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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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


show annotations for term's descendants           Sort by:
 
cerebral degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba glucosidase, beta, acid ISO ClinVar Annotator: match by term: Brain degeneration ClinVar PMID:30311386 NCBI chr 3:89,202,905...89,208,873
Ensembl chr 3:89,202,928...89,208,966
JBrowse link
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: Brain degeneration ClinVar PMID:10338095, PMID:10737981, PMID:15714521, PMID:16941474, PMID:17309651, PMID:17664528, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 9:114,401,078...114,474,379
Ensembl chr 9:114,401,076...114,474,898
JBrowse link
G Ptpn23 protein tyrosine phosphatase, non-receptor type 23 ISO ClinVar Annotator: match by term: Brain degeneration ClinVar PMID:30311386 NCBI chr 9:110,385,084...110,408,210
Ensembl chr 9:110,385,082...110,408,213
JBrowse link
adrenoleukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP-binding cassette, sub-family D (ALD), member 1 susceptibility ISO
IEA
ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar Annotator: match by term: SIEMERLING-CREUTZFELDT DISEASE
ClinVar Annotator: match by term: Adrenomyeloneuropathy
OMIM:202370 | OMIM:300100
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:300100
ClinVar Annotator: match by null
ClinVar
MouseDO
CTD
OMIM
PMID:1481812, PMID:6728562, PMID:6795626, PMID:7202134, PMID:7561948, PMID:7581394, PMID:7668254, PMID:7677014, PMID:7717396, PMID:7811247, PMID:7825602, PMID:7849718, PMID:7849723, PMID:7860075, PMID:7894167, PMID:7904210, PMID:7998779, PMID:8040304, PMID:8048932, PMID:8353949, PMID:8441467, PMID:8566952, PMID:8621506, PMID:8651290, PMID:8773611, PMID:8892025, PMID:9051655, PMID:9088111, PMID:9195223, PMID:9212180, PMID:9242200, PMID:9425230, PMID:9452087, PMID:9553942, PMID:9556301, PMID:9894883, PMID:10190819, PMID:10227685, PMID:10480364, PMID:10551832, PMID:10737980, PMID:10815658, PMID:10980309, PMID:10980539, PMID:11102997, PMID:11220738, PMID:11248239, PMID:11310629, PMID:11330045, PMID:11336405, PMID:11438993, PMID:11739809, PMID:11748843, PMID:11798073, PMID:11810273, PMID:12175782, PMID:12530690, PMID:12624723, PMID:12913200, PMID:14713218, PMID:14767898, PMID:15032602, PMID:15192815, PMID:15284851, PMID:15333254, PMID:15388659, PMID:15564782, PMID:15643618, PMID:15800013, PMID:15811009, PMID:15812458, PMID:15878823, PMID:16018167, PMID:16023551, PMID:16087056, PMID:16319717, PMID:16401743, PMID:16415970, PMID:16949688, PMID:16996397, PMID:17029209, PMID:17285533, PMID:17498713, PMID:17504626, PMID:17542813, PMID:17602313, PMID:17990484, PMID:18206987, PMID:18306728, PMID:18973459, PMID:19129531, PMID:19496984, PMID:19660195, PMID:19963315, PMID:20008255, PMID:20195870, PMID:20301491, PMID:20455653, PMID:20626745, PMID:20661612, PMID:20800589, PMID:20849526, PMID:20859061, PMID:21068741, PMID:21300044, PMID:21476988, PMID:21478203, PMID:21488864, PMID:21586746, PMID:21700483, PMID:21889498, PMID:21907609, PMID:21966424, PMID:22057157, PMID:22176151, PMID:22198747, PMID:22280810, PMID:22366764, PMID:22479560, PMID:22483867, PMID:22914231, PMID:23009600, PMID:23154058, PMID:23300730, PMID:23419472, PMID:23430809, PMID:23469258, PMID:23566833, PMID:23566848, PMID:23664929, PMID:23671276, PMID:23712774, PMID:23768953, PMID:23835273, PMID:23926373, PMID:24154795, PMID:24480483, PMID:24685009, PMID:24719134, PMID:24722136, PMID:24788897, PMID:25275259, PMID:25324868, PMID:25741868, PMID:26227820, PMID:26260157, PMID:26388597, PMID:26454440, PMID:26467025, PMID:26523528, PMID:26609365, PMID:27067449, PMID:27084228, PMID:27766264, PMID:27779215, PMID:28456143, PMID:28492532, PMID:28503596, PMID:28953922, PMID:29056270, PMID:29284317, PMID:29443243, PMID:30311386, PMID:30544401, PMID:30564185, PMID:30902905, PMID:31074578, PMID:32207279, PMID:8048932 RGD:1598655 NCBI chr  X:73,716,597...73,738,534
Ensembl chr  X:73,716,597...73,738,534
JBrowse link
G Acsbg1 acyl-CoA synthetase bubblegum family member 1 ISO RGD PMID:15800013 RGD:11065111 NCBI chr 9:54,604,886...54,661,885
Ensembl chr 9:54,604,877...54,661,870
JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:73,894,352...73,911,345
Ensembl chr  X:73,891,442...73,921,870
JBrowse link
G Atp6ap1 ATPase, H+ transporting, lysosomal accessory protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:74,297,097...74,304,721
Ensembl chr  X:74,297,097...74,304,721
JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:73,891,765...73,894,428
Ensembl chr  X:73,892,102...73,895,502
JBrowse link
G Bcap31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:73,686,178...73,717,815
Ensembl chr  X:73,686,178...73,716,175
JBrowse link
G Ctag2l2 CTAG2 like 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:74,740,927...74,742,188
Ensembl chr  X:74,740,927...74,742,188
JBrowse link
G Dkc1 dyskeratosis congenita 1, dyskerin ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:75,095,854...75,109,776
Ensembl chr  X:75,095,854...75,109,777
JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:74,273,217...74,282,333
Ensembl chr  X:74,273,217...74,282,337
JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:74,254,674...74,261,563
Ensembl chr  X:74,261,032...74,261,374
Ensembl chr  X:74,261,032...74,261,374
JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:75,170,344...75,382,738
Ensembl chr  X:75,172,715...75,382,615
JBrowse link
G Fam3a family with sequence similarity 3, member A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:74,384,210...74,393,274
Ensembl chr  X:74,384,719...74,393,272
JBrowse link
G Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:74,313,033...74,320,149
Ensembl chr  X:74,313,033...74,320,149
JBrowse link
G Flna filamin, alpha ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:74,223,461...74,249,854
Ensembl chr  X:74,223,461...74,249,820
JBrowse link
G G6pdx glucose-6-phosphate dehydrogenase X-linked ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:74,409,483...74,428,880
Ensembl chr  X:74,409,483...74,429,194
JBrowse link
G Gab3 growth factor receptor bound protein 2-associated protein 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:74,988,545...75,084,905
Ensembl chr  X:74,966,843...75,085,458
JBrowse link
G Gdi1 guanosine diphosphate (GDP) dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:74,305,012...74,311,867
Ensembl chr  X:74,304,998...74,311,862
JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:73,942,792...73,966,995
Ensembl chr  X:73,942,792...73,966,357
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr 8:75,093,618...75,100,593
Ensembl chr 8:75,093,621...75,100,589
JBrowse link
G Idh3g isocitrate dehydrogenase 3 (NAD+), gamma ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:73,778,963...73,786,897
Ensembl chr  X:73,778,963...73,786,897
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr10:118,441,046...118,445,894
Ensembl chr10:118,441,046...118,445,892
JBrowse link
G Ikbkg inhibitor of kappaB kinase gamma ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:74,393,233...74,456,792
Ensembl chr  X:74,393,290...74,453,854
JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:74,013,914...74,023,921
Ensembl chr  X:74,013,914...74,023,918
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:73,853,778...73,880,838
Ensembl chr  X:73,853,778...73,896,105
JBrowse link
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:74,352,162...74,353,618
Ensembl chr  X:74,351,276...74,353,618
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:74,026,592...74,085,690
Ensembl chr  X:74,026,592...74,135,363
JBrowse link
G Mmp10 matrix metallopeptidase 10 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr 9:7,502,342...7,510,242
Ensembl chr 9:7,502,352...7,510,240
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr 8:92,827,290...92,853,421
Ensembl chr 8:92,827,291...92,853,420
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Mpp1 membrane protein, palmitoylated ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:75,109,733...75,131,016
Ensembl chr  X:75,109,733...75,131,016
JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:73,916,870...73,921,944
Ensembl chr  X:73,916,873...73,921,944
JBrowse link
G Opn1mw opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan) ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:74,127,466...74,150,756
Ensembl chr  X:74,127,464...74,150,760
JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:73,793,357...73,825,043
Ensembl chr  X:73,793,359...73,824,969
JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10441568 NCBI chr11:23,646,843...23,665,883
Ensembl chr11:23,646,479...23,665,959
JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12851857 NCBI chr 6:121,183,217...121,198,837
Ensembl chr 6:121,183,667...121,198,837
JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:74,328,290...74,344,689
Ensembl chr  X:74,329,066...74,344,689
JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:73,756,556...73,772,510
Ensembl chr  X:73,757,090...73,772,514
JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:73,922,121...73,930,850
Ensembl chr  X:73,922,121...73,930,850
JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:74,270,816...74,273,135
Ensembl chr  X:74,270,812...74,273,135
JBrowse link
G Slc10a3 solute carrier family 10 (sodium/bile acid cotransporter family), member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:74,369,217...74,373,349
Ensembl chr  X:74,369,217...74,373,349
JBrowse link
G Slc6a8 solute carrier family 6 (neurotransmitter transporter, creatine), member 8 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:73,673,133...73,682,502
Ensembl chr  X:73,673,150...73,682,502
JBrowse link
G Smim9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:75,146,057...75,163,756
Ensembl chr  X:75,146,056...75,163,770
JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr17:13,007,839...13,018,119
Ensembl chr17:13,006,846...13,040,063
JBrowse link
G Srpk3 serine/arginine-rich protein specific kinase 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:73,772,608...73,778,925
Ensembl chr  X:73,774,405...73,778,925
JBrowse link
G Ssr4 signal sequence receptor, delta ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:73,787,023...73,790,828
Ensembl chr  X:73,787,028...73,790,830
JBrowse link
G Taz tafazzin ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:74,281,900...74,295,319
Ensembl chr  X:74,281,912...74,290,151
JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:74,150,909...74,167,838
Ensembl chr  X:74,150,944...74,167,838
JBrowse link
G Timp1 tissue inhibitor of metalloproteinase 1 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr  X:20,870,166...20,874,737
Ensembl chr  X:20,870,166...20,874,735
JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:74,177,259...74,208,498
Ensembl chr  X:74,177,259...74,208,500
JBrowse link
G Ubl4a ubiquitin-like 4A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:74,365,718...74,368,548
Ensembl chr  X:74,365,718...74,373,218
JBrowse link
adult-onset autosomal dominant demyelinating leukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmnb1 lamin B1 ISO
IEA
DNA:duplication:cds (human)
ClinVar Annotator: match by term: Leukodystrophy, Adult-Onset
ClinVar Annotator: match by term: Leukodystrophy, adult-onset, autosomal dominant
OMIM:169500
ClinVar
MouseDO
OMIM
PMID:16951681, PMID:19151023, PMID:21225301, PMID:21909802, PMID:23649844, PMID:25741868, PMID:28492532, PMID:16951681 RGD:10044243 NCBI chr18:56,707,813...56,753,424
Ensembl chr18:56,707,813...56,753,424
JBrowse link
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf1r colony stimulating factor 1 receptor ISO ClinVar Annotator: match by OMIM:221820
ClinVar Annotator: match by term: Hereditary diffuse leukoencephalopathy with spheroids
ClinVar
OMIM
PMID:2470618, PMID:8614507, PMID:16523341, PMID:19153373, PMID:22197934, PMID:23408870, PMID:23411710, PMID:23649896, PMID:23816250, PMID:24034409, PMID:24088041, PMID:24094860, PMID:24198292, PMID:24336230, PMID:24532199, PMID:25012610, PMID:25311247, PMID:25741868, PMID:26633545, PMID:28492532, PMID:29389947 NCBI chr18:61,105,572...61,131,139
Ensembl chr18:61,100,598...61,132,149
JBrowse link
G LOC111188155 Csf1r promoter/intronic regulatory region ISO ClinVar Annotator: match by term: Hereditary diffuse leukoencephalopathy with spheroids ClinVar NCBI chr18:61,102,406...61,109,627 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
IEA
ClinVar Annotator: match by term: Alexander Disease
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alexander's disease
OMIM:203450
ClinVar Annotator: match by OMIM:203450
OMIM
ClinVar
CTD
MouseDO
PMID:1250985, PMID:1941292, PMID:11138011, PMID:11398833, PMID:11567214, PMID:11587071, PMID:11595337, PMID:11867077, PMID:12026242, PMID:12034785, PMID:12034796, PMID:12368989, PMID:12447932, PMID:12581808, PMID:12638020, PMID:12944715, PMID:12975300, PMID:14550921, PMID:14557587, PMID:15030911, PMID:15390001, PMID:15465095, PMID:15477559, PMID:15675360, PMID:15696488, PMID:15732097, PMID:15732098, PMID:16168593, PMID:16168595, PMID:16217707, PMID:16240361, PMID:16505300, PMID:16826512, PMID:16996408, PMID:17043438, PMID:17110673, PMID:17156703, PMID:17383133, PMID:17438228, PMID:17509491, PMID:17629821, PMID:17703343, PMID:17805552, PMID:17894839, PMID:17934883, PMID:17960815, PMID:17985264, PMID:18054694, PMID:18079314, PMID:18217876, PMID:18388212, PMID:18402384, PMID:18495313, PMID:18581469, PMID:18584981, PMID:18653683, PMID:18684770, PMID:19128991, PMID:19418047, PMID:19618846, PMID:19672978, PMID:19948199, PMID:20849398, PMID:21041050, PMID:21132324, PMID:21165639, PMID:21270471, PMID:21533827, PMID:21572052, PMID:21822933, PMID:21917775, PMID:21940697, PMID:21987397, PMID:22140645, PMID:22198646, PMID:22302460, PMID:22488673, PMID:22566711, PMID:22619055, PMID:22818990, PMID:23149175, PMID:23185175, PMID:23254569, PMID:23430549, PMID:23634874, PMID:23706596, PMID:23743246, PMID:23903069, PMID:23925719, PMID:24045243, PMID:24188966, PMID:24306001, PMID:24427505, PMID:24742911, PMID:24755947, PMID:25741868, PMID:26467025, PMID:26478912, PMID:26486469, PMID:28492532, PMID:28953922, PMID:30311386, PMID:31484723, PMID:219025661 NCBI chr11:102,887,336...102,897,200
Ensembl chr11:102,887,336...102,900,912
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 chr18:15,389,394...15,410,982
Ensembl chr18:15,389,496...15,410,982
JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241, PMID:18231121, PMID:20236127, PMID:20979233, PMID:25741868, PMID:28492532 NCBI chr10:58,600,780...58,675,696
Ensembl chr10:58,600,789...58,675,654
JBrowse link
G Fanci Fanconi anemia, complementation group I ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type)
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar PMID:15477547, PMID:16177225, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17950645, PMID:17980715, PMID:18414213, PMID:18991199, PMID:19010300, PMID:20691285, PMID:21038416, PMID:21228398, PMID:21880868, PMID:23524600, PMID:23783014, PMID:24033266, PMID:25462018, PMID:25741868, PMID:26104464, PMID:26467025, PMID:27987238, PMID:28492532 NCBI chr 7:79,392,312...79,450,266
Ensembl chr 7:79,391,929...79,450,264
JBrowse link
G Polg polymerase (DNA directed), gamma susceptibility ISO
IAGP
DNA:mutations:cds:
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive
DNA:missense mutation:cds:p.P1073L (3218C>T) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type)
DNA:missense mutations:cds:
ClinVar
CTD
OMIM
PMID:632821, PMID:1582434, PMID:2067633, PMID:2725645, PMID:8884268, PMID:9500334, PMID:11431686, PMID:11571332, PMID:11897778, PMID:12073019, PMID:12210792, PMID:12297582, PMID:12565911, PMID:12707443, PMID:12825077, PMID:12872260, PMID:12975295, PMID:14467368, PMID:14557557, PMID:14635118, PMID:14694057, PMID:14745080, PMID:15122711, PMID:15181170, PMID:15258572, PMID:15349879, PMID:15351195, PMID:15477547, PMID:15534189, PMID:15689359, PMID:15800909, PMID:15824347, PMID:15913923, PMID:15917273, PMID:15929042, PMID:16024923, PMID:16080118, PMID:16130100, PMID:16177225, PMID:16368709, PMID:16401742, PMID:16545482, PMID:16621917, PMID:16634032, PMID:16638794, PMID:16639411, PMID:16715201, PMID:16857757, PMID:16919951, PMID:16929381, PMID:16940310, PMID:16943369, PMID:16957900, PMID:17067213, PMID:17088268, PMID:17280874, PMID:17426723, PMID:17436221, PMID:17438011, PMID:17452231, PMID:17502560, PMID:17538929, PMID:17846414, PMID:17894835, PMID:17923349, PMID:17950645, PMID:17980715, PMID:18156159, PMID:18195149, PMID:18195151, PMID:18294203, PMID:18321754, PMID:18414213, PMID:18487244, PMID:18500570, PMID:18546343, PMID:18546365, PMID:18585914, PMID:18716558, PMID:18783964, PMID:18828154, PMID:18991199, PMID:19010300, PMID:19103152, PMID:19125351, PMID:19189930, PMID:19195941, PMID:19251978, PMID:19275594, PMID:19307547, PMID:19344718, PMID:19364868, PMID:19478085, PMID:19501198, PMID:19538466, PMID:19566497, PMID:19578034, PMID:19629138, PMID:19752458, PMID:19762913, PMID:19766516, PMID:19813183, PMID:19815814, PMID:19837034, PMID:19862739, PMID:20138553, PMID:20142534, PMID:20153822, PMID:20176107, PMID:20185557, PMID:20227526, PMID:20301791, PMID:20385918, PMID:20434700, PMID:20438629, PMID:20513108, PMID:20576279, PMID:20601675, PMID:20691285, PMID:20701905, PMID:20803511, PMID:20818383, PMID:20837861, PMID:20837862, PMID:20843780, PMID:20883824, PMID:20981092, PMID:21038416, PMID:21138766, PMID:21228000, PMID:21228398, PMID:21235791, PMID:21236670, PMID:21259344, PMID:21276947, PMID:21282586, PMID:21301859, PMID:21305355, PMID:21357833, PMID:21455106, PMID:21515089, PMID:21550804, PMID:21647632, PMID:21654874, PMID:21670405, PMID:21686371, PMID:21696159, PMID:21704543, PMID:21824913, PMID:21856450, PMID:21880868, PMID:21953457, PMID:21956653, PMID:21993618, PMID:22000311, PMID:22006280, PMID:22114710, PMID:22166854, PMID:22176657, PMID:22189570, PMID:22237560, PMID:22277967, PMID:22334187, PMID:22342071, PMID:22357363, PMID:22470557, PMID:22494076, PMID:22552686, PMID:22616202, PMID:22647225, PMID:22711370, PMID:22727047, PMID:22778364, PMID:22863191, PMID:22931735, PMID:22933815, PMID:22987704, PMID:22995991, PMID:23066759, PMID:23077218, PMID:23084792, PMID:23208208, PMID:23212759, PMID:23248042, PMID:23250882, PMID:23251356, PMID:23299917, PMID:23324391, PMID:23426270, PMID:23430834, PMID:23446635, PMID:23446645, PMID:23448099, PMID:23524600, PMID:23545419, PMID:23665194, PMID:23719791, PMID:23783014, PMID:23804100, PMID:23808377, PMID:23811324, PMID:23873972, PMID:23921535, PMID:24033266, PMID:24091540, PMID:24099403, PMID:24122062, PMID:24259288, PMID:24265579, PMID:24272679, PMID:24288107, PMID:24331360, PMID:24508722, PMID:24642831, PMID:24725338, PMID:24841123, PMID:25025039, PMID:25065347, PMID:25118206, PMID:25203713, PMID:25281868, PMID:25286830, PMID:25356970, PMID:25462018, PMID:25466440, PMID:25488682, PMID:25585994, PMID:25660390, PMID:25713120, PMID:25741868, PMID:25771874, PMID:25850945, PMID:25914719, PMID:25940035, PMID:26050231, PMID:26077851, PMID:26095671, PMID:26104464, PMID:26169155, PMID:26337858, PMID:26357557, PMID:26467025, PMID:26468652, PMID:26557169, PMID:26607151, PMID:26735972, PMID:26755490, PMID:26942291, PMID:26942292, PMID:26968897, PMID:27016405, PMID:27119776, PMID:27185166, PMID:27271921, PMID:27290639, PMID:27345795, PMID:27381400, PMID:27422324, PMID:27450679, PMID:27538604, PMID:27538665, PMID:27822509, PMID:27826120, PMID:27838477, PMID:27854218, PMID:27987238, PMID:28128857, PMID:28130605, PMID:28154168, PMID:28206745, PMID:28284481, PMID:28337550, PMID:28471437, PMID:28480171, PMID:28492532, PMID:28634151, PMID:28771251, PMID:28776642, PMID:28812649, PMID:28815208, PMID:28837072, PMID:28865037, PMID:28901595, PMID:28958595, PMID:29029963, PMID:29190809, PMID:29272804, PMID:29278894, PMID:29302508, PMID:29341116, PMID:29358615, PMID:29423831, PMID:29474836, PMID:29482223, PMID:29574624, PMID:29588995, PMID:29644085, PMID:29712893, PMID:29915382, PMID:29920680, PMID:29950568, PMID:29992832, PMID:30021052, PMID:30167885, PMID:30255931, PMID:30290626, PMID:30311386, PMID:30373890, PMID:30423451, PMID:30831263, PMID:30843307, PMID:15689359, PMID:20142534, PMID:16896309, PMID:22237560 RGD:8694184, RGD:15039298, RGD:8694317, RGD:8694284 NCBI chr 7:79,446,231...79,467,911
Ensembl chr 7:79,446,231...79,466,362
JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar NCBI chr 7:79,374,865...79,392,250
Ensembl chr 7:79,374,870...79,387,048
JBrowse link
CADASIL term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htra1 HtrA serine peptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:130,936,203...130,985,658
Ensembl chr 7:130,936,111...130,985,660
JBrowse link
G Notch3 notch 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
CTD
ClinVar
PMID:15229130, PMID:25741868, PMID:26467025 NCBI chr17:32,120,820...32,166,896
Ensembl chr17:32,120,820...32,166,852
JBrowse link
CADASIL 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch3 notch 3 ISO
IEA
ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1
ClinVar Annotator: match by term: Recurrent subcortical infarcts
OMIM:125310
OMIM
ClinVar
MouseDO
PMID:3484396, PMID:8878478, PMID:9388399, PMID:10227618, PMID:10371548, PMID:10712431, PMID:10716263, PMID:10854111, PMID:10969905, PMID:11102981, PMID:11486103, PMID:11559313, PMID:11706120, PMID:11715067, PMID:11755616, PMID:11757773, PMID:11771160, PMID:11784372, PMID:12136071, PMID:12146805, PMID:12196662, PMID:12482954, PMID:12721871, PMID:12754354, PMID:12810003, PMID:12821756, PMID:12821764, PMID:14714274, PMID:15229130, PMID:15287509, PMID:15350543, PMID:15364702, PMID:15378071, PMID:15694192, PMID:15776792, PMID:15834039, PMID:15857853, PMID:15981641, PMID:15995828, PMID:16009764, PMID:16580020, PMID:16717210, PMID:16730748, PMID:16864835, PMID:17122431, PMID:17323840, PMID:17390743, PMID:17879447, PMID:18765654, PMID:18948701, PMID:19006080, PMID:19043263, PMID:19174371, PMID:19180562, PMID:19242647, PMID:19245392, PMID:19252787, PMID:19259619, PMID:19293235, PMID:19359623, PMID:19417009, PMID:19528524, PMID:19542611, PMID:19576955, PMID:19825845, PMID:20038773, PMID:20071773, PMID:20167921, PMID:20301673, PMID:20851625, PMID:20857162, PMID:20935329, PMID:20981092, PMID:21387384, PMID:21555590, PMID:21616505, PMID:21737310, PMID:21852154, PMID:21940951, PMID:22006983, PMID:22019870, PMID:22082899, PMID:22153900, PMID:22159056, PMID:22218279, PMID:22367839, PMID:22373597, PMID:22623959, PMID:22664156, PMID:22795385, PMID:22878905, PMID:22936449, PMID:23025651, PMID:23412372, PMID:23584202, PMID:23602593, PMID:23639391, PMID:23649698, PMID:23844775, PMID:23847153, PMID:24033266, PMID:24086431, PMID:24139282, PMID:24344756, PMID:24425116, PMID:24886907, PMID:24929957, PMID:24936512, PMID:25260786, PMID:25326637, PMID:25344745, PMID:25412914, PMID:25604251, PMID:25623805, PMID:25741868, PMID:25801821, PMID:25819272, PMID:25834748, PMID:25870235, PMID:25929831, PMID:25973016, PMID:25980907, PMID:26002683, PMID:26261665, PMID:26270344, PMID:26308724, PMID:26368811, PMID:26467025, PMID:26646783, PMID:26715087, PMID:26806700, PMID:26850715, PMID:26856460, PMID:26889213, PMID:26894465, PMID:27174004, PMID:27293347, PMID:27350778, PMID:27423596, PMID:27770446, PMID:27844030, PMID:27881154, PMID:27884173, PMID:27890607, PMID:28334938, PMID:28479817, PMID:28492532, PMID:28601945, PMID:28710804, PMID:28991717, PMID:29188607, PMID:29449082, PMID:29980472, PMID:30311053, PMID:30311386, PMID:30402942, PMID:30956055, PMID:31028544, PMID:32581362 NCBI chr17:32,120,820...32,166,896
Ensembl chr17:32,120,820...32,166,852
JBrowse link
CADASIL 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htra1 HtrA serine peptidase 1 ISO ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 ClinVar
OMIM
PMID:19387015, PMID:25741868, PMID:26063658, PMID:30981321, PMID:32101834, PMID:32581362 NCBI chr 7:130,936,203...130,985,658
Ensembl chr 7:130,936,111...130,985,660
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
IEA
ClinVar Annotator: match by term: Spongy degeneration of central nervous system
OMIM:271900
ClinVar Annotator: match by OMIM:271900
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
PMID:7599639, PMID:7668285, PMID:8023850, PMID:8037206, PMID:8088831, PMID:8252036, PMID:8659549, PMID:9452117, PMID:9887384, PMID:10407784, PMID:10564886, PMID:10701101, PMID:10704428, PMID:10724099, PMID:10909858, PMID:11238686, PMID:12205125, PMID:12638939, PMID:14567959, PMID:15243987, PMID:16138249, PMID:16217711, PMID:16437572, PMID:16802711, PMID:16854607, PMID:17027983, PMID:17194761, PMID:17391648, PMID:17999961, PMID:18070137, PMID:18978679, PMID:19685155, PMID:20129749, PMID:20301412, PMID:21228398, PMID:21520333, PMID:21907889, PMID:22019069, PMID:22219087, PMID:22611636, PMID:22750302, PMID:22850825, PMID:22878930, PMID:23233226, PMID:23253610, PMID:23971085, PMID:24033266, PMID:25003821, PMID:25107638, PMID:25741868, PMID:26586007, PMID:26992473, PMID:27457812, PMID:27531131, PMID:27927234, PMID:28101991, PMID:28492532, PMID:8252036, PMID:15857674 RGD:1599291, RGD:1599298 NCBI chr11:73,304,987...73,326,876
Ensembl chr11:73,304,992...73,329,596
JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 IGI RGD PMID:19739253 RGD:5686858 NCBI chr 9:56,865,104...56,899,870
Ensembl chr 9:56,865,033...56,899,870
JBrowse link
G Ctns cystinosis, nephropathic ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285, PMID:10909858, PMID:28492532 NCBI chr11:73,183,133...73,199,115
Ensembl chr11:73,183,596...73,199,042
JBrowse link
G Emc6 ER membrane protein complex subunit 6 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285, PMID:10909858, PMID:28492532 NCBI chr11:73,175,503...73,177,042
Ensembl chr11:73,175,519...73,177,037
JBrowse link
G Glud1 glutamate dehydrogenase 1 IEP protein:decreased expression:cerebellum, brain stem RGD PMID:15016427 RGD:6484588 NCBI chr14:34,310,727...34,345,033
Ensembl chr14:34,310,727...34,345,265
JBrowse link
G Haspin histone H3 associated protein kinase ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285, PMID:10909858, PMID:28492532 NCBI chr11:73,135,484...73,138,294
Ensembl chr11:73,135,485...73,138,294
JBrowse link
G Itgae integrin alpha E, epithelial-associated ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285, PMID:10909858, PMID:28492532 NCBI chr11:73,090,505...73,147,449
Ensembl chr11:73,090,583...73,147,446
JBrowse link
G P2rx5 purinergic receptor P2X, ligand-gated ion channel, 5 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285, PMID:10909858, PMID:28492532 NCBI chr11:73,155,389...73,172,687
Ensembl chr11:73,160,421...73,172,685
JBrowse link
G Shpk sedoheptulokinase ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285, PMID:10909858, PMID:28492532 NCBI chr11:73,199,132...73,224,511
Ensembl chr11:73,199,460...73,224,511
JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial IEA OMIM:271900 MouseDO NCBI chr17:13,007,839...13,018,119
Ensembl chr17:13,006,846...13,040,063
JBrowse link
G Spata22 spermatogenesis associated 22 ISO ClinVar Annotator: match by term: Canavan Disease
ClinVar Annotator: match by term: Spongy degeneration of central nervous system
ClinVar PMID:7599639, PMID:7668285, PMID:8023850, PMID:8037206, PMID:8088831, PMID:8252036, PMID:8659549, PMID:9452117, PMID:9887384, PMID:10407784, PMID:10564886, PMID:10701101, PMID:10704428, PMID:10724099, PMID:10909858, PMID:11238686, PMID:12205125, PMID:12638939, PMID:14567959, PMID:15243987, PMID:16138249, PMID:16217711, PMID:16437572, PMID:16802711, PMID:16854607, PMID:17027983, PMID:17194761, PMID:17391648, PMID:17999961, PMID:18070137, PMID:18978679, PMID:19685155, PMID:20129749, PMID:20301412, PMID:21228398, PMID:21520333, PMID:21907889, PMID:22019069, PMID:22219087, PMID:22611636, PMID:22750302, PMID:22850825, PMID:22878930, PMID:23233226, PMID:23253610, PMID:23971085, PMID:24033266, PMID:25003821, PMID:25107638, PMID:25741868, PMID:26586007, PMID:26992473, PMID:27457812, PMID:27531131, PMID:27927234, PMID:28101991, PMID:28492532 NCBI chr11:73,326,560...73,346,592
Ensembl chr11:73,329,741...73,346,044
JBrowse link
G Tax1bp3 Tax1 (human T cell leukemia virus type I) binding protein 3 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285, PMID:10909858, PMID:28492532 NCBI chr11:73,177,083...73,182,046
Ensembl chr11:73,177,083...73,183,162
JBrowse link
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285, PMID:10909858, PMID:28492532 NCBI chr11:73,234,149...73,261,322
Ensembl chr11:73,234,292...73,261,242
JBrowse link
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285, PMID:10909858, PMID:28492532 NCBI chr11:73,267,489...73,300,368
Ensembl chr11:73,267,388...73,300,363
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: Cerebrovascular disease with thin skin, alopecia, and disc disease
ClinVar Annotator: match by term: CARASIL
ClinVar Annotator: match by term: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
ClinVar Annotator: match by OMIM:600142
OMIM
ClinVar
PMID:11889251, PMID:18316707, PMID:19387015, PMID:21115960, PMID:21482952, PMID:22900900, PMID:23963851, PMID:24500651, PMID:24535794, PMID:25741868, PMID:25770224, PMID:25772074, PMID:25957642, PMID:26063658, PMID:26467025, PMID:27164673, PMID:32101834, PMID:32581362 NCBI chr 7:130,936,203...130,985,658
Ensembl chr 7:130,936,111...130,985,660
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 C subunit 15 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 7:101,881,300...101,901,849
Ensembl chr 7:101,863,715...101,901,849
JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 7:143,823,167...143,848,410
Ensembl chr 7:143,823,145...143,848,410
JBrowse link
G Folr1 folate receptor 1 (adult) ISO ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency
ClinVar Annotator: match by term: Cerebral folate deficiency
ClinVar Annotator: match by OMIM:613068
OMIM
ClinVar
PMID:18842806, PMID:19732866, PMID:20018644, PMID:20683905, PMID:21752681, PMID:21937992, PMID:22586289, PMID:22695967, PMID:24556562, PMID:25741868, PMID:26467025, PMID:27535533, PMID:27781028, PMID:27884173, PMID:28054128, PMID:28492532, PMID:29661558 NCBI chr 7:101,858,331...101,870,788
Ensembl chr 7:101,858,331...101,870,788
JBrowse link
G Gm21994 predicted gene 21994 ISO ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency ClinVar PMID:28492532 NCBI chr 2:150,254,313...150,257,214
Ensembl chr 2:150,254,518...150,255,591
JBrowse link
G Gm7579 predicted gene 7579 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 7:142,211,817...142,213,081
Ensembl chr 7:142,211,859...142,212,590
JBrowse link
G Il18bp interleukin 18 binding protein ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 7:102,015,074...102,018,232
Ensembl chr 7:102,014,885...102,018,690
JBrowse link
G Lamtor1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 7:101,905,837...101,911,903
Ensembl chr 7:101,905,904...101,926,675
JBrowse link
G Nadsyn1 NAD synthetase 1 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 7:143,795,589...143,822,862
Ensembl chr 7:143,795,584...143,822,849
JBrowse link
G Numa1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 7:101,933,977...102,014,959
Ensembl chr 7:101,934,111...102,014,964
JBrowse link
G Rnf121 ring finger protein 121 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 7:102,019,137...102,072,437
Ensembl chr 7:102,019,137...102,065,469
JBrowse link
G Tomt transmembrane O-methyltransferase ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 7:101,899,803...101,906,407
Ensembl chr 7:101,898,370...101,906,359
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 ClinVar Annotator: match by OMIM:300863 OMIM
ClinVar
PMID:16001442, PMID:20181727 NCBI chr  X:7,930,116...7,948,047
Ensembl chr  X:7,930,120...7,947,889
JBrowse link
Clark-Baraitser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trio triple functional domain (PTPRF interacting) ISO ClinVar Annotator: match by term: Clark-Baraitser syndrome ClinVar PMID:25741868 NCBI chr15:27,730,649...28,025,848
Ensembl chr15:27,730,651...28,025,848
JBrowse link
G Trip12 thyroid hormone receptor interactor 12 ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 49
ClinVar Annotator: match by term: Clark-Baraitser syndrome
ClinVar
OMIM
PMID:3812552, PMID:25363768, PMID:25741868, PMID:27848077, PMID:28251352, PMID:28660352, PMID:31814248 NCBI chr 1:84,721,189...84,850,004
Ensembl chr 1:84,721,189...84,840,516
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, beta polypeptide ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cole-Carpenter syndrome
CTD
ClinVar
PMID:25741868 NCBI chr11:120,560,298...120,573,253
Ensembl chr11:120,560,298...120,573,253
JBrowse link
G Sec24d Sec24 related gene family, member D (S. cerevisiae) ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:123,264,801...123,365,641
Ensembl chr 3:123,267,455...123,365,641
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, beta polypeptide ISO ClinVar Annotator: match by term: Cole-Carpenter syndrome 1 OMIM
ClinVar
PMID:25683117 NCBI chr11:120,560,298...120,573,253
Ensembl chr11:120,560,298...120,573,253
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 related gene family, member D (S. cerevisiae) ISO ClinVar Annotator: match by term: Cole-Carpenter syndrome 2
ClinVar Annotator: match by term: Cole-carpenter syndrome 2
OMIM
ClinVar
PMID:25683121, PMID:26467156, PMID:27942778, PMID:30462379 NCBI chr 3:123,264,801...123,365,641
Ensembl chr 3:123,267,455...123,365,641
JBrowse link
communicating hydrocephalus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfia nuclear factor I/A ISO ClinVar Annotator: match by term: Communicating hydrocephalus ClinVar PMID:30311386 NCBI chr 4:97,578,066...98,118,876
Ensembl chr 4:97,772,734...98,118,874
JBrowse link
G Tmem67 transmembrane protein 67 ISO RGD PMID:30705305 RGD:14995942 NCBI chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,355...12,090,020
JBrowse link
Congenital Communicating Hydrocephalus 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trim71 tripartite motif-containing 71 ISO ClinVar Annotator: match by term: HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1 ClinVar
OMIM
PMID:29983323 NCBI chr 9:114,511,268...114,564,369
Ensembl chr 9:114,507,133...114,564,369
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-Coenzyme A dehydrogenase, medium chain ISO ClinVar Annotator: match by term: Hydrocephalus, congenital, 2, with or without brain or eye anomalies ClinVar PMID:11673361, PMID:19780764, PMID:20434380, PMID:23028790, PMID:24966162, PMID:27308838, PMID:28492532 NCBI chr 3:153,922,353...153,944,643
Ensembl chr 3:153,922,357...153,944,632
JBrowse link
G Mpdz multiple PDZ domain crumbs cell polarity complex component ISO ClinVar Annotator: match by term: Hydrocephalus, congenital, 2, with or without brain or eye anomalies
ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive 2
ClinVar Annotator: match by OMIM:615219
OMIM
ClinVar
PMID:23240096, PMID:24033266, PMID:25741868, PMID:28492532, PMID:28556411, PMID:32860008 NCBI chr 4:81,278,499...81,442,897
Ensembl chr 4:81,278,500...81,442,815
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, CONGENITAL, 3, WITH BRAIN ANOMALIES ClinVar
OMIM
PMID:25558065, PMID:25741868, PMID:28556411 NCBI chr11:75,440,943...75,454,808
Ensembl chr11:75,440,944...75,454,717
JBrowse link
Dandy Walker Cyst term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf Braf transforming gene ISO ClinVar Annotator: match by term: Dandy-Walker cyst ClinVar PMID:4386970, PMID:5771505, PMID:16372351, PMID:16523510, PMID:16804887, PMID:16825433, PMID:17551924, PMID:18039235, PMID:18413255, PMID:19206169, PMID:23875798, PMID:24033266, PMID:31474318 NCBI chr 6:39,603,231...39,725,658
Ensembl chr 6:39,603,237...39,725,463
JBrowse link
Dandy-Walker syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4932438A13Rik RIKEN cDNA 4932438A13 gene ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25558065 NCBI chr 3:36,863,063...37,053,033
Ensembl chr 3:36,863,104...37,053,033
JBrowse link
G Armc9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:28492532, PMID:28625504, PMID:31474318 NCBI chr 1:86,154,729...86,278,284
Ensembl chr 1:86,154,780...86,278,284
JBrowse link
G Braf Braf transforming gene ISO ClinVar Annotator: match by term: Dandy-Walker malformation ClinVar PMID:4386970, PMID:5771505, PMID:16372351, PMID:16523510, PMID:16804887, PMID:16825433, PMID:17551924, PMID:18039235, PMID:18413255, PMID:19206169, PMID:23875798, PMID:24033266, PMID:31474318 NCBI chr 6:39,603,231...39,725,658
Ensembl chr 6:39,603,237...39,725,463
JBrowse link
G Chn1 chimerin 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr 2:73,610,660...73,775,367
Ensembl chr 2:73,610,660...73,775,346
JBrowse link
G Dph1 diphthamide biosynthesis 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25558065 NCBI chr11:75,177,643...75,190,483
Ensembl chr11:75,177,643...75,191,241
JBrowse link
G Dpysl5 dihydropyrimidinase-like 5 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chr 5:30,711,564...30,799,369
Ensembl chr 5:30,711,564...30,799,375
JBrowse link
G Foxc1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19668217 NCBI chr13:31,806,646...31,810,635
Ensembl chr13:31,806,633...31,812,476
JBrowse link
G Hyls1 HYLS1, centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chr 9:35,560,821...35,570,069
Ensembl chr 9:35,560,820...35,570,398
JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr 1:93,015,455...93,102,039
Ensembl chr 1:93,015,464...93,101,951
JBrowse link
G Kmt2d lysine (K)-specific methyltransferase 2D ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr15:98,831,669...98,874,077
Ensembl chr15:98,831,669...98,871,204
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:7562969, PMID:8062435, PMID:11772994, PMID:28492532, PMID:30311386 NCBI chr  X:73,853,778...73,880,838
Ensembl chr  X:73,853,778...73,896,105
JBrowse link
G Maged2 MAGE family member D2 ISO ClinVar Annotator: match by term: Dandy-Walker malformation ClinVar NCBI chr  X:150,806,421...150,814,362
Ensembl chr  X:150,806,370...150,814,345
JBrowse link
G Mid1 midline 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr  X:169,685,199...169,990,798
Ensembl chr  X:169,685,199...170,005,736
JBrowse link
G Pdgfrb platelet derived growth factor receptor, beta polypeptide ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:7678051, PMID:9211853, PMID:11341328, PMID:15284236, PMID:17499702, PMID:17656670, PMID:19047372, PMID:20124286, PMID:21194675, PMID:21437241, PMID:22209699, PMID:23255827, PMID:23731537, PMID:23731542, PMID:24065723, PMID:24796542, PMID:25158255, PMID:25391964, PMID:25454926, PMID:25803852, PMID:26279204, PMID:26279649, PMID:26455322, PMID:26971580, PMID:28334876, PMID:29226947, PMID:31474318 NCBI chr18:61,045,127...61,085,067
Ensembl chr18:61,045,150...61,085,061
JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:30858804, PMID:31474318 NCBI chr14:99,099,424...99,254,899
Ensembl chr14:99,099,424...99,254,493
JBrowse link
G Ppp1cb protein phosphatase 1 catalytic subunit beta ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868, PMID:25741869, PMID:27264673, PMID:27681385, PMID:27868344, PMID:28211982, PMID:28492532, PMID:31474318 NCBI chr 5:32,458,848...32,493,713
Ensembl chr 5:32,458,843...32,517,433
JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chr 9:35,558,560...35,567,401
Ensembl chr 9:35,558,595...35,567,401
JBrowse link
G Setd2 SET domain containing 2 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chr 9:110,532,500...110,618,633
Ensembl chr 9:110,532,597...110,618,633
JBrowse link
G Tmem47 transmembrane protein 47 ISO ClinVar Annotator: match by term: Dandy-Walker malformation ClinVar NCBI chr  X:81,070,644...81,097,875
Ensembl chr  X:81,070,698...81,097,872
JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:17584854, PMID:18669490, PMID:18728072, PMID:18954413, PMID:20466733, PMID:22264709, PMID:23361065, PMID:23528852, PMID:24860126, PMID:25008804, PMID:25741868, PMID:26795593, PMID:30744660, PMID:31474318 NCBI chr15:98,949,847...98,953,501
Ensembl chr15:98,949,837...98,953,703
JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr 5:36,966,104...36,988,982
Ensembl chr 5:36,966,104...36,989,205
JBrowse link
G Zfp423 zinc finger protein 423 IEA OMIM:220200 MouseDO NCBI chr 8:87,661,810...87,962,053
Ensembl chr 8:87,661,810...87,959,595
JBrowse link
G Zic1 zinc finger protein of the cerebellum 1 ISO
IEA
OMIM:220200 MouseDO PMID:15338008 RGD:1599905 NCBI chr 9:91,358,058...91,365,768
Ensembl chr 9:91,358,058...91,365,810
JBrowse link
G Zic4 zinc finger protein of the cerebellum 4 IEA OMIM:220200 MouseDO NCBI chr 9:91,365,631...91,389,351
Ensembl chr 9:91,362,413...91,389,348
JBrowse link
hydrocephalus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:30311386 NCBI chr 3:89,714,469...89,753,455
Ensembl chr 3:89,715,022...89,753,446
JBrowse link
G Add1 adducin 1 (alpha) IEA OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 5:34,573,664...34,632,308
Ensembl chr 5:34,573,664...34,632,308
JBrowse link
G Ak7 adenylate kinase 7 IEA OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr12:105,703,858...105,782,447
Ensembl chr12:105,705,976...105,782,447
JBrowse link
G Ak8 adenylate kinase 8 IEA OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 2:28,698,275...28,813,165
Ensembl chr 2:28,700,164...28,813,165
JBrowse link
G Aqp1 aquaporin 1 disease_progression ISO RGD PMID:21135737 RGD:5148011 NCBI chr 6:55,336,299...55,348,555
Ensembl chr 6:55,336,432...55,348,555
JBrowse link
G Aqp4 aquaporin 4 disease_progression ISO RGD PMID:21135737 RGD:5148011 NCBI chr18:15,389,394...15,410,982
Ensembl chr18:15,389,496...15,410,982
JBrowse link
G Arid1b AT rich interactive domain 1B (SWI-like) IMP RGD PMID:28867767 RGD:13439722 NCBI chr17:4,994,297...5,347,656
Ensembl chr17:4,994,332...5,347,656
JBrowse link
G Atp1a3 ATPase, Na+/K+ transporting, alpha 3 polypeptide ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:22842232, PMID:25741868, PMID:26297560, PMID:26410222, PMID:28492532 NCBI chr 7:24,978,167...25,006,077
Ensembl chr 7:24,978,167...25,005,958
JBrowse link
G Bok BCL2-related ovarian killer ISO mRNA:increased expression:brain:Hydrocephalus-Texas (HTX, RS:0000399) vs. SD (RS:0000681) rats RGD PMID:15964663 RGD:1624238 NCBI chr 1:93,685,575...93,695,770
Ensembl chr 1:93,685,660...93,695,764
JBrowse link
G Braf Braf transforming gene ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:16439621, PMID:18039235, PMID:18413255, PMID:19376813, PMID:24033266, PMID:25463315, PMID:25741868, PMID:26619011, PMID:28492532, PMID:30311386 NCBI chr 6:39,603,231...39,725,658
Ensembl chr 6:39,603,237...39,725,463
JBrowse link
G Brca1 breast cancer 1, early onset ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:7837387, PMID:8644702, PMID:9663595, PMID:12393792, PMID:12566964, PMID:15024741, PMID:15383404, PMID:15876480, PMID:18763032, PMID:18783588, PMID:20373018, PMID:21232165, PMID:21989927, PMID:23199084, PMID:23683081, PMID:24033266, PMID:24312913, PMID:24504028, PMID:25330149, PMID:25682074, PMID:25741868, PMID:25948282, PMID:26083025, PMID:26219728, PMID:26295337, PMID:26467025, PMID:26852130, PMID:27741520, PMID:28324225, PMID:28492532, PMID:29335924, PMID:30311386, PMID:30606148 NCBI chr11:101,488,761...101,551,955
Ensembl chr11:101,488,764...101,551,955
JBrowse link
G Ccdc39 coiled-coil domain containing 39 IEA OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 3:33,810,757...33,844,325
Ensembl chr 3:33,812,362...33,844,310
JBrowse link
G Ccdc85c coiled-coil domain containing 85C IEA OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr12:108,203,599...108,277,852
Ensembl chr12:108,203,602...108,275,425
JBrowse link
G Ccdc88c coiled-coil domain containing 88C ISO ClinVar Annotator: match by term: Hydrocephalus
ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive
ClinVar Annotator: match by OMIM:236600
OMIM
ClinVar
PMID:21031079, PMID:23042809, PMID:25062847, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29225145 NCBI chr12:100,911,519...101,029,351
Ensembl chr12:100,911,523...101,029,056
JBrowse link
G Ccnd2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chr 6:127,125,162...127,152,188
Ensembl chr 6:127,125,162...127,152,193
JBrowse link
G Cdk8 cyclin-dependent kinase 8 ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:25741868 NCBI chr 5:146,230,795...146,302,874
Ensembl chr 5:146,231,230...146,302,874
JBrowse link
G Celsr2 cadherin, EGF LAG seven-pass G-type receptor 2 IEA OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 3:108,390,848...108,416,069
Ensembl chr 3:108,390,851...108,415,552
JBrowse link
G Cplane1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Hydrocephaly ClinVar PMID:25407461, PMID:25741868, PMID:26092869, PMID:28125082, PMID:28492532, PMID:30311386 NCBI chr15:8,169,025...8,271,158
Ensembl chr15:8,169,106...8,271,158
JBrowse link
G Crppa CDP-L-ribitol pyrophosphorylase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22522421 NCBI chr12:36,380,575...36,689,503
Ensembl chr12:36,381,450...36,689,503
JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Hydrocephalus ClinVar NCBI chr 9:21,800,180...21,852,718
Ensembl chr 9:21,799,860...21,852,635
JBrowse link
G Dpcd deleted in primary ciliary dyskinesia IEA OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr19:45,560,583...45,578,289
Ensembl chr19:45,560,615...45,579,763
JBrowse link
G E2f5 E2F transcription factor 5 IEA OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 3:14,578,602...14,606,309
Ensembl chr 3:14,578,641...14,606,309
JBrowse link
G Foxc1 forkhead box C1 IMP RGD PMID:9635428 RGD:8662364 NCBI chr13:31,806,646...31,810,635
Ensembl chr13:31,806,633...31,812,476
JBrowse link
G Fzd3 frizzled class receptor 3 IEA OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr14:65,192,441...65,262,463
Ensembl chr14:65,192,449...65,262,463
JBrowse link
G Gdnf glial cell line derived neurotrophic factor ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:30311386 NCBI chr15:7,810,048...7,837,580
Ensembl chr15:7,810,846...7,837,575
JBrowse link
G Gldc glycine decarboxylase IMP RGD PMID:25736695 RGD:12904662 NCBI chr19:30,098,441...30,175,441
Ensembl chr19:30,098,447...30,175,429
JBrowse link
G Hmgb1 high mobility group box 1 ISO RGD PMID:22116431 RGD:10402405 NCBI chr 5:149,046,702...149,053,057
Ensembl chr 5:149,046,702...149,184,489
JBrowse link
G Hspd1 heat shock protein 1 (chaperonin) ISO RGD PMID:15964663 RGD:1624238 NCBI chr 1:55,077,833...55,088,243
Ensembl chr 1:55,077,835...55,088,243
JBrowse link
G Hydin HYDIN, axonemal central pair apparatus protein IAGP
IEA
ISO
DNA:nonsense mutation:exon (mouse)
OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219
CTD Direct Evidence: marker/mechanism
MouseDO
CTD
PMID:12719380, PMID:19029900, PMID:12719380 RGD:634487 NCBI chr 8:110,266,968...110,610,253
Ensembl chr 8:110,266,977...110,610,253
JBrowse link
G Ift122 intraflagellar transport 122 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20493458 NCBI chr 6:115,853,379...115,926,699
Ensembl chr 6:115,853,470...115,926,699
JBrowse link
G Itgb1 integrin beta 1 (fibronectin receptor beta) ISO RGD PMID:19726708 RGD:2325325 NCBI chr 8:128,685,654...128,733,579
Ensembl chr 8:128,685,654...128,733,200
JBrowse link
G Kcnt1 potassium channel, subfamily T, member 1 ISO ClinVar Annotator: match by term: Hydrocephalus ClinVar PMID:25741868, PMID:28492532 NCBI chr 2:25,863,791...25,918,273
Ensembl chr 2:25,863,734...25,918,273
JBrowse link
G Kif27 kinesin family member 27 IEA OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr13:58,284,727...58,364,745
Ensembl chr13:58,287,502...58,359,122
JBrowse link
G L1cam L1 cell adhesion molecule ISS
ISO
OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219
ClinVar Annotator: match by term: X-linked hydrocephalus
MouseDO
ClinVar
PMID:7881431, PMID:9300653, PMID:25741868, PMID:31680349 NCBI chr  X:73,853,778...73,880,838
Ensembl chr  X:73,853,778...73,896,105
JBrowse link
G Llgl1 LLGL1 scribble cell polarity complex component IMP RGD PMID:15037549 RGD:1300301 NCBI chr11:60,699,672...60,714,186
Ensembl chr11:60,699,723...60,714,186
JBrowse link
G Man1b1 mannosidase, alpha, class 1B, member 1 ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 2:25,332,730...25,352,213
Ensembl chr 2:25,332,338...25,352,212
JBrowse link
G Mboat7 membrane bound O-acyltransferase domain containing 7 IEA OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 7:3,677,789...3,693,189
Ensembl chr 7:3,677,789...3,693,523
JBrowse link
G Mpdz multiple PDZ domain crumbs cell polarity complex component ISS
ISO
OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219
ClinVar Annotator: match by term: Congenital hydrocephalus
MouseDO
ClinVar
PMID:24033266, PMID:28492532 NCBI chr 4:81,278,499...81,442,897
Ensembl chr 4:81,278,500...81,442,815
JBrowse link
G Nin ninein ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:30311386 NCBI chr12:70,011,435...70,113,811
Ensembl chr12:70,011,435...70,113,717
JBrowse link
G Nme5 NME/NM23 family member 5 IEA OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr18:34,562,634...34,579,152
Ensembl chr18:34,562,634...34,579,115
JBrowse link
G Nme7 NME/NM23 family member 7 IEA OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 1:164,307,524...164,437,300
Ensembl chr 1:164,304,121...164,437,725
JBrowse link
G Ntf3 neurotrophin 3 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:11580868 RGD:1358755 NCBI chr 6:126,101,412...126,166,772
Ensembl chr 6:126,101,412...126,166,910
JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Hydrocephaly ClinVar PMID:25741868 NCBI chr 4:147,909,753...147,936,776
Ensembl chr 4:147,909,753...147,936,767
JBrowse link
G Pomk protein-O-mannose kinase IEA OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 8:25,980,604...25,994,121
Ensembl chr 8:25,980,604...25,994,133
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO mRNA:decreased expression:brain:Hydrocephalus-Texas (HTX, RS:0000399) vs. SD (RS:0000681) rats RGD PMID:15964663 RGD:1624238 NCBI chr15:85,734,910...85,806,851
Ensembl chr15:85,734,983...85,802,819
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:28492532, PMID:29983323 NCBI chr13:63,508,328...63,573,460
Ensembl chr13:63,508,328...63,573,598
JBrowse link
G Setd2 SET domain containing 2 ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:31474318 NCBI chr 9:110,532,500...110,618,633
Ensembl chr 9:110,532,597...110,618,633
JBrowse link
G Sin3a transcriptional regulator, SIN3A (yeast) ISO CTD Direct Evidence: marker/mechanism CTD PMID:27399968 NCBI chr 9:57,071,991...57,128,368
Ensembl chr 9:57,072,040...57,128,366
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 9:110,132,024...110,240,178
Ensembl chr 9:110,117,708...110,240,178
JBrowse link
G Sox3 SRY (sex determining region Y)-box 3 IEA OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr  X:60,891,366...60,893,430
Ensembl chr  X:60,891,366...60,893,430
JBrowse link
G Stk36 serine/threonine kinase 36 IEA OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 1:74,601,391...74,636,894
Ensembl chr 1:74,601,445...74,636,894
JBrowse link
G Tmem67 transmembrane protein 67 ISO RGD PMID:30705305 RGD:14995942 NCBI chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,355...12,090,020
JBrowse link
G Trim71 tripartite motif-containing 71 ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:29983323 NCBI chr 9:114,511,268...114,564,369
Ensembl chr 9:114,507,133...114,564,369
JBrowse link
G Txn1 thioredoxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31310794 NCBI chr 4:57,943,373...57,956,411
Ensembl chr 4:57,943,373...57,956,411
JBrowse link
G Ulk4 unc-51-like kinase 4 IEA OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 9:120,964,454...121,286,159
Ensembl chr 9:120,955,351...121,277,197
JBrowse link
G Wdr37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:31327508, PMID:31327510, PMID:31474318 NCBI chr13:8,802,966...8,872,100
Ensembl chr13:8,802,968...8,871,909
JBrowse link
hydrolethalus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hyls1 HYLS1, centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Hydrolethalus syndrome ClinVar PMID:15843405, PMID:18648327, PMID:19400947, PMID:19656802, PMID:25741868, PMID:28492532 NCBI chr 9:35,560,821...35,570,069
Ensembl chr 9:35,560,820...35,570,398
JBrowse link
G Kif7 kinesin family member 7 ISO
IEA
CTD Direct Evidence: marker/mechanism
OMIM:236680 | OMIM:614120
CTD
MouseDO
PMID:21552264 NCBI chr 7:79,698,098...79,715,772
Ensembl chr 7:79,698,098...79,715,720
JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Hydrolethalus syndrome ClinVar PMID:15843405, PMID:18648327, PMID:19400947, PMID:19656802, PMID:25741868, PMID:28492532 NCBI chr 9:35,558,560...35,567,401
Ensembl chr 9:35,558,595...35,567,401
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 ClinVar Annotator: match by term: Hydrolethalus syndrome 1 OMIM
ClinVar
PMID:15843405, PMID:18648327, PMID:19400947, PMID:19656802, PMID:25741868, PMID:28492532 NCBI chr 9:35,560,821...35,570,069
Ensembl chr 9:35,560,820...35,570,398
JBrowse link
G Kif7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:79,698,098...79,715,772
Ensembl chr 7:79,698,098...79,715,720
JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Hydrolethalus syndrome 1 ClinVar PMID:15843405, PMID:18648327, PMID:19400947, PMID:19656802, PMID:25741868, PMID:28492532 NCBI chr 9:35,558,560...35,567,401
Ensembl chr 9:35,558,595...35,567,401
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:21552264, PMID:25741868, PMID:28492532 NCBI chr 7:79,698,098...79,715,772
Ensembl chr 7:79,698,098...79,715,720
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 family, member 2 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 10 OMIM
ClinVar
PMID:25741868, PMID:25865492, PMID:27130255, PMID:27860360 NCBI chr 1:180,904,274...180,908,088
Ensembl chr 1:180,904,293...180,908,088
JBrowse link
hypomyelinating leukodystrophy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1c polymerase (RNA) I polypeptide C ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 11 OMIM
ClinVar
PMID:610060, PMID:11013442, PMID:21131976, PMID:25741868, PMID:26151409, PMID:28327206, PMID:29567474 NCBI chr17:46,243,920...46,248,045
Ensembl chr17:46,243,920...46,248,054
JBrowse link
hypomyelinating leukodystrophy 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps11 VPS11, CORVET/HOPS core subunit ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 12 ClinVar
OMIM
PMID:25741868, PMID:26307567, PMID:27120463 NCBI chr 9:44,347,749...44,361,673
Ensembl chr 9:44,347,749...44,361,670
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 ISO ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 13 ClinVar
OMIM
PMID:26545878 NCBI chr 7:89,918,685...89,941,223
Ensembl chr 7:89,917,529...89,941,204
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 ClinVar
OMIM
PMID:25741868, PMID:28931644, PMID:29868776, PMID:30311386, PMID:32860008 NCBI chr 3:53,853,376...53,863,807
Ensembl chr 3:53,853,376...53,863,830
JBrowse link
Hypomyelinating Leukodystrophy 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eprs glutamyl-prolyl-tRNA synthetase ISO ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 15 ClinVar
OMIM
PMID:25741868, PMID:29576217 NCBI chr 1:185,361,417...185,428,360
Ensembl chr 1:185,363,044...185,428,360
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 ClinVar
OMIM
PMID:25741868, PMID:29186371, PMID:29444210 NCBI chr 6:13,069,759...13,089,269
Ensembl chr 6:13,069,759...13,089,269
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 ClinVar
OMIM
PMID:29215095 NCBI chr 5:143,902,704...143,909,839
Ensembl chr 5:143,902,704...143,909,847
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 chr 1:182,275,964...182,282,854
Ensembl chr 1:182,275,772...182,282,804
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 OMIM
ClinVar
PMID:25741868, PMID:31587869 NCBI chr 1:180,942,286...180,975,106
Ensembl chr 1:180,942,344...180,975,112
JBrowse link
hypomyelinating leukodystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjc2 gap junction protein, gamma 2 ISO
IEA
IMP
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 2
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
ClinVar Annotator: match by OMIM:608804
ClinVar Annotator: match by null
OMIM
ClinVar
MouseDO
CTD
PMID:8733901, PMID:15192806, PMID:16969684, PMID:17031678, PMID:17344063, PMID:18094336, PMID:18571143, PMID:20695017, PMID:21246605, PMID:21959080, PMID:22351697, PMID:22669416, PMID:22833003, PMID:23142375, PMID:24374284, PMID:25326635, PMID:25741868, PMID:26354221, PMID:27057822, PMID:27780564, PMID:28492532, PMID:29276893, PMID:29389947, PMID:18094336, PMID:16707726, PMID:21750683, PMID:21959080, PMID:15192806 RGD:13208581, RGD:13208580, RGD:13208533, RGD:13208526, RGD:13208525 NCBI chr11:59,175,564...59,183,213
Ensembl chr11:59,175,568...59,183,213
JBrowse link
G Snap29 synaptosomal-associated protein 29 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 2 ClinVar PMID:25356970 NCBI chr16:17,406,000...17,430,826
Ensembl chr16:17,405,986...17,430,827
JBrowse link
Hypomyelinating Leukodystrophy 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase ISO OMIM NCBI chr11:100,574,909...100,591,875
Ensembl chr11:100,574,904...100,591,729
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
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating 3
ClinVar Annotator: match by OMIM:260600
OMIM
ClinVar
PMID:21092922, PMID:23806086, PMID:24088041, PMID:24958424, PMID:25741868, PMID:26257172 NCBI chr 3:132,660,498...132,684,390
Ensembl chr 3:132,660,481...132,684,370
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 1 (chaperonin) ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 4
DNA:mutation:exon: g.1512A>G(p.D29G)(human)
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:18571143, PMID:25741868, PMID:27405012, PMID:18571143 RGD:12910473 NCBI chr 1:55,077,833...55,088,243
Ensembl chr 1:55,077,835...55,088,243
JBrowse link
G Polr3a polymerase (RNA) III (DNA directed) polypeptide A ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 4 ClinVar PMID:29389947 NCBI chr14:24,448,694...24,487,070
Ensembl chr14:24,448,696...24,487,058
JBrowse link
hypomyelinating leukodystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam126a family with sequence similarity 126, member A ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract
ClinVar Annotator: match by OMIM:610532
OMIM
ClinVar
PMID:16951682, PMID:17928815, PMID:21911699, PMID:25741868, PMID:28492532 NCBI chr 5:23,915,276...24,030,696
Ensembl chr 5:23,915,276...24,030,690
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
IEA
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 6
OMIM:612438
ClinVar
MouseDO
OMIM
PMID:3156966, PMID:3405308, PMID:7983175, PMID:12372733, PMID:16707859, PMID:18466252, PMID:18851904, PMID:20191564, PMID:21956287, PMID:23424103, PMID:23582646, PMID:23595291, PMID:24088041, PMID:24526230, PMID:24706558, PMID:24742798, PMID:24785942, PMID:24850488, PMID:24974158, PMID:25085639, PMID:25168210, PMID:25326635, PMID:25326637, PMID:25356970, PMID:25497598, PMID:25545912, PMID:25741868, PMID:25772097, PMID:26318963, PMID:26633545, PMID:26643067, PMID:27188707, PMID:28492532, PMID:28592043, PMID:28655586, PMID:28973395, PMID:29451896, PMID:30079973, PMID:32581362 NCBI chr17:57,080,061...57,087,600
Ensembl chr17:57,080,066...57,087,782
JBrowse link
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7 ClinVar PMID:25741868 NCBI chr13:117,602,320...117,981,028
Ensembl chr13:117,602,320...117,987,418
JBrowse link
G Polr3a polymerase (RNA) III (DNA directed) polypeptide A ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7
ClinVar Annotator: match by term: Dentoleukoencephalopathy
ClinVar Annotator: match by term: Pol III-related leukodystrophy
ClinVar Annotator: match by term: Leukodystrophy with oligodontia
ClinVar Annotator: match by OMIM:607694
OMIM
ClinVar
PMID:614258, PMID:12605447, PMID:17159124, PMID:20640464, PMID:21855841, PMID:22036171, PMID:25339210, PMID:25741868, PMID:26096995, PMID:26752647, PMID:27029625, PMID:27521716, PMID:27535217, PMID:28459997, PMID:28492532, PMID:30414627, PMID:30847471, PMID:31637490, PMID:32214227, PMID:32860008 NCBI chr14:24,448,694...24,487,070
Ensembl chr14:24,448,696...24,487,058
JBrowse link
G Polr3b polymerase (RNA) III (DNA directed) polypeptide B ISO ClinVar Annotator: match by term: Pol III-related leukodystrophy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22036172, PMID:23355746, PMID:25339210, PMID:25741868, PMID:26204956 NCBI chr10:84,622,292...84,727,178
Ensembl chr10:84,622,292...84,727,178
JBrowse link
G Rps24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Pol III-related leukodystrophy
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7
ClinVar PMID:25741868, PMID:27029625 NCBI chr14:24,490,678...24,496,960
Ensembl chr14:24,487,125...24,496,959
JBrowse link
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH HYPODONTIA AND HYPOGONADOTROPIC HYPOGONADISM ClinVar PMID:14612911, PMID:15087378, PMID:17721994, PMID:18571837, PMID:21244692, PMID:23960188, PMID:24390236, PMID:25186627, PMID:25231023, PMID:25326637, PMID:25741868, PMID:26467025, PMID:26787654, PMID:27153395, PMID:27443514, PMID:27595995, PMID:27878467, PMID:28492532, PMID:28553140, PMID:28828701, PMID:29335925, PMID:30851065 NCBI chr 5:110,839,800...110,874,140
Ensembl chr 5:110,839,979...110,874,145
JBrowse link
G Polr3b polymerase (RNA) III (DNA directed) polypeptide B ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism
ClinVar Annotator: match by OMIM:614381
OMIM
ClinVar
PMID:18851904, PMID:22036171, PMID:22036172, PMID:23355746, PMID:25133958, PMID:25339210, PMID:25741868, PMID:26204956, PMID:27512013, PMID:28492532 NCBI chr10:84,622,292...84,727,178
Ensembl chr10:84,622,292...84,727,178
JBrowse link
hypomyelinating leukodystrophy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rars arginyl-tRNA synthetase ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 9
ClinVar Annotator: match by OMIM:616140
OMIM
ClinVar
PMID:24777941, PMID:25741868, PMID:27848944, PMID:28492532, PMID:28905880, PMID:30311386, PMID:30791064 NCBI chr11:35,808,381...35,834,528
Ensembl chr11:35,808,381...35,834,506
JBrowse link
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
ClinVar Annotator: match by OMIM:607236
OMIM
ClinVar
PMID:1734303, PMID:7898702, PMID:11479594, PMID:12058097, PMID:12510040, PMID:14638969, PMID:15565311, PMID:15659606, PMID:15834858, PMID:16272150, PMID:16437574, PMID:16450344, PMID:22221393, PMID:22416811, PMID:23968566, PMID:24075960, PMID:24215330, PMID:24348190, PMID:25741868, PMID:25802776, PMID:26087139, PMID:26795593, PMID:27185474, PMID:28492532, PMID:28708303, PMID:28781879, PMID:29590070, PMID:30311386, PMID:32581362 NCBI chr 2:131,262,008...131,299,188
Ensembl chr 2:131,262,495...131,299,188
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 null ClinVar PMID:16783378 NCBI chr15:79,286,228...79,328,385
Ensembl chr15:79,286,228...79,328,390
JBrowse link
leukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis-inducing factor, mitochondrion-associated 1 ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:30311386 NCBI chr  X:48,474,944...48,513,563
Ensembl chr  X:48,474,944...48,513,563
JBrowse link
G Alms1 ALMS1, centrosome and basal body associated ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:24462884, PMID:26104972, PMID:28492532, PMID:32581362 NCBI chr 6:85,587,498...85,726,611
Ensembl chr 6:85,587,531...85,702,753
JBrowse link
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:1671769, PMID:1684088, PMID:7866401, PMID:8723680, PMID:9096767, PMID:9600244, PMID:10381328, PMID:12081727, PMID:12809637, PMID:14517960, PMID:15952986, PMID:18693274, PMID:20339381, PMID:23581857, PMID:23701968, PMID:24001781, PMID:25741868, PMID:26462614, PMID:26890752, PMID:28492532, PMID:30311386 NCBI chr15:89,472,476...89,477,424
Ensembl chr15:89,472,476...89,477,425
JBrowse link
G Clcn2 chloride channel, voltage-sensitive 2 IEA MouseDO NCBI chr16:20,702,435...20,717,746
Ensembl chr16:20,702,964...20,717,746
JBrowse link
G Degs1 delta(4)-desaturase, sphingolipid 1 ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868, PMID:30620337, PMID:31186544 NCBI chr 1:182,275,964...182,282,854
Ensembl chr 1:182,275,772...182,282,804
JBrowse link
G Eif2b5 eukaryotic translation initiation factor 2B, subunit 5 epsilon ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868 NCBI chr16:20,498,795...20,509,325
Ensembl chr16:20,498,817...20,509,323
JBrowse link
G Galc galactosylceramidase ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:8940268, PMID:9338580, PMID:16607461, PMID:20410102, PMID:20886637, PMID:22520351, PMID:25741868, PMID:26108647, PMID:27442402, PMID:27638593, PMID:28492532, PMID:29286531, PMID:30311386 NCBI chr12:98,202,287...98,259,459
Ensembl chr12:98,202,294...98,259,459
JBrowse link
G Kars lysyl-tRNA synthetase ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868 NCBI chr 8:111,993,439...112,011,354
Ensembl chr 8:111,993,443...112,011,323
JBrowse link
G Men1 multiple endocrine neoplasia 1 ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:12652570, PMID:23321498, PMID:25741868, PMID:28492532 NCBI chr19:6,334,979...6,340,894
Ensembl chr19:6,334,979...6,340,891
JBrowse link
G Mlc1 megalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human) ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:11254442, PMID:11935341, PMID:30311386 NCBI chr15:88,955,884...88,982,693
Ensembl chr15:88,955,884...88,979,007
JBrowse link
G Psen1 presenilin 1 ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868, PMID:30311386, PMID:31153663 NCBI chr12:83,688,152...83,735,095
Ensembl chr12:83,688,152...83,735,199
JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:30311386 NCBI chr  X:48,513,663...48,530,240
Ensembl chr  X:48,519,285...48,530,232
JBrowse link
G Sptbn2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:30311386 NCBI chr19:4,711,208...4,753,978
Ensembl chr19:4,711,167...4,752,360
JBrowse link
G Tmem63a transmembrane protein 63a ISO ClinVar Annotator: match by term: Leukodystrophy ClinVar PMID:25741868, PMID:31587869 NCBI chr 1:180,942,286...180,975,106
Ensembl chr 1:180,942,344...180,975,112
JBrowse link
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dll3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by term: Leukodystrophy and acquired microcephaly with or without dystonia ClinVar PMID:25741868 NCBI chr 7:28,293,555...28,301,785
Ensembl chr 7:28,293,553...28,302,238
JBrowse link
G Plekhg2 pleckstrin homology domain containing, family G (with RhoGef domain) member 2 ISO ClinVar Annotator: match by term: Leukodystrophy and acquired microcephaly with or without dystonia ClinVar
OMIM
PMID:25741868, PMID:26573021 NCBI chr 7:28,359,603...28,372,681
Ensembl chr 7:28,359,604...28,372,599
JBrowse link
leukoencephalopathy with vanishing white matter term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter ClinVar PMID:25741868 NCBI chr  X:57,231,485...57,338,758
Ensembl chr  X:57,231,485...57,338,729
JBrowse link
G Eif2b1 eukaryotic translation initiation factor 2B, subunit 1 (alpha) ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter OMIM
ClinVar
PMID:11835386, PMID:15776425, PMID:16807905, PMID:18263758, PMID:25741868, PMID:25761052, PMID:25843247, PMID:26285592, PMID:28492532 NCBI chr 5:124,570,214...124,579,131
Ensembl chr 5:124,570,213...124,579,131
JBrowse link
G Eif2b2 eukaryotic translation initiation factor 2B, subunit 2 beta ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter
ClinVar Annotator: match by term: Ovarioleukodystrophy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by synonym: Ovarioleukodystrophy
OMIM
ClinVar
CTD
PMID:11704758, PMID:12707859, PMID:14566705, PMID:15054402, PMID:15060152, PMID:15136673, PMID:15776425, PMID:18263758, PMID:20301435, PMID:21484434, PMID:21560189, PMID:22128017, PMID:22430157, PMID:24033266, PMID:25741868, PMID:26740508, PMID:27159321, PMID:28492532, PMID:29632131, PMID:29706645, PMID:30266093, PMID:11704758 RGD:734925 NCBI chr12:85,219,481...85,226,628
Ensembl chr12:85,219,481...85,226,628
JBrowse link
G Eif2b3 eukaryotic translation initiation factor 2B, subunit 3 ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter OMIM
ClinVar
PMID:11835386, PMID:18414213, PMID:19158808, PMID:20301435, PMID:21484434, PMID:22312164, PMID:23932106, PMID:24028880, PMID:25079571, PMID:25326635, PMID:25741868, PMID:25761052, PMID:26162493, PMID:26467025, PMID:28492532, PMID:31072091 NCBI chr 4:117,019,399...117,086,852
Ensembl chr 4:117,019,402...117,087,306
JBrowse link
G Eif2b4 eukaryotic translation initiation factor 2B, subunit 4 delta ISO
IEA
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter
OMIM:603896
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by synonym: Ovarioleukodystrophy
OMIM
ClinVar
MouseDO
CTD
PMID:11835386, PMID:12707859, PMID:25741868, PMID:25761052, PMID:25843247, PMID:26467025, PMID:26553438, PMID:28008009, PMID:28492532 NCBI chr 5:31,187,558...31,193,139
Ensembl chr 5:31,187,558...31,193,430
JBrowse link
G Eif2b5 eukaryotic translation initiation factor 2B, subunit 5 epsilon ISO
IEA
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter
ClinVar Annotator: match by term: Ovarioleukodystrophy
OMIM:603896
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by synonym: Ovarioleukodystrophy
OMIM
ClinVar
MouseDO
CTD
PMID:9710032, PMID:11704758, PMID:12325082, PMID:12499492, PMID:12707859, PMID:14694060, PMID:15054402, PMID:15060152, PMID:15136673, PMID:15136689, PMID:15136690, PMID:15507143, PMID:15723074, PMID:15776425, PMID:16041584, PMID:16807905, PMID:17439913, PMID:17646634, PMID:18005052, PMID:18263758, PMID:18266750, PMID:18294360, PMID:18678442, PMID:18813718, PMID:18845387, PMID:19023445, PMID:19531691, PMID:19625339, PMID:20301435, PMID:20838246, PMID:20958979, PMID:20975056, PMID:21307862, PMID:21484434, PMID:21560189, PMID:22238342, PMID:22699478, PMID:22952606, PMID:24033266, PMID:24482476, PMID:24938145, PMID:25089094, PMID:25326635, PMID:25525159, PMID:25741868, PMID:25761052, PMID:26112719, PMID:26467025, PMID:26671108, PMID:28492532, PMID:28953922, PMID:11704758 RGD:734925 NCBI chr16:20,498,795...20,509,325
Ensembl chr16:20,498,817...20,509,323
JBrowse link
G Mlh3 mutL homolog 3 ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter ClinVar PMID:25741868 NCBI chr12:85,234,466...85,270,647
Ensembl chr12:85,234,520...85,270,599
JBrowse link
Meckel syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp3 nephronophthisis 3 (adolescent) ISO ClinVar Annotator: match by term: Meckel syndrome type 7
ClinVar Annotator: match by term: Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia
OMIM
ClinVar
PMID:12872122, PMID:17855640, PMID:18371931, PMID:20007846, PMID:23188109, PMID:23559409, PMID:24033266, PMID:25741868, PMID:26184788, PMID:26673778, PMID:27894351, PMID:28492532, PMID:30311386 NCBI chr 9:104,002,544...104,043,811
Ensembl chr 9:104,002,544...104,043,818
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 hepatocyte cell adhesion molecule ISO
IEA
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
PMID:21419380, PMID:25741868, PMID:28492532 NCBI chr 9:37,367,356...37,386,572
Ensembl chr 9:37,367,351...37,386,575
JBrowse link
G Mlc1 megalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human) ISO ClinVar Annotator: match by OMIM:604004
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11254442, PMID:25741868 NCBI chr15:88,955,884...88,982,693
Ensembl chr15:88,955,884...88,979,007
JBrowse link
megalencephalic leukoencephalopathy with subcortical cysts 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hepacam hepatocyte cell adhesion molecule ISS
ISO
OMIM:604004
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1
MouseDO
ClinVar
PMID:25741868, PMID:29389947 NCBI chr 9:37,367,356...37,386,572
Ensembl chr 9:37,367,351...37,386,575
JBrowse link
G Mlc1 megalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human) ISO
IEA
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1
OMIM:604004
ClinVar
MouseDO
OMIM
PMID:11254442, PMID:11935341, PMID:12189496, PMID:12497630, PMID:12939431, PMID:14572144, PMID:14615938, PMID:15037685, PMID:15367490, PMID:15992519, PMID:16470554, PMID:16652334, PMID:18757878, PMID:19168821, PMID:20301707, PMID:20560255, PMID:21145992, PMID:21160490, PMID:21555057, PMID:21624973, PMID:22006981, PMID:22328087, PMID:22405205, PMID:22416245, PMID:23793458, PMID:23851226, PMID:25497041, PMID:25741868, PMID:25767710, PMID:26349194, PMID:27081509, PMID:27322623, PMID:28492532, PMID:28588848, PMID:30311386 NCBI chr15:88,955,884...88,982,693
Ensembl chr15:88,955,884...88,979,007
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 hepatocyte cell adhesion molecule ISO ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2a
ClinVar Annotator: match by OMIM:613925
OMIM
ClinVar
PMID:21419380, PMID:25741868, PMID:30311386 NCBI chr 9:37,367,356...37,386,572
Ensembl chr 9:37,367,351...37,386,575
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 hepatocyte cell adhesion molecule ISO ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with mental retardation
ClinVar Annotator: match by OMIM:613926
OMIM
ClinVar
PMID:20517947, PMID:21419380, PMID:25741868 NCBI chr 9:37,367,356...37,386,572
Ensembl chr 9:37,367,351...37,386,575
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 thymoma viral proto-oncogene 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22729224 NCBI chr 1:177,020,076...177,261,781
Ensembl chr 1:177,020,073...177,258,203
JBrowse link
G Ccnd2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24705253, PMID:29642246 NCBI chr 6:127,125,162...127,152,188
Ensembl chr 6:127,125,162...127,152,193
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22729224 NCBI chr 3:32,397,065...32,466,112
Ensembl chr 3:32,397,671...32,468,486
JBrowse link
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME
CTD
ClinVar
PMID:16357568, PMID:21984976, PMID:22729224, PMID:22989095, PMID:23449172, PMID:23592320, PMID:23606607, PMID:23619167, PMID:23745724, PMID:24497998, PMID:25741868, PMID:26520804, PMID:26860062, PMID:27854409, PMID:28086757, PMID:28492532, PMID:28502725, PMID:30311386 NCBI chr 8:70,768,176...70,776,712
Ensembl chr 8:70,768,176...70,776,713
JBrowse link
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 OMIM
ClinVar
PMID:16357568, PMID:17675034, PMID:21984976, PMID:22729224, PMID:22989095, PMID:23449172, PMID:23592320, PMID:23606607, PMID:23619167, PMID:23745724, PMID:24497998, PMID:25741868, PMID:26520804, PMID:26860062, PMID:27854409, PMID:28086757, PMID:28492532, PMID:28502725, PMID:30311386 NCBI chr 8:70,768,176...70,776,712
Ensembl chr 8:70,768,176...70,776,713
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 1700016C15Rik RIKEN cDNA 1700016C15 gene ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:177,728,137...177,753,309
Ensembl chr 1:177,729,814...177,753,324
JBrowse link
G Akt3 thymoma viral proto-oncogene 3 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 OMIM
ClinVar
PMID:10208883, PMID:15627943, PMID:21159799, PMID:21800092, PMID:22228622, PMID:22500628, PMID:22729223, PMID:22729224, PMID:23745724, PMID:24705253, PMID:25087610, PMID:25416470, PMID:25523067, PMID:25741868, PMID:28086757, PMID:28190287, PMID:28492532 NCBI chr 1:177,020,076...177,261,781
Ensembl chr 1:177,020,073...177,258,203
JBrowse link
G Cep170 centrosomal protein 170 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:176,729,072...176,813,979
Ensembl chr 1:176,733,653...176,814,067
JBrowse link
G Pld5 phospholipase D family, member 5 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:175,962,301...176,281,512
Ensembl chr 1:175,962,306...176,275,312
JBrowse link
G Sdccag8 serologically defined colon cancer antigen 8 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:176,814,660...177,020,438
Ensembl chr 1:176,814,660...177,020,437
JBrowse link
G Zbtb18 zinc finger and BTB domain containing 18 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:177,442,351...177,450,764
Ensembl chr 1:177,442,351...177,450,764
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: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 OMIM
ClinVar
PMID:15627943, PMID:16766701, PMID:17486076, PMID:19641124, PMID:22228622, PMID:22500628, PMID:22729222, PMID:22729223, PMID:22729224, PMID:23624932, PMID:24705253, PMID:25741868, PMID:26520804, PMID:28941273 NCBI chr 6:127,125,162...127,152,188
Ensembl chr 6:127,125,162...127,152,193
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 IEA MouseDO NCBI chr19:46,689,906...46,703,382
Ensembl chr19:46,689,906...46,703,382
JBrowse link
G Ireb2 iron responsive element binding protein 2 IEP protein:increased expression:brain (mouse) RGD PMID:26506412 RGD:11344088 NCBI chr 9:54,862,658...54,912,534
Ensembl chr 9:54,863,789...54,912,530
JBrowse link
G Naga N-acetyl galactosaminidase, alpha ISO Schindler disease, OMIM:609241, DNA:point mutation:exon:E325K
CTD Direct Evidence: marker/mechanism
CTD PMID:2243144, PMID:2243144 RGD:1600557 NCBI chr15:82,329,532...82,338,884
Ensembl chr15:82,329,532...82,338,925
JBrowse link
G Pla2g6 phospholipase A2, group VI IAGP
ISO
IMP
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 chr15:79,286,228...79,328,385
Ensembl chr15:79,286,228...79,328,390
JBrowse link
G Tecpr2 tectonin beta-propeller repeat containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26555167 NCBI chr12:110,889,243...110,972,394
Ensembl chr12:110,889,264...110,972,394
JBrowse link
G Uchl1 ubiquitin carboxy-terminal hydrolase L1 IAGP DNA:deletion RGD PMID:11555633 RGD:1302546 NCBI chr 5:66,676,121...66,687,234
Ensembl chr 5:66,676,091...66,687,234
JBrowse link
G Uchl3 ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) IGI RGD PMID:11555633 RGD:1302546 NCBI chr14:101,653,892...101,696,125
Ensembl chr14:101,653,967...101,696,125
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 chr17:45,503,515...45,520,843
Ensembl chr17:45,506,841...45,520,843
JBrowse link
G Crat carnitine acetyltransferase ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:25741868, PMID:29395073 NCBI chr 2:30,400,476...30,416,017
Ensembl chr 2:30,400,471...30,415,813
JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 1, atypical
ClinVar Annotator: match by term: Iron accumulation in brain
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11479594, PMID:12510040, PMID:15565311, PMID:15659606, PMID:15834858, PMID:16272150, PMID:16437574, PMID:16450344, PMID:20629144, PMID:22221393, PMID:22416811, PMID:23968566, PMID:24075960, PMID:24215330, PMID:24348190, PMID:25741868, PMID:25802776, PMID:26087139, PMID:26795593, PMID:27185474, PMID:28492532, PMID:28708303, PMID:28781879, PMID:29590070, PMID:30311386 NCBI chr 2:131,262,008...131,299,188
Ensembl chr 2:131,262,495...131,299,188
JBrowse link
G Pla2g6 phospholipase A2, group VI ISO ClinVar Annotator: match by term: Iron accumulation in brain
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
ClinVar PMID:10227637, PMID:12843330, PMID:16783378, PMID:17033970, PMID:18359254, PMID:18414213, PMID:18443314, PMID:18570303, PMID:18799783, PMID:19138334, PMID:19893029, PMID:20301718, PMID:20584031, PMID:20619503, PMID:20886109, PMID:20938027, PMID:20947703, PMID:22934738, PMID:24033266, PMID:24108619, PMID:24130795, PMID:24745848, PMID:24800972, PMID:24847269, PMID:25164370, PMID:25326635, PMID:25326637, PMID:25558065, PMID:25741868, PMID:26668131, PMID:27196560, PMID:27378808, PMID:28492532, PMID:29472584, PMID:29915382, PMID:30340910, PMID:30619057 NCBI chr15:79,286,228...79,328,385
Ensembl chr15:79,286,228...79,328,390
JBrowse link
G Reps1 RalBP1 associated Eps domain containing protein ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:29395073 NCBI chr10:18,055,562...18,125,155
Ensembl chr10:18,055,861...18,125,155
JBrowse link
G Wdr45 WD repeat domain 45 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
CTD
ClinVar
PMID:23176820, PMID:23435086, PMID:24368176, PMID:24621584, PMID:25741868, PMID:25744623, PMID:28492532, PMID:28711740 NCBI chr  X:7,721,987...7,728,201
Ensembl chr  X:7,714,333...7,728,206
JBrowse link
neurodegeneration with brain iron accumulation 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pla2g6 phospholipase A2, group VI ISO
IEA
ClinVar Annotator: match by term: PLA2G6-associated neurodegeneration
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A
OMIM:256600
DNA:deletions, missense mutations, nonsense mutation: exon:multiple
OMIM
ClinVar
MouseDO
PMID:10227637, PMID:12843330, PMID:16783378, PMID:17033970, PMID:18359254, PMID:18414213, PMID:18443314, PMID:18570303, PMID:18799783, PMID:18981035, PMID:19138334, PMID:19893029, PMID:20186954, PMID:20584031, PMID:20619503, PMID:20669327, PMID:20886109, PMID:20938027, PMID:20947703, PMID:21368765, PMID:21700586, PMID:21812034, PMID:22213678, PMID:22934738, PMID:23182313, PMID:24033266, PMID:24088041, PMID:24108619, PMID:24130795, PMID:24745848, PMID:24800972, PMID:24847269, PMID:25164370, PMID:25174650, PMID:25326635, PMID:25326637, PMID:25660576, PMID:25741868, PMID:26196026, PMID:26467025, PMID:26539891, PMID:26633545, PMID:26668131, PMID:27127721, PMID:27196560, PMID:27268037, PMID:27294386, PMID:27378808, PMID:27709683, PMID:27942883, PMID:28295203, PMID:28492532, PMID:28821231, PMID:29124790, PMID:29915382, PMID:30042723, PMID:30065071, PMID:30232368, PMID:30302010, PMID:30340910, PMID:32860008, PMID:22934738 RGD:12910703 NCBI chr15:79,286,228...79,328,385
Ensembl chr15:79,286,228...79,328,390
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 OMIM:610217
OMIM
ClinVar
PMID:10227637, PMID:12843330, PMID:16783378, PMID:17033970, PMID:18414213, PMID:18443314, PMID:18570303, PMID:18799783, PMID:18981035, PMID:20301718, PMID:20619503, PMID:20669327, PMID:20886109, PMID:20938027, PMID:24088041, PMID:24130795, PMID:24745848, PMID:24800972, PMID:24847269, PMID:25741868, PMID:26196026, PMID:26633545, PMID:26668131, PMID:27268037, PMID:28492532, PMID:29472584, PMID:29915382, PMID:30619057, PMID:32581362, PMID:32860008 NCBI chr15:79,286,228...79,328,385
Ensembl chr15:79,286,228...79,328,390
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 polypeptide 1 ISO DNA:insertion:exon:460_461insA(human)
ClinVar Annotator: match by term: Neuroferritinopathy
ClinVar Annotator: match by OMIM:606159
DNA:mutations:exon:
DNA:duplication:cds:458dupA(human)
ClinVar
OMIM
PMID:11438811, PMID:12746423, PMID:16116125, PMID:17182944, PMID:18413574, PMID:18414213, PMID:18854324, PMID:25741868, PMID:28492532, PMID:17142829, PMID:19117339, PMID:18854324 RGD:5509859, RGD:5509861, RGD:5509860 NCBI chr 7:45,457,944...45,459,886
Ensembl chr 7:45,457,944...45,459,884
JBrowse link
G Gys1 glycogen synthase 1, muscle ISO ClinVar Annotator: match by term: Neuroferritinopathy ClinVar PMID:17182944, PMID:18414213, PMID:25741868, PMID:28492532 NCBI chr 7:45,434,839...45,456,617
Ensembl chr 7:45,434,844...45,456,619
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 1600014C10Rik RIKEN cDNA 1600014C10 gene ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 4
ClinVar Annotator: match by term: MITOCHONDRIAL PROTEIN-ASSOCIATED NEURODEGENERATION
ClinVar Annotator: match by OMIM:614298
OMIM
ClinVar
PMID:18414213, PMID:20039086, PMID:21981780, PMID:22508347, PMID:22584950, PMID:23166001, PMID:23269600, PMID:23278385, PMID:23436634, PMID:23494994, PMID:23857908, PMID:24033266, PMID:24209434, PMID:25592411, PMID:25741868, PMID:26187298, PMID:26539891, PMID:27112773, PMID:28347615, PMID:28492532, PMID:28641177, PMID:29295770, PMID:29389947, PMID:30088953, PMID:30392167, PMID:31087512, PMID:32581362 NCBI chr 7:38,183,217...38,197,568
Ensembl chr 7:38,183,217...38,197,568
JBrowse link
neurodegeneration with brain iron accumulation 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otud5 OTU domain containing 5 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar NCBI chr  X:7,839,613...7,876,626
Ensembl chr  X:7,841,364...7,876,626
JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar Annotator: match by term: Beta-Propeller protein-associated Neurodegeneration
ClinVar Annotator: match by OMIM:300894
OMIM
ClinVar
PMID:20562859, PMID:22892189, PMID:23176820, PMID:23435086, PMID:23687123, PMID:24368176, PMID:24621584, PMID:24847269, PMID:24896178, PMID:25263061, PMID:25326635, PMID:25356899, PMID:25592411, PMID:25741868, PMID:25741887, PMID:25744623, PMID:26173968, PMID:26467025, PMID:26609730, PMID:26633542, PMID:26790960, PMID:27030146, PMID:27159028, PMID:27652284, PMID:28191889, PMID:28492532, PMID:28554332, PMID:28711740, PMID:28932395, PMID:29082105, PMID:29171013, PMID:29389947, PMID:29981852, PMID:30311386, PMID:30612247, PMID:30713893 NCBI chr  X:7,721,987...7,728,201
Ensembl chr  X:7,714,333...7,728,206
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 ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 6
ClinVar Annotator: match by OMIM:615643
OMIM
ClinVar
PMID:24360804, PMID:25741868, PMID:28489334, PMID:28492532 NCBI chr11:101,082,565...101,086,619
Ensembl chr11:101,082,565...101,086,619
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 protein ISO ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 ClinVar
OMIM
PMID:25741868, PMID:29395073 NCBI chr10:18,055,562...18,125,155
Ensembl chr10:18,055,861...18,125,155
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 acetyltransferase ISO ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 OMIM
ClinVar
PMID:25741868, PMID:29395073 NCBI chr 2:30,400,476...30,416,017
Ensembl chr 2:30,400,471...30,415,813
JBrowse link
normal pressure hydrocephalus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap43 cilia and flagella associated protein 43 ISO
IEA
OMIM:236690
ClinVar Annotator: match by term: Normal pressure hydrocephalus
OMIM
MouseDO
ClinVar
PMID:31004071 NCBI chr19:47,736,857...47,837,454
Ensembl chr19:47,736,857...47,919,287
JBrowse link
G Pmpca peptidase (mitochondrial processing) alpha ISO ClinVar Annotator: match by term: Normal pressure hydrocephalus ClinVar PMID:10528257, PMID:25808372 NCBI chr 2:26,389,348...26,397,121
Ensembl chr 2:26,389,339...26,397,122
JBrowse link
obstructive hydrocephalus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo9a myosin IXa IEA MouseDO NCBI chr 9:59,750,848...59,928,866
Ensembl chr 9:59,750,896...59,928,866
JBrowse link
pantothenate kinase-associated neurodegeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar Annotator: match by OMIM:234200
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1301187, PMID:1734303, PMID:7898702, PMID:11479594, PMID:12058097, PMID:12510040, PMID:12811783, PMID:14580665, PMID:14638969, PMID:15465096, PMID:15565311, PMID:15659606, PMID:15834858, PMID:15843062, PMID:15911822, PMID:16023068, PMID:16240131, PMID:16272150, PMID:16437574, PMID:16450344, PMID:17903678, PMID:19224615, PMID:20193558, PMID:20603201, PMID:20629144, PMID:21198414, PMID:21459825, PMID:21480873, PMID:22103354, PMID:22127788, PMID:22221393, PMID:22416811, PMID:22682757, PMID:23634310, PMID:23757202, PMID:23968566, PMID:24033266, PMID:24075960, PMID:24209433, PMID:24215330, PMID:24348190, PMID:24712887, PMID:25741868, PMID:25802776, PMID:25915509, PMID:26087139, PMID:26467025, PMID:26795593, PMID:26828213, PMID:27185474, PMID:28094106, PMID:28357202, PMID:28492532, PMID:28708303, PMID:28781879, PMID:28821231, PMID:28845923, PMID:28881514, PMID:29590070, PMID:30311386, PMID:30681573, PMID:32581362 NCBI chr 2:131,262,008...131,299,188
Ensembl chr 2:131,262,495...131,299,188
JBrowse link
G Snca synuclein, alpha ISO RGD PMID:10934140 RGD:6480098 NCBI chr 6:60,731,573...60,829,855
Ensembl chr 6:60,731,575...60,829,855
JBrowse link
G Sncb synuclein, beta ISO RGD PMID:10934140 RGD:6480098 NCBI chr13:54,758,860...54,766,622
Ensembl chr13:54,758,860...54,766,595
JBrowse link
G Sncg synuclein, gamma ISO RGD PMID:10934140 RGD:6480098 NCBI chr14:34,370,274...34,374,669
Ensembl chr14:34,370,274...34,374,789
JBrowse link
Pelizaeus-Merzbacher disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjc2 gap junction protein, gamma 2 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:23143715, PMID:25741868, PMID:31319225 NCBI chr11:59,175,564...59,183,213
Ensembl chr11:59,175,568...59,183,213
JBrowse link
G Lmnb1 lamin B1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:56,707,813...56,753,424
Ensembl chr18:56,707,813...56,753,424
JBrowse link
G Plp1 proteolipid protein (myelin) 1 ISO
IEA
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, atypical
OMIM:312080
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, mild
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, connatal
ClinVar Annotator: match by OMIM:312080
DNA:missense mutation:cds:p.A246T (human)
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, atypical, UMLS MESH term: Atypical Pelizaeus Merzbacher Disease
OMIM
ClinVar
MouseDO
CTD
PMID:1376966, PMID:1384324, PMID:1605230, PMID:1707231, PMID:1715570, PMID:1720927, PMID:2479017, PMID:2480601, PMID:2773936, PMID:3827224, PMID:7573159, PMID:7574457, PMID:7683951, PMID:8696336, PMID:8723686, PMID:8786077, PMID:9056547, PMID:9482656, PMID:9633722, PMID:9634530, PMID:11071483, PMID:12297985, PMID:12605435, PMID:12910435, PMID:16380909, PMID:18571143, PMID:18835559, PMID:19396823, PMID:20301361, PMID:24088041, PMID:25326635, PMID:25491635, PMID:25741868, PMID:26125040, PMID:26467025, PMID:26633545, PMID:27535533, PMID:28492532, PMID:29451896, PMID:10425042 RGD:1358559 NCBI chr  X:136,820,148...136,838,582
Ensembl chr  X:136,822,671...136,839,733
JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, connatal
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, atypical
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, mild
ClinVar PMID:1376966, PMID:1384324, PMID:1605230, PMID:1707231, PMID:1715570, PMID:2479017, PMID:2480601, PMID:2773936, PMID:3827224, PMID:7573159, PMID:7574457, PMID:7683951, PMID:8696336, PMID:8723686, PMID:8786077, PMID:9056547, PMID:9482656, PMID:11071483, PMID:12910435, PMID:19396823, PMID:20301361, PMID:24088041, PMID:25326635, PMID:25491635, PMID:25741868, PMID:26125040, PMID:26467025, PMID:26633545, PMID:27535533, PMID:28492532, PMID:29451896 NCBI chr  X:136,858,147...136,868,556
Ensembl chr  X:136,858,147...136,868,755
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-Coenzyme A oxidase 1, palmitoyl ISO
IEA
ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency
ClinVar Annotator: match by term: ACOX1-related condition
ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy
OMIM:264470
ClinVar Annotator: match by OMIM:264470
OMIM
ClinVar
MouseDO
PMID:2894756, PMID:8040306, PMID:8279468, PMID:11815777, PMID:17458872, PMID:18536048, PMID:24033266, PMID:25326637, PMID:25741868, PMID:26965209, PMID:28492532, PMID:32169171 NCBI chr11:116,171,883...116,199,045
Ensembl chr11:116,171,888...116,199,045
JBrowse link
G Ten1 TEN1 telomerase capping complex subunit ISO ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy ClinVar NCBI chr11:116,198,855...116,215,318
Ensembl chr11:116,198,855...116,215,318
JBrowse link
peroxisome biogenesis disorder 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex5 peroxisomal biogenesis factor 5 ISO OMIM NCBI chr 6:124,396,816...124,415,944
Ensembl chr 6:124,396,816...124,415,067
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 3:87,987,531...88,002,175
Ensembl chr 3:87,987,531...88,000,230
JBrowse link
G L1cam L1 cell adhesion molecule ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:22186713 RGD:6483013 NCBI chr  X:73,853,778...73,880,838
Ensembl chr  X:73,853,778...73,896,105
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 ClinVar
OMIM
PMID:25741868, PMID:26792856 NCBI chr 7:98,213,808...98,321,208
Ensembl chr 7:98,206,389...98,321,208
JBrowse link
Recurrent Metabolic Encephalomyopathic Crises with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tango2 transport and golgi organization 2 ISO ClinVar Annotator: match by term: METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION
ClinVar Annotator: match by term: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION
ClinVar Annotator: match by term: Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
ClinVar
OMIM
PMID:24033266, PMID:25741868, PMID:26805781, PMID:26805782, PMID:27711071, PMID:29369572, PMID:30245509, PMID:32576985 NCBI chr16:18,300,825...18,348,098
Ensembl chr16:18,300,825...18,348,103
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 nephronophthisis 3 (adolescent) ISO ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 1 OMIM
ClinVar
PMID:8874114, PMID:12872122, PMID:17855640, PMID:18371931, PMID:20007846, PMID:23188109, PMID:23559409, PMID:24033266, PMID:25741868, PMID:26184788, PMID:26673778, PMID:27894351, PMID:28492532, PMID:28991257, PMID:30311386 NCBI chr 9:104,002,544...104,043,811
Ensembl chr 9:104,002,544...104,043,818
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-Coenzyme A binding domain containing 5 ISO ClinVar Annotator: match by term: RETINAL DYSTROPHY WITH LEUKODYSTROPHY ClinVar
OMIM
PMID:23105016 NCBI chr 2:23,068,166...23,114,513
Ensembl chr 2:23,068,167...23,115,558
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:7,593,809...7,605,420
Ensembl chr  X:7,593,809...7,605,517
JBrowse link
G Washc5 WASH complex subunit 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:59,331,863...59,374,194
Ensembl chr15:59,331,997...59,374,167
JBrowse link
Ritscher-Schinzel syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 ClinVar PMID:19377476, PMID:21826058, PMID:24916641 NCBI chr  X:7,593,809...7,605,420
Ensembl chr  X:7,593,809...7,605,517
JBrowse link
G Dpysl5 dihydropyrimidinase-like 5 ISO ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 ClinVar PMID:31474318 NCBI chr 5:30,711,564...30,799,369
Ensembl chr 5:30,711,564...30,799,375
JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 OMIM
ClinVar
PMID:7604842, PMID:17160902, PMID:23455931, PMID:24065355, PMID:25741868, PMID:27957547, PMID:28492532 NCBI chr15:59,331,863...59,374,194
Ensembl chr15:59,331,997...59,374,167
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: Ritscher-schinzel syndrome 2
ClinVar Annotator: match by term: RITSCHER-SCHINZEL SYNDROME 2
OMIM
ClinVar
PMID:19377476, PMID:21826058, PMID:24916641, PMID:25741868 NCBI chr  X:7,593,809...7,605,420
Ensembl chr  X:7,593,809...7,605,517
JBrowse link
Schindler Disease, Type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naga N-acetyl galactosaminidase, alpha ISO ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 2
ClinVar Annotator: match by term: SCHINDLER DISEASE, TYPE II
ClinVar Annotator: match by term: Schindler disease, type 1
ClinVar Annotator: match by OMIM:609242
ClinVar Annotator: match by OMIM:609241
ClinVar Annotator: match by term: NAGA DEFICIENCY, TYPE I
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1131374, PMID:2243144, PMID:2372288, PMID:2564952, PMID:7707696, PMID:8040340, PMID:8071745, PMID:8782044, PMID:11251574, PMID:11313741, PMID:14685826, PMID:15619430, PMID:17171432, PMID:18414213, PMID:19683538, PMID:24033266, PMID:25741868, PMID:27138754, PMID:28492532, PMID:29431110, PMID:30487145, PMID:32860008 NCBI chr15:82,329,532...82,338,884
Ensembl chr15:82,329,532...82,338,925
JBrowse link
G Wbp2nl WBP2 N-terminal like ISO ClinVar Annotator: match by term: Schindler disease, type 1 ClinVar NCBI chr15:82,298,925...82,314,647
Ensembl chr15:82,298,954...82,314,623
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, sigma 2 subunit ISO
IEA
OMIM:304340
ClinVar Annotator: match by term: Pettigrew syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mental retardation X-linked syndromic 5
ClinVar Annotator: match by OMIM:304340
OMIM
MouseDO
ClinVar
CTD
PMID:2018058, PMID:5054319, PMID:10398241, PMID:12599187, PMID:17186471, PMID:17617514, PMID:18414213, PMID:23756445, PMID:25741868 NCBI chr  X:163,908,454...163,933,666
Ensembl chr  X:163,909,017...163,933,666
JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: Pettigrew syndrome ClinVar PMID:25741868 NCBI chr  X:38,531,616...38,576,196
Ensembl chr  X:38,533,274...38,576,196
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 family member 2 ISO ClinVar Annotator: match by term: Ventriculomegaly with cystic kidney disease ClinVar
OMIM
PMID:25557780, PMID:25741868 NCBI chr 2:37,776,225...37,799,103
Ensembl chr 2:37,776,249...37,799,103
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: X-linked hydrocephalus
ClinVar Annotator: match by term: Hydrocephalus due to aqueductal stenosis
CTD Direct Evidence: marker/mechanism
C57BL/6J background
ClinVar
CTD
OMIM
PMID:7881431, PMID:7920659, PMID:7920660, PMID:9300653, PMID:10469653, PMID:11772994, PMID:18414213, PMID:25741868, PMID:28492532, PMID:31680349, PMID:7920659, PMID:30738385, PMID:19565280 RGD:6483012, RGD:14695001, RGD:6483078 NCBI chr  X:73,853,778...73,880,838
Ensembl chr  X:73,853,778...73,896,105
JBrowse link
X-Linked Hydrocephalus, with Congenital Idiopathic Intestinal Pseudoobstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Hydrocephalus, X-linked, with hirschsprung disease
ClinVar Annotator: match by term: HYDROCEPHALUS, X-LINKED, WITH HIRSCHSPRUNG DISEASE
ClinVar PMID:9279760, PMID:11857550, PMID:12650797, PMID:15148591, PMID:15368500, PMID:28492532 NCBI chr  X:73,853,778...73,880,838
Ensembl chr  X:73,853,778...73,896,105
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 chr12:54,892,989...55,014,371
Ensembl chr12:54,892,989...55,014,348
JBrowse link
G Fancb Fanconi anemia, complementation group B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL-H
CTD
ClinVar
PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr  X:164,980,480...164,997,272
Ensembl chr  X:164,980,592...164,997,272
JBrowse link
G Fancl Fanconi anemia, complementation group L ISO ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked ClinVar PMID:25754594 NCBI chr11:26,387,084...26,471,883
Ensembl chr11:26,386,135...26,471,876
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL-H
ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly
CTD
ClinVar
PMID:9399897, PMID:9467011, PMID:10232405, PMID:10353779, PMID:10400993, PMID:10468583, PMID:10749983, PMID:10848731, PMID:11238682, PMID:11685670, PMID:11748304, PMID:12844284, PMID:14518070, PMID:15805158, PMID:17286265, PMID:17392703, PMID:17427195, PMID:17942903, PMID:19265751, PMID:19668082, PMID:21194675, PMID:21828076, PMID:21956414, PMID:22252256, PMID:22381246, PMID:23442912, PMID:23470840, PMID:23475934, PMID:23695273, PMID:24033266, PMID:24052722, PMID:24136893, PMID:24778394, PMID:25022750, PMID:25132236, PMID:25157968, PMID:25326635, PMID:25669429, PMID:25741868, PMID:25756585, PMID:27477328, PMID:27535533, PMID:28492532, PMID:28526761, PMID:30287823, PMID:32238909 NCBI chr19:32,757,577...32,826,160
Ensembl chr19:32,757,497...32,826,160
JBrowse link
G Sall1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: VACTERL-H ClinVar PMID:25741868 NCBI chr 8:89,027,242...89,044,162
Ensembl chr 8:89,027,235...89,044,162
JBrowse link
G Zic3 zinc finger protein of the cerebellum 3 ISO ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked
ClinVar Annotator: match by OMIM:314390
OMIM
ClinVar
PMID:2629409, PMID:14681828, PMID:17764085, PMID:23427188, PMID:24033266, PMID:24123890, PMID:25741868, PMID:26294094, PMID:28492532 NCBI chr  X:58,030,628...58,036,630
Ensembl chr  X:58,022,700...58,041,736
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13427
    disease of anatomical entity 12903
      nervous system disease 10459
        central nervous system disease 8832
          brain disease 8169
            cerebral degeneration 267
              Alpers-Huttenlocher syndrome + 5
              cerebral lipidosis 0
              hydrocephalus + 109
              leukodystrophy + 120
              neuroaxonal dystrophy + 33
              senile degeneration of brain 0
paths to the root

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