691del (human)
DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple
DNA:point mutation:cds		 RGD PMID:22442204 PMID:17033970 PMID:18305254 PMID:19138334 PMID:19893029 RGD:6482732, RGD:6482740, RGD:6482739, RGD:6482736, RGD:6482735 NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114 		JBrowse link
G Tecpr2 tectonin beta-propeller repeat containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26555167 NCBI chr 6:129,899,541...130,001,975
Ensembl chr 6:129,899,636...130,001,974 		JBrowse link
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO DNA:deletion RGD PMID:11555633 RGD:1302546 NCBI chr14:41,485,031...41,495,590
Ensembl chr14:41,485,031...41,495,590 		JBrowse link
G Uchl3 ubiquitin C-terminal hydrolase L3 ISO RGD PMID:11555633 RGD:1302546 NCBI chr15:78,485,304...78,527,355
Ensembl chr15:78,485,315...78,527,355
Ensembl chr 3:78,485,315...78,527,355 		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 9:15,484,639...15,496,116
Ensembl chr 9:15,297,531...15,496,090 		JBrowse link
G Atp13a2 ATPase cation transporting 13A2 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:16199547 PMID:16964263 PMID:20683840 PMID:21060012 PMID:21665991 More... NCBI chr 5:153,292,722...153,312,143
Ensembl chr 5:153,292,751...153,312,139 		JBrowse link
G C1h19orf12 similar to human chromosome 19 open reading frame 12 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:21981780 PMID:22584950 PMID:23269600 PMID:23436634 PMID:23494994 More... NCBI chr 1:90,873,578...90,887,205
Ensembl chr 1:90,873,549...90,886,208 		JBrowse link
G Coasy Coenzyme A synthase ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:21264299 PMID:24360804 PMID:25741868 PMID:27021474 PMID:28357284 More... NCBI chr10:86,014,566...86,018,849
Ensembl chr10:86,014,597...86,018,841 		JBrowse link
G Cp ceruloplasmin ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:16629161 PMID:25741868 PMID:28492532 PMID:30901137 PMID:32235485 More... NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075 		JBrowse link
G Crat carnitine O-acetyltransferase ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:25741868 PMID:28492532 PMID:29395073 NCBI chr 3:13,675,684...13,689,282
Ensembl chr 3:13,675,684...13,689,255 		JBrowse link
G Dcaf17 DDB1 and CUL4 associated factor 17 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar NCBI chr 3:55,863,776...55,895,601
Ensembl chr 3:55,863,799...55,891,820 		JBrowse link
G Fa2h fatty acid 2-hydroxylase ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:20853438 PMID:25741868 PMID:27217339 PMID:27316240 PMID:28492532 More... NCBI chr19:39,312,904...39,364,153
Ensembl chr19:39,312,906...39,364,153 		JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047 		JBrowse link
G Pank2 pantothenate kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20629144 NCBI chr 3:118,483,382...118,519,551
Ensembl chr 3:118,483,444...118,518,320 		JBrowse link
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Iron accumulation in brain | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:2668131 PMID:16199547 PMID:16783378 PMID:17033970 PMID:18359254 More... NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114 		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 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852 		JBrowse link
G Reps1 RALBP1 associated Eps domain containing 1 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:29395073 NCBI chr 1:12,697,742...12,775,562
Ensembl chr 1:12,697,747...12,775,561 		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:16199547 PMID:23176820 PMID:23435086 PMID:24368176 PMID:24621584 More... NCBI chr  X:14,776,280...14,782,202
Ensembl chr  X:14,776,293...14,782,202 		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 Ankrd54 ankyrin repeat domain 54 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,614,942...110,627,739
Ensembl chr 7:110,614,951...110,627,675 		JBrowse link
G Baiap2l2 BAR/IMD domain containing adaptor protein 2 like 2 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,824,370...110,850,702
Ensembl chr 7:110,824,375...110,850,702 		JBrowse link
G C1qtnf6 C1q and TNF related 6 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,077,867...110,084,584
Ensembl chr 7:110,077,878...110,084,412 		JBrowse link
G C7h22orf23 similar to human chromosome 22 open reading frame 23 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,704,894...110,712,485
Ensembl chr 7:110,704,894...110,712,487 		JBrowse link
G Card10 caspase recruitment domain family, member 10 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,330,460...110,371,551
Ensembl chr 7:110,330,408...110,359,224 		JBrowse link
G Cby1 chibby 1, beta catenin antagonist ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,216,835...111,223,305 JBrowse link
G Cdc42ep1 CDC42 effector protein 1 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,395,287...110,403,203
Ensembl chr 7:110,395,332...110,403,200 		JBrowse link
G Cimip4 ciliary microtubule inner protein 4 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:109,928,165...109,944,994
Ensembl chr 7:109,928,173...109,947,072 		JBrowse link
G Csf2rb colony stimulating factor 2 receptor subunit beta ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:109,876,919...109,901,589
Ensembl chr 7:109,886,425...109,904,157 		JBrowse link
G Csnk1e casein kinase 1, epsilon ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,983,322...111,006,926
Ensembl chr 7:110,983,318...111,006,794 		JBrowse link
G Cyth4 cytohesin 4 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,152,232...110,176,726
Ensembl chr 7:110,152,272...110,176,741 		JBrowse link
G Ddx17 DEAD-box helicase 17 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,091,127...111,109,353
Ensembl chr 7:111,089,445...111,109,193 		JBrowse link
G Dmc1 DNA meiotic recombinase 1 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,124,888...111,167,465
Ensembl chr 7:111,124,888...111,167,952 		JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy 1 ClinVar PMID:11727201 PMID:12673792 PMID:12955720 PMID:16385454 PMID:16783378 More... NCBI chr 8:20,342,430...20,394,660
Ensembl chr 8:20,342,089...20,394,552 		JBrowse link
G Eif3l eukaryotic translation initiation factor 3, subunit L ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,652,565...110,663,614
Ensembl chr 7:110,627,107...110,663,614 		JBrowse link
G Elfn2 extracellular leucine-rich repeat and fibronectin type III domain containing 2 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,220,293...110,272,770
Ensembl chr 7:110,225,919...110,272,433 		JBrowse link
G Fam227a family with sequence similarity 227, member A ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,174,362...111,216,513
Ensembl chr 7:111,174,362...111,216,483 		JBrowse link
G Galr3 galanin receptor 3 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,603,525...110,608,429
Ensembl chr 7:110,605,226...110,607,685 		JBrowse link
G Gcat glycine C-acetyltransferase ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,595,126...110,601,474
Ensembl chr 7:110,595,091...110,601,473 		JBrowse link
G Gga1 golgi associated, gamma adaptin ear containing, ARF binding protein 1 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,436,071...110,451,790
Ensembl chr 7:110,435,062...110,451,789 		JBrowse link
G Gtpbp1 GTP binding protein 1 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,248,254...111,272,705
Ensembl chr 7:111,248,254...111,272,705 		JBrowse link
G H1f0 H1.0 linker histone ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,592,834...110,594,694
Ensembl chr 7:110,592,208...110,594,694 		JBrowse link
G Ift27 intraflagellar transport 27 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:109,738,622...109,754,416
Ensembl chr 7:109,738,622...109,754,416 		JBrowse link
G Il2rb interleukin 2 receptor subunit beta ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,033,341...110,048,054
Ensembl chr 7:110,033,341...110,048,054 		JBrowse link
G Josd1 Josephin domain containing 1 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,230,318...111,244,241
Ensembl chr 7:111,230,318...111,244,652 		JBrowse link
G Kcnj4 potassium inwardly-rectifying channel, subfamily J, member 4 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,047,097...111,074,151
Ensembl chr 7:111,047,094...111,074,151 		JBrowse link
G Kctd17 potassium channel tetramerization domain containing 17 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:109,979,060...110,009,091
Ensembl chr 7:109,979,060...110,008,927 		JBrowse link
G Kdelr3 KDEL endoplasmic reticulum protein retention receptor 3 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,079,236...111,089,463
Ensembl chr 7:111,079,218...111,101,600 		JBrowse link
G Lgals1 galectin 1 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,485,239...110,488,345
Ensembl chr 7:110,481,392...110,488,345 		JBrowse link
G Lgals2 galectin 2 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,403,171...110,410,046
Ensembl chr 7:110,403,173...110,404,802 		JBrowse link
G Maff MAF bZIP transcription factor F ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,912,367...110,923,711
Ensembl chr 7:110,912,499...110,923,851 		JBrowse link
G Mfng MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,310,810...110,328,653
Ensembl chr 7:110,310,812...110,328,653 		JBrowse link
G Micall1 MICAL-like 1 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,676,706...110,707,171
Ensembl chr 7:110,676,775...110,707,177 		JBrowse link
G Mpst mercaptopyruvate sulfurtransferase ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:109,955,581...109,963,155
Ensembl chr 7:109,955,675...109,963,141 		JBrowse link
G Ncf4 neutrophil cytosolic factor 4 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:109,825,420...109,843,389
Ensembl chr 7:109,826,020...109,843,389 		JBrowse link
G Nol12 nucleolar protein 12 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,493,294...110,498,908
Ensembl chr 7:110,493,246...110,498,907 		JBrowse link
G Pdxp pyridoxal phosphatase ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,472,515...110,477,963
Ensembl chr 7:110,472,515...110,477,963 		JBrowse link
G Pick1 protein interacting with PRKCA 1 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,796,623...110,816,850
Ensembl chr 7:110,797,117...110,816,848 		JBrowse link
G Pla2g6 phospholipase A2 group VI ISO
ISS		 ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy | ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy 1 | ClinVar Annotator: match by term: PLA2G6-associated neurodegeneration | ClinVar Annotator: match by term: Seitelberger disease
OMIM:256600
CTD Direct Evidence: marker/mechanism
DNA:deletions, missense mutations, nonsense mutation: exon:multiple		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:2668131 PMID:9536098 PMID:16199547 PMID:16783378 PMID:17033970 More... RGD:12910703 NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114 		JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234 		JBrowse link
G Pvalb parvalbumin ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:109,772,939...109,787,954
Ensembl chr 7:109,772,593...109,784,561 		JBrowse link
G Rac2 Rac family small GTPase 2 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,101,344...110,128,718
Ensembl chr 7:110,116,260...110,128,720 		JBrowse link
G Sh3bp1 SH3-domain binding protein 1 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,457,626...110,470,201
Ensembl chr 7:110,457,710...110,470,201 		JBrowse link
G Slc16a8 solute carrier family 16 member 8 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,818,274...110,822,069
Ensembl chr 7:110,818,274...110,822,069 		JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544 		JBrowse link
G Sstr3 somatostatin receptor 3 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,092,563...110,109,043
Ensembl chr 7:110,092,575...110,099,769 		JBrowse link
G Sun2 Sad1 and UNC84 domain containing 2 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,275,374...111,292,565
Ensembl chr 7:111,275,380...111,292,553 		JBrowse link
G Tmem184b transmembrane protein 184B ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,925,092...110,967,975
Ensembl chr 7:110,925,092...110,967,943 		JBrowse link
G Tmprss6 transmembrane serine protease 6 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:109,991,008...110,021,626
Ensembl chr 7:109,985,931...110,021,624 		JBrowse link
G Tomm22 translocase of outer mitochondrial membrane 22 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:111,223,508...111,228,671
Ensembl chr 7:111,216,571...111,246,799 		JBrowse link
G Triobp TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,505,916...110,569,301
Ensembl chr 7:110,506,248...110,562,474 		JBrowse link
G Tst thiosulfate sulfurtransferase ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:109,948,061...109,955,378
Ensembl chr 7:109,948,062...109,957,216 		JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy 1 ClinVar PMID:16783378 PMID:20301718 PMID:23861362 PMID:24033266 PMID:25741868 More... NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,265,815...3,355,606 		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 ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION, PLA2G6-RELATED | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 2B | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 2b
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2668131 PMID:16199547 PMID:16783378 PMID:17033970 PMID:18359254 More... NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114 		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 Ftl1 ferritin light chain 1 ISO DNA:insertion:exon:460_461insA(human)
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 3 | ClinVar Annotator: match by term: Neuroferritinopathy
CTD Direct Evidence: marker/mechanism
DNA:mutations:exon:
DNA:duplication:cds:458dupA(human)		 ClinVar
CTD
OMIM
RGD		 PMID:9414300 PMID:11438811 PMID:12746423 PMID:14662596 PMID:16116125 More... RGD:5509859, RGD:5509861, RGD:5509860 NCBI chr 1:95,936,387...95,938,234
Ensembl chr 1:95,936,387...95,939,725
Ensembl chr10:95,936,387...95,939,725 		JBrowse link
G Gys1 glycogen synthase 1 ISO ClinVar Annotator: match by term: Neuroferritinopathy ClinVar PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 1:95,915,443...95,935,292
Ensembl chr 1:95,915,443...95,935,292 		JBrowse link
neurodegeneration with brain iron accumulation 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1h19orf12 similar to human chromosome 19 open reading frame 12 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:20039086 PMID:21981780 More... NCBI chr 1:90,873,578...90,887,205
Ensembl chr 1:90,873,549...90,886,208 		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 Akap4 A-kinase anchoring protein 4 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:15,435,391...15,445,684
Ensembl chr  X:15,435,410...15,445,684 		JBrowse link
G Araf A-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:1,227,392...1,292,356
Ensembl chr  X:1,227,392...1,239,073 		JBrowse link
G Bmp15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:16,169,123...16,174,187
Ensembl chr  X:16,169,123...16,174,187 		JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,868,096...14,896,413
Ensembl chr  X:14,868,024...14,896,413 		JBrowse link
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,753,594...14,772,745
Ensembl chr  X:14,753,696...14,772,743 		JBrowse link
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,898,296...14,910,244
Ensembl chr  X:14,898,296...14,910,244 		JBrowse link
G Ccnb3 cyclin B3 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:15,478,050...15,543,292
Ensembl chr  X:15,478,065...15,542,885 		JBrowse link
G Cdk16 cyclin-dependent kinase 16 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:1,492,814...1,504,309
Ensembl chr  X:1,492,814...1,504,148 		JBrowse link
G Cfp complement factor properdin ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:1,162,014...1,167,576
Ensembl chr  X:1,161,979...1,167,573 		JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:15,185,380...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		JBrowse link
G Dgkk diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:15,581,991...15,713,814
Ensembl chr  X:15,583,572...15,712,987 		JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,299,427...14,305,826
Ensembl chr  X:14,299,448...14,305,826 		JBrowse link
G Elk1 ETS transcription factor ELK1 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:1,138,826...1,155,713
Ensembl chr  X:1,139,756...1,155,713 		JBrowse link
G Eras ES cell expressed Ras ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,573,987...14,578,455
Ensembl chr  X:14,573,987...14,578,374 		JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838 		JBrowse link
G Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,243,684...14,256,555
Ensembl chr  X:14,244,050...14,252,030 		JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,529,706...14,537,530
Ensembl chr  X:14,529,702...14,537,530 		JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,473,994...14,488,797
Ensembl chr  X:14,473,994...14,488,683 		JBrowse link
G Gpkow G patch domain and KOW motifs ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,791,601...14,806,384
Ensembl chr  X:14,791,610...14,806,384 		JBrowse link
G Gripap1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,678,896...14,708,747
Ensembl chr  X:14,678,898...14,708,679 		JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,550,645...14,572,445
Ensembl chr  X:14,551,044...14,572,441 		JBrowse link
G Kcnd1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,661,688...14,678,745
Ensembl chr  X:14,662,357...14,677,233 		JBrowse link
G Magix MAGI family member, X-linked ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,824,114...14,832,466
Ensembl chr  X:14,824,188...14,831,045 		JBrowse link
G Mir500 microRNA 500 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:15,258,778...15,258,857
Ensembl chr  X:15,258,768...15,258,859 		JBrowse link
G Mir532 microRNA 532 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:15,247,315...15,247,393
Ensembl chr  X:15,247,315...15,247,393 		JBrowse link
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:1,572,805...1,575,063
Ensembl chr  X:1,572,785...1,575,062 		JBrowse link
G Otud5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:14,626,173...14,659,331
Ensembl chr  X:14,626,164...14,659,573 		JBrowse link
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,580,036...14,583,478
Ensembl chr  X:14,580,038...14,583,566 		JBrowse link
G Pim2 Pim-2 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,617,582...14,622,851
Ensembl chr  X:14,617,582...14,622,851 		JBrowse link
G Plp2 proteolipid protein 2 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,834,249...14,837,648
Ensembl chr  X:14,834,231...14,838,514 		JBrowse link
G Porcn porcupine O-acyltransferase ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,285,864...14,298,481
Ensembl chr  X:14,285,871...14,298,481 		JBrowse link
G Ppp1r3f protein phosphatase 1, regulatory subunit 3F ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,915,740...14,945,249
Ensembl chr  X:14,929,323...14,945,193 		JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,603,516...14,608,091
Ensembl chr  X:14,603,539...14,608,087 		JBrowse link
G Praf2 PRA1 domain family, member 2 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,773,398...14,776,035
Ensembl chr  X:14,773,420...14,775,909 		JBrowse link
G Prickle3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,837,647...14,849,305
Ensembl chr  X:14,837,650...14,848,218 		JBrowse link
G Rbm10 RNA binding motif protein 10 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:1,540,399...1,572,571
Ensembl chr  X:1,540,398...1,572,575 		JBrowse link
G Rbm3 RNA binding motif protein 3 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,348,909...14,352,387
Ensembl chr  X:14,348,910...14,353,580 		JBrowse link
G Shroom4 shroom family member 4 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:15,869,065...16,076,850
Ensembl chr  X:15,869,065...16,076,869 		JBrowse link
G Slc35a2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,608,145...14,616,937
Ensembl chr  X:14,608,055...14,616,678 		JBrowse link
G Slc38a5 solute carrier family 38, member 5 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,213,727...14,222,498
Ensembl chr  X:14,213,729...14,222,498 		JBrowse link
G Spaca5 sperm acrosome associated 5 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:918,817...922,000
Ensembl chr  X:918,817...922,049 		JBrowse link
G Ssx1 SSX family member 1 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:13,931,433...13,939,732
Ensembl chr  X:13,931,470...13,939,720 		JBrowse link
G Suv39h1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,421,028...14,433,993
Ensembl chr  X:14,421,109...14,433,982 		JBrowse link
G Suv39h1-ps1 SUV39H1 histone lysine methyltransferase, pseudogene 1 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:141,792,589...141,795,257 JBrowse link
G Syn1 synapsin I ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:1,172,208...1,227,400
Ensembl chr  X:1,172,208...1,227,396 		JBrowse link
G Syp synaptophysin ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,849,444...14,864,553
Ensembl chr  X:14,849,444...14,864,745 		JBrowse link
G Tbc1d25 TBC1 domain family, member 25 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,314,095...14,339,171
Ensembl chr  X:14,314,414...14,338,275 		JBrowse link
G Tfe3 transcription factor binding to IGHM enhancer 3 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,729,547...14,742,830
Ensembl chr  X:14,729,550...14,742,571 		JBrowse link
G Timm17b translocase of inner mitochondrial membrane 17b ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,596,330...14,603,491
Ensembl chr  X:14,594,577...14,603,416 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664 		JBrowse link
G Uba1 ubiquitin-like modifier activating enzyme 1 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:1,508,700...1,530,677
Ensembl chr  X:1,508,666...1,530,636 		JBrowse link
G Usp11 ubiquitin specific peptidase 11 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:1,473,349...1,489,520
Ensembl chr  X:1,473,350...1,489,520 		JBrowse link
G Usp27x ubiquitin specific peptidase 27, X-linked ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:15,123,620...15,126,855
Ensembl chr  X:15,124,596...15,125,912 		JBrowse link
G Uxt ubiquitously-expressed, prefoldin-like chaperone ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:1,126,110...1,138,670
Ensembl chr  X:1,126,162...1,138,663 		JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,405,105...14,413,850
Ensembl chr  X:14,405,124...14,413,849 		JBrowse link
G Wdr13 WD repeat domain 13 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:14,362,484...14,373,727
Ensembl chr  X:14,362,860...14,373,727 		JBrowse link
G Wdr45 WD repeat domain 45 ISO
ISS		 ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 | ClinVar Annotator: match by term: STATIC ENCEPHALOPATHY OF CHILDHOOD WITH NEURODEGENERATION IN ADULTHOOD
OMIM:300894
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22892189 PMID:23176820 More... NCBI chr  X:14,776,280...14,782,202
Ensembl chr  X:14,776,293...14,782,202 		JBrowse link
G Zfp157 zinc finger protein 157 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr12:16,248,230...16,279,459
Ensembl chr12:16,248,230...16,270,698 		JBrowse link
G Zfp182 zinc finger protein 182 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:927,439...1,001,474
Ensembl chr  X:899,439...1,000,954 		JBrowse link
G Znf81 zinc finger protein 81 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:1,030,103...1,126,078
Ensembl chr  X:1,036,153...1,126,102 		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
ISS		 ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 6
OMIM:615643
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21264299 PMID:24360804 More... NCBI chr10:86,014,566...86,018,849
Ensembl chr10:86,014,597...86,018,841 		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 ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 7 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29395073 NCBI chr 1:12,697,742...12,775,562
Ensembl chr 1:12,697,747...12,775,561 		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 ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 8 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29395073 NCBI chr 3:13,675,684...13,689,282
Ensembl chr 3:13,675,684...13,689,255 		JBrowse link
Neurodegeneration with Brain Iron Accumulation 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 9 ClinVar PMID:37660254 NCBI chr 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063 		JBrowse link
G Fth1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 9 OMIM
ClinVar		 PMID:37660254 NCBI chr 1:206,627,142...206,629,430
Ensembl chr 1:206,627,103...206,725,424 		JBrowse link
normal pressure hydrocephalus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak9 adenylate kinase 9 ISS OMIM:236690 MouseDO NCBI chr20:44,724,494...44,941,135
Ensembl chr20:44,724,496...44,941,136 		JBrowse link
G Cfap43 cilia and flagella associated protein 43 ISO
ISS		 OMIM:236690
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Normal pressure hydrocephalus		 OMIM
MouseDO
CTD
ClinVar		 PMID:25741868 PMID:29449551 PMID:31004071 NCBI chr 1:246,625,259...246,712,438
Ensembl chr 1:246,625,262...246,712,443 		JBrowse link
G Cwh43 cell wall biogenesis 43 C-terminal homolog ISS OMIM:236690 MouseDO NCBI chr14:34,754,279...34,800,530
Ensembl chr14:34,754,289...34,800,814 		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 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844 		JBrowse link
obstructive hydrocephalus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo9a myosin IXA ISS MouseDO NCBI chr 8:60,149,234...60,352,330
Ensembl chr 8:60,149,234...60,350,514 		JBrowse link
Osteopetrosis and Infantile Neuroaxonal Dystrophy 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: Osteopetrosis and infantile neuroaxonal dystrophy ClinVar PMID:2668131 PMID:18414213 PMID:18443314 PMID:20301718 PMID:20619503 More... NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114 		JBrowse link
pantothenate kinase-associated neurodegeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam33 ADAM metallopeptidase domain 33 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:118,262,395...118,283,456
Ensembl chr 3:118,271,029...118,283,461 		JBrowse link
G Adissp adipose secreted signaling protein ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:118,364,730...118,378,881
Ensembl chr 3:118,362,363...118,378,838 		JBrowse link
G Adra1d adrenoceptor alpha 1D ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:118,793,356...118,809,354
Ensembl chr 3:118,793,346...118,809,354 		JBrowse link
G Ap5s1 adaptor related protein complex 5 subunit sigma 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:118,429,618...118,432,929
Ensembl chr 3:118,429,637...118,432,926 		JBrowse link
G Atrn attractin ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:118,110,320...118,244,326
Ensembl chr 3:118,110,229...118,244,322 		JBrowse link
G Avp arginine vasopressin ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,793,447...117,805,091
Ensembl chr 3:117,793,457...117,795,425 		JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397 		JBrowse link
G Cdc25b cell division cycle 25B ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:118,407,127...118,417,272
Ensembl chr 3:118,407,128...118,417,272 		JBrowse link
G Cds2 CDP-diacylglycerol synthase 2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:119,514,963...119,553,555
Ensembl chr 3:119,515,000...119,553,541 		JBrowse link
G Cenpb centromere protein B ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:118,396,987...118,399,780
Ensembl chr 3:118,388,546...118,400,470 		JBrowse link
G Chgb chromogranin B ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:120,043,824...120,057,169
Ensembl chr 3:120,043,738...120,057,166 		JBrowse link
G Cpxm1 carboxypeptidase X (M14 family), member 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,588,532...117,595,330
Ensembl chr 3:117,588,532...117,595,330 		JBrowse link
G Crls1 cardiolipin synthase 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:120,119,822...120,138,674
Ensembl chr 3:120,119,852...120,138,655 		JBrowse link
G Ddrgk1 DDRGK domain containing 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,861,916...117,882,680
Ensembl chr 3:117,861,653...117,882,680 		JBrowse link
G Dnaaf9 dynein axonemal assembly factor 9 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,918,047...118,052,641
Ensembl chr 3:117,921,620...118,052,630 		JBrowse link
G Ebf4 EBF family member 4 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,498,186...117,566,566
Ensembl chr 3:117,498,319...117,566,566 		JBrowse link
G Fastkd5 FAST kinase domains 5 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,830,219...117,847,707
Ensembl chr 3:117,830,083...117,847,820 		JBrowse link
G Fermt1 FERM domain containing kindlin 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:120,171,301...120,213,555
Ensembl chr 3:120,171,561...120,213,555 		JBrowse link
G Gfra4 GDNF family receptor alpha 4 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:118,254,937...118,262,252
Ensembl chr 3:118,255,402...118,258,329 		JBrowse link
G Gpcpd1 glycerophosphocholine phosphodiesterase 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:119,787,681...119,832,550
Ensembl chr 3:119,787,682...119,832,517 		JBrowse link
G Hspa12b heat shock protein family A (Hsp70) member 12B ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:118,346,372...118,364,374
Ensembl chr 3:118,346,354...118,364,737 		JBrowse link
G Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,481,845...117,486,909
Ensembl chr 3:117,481,845...117,486,982 		JBrowse link
G Itpa inosine triphosphatase ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249 		JBrowse link
G Lrrn4 leucine rich repeat neuronal 4 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:120,138,093...120,150,877
Ensembl chr 3:120,139,410...120,150,831 		JBrowse link
G Lzts3 leucine zipper tumor suppressor family member 3 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,850,286...117,861,132
Ensembl chr 3:117,851,702...117,860,081 		JBrowse link
G Mavs mitochondrial antiviral signaling protein ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:118,451,650...118,466,094
Ensembl chr 3:118,451,743...118,466,094 		JBrowse link
G Mcm8 minichromosome maintenance 8 homologous recombination repair factor ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:120,086,741...120,117,008
Ensembl chr 3:120,086,763...120,117,008 		JBrowse link
G Mir103a2 microRNA 103a-2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:11479594 PMID:12510040 PMID:15565311 PMID:15659606 PMID:16272150 More... NCBI chr 3:118,510,194...118,510,279
Ensembl chr 3:118,510,194...118,510,279 		JBrowse link
G Mrps26 mitochondrial ribosomal protein S26 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,769,220...117,770,883
Ensembl chr 3:117,769,100...117,770,885 		JBrowse link
G Nop56 NOP56 ribonucleoprotein ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,476,963...117,481,847
Ensembl chr 3:117,477,053...117,481,841 		JBrowse link
G Oxt oxytocin/neurophysin I prepropeptide ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,782,650...117,783,490
Ensembl chr 3:117,782,650...117,783,490 		JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | ClinVar Annotator: match by term: Pigmentary pallidal degeneration
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1301187 PMID:1734303 PMID:3043782 PMID:7898702 PMID:9536098 More... NCBI chr 3:118,483,382...118,519,551
Ensembl chr 3:118,483,444...118,518,320 		JBrowse link
G Pced1a PC-esterase domain containing 1A ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,600,958...117,622,992
Ensembl chr 3:117,616,921...117,622,962 		JBrowse link
G Pcna proliferating cell nuclear antigen ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995 		JBrowse link
G Pdyn prodynorphin ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:116,900,990...116,913,334
Ensembl chr 3:116,900,992...116,913,334 		JBrowse link
G Prnd prion like protein doppel ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:119,213,462...119,218,742
Ensembl chr 3:119,213,429...119,218,745 		JBrowse link
G Prnp prion protein ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937 		JBrowse link
G Prokr2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:119,624,738...119,639,442
Ensembl chr 3:119,627,601...119,635,718 		JBrowse link
G Ptpra protein tyrosine phosphatase, receptor type, A ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,650,146...117,759,744
Ensembl chr 3:117,650,183...117,759,728 		JBrowse link
G Rassf2 Ras association domain family member 2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:119,244,288...119,280,462
Ensembl chr 3:119,245,821...119,280,431 		JBrowse link
G Rnf24 ring finger protein 24 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:118,520,459...118,575,213
Ensembl chr 3:118,525,349...118,541,080 		JBrowse link
G Shld1 shieldin complex subunit 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:119,938,695...120,011,068
Ensembl chr 3:119,938,833...120,009,550 		JBrowse link
G Siglec1 sialic acid binding Ig like lectin 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:118,287,988...118,307,125
Ensembl chr 3:118,287,988...118,306,850 		JBrowse link
G Slc23a2 solute carrier family 23 member 2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:119,302,651...119,395,289
Ensembl chr 3:119,302,666...119,460,343 		JBrowse link
G Slc4a11 solute carrier family 4 member 11 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,900,223...117,912,787
Ensembl chr 3:117,900,223...117,912,674 		JBrowse link
G Smox spermine oxidase ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:118,731,814...118,767,242
Ensembl chr 3:118,731,900...118,765,710 		JBrowse link
G Snca synuclein alpha ISO RGD PMID:10934140 RGD:6480098 NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262 		JBrowse link
G Sncb synuclein, beta ISO RGD PMID:10934140 RGD:6480098 NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012 		JBrowse link
G Sncg synuclein, gamma ISO RGD PMID:10934140 RGD:6480098 NCBI chr16:9,700,513...9,705,751
Ensembl chr16:9,700,514...9,705,368 		JBrowse link
G Snrpb small nuclear ribonucleoprotein polypeptides B and B1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,369,816...117,379,344
Ensembl chr 3:117,370,100...117,379,339 		JBrowse link
G Spef1 sperm flagellar 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:118,390,659...118,396,842
Ensembl chr 3:118,390,575...118,394,531 		JBrowse link
G Stk35 serine/threonine kinase 35 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,016,819...117,049,131
Ensembl chr 3:117,016,950...117,048,066 		JBrowse link
G Tgm3 transglutaminase 3 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,228,661...117,264,078
Ensembl chr 3:117,228,661...117,264,075 		JBrowse link
G Tgm6 transglutaminase 6 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,324,268...117,355,674
Ensembl chr 3:117,321,489...117,354,734 		JBrowse link
G Tmc2 transmembrane channel-like 2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,396,378...117,464,336
Ensembl chr 3:117,396,378...117,464,336 		JBrowse link
G Tmem230 transmembrane protein 230 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:119,473,109...119,497,617
Ensembl chr 3:119,480,735...119,497,614 		JBrowse link
G Tmem239 transmembrane 239 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,604,765...117,605,978
Ensembl chr 3:117,603,564...117,607,125 		JBrowse link
G Trmt6 tRNA methyltransferase 6 non-catalytic subunit ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:120,074,899...120,086,639
Ensembl chr 3:120,074,911...120,086,559 		JBrowse link
G Ubox5 U-box domain containing 5 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,806,212...117,847,711
Ensembl chr 3:117,807,092...117,847,722 		JBrowse link
G Vps16 VPS16 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,622,534...117,644,041
Ensembl chr 3:117,622,542...117,646,441 		JBrowse link
Pelizaeus-Merzbacher disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bex1 brain expressed X-linked 1 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:99,219,014...99,220,518
Ensembl chr  X:99,219,014...99,220,958 		JBrowse link
G Bex3 brain expressed X-linked 3 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:99,273,270...99,274,799
Ensembl chr  X:99,273,161...99,274,800 		JBrowse link
G Esx1 ESX homeobox 1 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:100,449,298...100,454,452 JBrowse link
G Fam199x family with sequence similarity 199, X-linked ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:100,384,230...100,419,935
Ensembl chr  X:100,384,225...100,414,938 		JBrowse link
G Gjc2 gap junction protein, gamma 2 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:15192806 PMID:23143715 PMID:25741868 PMID:28492532 PMID:31319225 NCBI chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467 		JBrowse link
G Il1rapl2 interleukin 1 receptor accessory protein-like 2 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:100,961,509...102,271,753
Ensembl chr  X:100,961,812...102,271,753 		JBrowse link
G Lmnb1 lamin B1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:50,175,861...50,215,210
Ensembl chr18:50,175,874...50,214,502 		JBrowse link
G Morf4l2 mortality factor 4 like 2 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 More... NCBI chr  X:100,082,562...100,093,658
Ensembl chr  X:100,082,404...100,093,728 		JBrowse link
G Plp1 proteolipid protein 1 ISO
ISS		 ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, atypical | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, connatal | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, mild
OMIM:312080
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.A246T (human)		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1376966 PMID:1384324 PMID:1605230 PMID:1707231 PMID:1715570 More... RGD:1358783, RGD:1358559 NCBI chr  X:100,184,039...100,201,035
Ensembl chr  X:100,185,767...100,201,032 		JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, atypical | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, connatal | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, mild ClinVar PMID:1376966 PMID:1384324 PMID:1605230 PMID:1707231 PMID:1715570 More... NCBI chr  X:100,220,897...100,231,591
Ensembl chr  X:100,220,894...100,231,701 		JBrowse link
G Slc25a53 solute carrier family 25, member 53 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:100,306,917...100,319,662
Ensembl chr  X:100,306,915...100,319,863 		JBrowse link
G Tceal1 transcription elongation factor A like 1 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 More... NCBI chr  X:100,058,485...100,060,439
Ensembl chr  X:100,058,132...100,060,551 		JBrowse link
G Tceal3 transcription elongation factor A like 3 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 More... NCBI chr  X:100,010,677...100,012,637
Ensembl chr  X:100,010,690...100,012,654 		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:99,204,422...99,207,373
Ensembl chr  X:99,204,429...99,207,353 		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:99,228,405...99,230,551
Ensembl chr  X:99,228,458...99,230,543 		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:99,171,307...99,173,377
Ensembl chr  X:99,171,177...99,173,710 		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:99,245,645...99,247,720
Ensembl chr  X:99,228,458...99,247,763 		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
ISS		 ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency | ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy
OMIM:264470
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2894756 PMID:8040306 PMID:8279468 PMID:9536098 PMID:11815777 More... NCBI chr10:101,406,197...101,431,252
Ensembl chr10:101,406,197...101,431,232 		JBrowse link
G Ten1 TEN1 subunit of CST complex ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar NCBI chr10:101,431,328...101,455,105
Ensembl chr10:101,431,328...101,453,052 		JBrowse link
peroxisome biogenesis disorder 2B 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 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:25741868 NCBI chr  X:151,428,334...151,450,115
Ensembl chr  X:151,428,578...151,450,115 		JBrowse link
G Acrbp acrosin binding protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,851,149...157,864,211
Ensembl chr 4:157,841,841...157,864,213 		JBrowse link
G Acsm4 acyl-CoA synthetase medium-chain family member 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 1:174,053,931...174,078,345
Ensembl chr 1:174,053,931...174,078,341 		JBrowse link
G Aicda activation-induced cytidine deaminase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972 		JBrowse link
G Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:155,800,030...155,828,515
Ensembl chr 4:155,800,887...155,827,390 		JBrowse link
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,554,287...157,568,092
Ensembl chr 4:157,551,276...157,568,132 		JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484 		JBrowse link
G C1rl complement C1r subcomponent like ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,394,183...157,410,771
Ensembl chr 4:157,394,200...157,410,134 		JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303 		JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:156,074,747...156,084,680
Ensembl chr 4:156,075,389...156,084,701 		JBrowse link
G Cd163 CD163 molecule ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878 		JBrowse link
G Cd27 CD27 molecule ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:158,030,700...158,035,862
Ensembl chr 4:158,030,703...158,035,592 		JBrowse link
G Cd4 Cd4 molecule ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,668,878...157,695,366 JBrowse link
G Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,634,775...157,638,799
Ensembl chr 4:157,634,928...157,638,799 		JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,898,503...157,931,632
Ensembl chr 4:157,899,391...157,931,541 		JBrowse link
G Clec4a1 C-type lectin domain family 4, member A1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:156,173,894...156,186,009
Ensembl chr 4:156,173,894...156,186,008 		JBrowse link
G Clec4a3 C-type lectin domain family 4, member A3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:156,214,030...156,224,818
Ensembl chr 4:156,214,718...156,224,817 		JBrowse link
G Clec4b2 C-type lectin domain family 4, member B2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:156,462,742...156,486,240
Ensembl chr 4:156,462,742...156,486,240 		JBrowse link
G Clec4d C-type lectin domain family 4, member D ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:156,589,591...156,599,279
Ensembl chr 4:156,589,792...156,598,848 		JBrowse link
G Clec4e C-type lectin domain family 4, member E ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:156,606,927...156,612,911
Ensembl chr 4:156,607,614...156,612,767 		JBrowse link
G Clec6a-ps1 C-type lectin domain family 6, member A, pseudogene 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:156,539,408...156,559,032
Ensembl chr 4:156,539,408...156,558,605
Ensembl chr 4:156,539,408...156,558,605 		JBrowse link
G Clstn3 calsyntenin 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,331,494...157,364,769
Ensembl chr 4:157,331,494...157,364,769 		JBrowse link
G Cops7a COP9 signalosome subunit 7A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,766,626...157,792,632
Ensembl chr 4:157,766,588...157,773,948 		JBrowse link
G Dppa3 developmental pluripotency-associated 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:155,851,461...155,854,845
Ensembl chr 4:155,815,296...155,854,861
Ensembl chr 5:155,815,296...155,854,861 		JBrowse link
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,509,258...157,517,540
Ensembl chr 4:157,509,277...157,517,540 		JBrowse link
G Eno2 enolase 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980 		JBrowse link
G Fam90a1a family with sequence similarity 90 member A1A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr16:70,098,439...70,106,147
Ensembl chr16:70,098,740...70,101,241 		JBrowse link
G Foxj2 forkhead box J2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:156,047,043...156,073,540
Ensembl chr 4:156,046,969...156,073,518 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235 		JBrowse link
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:155,831,572...155,835,953
Ensembl chr 4:155,830,909...155,835,937 		JBrowse link
G Gnb3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173 		JBrowse link
G Gpr162 G protein-coupled receptor 162 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,662,200...157,668,341
Ensembl chr 4:157,662,200...157,668,121 		JBrowse link
G Grcc10 gene rich cluster, C10 gene ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,551,276...157,552,924 JBrowse link
G Iffo1 intermediate filament family orphan 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,945,075...157,962,302
Ensembl chr 4:157,945,107...157,962,302 		JBrowse link
G Ing4 inhibitor of growth family, member 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,841,882...157,850,519
Ensembl chr 4:157,841,951...157,850,265 		JBrowse link
G Lag3 lymphocyte activating 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,712,665...157,722,229
Ensembl chr 4:157,712,667...157,720,404 		JBrowse link
G Lpar5 lysophosphatidic acid receptor 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,870,493...157,883,979
Ensembl chr 4:157,881,796...157,882,950 		JBrowse link
G Lpcat3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,468,397...157,509,889
Ensembl chr 4:157,468,290...157,509,880 		JBrowse link
G Lrrc23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,581,285...157,592,188
Ensembl chr 4:157,581,291...157,591,860 		JBrowse link
G Ltbr lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:158,108,884...158,115,339
Ensembl chr 4:158,108,886...158,121,539 		JBrowse link
G Mfap5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:155,727,925...155,750,458
Ensembl chr 4:155,727,925...155,750,458 		JBrowse link
G Mir141 microRNA 141 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,523,239...157,523,332
Ensembl chr 4:157,523,239...157,523,332 		JBrowse link
G Mir200c microRNA 200c ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,523,679...157,523,747 JBrowse link
G Mlf2 myeloid leukemia factor 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,739,651...157,744,325
Ensembl chr 4:157,728,756...157,744,317 		JBrowse link
G Mrpl51 mitochondrial ribosomal protein L51 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,991,756...157,994,715
Ensembl chr 4:157,992,408...157,995,414 		JBrowse link
G Nanog Nanog homeobox ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:155,943,737...155,951,116
Ensembl chr 4:155,943,737...155,951,116 		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 chr 4:157,968,814...157,992,314
Ensembl chr 4:157,968,815...157,992,020 		JBrowse link
G Necap1 NECAP endocytosis associated 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:156,103,935...156,119,068
Ensembl chr 4:156,103,988...156,119,068 		JBrowse link
G Nop2 NOP2 nucleolar protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,932,731...157,944,462
Ensembl chr 4:157,932,716...157,944,459 		JBrowse link
G P3h3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,646,242...157,662,035
Ensembl chr 4:157,646,243...157,662,035 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7719337 PMID:9536098 PMID:10462504 PMID:16199547 PMID:17532062 More... NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431 		JBrowse link
G Phb2 prohibitin 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,517,662...157,522,268
Ensembl chr 4:157,517,577...157,522,272 		JBrowse link
G Pianp PILR alpha associated neural protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,796,425...157,804,842
Ensembl chr 4:157,798,808...157,804,842 		JBrowse link
G Ptms parathymosin ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,722,384...157,726,575
Ensembl chr 4:157,722,386...157,727,009 		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 chr 4:157,526,034...157,550,783
Ensembl chr 4:157,526,035...157,550,984 		JBrowse link
G Rimklb ribosomal modification protein rimK-like family member B ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:155,664,392...155,706,888
Ensembl chr 4:155,664,375...155,706,711 		JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181 		JBrowse link
G Slc2a3 solute carrier family 2 member 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472 		JBrowse link
G Spsb2 splA/ryanodine receptor domain and SOCS box containing 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,613,404...157,615,293
Ensembl chr 4:157,613,401...157,615,284 		JBrowse link
G Tapbpl TAP binding protein-like ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:158,021,454...158,028,905 JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541 		JBrowse link
G Usp5 ubiquitin specific peptidase 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,619,663...157,634,681
Ensembl chr 4:157,619,643...157,634,711 		JBrowse link
G Vamp1 vesicle-associated membrane protein 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:158,012,634...158,019,350
Ensembl chr 4:158,012,663...158,019,349 		JBrowse link
G Zfp384 zinc finger protein 384 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,810,263...157,840,052
Ensembl chr 4:157,810,352...157,839,766 		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 2:173,454,479...173,467,717
Ensembl chr 2:173,454,482...173,467,460 		JBrowse link
G L1cam L1 cell adhesion molecule ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:22186713 RGD:6483013 NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857 		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 ClinVar Annotator: match by term: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET OMIM
ClinVar		 PMID:25741868 PMID:26792856 PMID:28492532 PMID:30575723 NCBI chr 1:152,504,180...152,606,596
Ensembl chr 1:152,504,186...152,606,591 		JBrowse link
progressive leukoencephalopathy with ovarian failure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars2 alanyl-tRNA synthetase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leukoencephalopathy, progressive, with ovarian failure		 OMIM
CTD
ClinVar		 PMID:24808023 PMID:25058219 PMID:25705216 PMID:25741868 PMID:27734837 More... NCBI chr 9:15,484,639...15,496,116
Ensembl chr 9:15,297,531...15,496,090 		JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Leukoencephalopathy, progressive, with ovarian failure ClinVar PMID:24808023 PMID:25058219 PMID:25705216 PMID:25741868 PMID:27734837 More... NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852 		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 ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8874114 PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 More... NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383 		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 ClinVar Annotator: match by term: Retinal dystrophy with leukodystrophy OMIM
ClinVar		 PMID:23105016 PMID:25741868 PMID:28492532 NCBI chr17:85,206,178...85,248,909
Ensembl chr17:85,206,303...85,248,215 		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:14,898,296...14,910,244
Ensembl chr  X:14,898,296...14,910,244 		JBrowse link
G Vps35l VPS35 endosomal protein sorting factor like ISO ClinVar Annotator: match by term: 3C syndrome ClinVar PMID:25741868 NCBI chr 1:173,076,219...173,179,663
Ensembl chr 1:173,076,099...173,180,610 		JBrowse link
G Washc5 WASH complex subunit 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:90,884,192...90,936,096
Ensembl chr 7:90,884,197...90,936,103 		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:31971710 NCBI chr  X:14,898,296...14,910,244
Ensembl chr  X:14,898,296...14,910,244 		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 chr 6:25,575,104...25,659,422
Ensembl chr 6:25,575,104...25,659,422 		JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 OMIM
ClinVar		 PMID:7604842 PMID:24065355 PMID:24824269 PMID:25741868 PMID:26467025 More... NCBI chr 7:90,884,192...90,936,096
Ensembl chr 7:90,884,197...90,936,103 		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 ClinVar Annotator: match by term: CCDC22-related condition | ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 2 OMIM
ClinVar		 PMID:19377476 PMID:21826058 PMID:23563313 PMID:24916641 PMID:25644381 More... NCBI chr  X:14,898,296...14,910,244
Ensembl chr  X:14,898,296...14,910,244 		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 ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 3 OMIM
ClinVar		 PMID:25741868 PMID:31712251 PMID:36113987 NCBI chr 1:173,076,219...173,179,663
Ensembl chr 1:173,076,099...173,180,610 		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 ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 4 OMIM
ClinVar		 PMID:3812597 PMID:25741868 PMID:31474318 PMID:33894126 NCBI chr 6:25,575,104...25,659,422
Ensembl chr 6:25,575,104...25,659,422 		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 chr18:28,355,774...28,357,863
Ensembl chr18:28,355,774...28,358,076 		JBrowse link
G Rnaset2 ribonuclease T2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cystic leukoencephalopathy without megalencephaly		 OMIM
CTD
ClinVar		 PMID:19525954 PMID:25741868 PMID:28492532 NCBI chr 1:52,576,344...52,603,151
Ensembl chr 1:52,585,929...52,603,147 		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 chr18:28,349,248...28,355,843
Ensembl chr18:28,349,248...28,355,843 		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 ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 1 | ClinVar Annotator: match by term: NAGA deficiency, type 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1131374 PMID:1313741 PMID:2243144 PMID:2372288 PMID:2889023 More... NCBI chr 7:113,846,358...113,855,430
Ensembl chr 7:113,846,374...113,855,315 		JBrowse link
G Wbp2nl WBP2 N-terminal like ISO ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 1 ClinVar NCBI chr 7:113,814,793...113,831,974
Ensembl chr 7:113,814,992...113,831,333 		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
ISS		 OMIM:304340
ClinVar Annotator: match by term: Pettigrew syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
MouseDO
ClinVar
CTD		 PMID:2018058 PMID:5054319 PMID:10398241 PMID:12599187 PMID:17186471 More... NCBI chr  X:30,572,746...30,598,961
Ensembl chr  X:30,572,751...30,597,262 		JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: Pettigrew syndrome ClinVar PMID:25741868 NCBI chr  X:117,287,481...117,326,688
Ensembl chr  X:117,287,484...117,326,688 		JBrowse link
TANGO2-related metabolic encephalopathy and arrythmias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION ClinVar PMID:25741868 PMID:28492532 NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889 		JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION | ClinVar Annotator: match by term: Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | ClinVar Annotator: match by term: TANGO2-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25741868 More... NCBI chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574 		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 ClinVar Annotator: match by term: CRB2-related condition | ClinVar Annotator: match by term: Ventriculomegaly-cystic kidney disease
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25557779 PMID:25557780 PMID:25741868 PMID:26795916 PMID:26925547 More... NCBI chr 3:21,542,138...21,564,876
Ensembl chr 3:21,542,221...21,563,294 		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
IMP		 DNA:snps:cds:multiple (human)
ClinVar Annotator: match by term: Aqueductal stenosis, X-linked | ClinVar Annotator: match by term: HYDROCEPHALUS, CONGENITAL, X-LINKED | ClinVar Annotator: match by term: Hydrocephalus due to aqueductal stenosis
CTD Direct Evidence: marker/mechanism
C57BL/6J background		 ClinVar
CTD
OMIM
RGD		 PMID:7562969 PMID:7920659 PMID:7920660 PMID:8929944 PMID:9643285 More... RGD:6483012, RGD:14695001, RGD:6483078 NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
G L1camem2Jgn L1 cell adhesion molecule;CRISPR/Cas9 induced mutant2,JGN IMP RGD PMID:30738385 RGD:14695001
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 congenital idiopathic intestinal pseudoobstruction ClinVar PMID:12650797 PMID:15368500 NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
X-linked VACTERL association term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Baz1a bromodomain adjacent to zinc finger domain, 1A ISO ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations ClinVar NCBI chr 6:72,389,701...72,512,516
Ensembl chr 6:72,389,703...72,512,459 		JBrowse link
G Fancb FA complementation group B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL ASSOCIATION, X-LINKED | 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-H, X-LINKED | ClinVar Annotator: match by term: X-linked VACTERL-H syndrome		 CTD
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32546565 NCBI chr  X:29,403,771...29,420,484
Ensembl chr  X:29,403,771...29,420,192 		JBrowse link
G Fancl FA complementation group L ISO ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus ClinVar PMID:19405097 PMID:23613520 PMID:25741868 PMID:25754594 PMID:28492532 More... NCBI chr14:100,249,733...100,317,958
Ensembl chr14:100,248,875...100,314,255 		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:10866302 PMID:11748304 PMID:17526800 PMID:17526801 PMID:17942903 More... NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Sall1 spalt-like transcription factor 1 ISO ClinVar Annotator: match by term: VACTERL-H ClinVar PMID:25741868 NCBI chr19:18,005,782...18,022,705
Ensembl chr19:18,007,503...18,022,705 		JBrowse link
G Zic3 Zic family member 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus		 OMIM
CTD
ClinVar		 PMID:2629409 PMID:10980576 PMID:14681828 PMID:17764085 PMID:23427188 More... NCBI chr  X:136,123,662...136,129,627
Ensembl chr  X:136,124,026...136,134,746 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            cerebral degeneration 651
              Alpers-Huttenlocher syndrome + 7
              cerebral lipidosis 0
              hydrocephalus + 188
              leukodystrophy + 256
              neuroaxonal dystrophy + 211
              senile degeneration of brain 0
paths to the root