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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:hydrocephalus
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Accession:DOID:10908 term browser browse the term
Definition:A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head. (DO)
Synonyms:exact_synonym: Cerebral Ventriculomegaly;   Congenital Hydrocephalus;   HYC1;   aqueductal stenoses;   aqueductal stenosis;   cerebral ventriculomegalies;   fetal cerebral ventriculomegalies;   fetal cerebral ventriculomegaly;   hydrocephalus ex vacuo;   hydrocephalus ex-vacuos;   hydrocephalus, X-linked;   hydrocephaly;   nonsyndromic hydrocephalus, autosomal recessive;   nonsyndromic hydrocephalus, autosomal recessive 1;   post traumatic hydrocephalus;   ventriculomegaly
 narrow_synonym: SEVERE HYDROCEPHALUS
 broad_synonym: CCDC88C-RELATED CONDITION
 primary_id: MESH:D006849
 alt_id: MIM:236600;   MIM:236635
 xref: GARD:6682;   ICD10CM:G91;   MIM:PS236600;   NCI:C3111;   NCI:C98876;   ORDO:2182;   ORDO:2185
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
hydrocephalus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add1 adducin 1 IAGP OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 5:34,731,008...34,789,652
Ensembl chr 5:34,731,008...34,789,652 		JBrowse link
G Ak7 adenylate kinase 7 IAGP OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr12:105,670,115...105,748,706
Ensembl chr12:105,672,235...105,748,706 		JBrowse link
G Ak8 adenylate kinase 8 IAGP OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 2:28,588,287...28,703,177
Ensembl chr 2:28,590,176...28,703,177 		JBrowse link
G Aldh7a1 aldehyde dehydrogenase family 7, member A1 ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:9536098 PMID:17068770 PMID:17576681 PMID:23350806 PMID:25741868 More... NCBI chr18:56,657,794...56,706,112
Ensembl chr18:56,642,759...56,706,023 		JBrowse link
G Aqp1 aquaporin 1 disease_progression ISO RGD PMID:21135737 RGD:5148011 NCBI chr 6:55,313,284...55,325,540
Ensembl chr 6:55,313,417...55,325,540 		JBrowse link
G Aqp4 aquaporin 4 disease_progression ISO RGD PMID:21135737 RGD:5148011 NCBI chr18:15,522,451...15,544,039
Ensembl chr18:15,522,553...15,544,039 		JBrowse link
G Arid1b AT-rich interaction domain 1B IMP RGD PMID:28867767 RGD:13439722 NCBI chr17:5,044,481...5,397,931
Ensembl chr17:5,044,607...5,397,931 		JBrowse link
G Arx aristaless related homeobox ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:25741868 NCBI chr  X:92,330,113...92,341,963
Ensembl chr  X:92,330,051...92,341,963 		JBrowse link
G Asxl2 ASXL transcriptional regulator 2 ISO ClinVar Annotator: match by term: Severe hydrocephalus ClinVar PMID:25741868 NCBI chr12:3,476,892...3,560,811
Ensembl chr12:3,476,857...3,556,852 		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 7:24,677,592...24,705,338
Ensembl chr 7:24,677,592...24,705,383 		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 1:93,613,297...93,623,492
Ensembl chr 1:93,613,382...93,623,486 		JBrowse link
G Cacna1i calcium channel, voltage-dependent, alpha 1I subunit ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:25741868 NCBI chr15:80,171,439...80,282,493
Ensembl chr15:80,171,439...80,282,480 		JBrowse link
G Ccdc39 coiled-coil domain containing 39 IAGP
ISO		 OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO
RGD		 PMID:31771992 RGD:150521527 NCBI chr 3:33,864,906...33,898,473
Ensembl chr 3:33,866,511...33,898,459 		JBrowse link
G Ccdc85c coiled-coil domain containing 85C IAGP
ISO		 OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO
RGD		 PMID:31341137 RGD:150520163 NCBI chr12:108,169,858...108,244,111
Ensembl chr12:108,169,861...108,241,684 		JBrowse link
G Ccdc88c coiled-coil domain containing 88C ISO ClinVar Annotator: match by term: CCDC88C-related condition | ClinVar Annotator: match by term: Hydrocephalus | ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive 1 OMIM
ClinVar		 PMID:18414213 PMID:21031079 PMID:23042809 PMID:25062847 PMID:25741868 More... NCBI chr12:100,877,778...100,995,610
Ensembl chr12:100,877,782...100,995,315 		JBrowse link
G Ccnd2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chr 6:127,102,125...127,131,913
Ensembl chr 6:127,102,125...127,129,156 		JBrowse link
G Celsr2 cadherin, EGF LAG seven-pass G-type receptor 2 IAGP OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 3:108,298,164...108,323,416
Ensembl chr 3:108,298,167...108,323,383 		JBrowse link
G Crppa CDP-L-ribitol pyrophosphorylase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22522421 NCBI chr12:36,430,334...36,739,502
Ensembl chr12:36,431,449...36,739,502 		JBrowse link
G Dnah9 dynein, axonemal, heavy chain 9 ISO ClinVar Annotator: match by term: Hydrocephalus ClinVar PMID:25741868 PMID:28492532 PMID:30471718 NCBI chr11:65,722,150...66,059,379
Ensembl chr11:65,722,108...66,059,377 		JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive 1 ClinVar NCBI chr 9:21,711,476...21,764,006
Ensembl chr 9:21,711,156...21,763,931 		JBrowse link
G Dpcd deleted in primary ciliary dyskinesia IAGP OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr19:45,549,018...45,566,728
Ensembl chr19:45,549,054...45,568,202 		JBrowse link
G Dusp1 dual specificity phosphatase 1 ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:29983323 NCBI chr17:26,724,565...26,727,446
Ensembl chr17:26,724,564...26,781,102 		JBrowse link
G E2f5 E2F transcription factor 5 IAGP OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 3:14,638,370...14,671,369
Ensembl chr 3:14,643,701...14,671,369 		JBrowse link
G Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:29983323 NCBI chr17:26,779,736...26,875,908
Ensembl chr17:26,780,463...26,875,908 		JBrowse link
G Fgf18 fibroblast growth factor 18 ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:29983323 NCBI chr11:33,066,970...33,097,400
Ensembl chr11:33,067,430...33,097,400 		JBrowse link
G Foxc1 forkhead box C1 IMP RGD PMID:9635428 RGD:8662364 NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459 		JBrowse link
G Fsd1l fibronectin type III and SPRY domain containing 1-like ISO ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive 1 ClinVar PMID:25741868 NCBI chr 4:53,631,383...53,707,009
Ensembl chr 4:53,631,471...53,707,009 		JBrowse link
G Gldc glycine decarboxylase IMP RGD PMID:25736695 RGD:12904662 NCBI chr19:30,075,847...30,152,829
Ensembl chr19:30,075,847...30,152,829 		JBrowse link
G Hmgb1 high mobility group box 1 ISO RGD PMID:22116431 RGD:10402405 NCBI chr 5:148,983,512...148,989,867
Ensembl chr 5:148,983,512...149,121,299 		JBrowse link
G Hspd1 heat shock protein 1 (chaperonin) ISO RGD PMID:15964663 RGD:1624238 NCBI chr 1:55,116,992...55,127,402
Ensembl chr 1:55,116,994...55,127,402 		JBrowse link
G Hydin HYDIN, axonemal central pair apparatus protein IAGP
ISO		 DNA:nonsense mutation:exon (mouse)
OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219
CTD Direct Evidence: marker/mechanism		 MouseDO
CTD
RGD		 PMID:12719380 PMID:19029900 PMID:12719380 RGD:634487 NCBI chr 8:110,993,600...111,336,885
Ensembl chr 8:110,993,609...111,336,885 		JBrowse link
G Ift122 intraflagellar transport 122 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20493458 NCBI chr 6:115,830,340...115,903,660
Ensembl chr 6:115,830,431...115,903,660 		JBrowse link
G Ift56 intraflagellar transport 56 ISO ClinVar Annotator: match by term: Hydrocephalus ClinVar PMID:25741868 PMID:31595528 PMID:34177428 NCBI chr 6:38,358,400...38,404,582
Ensembl chr 6:38,358,404...38,404,582 		JBrowse link
G Ipo11 importin 11 ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:29983323 NCBI chr13:106,930,947...107,073,466
Ensembl chr13:106,930,947...107,073,466 		JBrowse link
G Itgb1 integrin beta 1 (fibronectin receptor beta) ISO RGD PMID:19726708 RGD:2325325 NCBI chr 8:129,412,135...129,460,060
Ensembl chr 8:129,412,135...129,459,681 		JBrowse link
G Kcnt1 potassium channel, subfamily T, member 1 ISO ClinVar Annotator: match by term: Hydrocephalus ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:25,753,807...25,808,285
Ensembl chr 2:25,753,746...25,808,285 		JBrowse link
G Kif27 kinesin family member 27 IAGP OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr13:58,432,541...58,512,559
Ensembl chr13:58,435,316...58,506,936 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Severe hydrocephalus | ClinVar Annotator: match by term: X-linked hydrocephalus ClinVar PMID:7562969 PMID:7762552 PMID:7881431 PMID:7920659 PMID:8062435 More... NCBI chr  X:72,897,384...72,924,843
Ensembl chr  X:72,897,384...72,939,711 		JBrowse link
G Llgl1 LLGL1 scribble cell polarity complex component IMP RGD PMID:15037549 RGD:1300301 NCBI chr11:60,590,501...60,605,012
Ensembl chr11:60,590,549...60,605,012 		JBrowse link
G Mboat7 membrane bound O-acyltransferase domain containing 7 IAGP OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 7:3,680,788...3,696,188
Ensembl chr 7:3,680,788...3,696,522 		JBrowse link
G Mpdz multiple PDZ domain crumbs cell polarity complex component ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:23240096 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28556411 NCBI chr 4:81,196,736...81,361,112
Ensembl chr 4:81,196,742...81,361,052 		JBrowse link
G Neurl1b neuralized E3 ubiquitin protein ligase 1B ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:29983323 NCBI chr17:26,633,833...26,665,295
Ensembl chr17:26,633,803...26,665,323 		JBrowse link
G Nme5 NME/NM23 family member 5 IAGP OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr18:34,695,687...34,712,168
Ensembl chr18:34,695,687...34,712,168 		JBrowse link
G Nme7 NME/NM23 family member 7 IAGP OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 1:164,135,091...164,264,870
Ensembl chr 1:164,131,690...164,265,294 		JBrowse link
G Npm1 nucleophosmin 1 ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:29983323 NCBI chr11:33,102,498...33,114,143
Ensembl chr11:33,102,287...33,113,206 		JBrowse link
G Ntf3 neurotrophin 3 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:11580868 RGD:1358755 NCBI chr 6:126,078,375...126,143,703
Ensembl chr 6:126,078,375...126,143,873 		JBrowse link
G Pdgfrb platelet derived growth factor receptor, beta polypeptide ISO ClinVar Annotator: match by term: Hydrocephalus ClinVar PMID:12181311 PMID:25292412 PMID:25741868 PMID:28334876 PMID:28639748 More... NCBI chr18:61,178,194...61,218,139
Ensembl chr18:61,178,222...61,218,133 		JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Hydrocephalus ClinVar PMID:25741868 NCBI chr 4:147,994,210...148,021,233
Ensembl chr 4:147,994,210...148,021,224 		JBrowse link
G Pomgnt1 protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Hydrocephalus ClinVar PMID:25741868 NCBI chr 4:116,007,700...116,017,041
Ensembl chr 4:115,981,037...116,017,046 		JBrowse link
G Pomk protein-O-mannose kinase IAGP OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 8:26,470,632...26,484,149
Ensembl chr 8:26,470,632...26,484,161 		JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:12369018 PMID:16575835 PMID:17559086 PMID:18640039 PMID:18752264 More... NCBI chr 2:32,126,321...32,145,017
Ensembl chr 2:32,126,602...32,145,017 		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 chr15:85,619,112...85,691,052
Ensembl chr15:85,619,184...85,687,020 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:28492532 PMID:29983323 NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412 		JBrowse link
G Ranbp17 RAN binding protein 17 ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:29983323 NCBI chr11:33,161,794...33,463,789
Ensembl chr11:33,161,795...33,463,746 		JBrowse link
G Setd2 SET domain containing 2 ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:31474318 NCBI chr 9:110,361,368...110,447,703
Ensembl chr 9:110,361,665...110,447,701 		JBrowse link
G Sgcd sarcoglycan, delta (dystrophin-associated glycoprotein) ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:29983323 NCBI chr11:46,861,904...47,880,309
Ensembl chr11:46,787,080...47,879,796 		JBrowse link
G Sin3a transcriptional regulator, SIN3A (yeast) ISO CTD Direct Evidence: marker/mechanism CTD PMID:27399968 NCBI chr 9:56,979,271...57,035,652
Ensembl chr 9:56,979,324...57,035,650 		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 9:109,961,129...110,069,773
Ensembl chr 9:109,946,776...110,069,246 		JBrowse link
G Sox3 SRY (sex determining region Y)-box 3 IAGP OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr  X:59,934,972...59,937,045
Ensembl chr  X:59,934,972...59,937,036 		JBrowse link
G Stk36 serine/threonine kinase 36 IAGP OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 1:74,640,583...74,676,053
Ensembl chr 1:74,640,604...74,676,053 		JBrowse link
G Tmem67 transmembrane protein 67 ISO RGD PMID:30705305 PMID:15052665 RGD:14995942, RGD:15014788 NCBI chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,363...12,090,020 		JBrowse link
G Trappc12 trafficking protein particle complex 12 ISO ClinVar Annotator: match by term: Severe hydrocephalus ClinVar NCBI chr12:28,740,619...28,801,746
Ensembl chr12:28,740,627...28,800,471 		JBrowse link
G Trim71 tripartite motif-containing 71 ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:25741868 PMID:29983323 NCBI chr 9:114,340,336...114,393,437
Ensembl chr 9:114,336,201...114,393,437 		JBrowse link
G Tubb5 tubulin, beta 5 class I ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:25741868 NCBI chr17:36,144,812...36,149,193
Ensembl chr17:36,144,813...36,149,198 		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 (C. elegans) IAGP OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 9:120,793,520...121,115,225
Ensembl chr 9:120,784,417...121,106,263 		JBrowse link
G Wdr37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:25741868 PMID:31327508 PMID:31327510 PMID:31474318 NCBI chr13:8,853,002...8,922,136
Ensembl chr13:8,853,004...8,921,945 		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 term: X-linked dominant chondrodysplasia, Chassaing-Lacombe type OMIM
ClinVar		 PMID:16001442 PMID:20181727 PMID:25741868 PMID:28492532 NCBI chr  X:7,796,355...7,814,284
Ensembl chr  X:7,796,359...7,814,128 		JBrowse link
Clark-Baraitser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trip12 thyroid hormone receptor interactor 12 ISO ClinVar Annotator: match by term: Clark-Baraitser syndrome | ClinVar Annotator: match by term: TRIP12-related condition OMIM
ClinVar		 PMID:3812552 PMID:25363768 PMID:25741868 PMID:27848077 PMID:28251352 More... NCBI chr 1:84,698,910...84,818,285
Ensembl chr 1:84,698,910...84,818,237 		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 chr11:120,451,124...120,464,079
Ensembl chr11:120,451,124...120,464,079 		JBrowse link
G Sec24d SEC24 homolog D, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:123,058,451...123,159,290
Ensembl chr 3:123,061,104...123,159,290 		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 PMID:25741868 PMID:28492532 PMID:29263160 PMID:30063094 NCBI chr11:120,451,124...120,464,079
Ensembl chr11:120,451,124...120,464,079 		JBrowse link
Cole-Carpenter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sec24d SEC24 homolog D, COPII coat complex component ISO ClinVar Annotator: match by term: Cole-Carpenter syndrome 2 | ClinVar Annotator: match by term: SEC24D-related condition OMIM
ClinVar		 PMID:25683121 PMID:25741868 PMID:26467156 PMID:27942778 PMID:28492532 More... NCBI chr 3:123,058,451...123,159,290
Ensembl chr 3:123,061,104...123,159,290 		JBrowse link
communicating hydrocephalus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem67 transmembrane protein 67 ISO RGD PMID:30705305 RGD:14995942 NCBI chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,363...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 OMIM
ClinVar		 PMID:25741868 PMID:29983323 NCBI chr 9:114,340,336...114,393,437
Ensembl chr 9:114,336,201...114,393,437 		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, nonsyndromic, autosomal recessive 2 ClinVar PMID:11673361 PMID:18450854 PMID:19780764 PMID:20434380 PMID:23028790 More... NCBI chr 3:153,627,990...153,650,280
Ensembl chr 3:153,627,994...153,650,269 		JBrowse link
G Mpdz multiple PDZ domain crumbs cell polarity complex component ISO ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive 2 | ClinVar Annotator: match by term: MPDZ-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:23240096 More... NCBI chr 4:81,196,736...81,361,112
Ensembl chr 4:81,196,742...81,361,052 		JBrowse link
Congenital Hydrocephalus 3, with Brain Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by term: HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: Hydrocephalus, congenital, 3, with brain anomalies OMIM
ClinVar		 PMID:16371500 PMID:21885617 PMID:25558065 PMID:25741868 PMID:28492532 More... NCBI chr11:75,331,769...75,345,544
Ensembl chr11:75,331,770...75,345,543 		JBrowse link
Congenital Hydrocephalus 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcc1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 susceptibility ISO ClinVar Annotator: match by term: Hydrocephalus, congenital, 5, susceptibility to | ClinVar Annotator: match by term: SMARCC1-associated developmental dysgenesis syndrome OMIM
ClinVar		 PMID:25741868 PMID:29983323 PMID:33077954 NCBI chr 9:109,961,129...110,069,773
Ensembl chr 9:109,946,776...110,069,246 		JBrowse link
Dandy-Walker syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Armc9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 PMID:28492532 PMID:28625504 PMID:31474318 NCBI chr 1:86,082,436...86,207,491
Ensembl chr 1:86,082,502...86,206,006 		JBrowse link
G Bltp1 bridge-like lipid transfer protein family member 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25558065 PMID:25741868 NCBI chr 3:36,917,212...37,107,182
Ensembl chr 3:36,917,253...37,107,182 		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 More... NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397 		JBrowse link
G Chn1 chimerin 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr 2:73,441,004...73,605,723
Ensembl chr 2:73,441,004...73,605,690 		JBrowse link
G Dph1 diphthamide biosynthesis 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25558065 PMID:25741868 PMID:30877278 NCBI chr11:75,068,469...75,081,309
Ensembl chr11:75,068,469...75,082,067 		JBrowse link
G Dpysl5 dihydropyrimidinase-like 5 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:3812597 PMID:31474318 PMID:33894126 NCBI chr 5:30,868,908...30,956,713
Ensembl chr 5:30,868,908...30,956,719 		JBrowse link
G Foxc1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19668217 NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459 		JBrowse link
G Hyls1 HYLS1, centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Dandy-Walker malformation ClinVar PMID:25741868 PMID:28492532 PMID:30697592 PMID:31474318 NCBI chr 9:35,472,117...35,481,365
Ensembl chr 9:35,472,116...35,481,694 		JBrowse link
G Ints1 integrator complex subunit 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar NCBI chr 5:139,737,037...139,761,455
Ensembl chr 5:139,737,037...139,761,429 		JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:92,943,180...93,029,760
Ensembl chr 1:92,943,186...93,029,673 		JBrowse link
G Kmt2d lysine (K)-specific methyltransferase 2D ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr15:98,729,550...98,771,958
Ensembl chr15:98,729,550...98,769,085 		JBrowse link
G Maged2 MAGE family member D2 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar NCBI chr  X:149,589,417...149,597,358
Ensembl chr  X:149,589,366...149,597,341 		JBrowse link
G Mid1 midline 1 ISO ClinVar Annotator: match by term: Dandy-Walker malformation ClinVar PMID:15121778 PMID:15558842 PMID:25741868 NCBI chr  X:168,468,178...168,773,692
Ensembl chr  X:168,468,195...168,773,794 		JBrowse link
G Pdgfrb platelet derived growth factor receptor, beta polypeptide ISO ClinVar Annotator: match by term: Dandy-Walker malformation ClinVar PMID:12181311 PMID:25292412 PMID:25741868 PMID:28334876 PMID:28639748 More... NCBI chr18:61,178,194...61,218,139
Ensembl chr18:61,178,222...61,218,133 		JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 PMID:26167768 PMID:30858804 PMID:31474318 NCBI chr14:99,336,892...99,492,335
Ensembl chr14:99,336,860...99,491,929 		JBrowse link
G Ppp1cb protein phosphatase 1 catalytic subunit beta ISO ClinVar Annotator: match by term: Dandy-Walker malformation ClinVar PMID:25741868 PMID:25741869 PMID:27264673 PMID:27681385 PMID:27868344 More... NCBI chr 5:32,616,192...32,651,057
Ensembl chr 5:32,616,187...32,674,777 		JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Dandy-Walker malformation ClinVar PMID:25741868 PMID:28492532 PMID:30697592 PMID:31474318 NCBI chr 9:35,469,856...35,478,697
Ensembl chr 9:35,469,891...35,478,697 		JBrowse link
G Setd2 SET domain containing 2 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chr 9:110,361,368...110,447,703
Ensembl chr 9:110,361,665...110,447,701 		JBrowse link
G Tmem47 transmembrane protein 47 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar NCBI chr  X:80,114,250...80,141,481
Ensembl chr  X:80,114,304...80,141,478 		JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:20466733 PMID:25741868 PMID:28492532 PMID:30744660 PMID:31474318 More... NCBI chr15:98,847,728...98,851,382
Ensembl chr15:98,847,718...98,851,584 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:10521293 PMID:17568405 PMID:18700423 PMID:20888932 PMID:25741868 More... NCBI chr 5:37,123,448...37,146,326
Ensembl chr 5:37,123,448...37,146,549 		JBrowse link
G Zfp423 zinc finger protein 423 IAGP OMIM:220200 MouseDO NCBI chr 8:88,388,438...88,688,665
Ensembl chr 8:88,388,438...88,686,223 		JBrowse link
G Zic1 zinc finger protein of the cerebellum 1 ISO
IAGP		 OMIM:220200 MouseDO
RGD		 PMID:15338008 RGD:1599905 NCBI chr 9:91,240,111...91,250,136
Ensembl chr 9:91,240,111...91,247,863 		JBrowse link
G Zic4 zinc finger protein of the cerebellum 4 IAGP OMIM:220200 MouseDO NCBI chr 9:91,247,636...91,271,404
Ensembl chr 9:91,244,466...91,271,401 		JBrowse link
De Hauwere syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities ClinVar PMID:25741868 NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459 		JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities ClinVar PMID:25741868 NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240 		JBrowse link
hydrolethalus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hyls1 HYLS1, centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Hydrolethalus syndrome ClinVar PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 More... NCBI chr 9:35,472,117...35,481,365
Ensembl chr 9:35,472,116...35,481,694 		JBrowse link
G Kif7 kinesin family member 7 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
OMIM:236680 | OMIM:614120		 CTD
MouseDO		 PMID:21552264 NCBI chr 7:79,347,846...79,365,520
Ensembl chr 7:79,347,846...79,365,468 		JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Hydrolethalus syndrome ClinVar PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 More... NCBI chr 9:35,469,856...35,478,697
Ensembl chr 9:35,469,891...35,478,697 		JBrowse link
hydrolethalus syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hyls1 HYLS1, centriolar and ciliogenesis associated ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hydrolethalus syndrome 1		 OMIM
CTD
ClinVar		 PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 More... NCBI chr 9:35,472,117...35,481,365
Ensembl chr 9:35,472,116...35,481,694 		JBrowse link
G Kif7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:79,347,846...79,365,520
Ensembl chr 7:79,347,846...79,365,468 		JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Hydrolethalus syndrome 1 ClinVar PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 More... NCBI chr 9:35,469,856...35,478,697
Ensembl chr 9:35,469,891...35,478,697 		JBrowse link
hydrolethalus syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Hydrolethalus syndrome 2 OMIM
ClinVar		 PMID:16199547 PMID:19666503 PMID:21552264 PMID:21633164 PMID:25741868 More... NCBI chr 7:79,347,846...79,365,520
Ensembl chr 7:79,347,846...79,365,468 		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: Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia | ClinVar Annotator: match by term: Meckel syndrome type 7
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:12872122 PMID:17576681 PMID:17855640 PMID:18371931 More... NCBI chr 9:103,879,743...103,921,010
Ensembl chr 9:103,879,743...103,921,017 		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 1:176,847,642...177,091,688
Ensembl chr 1:176,847,639...177,085,769 		JBrowse link
G Ccnd2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24705253 PMID:29642246 NCBI chr 6:127,102,125...127,131,913
Ensembl chr 6:127,102,125...127,129,156 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22729224 NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635 		JBrowse link
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MEGALENCEPHALY, MEGA CORPUS CALLOSUM, AND COMPLETE LACK OF MOTOR DEVELOPMENT | ClinVar Annotator: match by term: MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME		 CTD
ClinVar		 PMID:9536098 PMID:16357568 PMID:17576681 PMID:21984976 PMID:22729224 More... NCBI chr 8:71,220,820...71,229,356
Ensembl chr 8:71,220,820...71,229,357 		JBrowse link
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Armc6 armadillo repeat containing 6 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:70,672,822...70,687,099
Ensembl chr 8:70,672,822...70,687,116 		JBrowse link
G Arrdc2 arrestin domain containing 2 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:71,287,773...71,293,173
Ensembl chr 8:71,287,773...71,292,364 		JBrowse link
G Borcs8 BLOC-1 related complex subunit 8 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:70,592,149...70,601,285
Ensembl chr 8:70,592,149...70,599,969 		JBrowse link
G Ccdc124 coiled-coil domain containing 124 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:71,320,870...71,326,134
Ensembl chr 8:71,320,871...71,326,579 		JBrowse link
G Ccnd2 cyclin D2 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:25741868 NCBI chr 6:127,102,125...127,131,913
Ensembl chr 6:127,102,125...127,129,156 		JBrowse link
G Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:70,768,425...70,784,238
Ensembl chr 8:70,768,425...70,784,242 		JBrowse link
G Comp cartilage oligomeric matrix protein ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:70,826,186...70,834,721
Ensembl chr 8:70,826,208...70,834,716 		JBrowse link
G Cope coatomer protein complex, subunit epsilon ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:70,755,417...70,765,652
Ensembl chr 8:70,755,168...70,765,643 		JBrowse link
G Crlf1 cytokine receptor-like factor 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:70,945,798...70,956,728
Ensembl chr 8:70,945,808...70,956,731 		JBrowse link
G Crtc1 CREB regulated transcription coactivator 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:70,835,002...70,892,720
Ensembl chr 8:70,835,005...70,892,229 		JBrowse link
G Ddx49 DEAD box helicase 49 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:70,745,516...70,755,121
Ensembl chr 8:70,745,516...70,755,139 		JBrowse link
G Ell elongation factor RNA polymerase II ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:70,992,345...71,045,508
Ensembl chr 8:70,992,107...71,045,508 		JBrowse link
G Fkbp8 FK506 binding protein 8 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:70,980,371...70,987,978
Ensembl chr 8:70,980,374...70,987,978 		JBrowse link
G Gdf1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:70,768,425...70,784,242
Ensembl chr 8:70,768,425...70,784,242
Ensembl chr 8:70,768,425...70,784,242 		JBrowse link
G Gdf15 growth differentiation factor 15 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:71,082,043...71,085,106
Ensembl chr 8:71,082,043...71,085,106 		JBrowse link
G Homer3 homer scaffolding protein 3 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:70,735,529...70,747,011
Ensembl chr 8:70,735,477...70,747,011 		JBrowse link
G Ifi30 interferon gamma inducible protein 30 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:71,215,418...71,219,307
Ensembl chr 8:71,215,419...71,219,307 		JBrowse link
G Il12rb1 interleukin 12 receptor, beta 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:71,261,005...71,276,186
Ensembl chr 8:71,261,093...71,274,068 		JBrowse link
G Insl3 insulin-like 3 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:72,141,896...72,143,221
Ensembl chr 8:72,141,858...72,143,219 		JBrowse link
G Iqcn IQ motif containing N ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:71,154,661...71,170,299
Ensembl chr 8:71,156,106...71,170,299 		JBrowse link
G Isyna1 myo-inositol 1-phosphate synthase A1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:71,047,131...71,049,940
Ensembl chr 8:71,047,023...71,049,940 		JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:72,129,027...72,143,221
Ensembl chr 8:72,128,940...72,143,219 		JBrowse link
G Jund jun D proto-oncogene ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:71,150,389...71,153,265
Ensembl chr 8:71,151,599...71,153,265 		JBrowse link
G Kcnn1 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:71,295,802...71,318,335
Ensembl chr 8:71,294,693...71,315,902 		JBrowse link
G Klhl26 kelch-like 26 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:70,902,868...70,929,660
Ensembl chr 8:70,902,869...70,929,618 		JBrowse link
G Kxd1 KxDL motif containing 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:70,966,046...70,975,830
Ensembl chr 8:70,960,922...70,980,606 		JBrowse link
G Lrrc25 leucine rich repeat containing 25 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:71,068,810...71,073,501
Ensembl chr 8:71,068,805...71,074,133 		JBrowse link
G Lsm4 LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:71,124,663...71,131,402
Ensembl chr 8:71,125,898...71,131,402 		JBrowse link
G Mast3 microtubule associated serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:71,230,761...71,257,681
Ensembl chr 8:71,230,761...71,257,698 		JBrowse link
G Mef2b myocyte enhancer factor 2B ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:70,605,411...70,620,138
Ensembl chr 8:70,592,361...70,620,138 		JBrowse link
G Mpv17l2 MPV17 mitochondrial membrane protein-like 2 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:71,211,295...71,213,589
Ensembl chr 8:71,211,295...71,213,592 		JBrowse link
G Nr2c2ap nuclear receptor 2C2-associated protein ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:70,583,977...70,586,402
Ensembl chr 8:70,583,983...70,586,399 		JBrowse link
G Pde4c phosphodiesterase 4C, cAMP specific ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:71,176,485...71,203,835
Ensembl chr 8:71,176,369...71,203,835 		JBrowse link
G Pgpep1 pyroglutamyl-peptidase I ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:71,099,086...71,113,096
Ensembl chr 8:71,099,085...71,113,038 		JBrowse link
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:16357568 PMID:17576681 PMID:17675034 PMID:21984976 More... NCBI chr 8:71,220,820...71,229,356
Ensembl chr 8:71,220,820...71,229,357 		JBrowse link
G Rab3a RAB3A, member RAS oncogene family ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:71,207,258...71,211,276
Ensembl chr 8:71,207,328...71,211,323 		JBrowse link
G Rex1bd required for excision 1-B domain containing ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:70,956,945...70,959,402
Ensembl chr 8:70,956,942...70,959,402 		JBrowse link
G Rfxank regulatory factor X-associated ankyrin-containing protein ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:70,583,456...70,591,847
Ensembl chr 8:70,583,444...70,591,804 		JBrowse link
G Rpl18a ribosomal protein L18A ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:71,347,366...71,350,087
Ensembl chr 8:71,347,366...71,350,056 		JBrowse link
G Slc25a42 solute carrier family 25, member 42 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:70,636,990...70,664,931
Ensembl chr 8:70,636,990...70,664,955 		JBrowse link
G Slc5a5 solute carrier family 5 (sodium iodide symporter), member 5 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:71,335,529...71,345,429
Ensembl chr 8:71,335,533...71,345,401 		JBrowse link
G Ssbp4 single stranded DNA binding protein 4 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:71,050,135...71,061,084
Ensembl chr 8:71,050,140...71,061,522 		JBrowse link
G Sugp2 SURP and G patch domain containing 2 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:70,686,838...70,715,755
Ensembl chr 8:70,686,876...70,732,565 		JBrowse link
G Tmem161a transmembrane protein 161A ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:70,624,979...70,636,331
Ensembl chr 8:70,625,006...70,636,331 		JBrowse link
G Tmem59l transmembrane protein 59-like ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:70,936,505...70,939,998
Ensembl chr 8:70,936,517...70,940,008 		JBrowse link
G Uba52 ubiquitin A-52 residue ribosomal protein fusion product 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:70,960,913...70,963,067
Ensembl chr 8:70,960,913...70,963,451 		JBrowse link
G Upf1 UPF1 RNA helicase and ATPase ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:28492532 NCBI chr 8:70,784,143...70,806,418
Ensembl chr 8:70,784,175...70,805,928 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar PMID:25741868 NCBI chr 2:44,873,523...45,007,378
Ensembl chr 2:44,873,644...45,007,407 		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 Adss2 adenylosuccinate synthase 2 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:28492532 NCBI chr 1:177,590,742...177,624,064
Ensembl chr 1:177,590,528...177,624,077 		JBrowse link
G Akt3 thymoma viral proto-oncogene 3 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18813315 PMID:22500628 PMID:22729223 More... NCBI chr 1:176,847,642...177,091,688
Ensembl chr 1:176,847,639...177,085,769 		JBrowse link
G Catspere2 cation channel sperm associated auxiliary subunit epsilon 2 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:28492532 NCBI chr 1:177,810,724...178,000,273
Ensembl chr 1:177,810,989...178,000,271 		JBrowse link
G Cep170 centrosomal protein 170kDa ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 PMID:28492532 NCBI chr 1:176,556,638...176,641,545
Ensembl chr 1:176,561,219...176,641,633 		JBrowse link
G Chml choroideremia-like ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:28492532 NCBI chr 1:175,509,803...175,520,198
Ensembl chr 1:175,509,803...175,520,467 		JBrowse link
G Cox20 cytochrome c oxidase assembly protein 20 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:28492532 NCBI chr 1:178,146,379...178,150,258
Ensembl chr 1:178,146,695...178,150,258 		JBrowse link
G Desi2 desumoylating isopeptidase 2 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:28492532 NCBI chr 1:178,014,983...178,080,164
Ensembl chr 1:178,014,983...178,084,867 		JBrowse link
G Exo1 exonuclease 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:28492532 NCBI chr 1:175,708,334...175,738,962
Ensembl chr 1:175,708,147...175,741,055 		JBrowse link
G Fh1 fumarate hydratase 1 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:28492532 NCBI chr 1:175,428,944...175,453,201
Ensembl chr 1:175,427,940...175,453,201 		JBrowse link
G Hnrnpu heterogeneous nuclear ribonucleoprotein U ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:28492532 NCBI chr 1:178,148,673...178,170,063
Ensembl chr 1:178,148,673...178,165,362 		JBrowse link
G Kmo kynurenine 3-monooxygenase ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:28492532 NCBI chr 1:175,459,759...175,488,419
Ensembl chr 1:175,447,947...175,489,682 		JBrowse link
G Opn3 opsin 3 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:28492532 NCBI chr 1:175,489,993...175,520,198
Ensembl chr 1:175,489,987...175,520,342 		JBrowse link
G Pld5 phospholipase D family member 5 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 PMID:28492532 NCBI chr 1:175,789,867...176,109,078
Ensembl chr 1:175,789,872...176,102,878 		JBrowse link
G Sdccag8 serologically defined colon cancer antigen 8 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:22729224 PMID:23745724 PMID:24705253 PMID:25087610 PMID:28492532 NCBI chr 1:176,642,226...176,848,004
Ensembl chr 1:176,642,226...176,848,003 		JBrowse link
G Spmip3 sperm associated microtubule inner protein 3 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 PMID:28492532 NCBI chr 1:177,555,704...177,580,875
Ensembl chr 1:177,557,380...177,580,890 		JBrowse link
G Wdr64 WD repeat domain 64 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:28492532 NCBI chr 1:175,526,135...175,643,300
Ensembl chr 1:175,526,159...175,643,300 		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 PMID:28492532 NCBI chr 1:177,269,892...177,278,330
Ensembl chr 1:177,269,917...177,278,330 		JBrowse link
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnd2 cyclin D2 ISO ClinVar Annotator: match by term: CCND2-related condition | ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 OMIM
ClinVar		 PMID:17486076 PMID:24705253 PMID:25741868 PMID:26795593 PMID:28492532 More... NCBI chr 6:127,102,125...127,131,913
Ensembl chr 6:127,102,125...127,129,156 		JBrowse link
normal pressure hydrocephalus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak9 adenylate kinase 9 IAGP OMIM:236690 MouseDO NCBI chr10:41,179,433...41,309,565
Ensembl chr10:41,179,976...41,310,530 		JBrowse link
G Cfap43 cilia and flagella associated protein 43 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Normal pressure hydrocephalus
OMIM:236690		 OMIM
CTD
ClinVar
MouseDO		 PMID:25741868 PMID:29449551 PMID:31004071 NCBI chr19:47,723,706...47,825,893
Ensembl chr19:47,725,296...47,907,726 		JBrowse link
G Cwh43 cell wall biogenesis 43 C-terminal homolog IAGP OMIM:236690 MouseDO NCBI chr 5:73,563,394...73,610,778
Ensembl chr 5:73,563,418...73,610,778 		JBrowse link
G Pmpca peptidase (mitochondrial processing) alpha ISO ClinVar Annotator: match by term: Normal pressure hydrocephalus ClinVar PMID:10528257 PMID:25808372 NCBI chr 2:26,275,554...26,287,134
Ensembl chr 2:26,279,351...26,287,134 		JBrowse link
obstructive hydrocephalus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo9a myosin IXa IAGP MouseDO NCBI chr 9:59,658,128...59,836,149
Ensembl chr 9:59,658,179...59,836,149 		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 3:87,894,839...87,908,458
Ensembl chr 3:87,894,838...87,907,537 		JBrowse link
G L1cam L1 cell adhesion molecule ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:22186713 RGD:6483013 NCBI chr  X:72,897,384...72,924,843
Ensembl chr  X:72,897,384...72,939,711 		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:9536098 PMID:12872122 PMID:16199547 PMID:17576681 More... NCBI chr 9:103,879,743...103,921,010
Ensembl chr 9:103,879,743...103,921,017 		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:7,460,048...7,471,659
Ensembl chr  X:7,460,048...7,471,756 		JBrowse link
G Vps35l VPS35 endosomal protein sorting factor like ISO ClinVar Annotator: match by term: 3C syndrome ClinVar PMID:25741868 NCBI chr 7:118,339,401...118,440,712
Ensembl chr 7:118,339,449...118,442,189 		JBrowse link
G Washc5 WASH complex subunit 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 3C syndrome		 CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:24123792 PMID:25741868 PMID:26467025 More... NCBI chr15:59,203,712...59,246,043
Ensembl chr15:59,203,846...59,246,016 		JBrowse link
Ritscher-Schinzel syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 ClinVar PMID:19377476 PMID:21826058 PMID:31971710 NCBI chr  X:7,460,048...7,471,659
Ensembl chr  X:7,460,048...7,471,756 		JBrowse link
G Dpysl5 dihydropyrimidinase-like 5 ISO ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 ClinVar PMID:3812597 PMID:31474318 PMID:33894126 NCBI chr 5:30,868,908...30,956,713
Ensembl chr 5:30,868,908...30,956,719 		JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 OMIM
ClinVar		 PMID:7604842 PMID:24065355 PMID:24824269 PMID:25741868 PMID:26467025 More... NCBI chr15:59,203,712...59,246,043
Ensembl chr15:59,203,846...59,246,016 		JBrowse link
Ritscher-Schinzel syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: CCDC22-related condition | ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 2 OMIM
ClinVar		 PMID:19377476 PMID:21826058 PMID:23563313 PMID:24916641 PMID:25644381 More... NCBI chr  X:7,460,048...7,471,659
Ensembl chr  X:7,460,048...7,471,756 		JBrowse link
Ritscher-Schinzel Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps35l VPS35 endosomal protein sorting factor like ISO ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 3 OMIM
ClinVar		 PMID:25741868 PMID:31712251 PMID:36113987 NCBI chr 7:118,339,401...118,440,712
Ensembl chr 7:118,339,449...118,442,189 		JBrowse link
Ritscher-Schinzel Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpysl5 dihydropyrimidinase-like 5 ISO ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 4 OMIM
ClinVar		 PMID:3812597 PMID:25741868 PMID:31474318 PMID:33894126 NCBI chr 5:30,868,908...30,956,713
Ensembl chr 5:30,868,908...30,956,719 		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
IAGP		 ClinVar Annotator: match by term: Pettigrew syndrome
OMIM:304340
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2018058 PMID:5054319 PMID:10398241 PMID:12599187 PMID:17186471 More... NCBI chr  X:162,691,427...162,716,662
Ensembl chr  X:162,692,013...162,716,662 		JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: Pettigrew syndrome ClinVar PMID:25741868 NCBI chr  X:37,620,493...37,665,073
Ensembl chr  X:37,622,151...37,665,073 		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: CRB2-related condition | ClinVar Annotator: match by term: Ventriculomegaly-cystic kidney disease
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25557779 PMID:25557780 PMID:25741868 PMID:26795916 PMID:26925547 More... NCBI chr 2:37,666,238...37,689,115
Ensembl chr 2:37,666,261...37,689,115 		JBrowse link
X-Linked Hydrocephalus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G L1cam L1 cell adhesion molecule ISO
IMP		 DNA:snps:cds:multiple (human)
ClinVar Annotator: match by term: Aqueductal stenosis, X-linked | ClinVar Annotator: match by term: HYDROCEPHALUS, CONGENITAL, X-LINKED | ClinVar Annotator: match by term: Hydrocephalus due to aqueductal stenosis
CTD Direct Evidence: marker/mechanism
C57BL/6J background		 ClinVar
CTD
OMIM
RGD		 PMID:7562969 PMID:7762552 PMID:7920659 PMID:7920660 PMID:8062435 More... RGD:6483012, RGD:14695001, RGD:6483078 NCBI chr  X:72,897,384...72,924,843
Ensembl chr  X:72,897,384...72,939,711 		JBrowse link
X-Linked Hydrocephalus, with Congenital Idiopathic Intestinal Pseudoobstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction ClinVar PMID:12650797 PMID:15368500 NCBI chr  X:72,897,384...72,924,843
Ensembl chr  X:72,897,384...72,939,711 		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 chr12:54,939,774...55,061,155
Ensembl chr12:54,940,336...55,061,133 		JBrowse link
G Fancb Fanconi anemia, complementation group B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL ASSOCIATION, X-LINKED | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus | ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: VACTERL-H, X-LINKED | ClinVar Annotator: match by term: X-linked VACTERL-H syndrome		 CTD
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32546565 NCBI chr  X:163,763,678...163,780,266
Ensembl chr  X:163,763,588...163,780,268 		JBrowse link
G Fancl Fanconi anemia, complementation group L ISO ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus ClinVar PMID:19405097 PMID:23613520 PMID:25741868 PMID:25754594 PMID:28492532 More... NCBI chr11:26,337,084...26,421,883
Ensembl chr11:26,336,135...26,421,876 		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:10866302 PMID:11748304 PMID:17526800 PMID:17526801 PMID:17942903 More... NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560 		JBrowse link
G Sall1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: VACTERL-H ClinVar PMID:25741868 NCBI chr 8:89,753,867...89,770,790
Ensembl chr 8:89,753,863...89,770,790 		JBrowse link
G Zic3 zinc finger protein of the cerebellum 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus		 OMIM
CTD
ClinVar		 PMID:2629409 PMID:10980576 PMID:14681828 PMID:17764085 PMID:23427188 More... NCBI chr  X:57,075,988...57,081,990
Ensembl chr  X:57,068,060...57,087,096 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16193
    disease of anatomical entity 15759
      nervous system disease 13651
        central nervous system disease 12235
          brain disease 11478
            cerebral degeneration 668
              hydrocephalus 180
                Aase Smith Syndrome 0
                Baker Vinters Syndrome 0
                Beemer Ertbruggen Syndrome 0
                Bor-Duane Hydrocephalus Contiguous Gene Syndrome 0
                Clark-Baraitser syndrome 1
                Cole-Carpenter syndrome + 2
                Congenital Hydrocephalus 2, with or without Brain or Eye Anomalies 2
                Congenital Hydrocephalus 3, with Brain Anomalies 1
                Congenital Hydrocephalus 5 1
                Daentl Towsend Siegel Syndrome 0
                Daish Hardman Lamont Syndrome 0
                Dandy-Walker syndrome + 30
                De Hauwere syndrome 2
                Edinburgh Malformation Syndrome 0
                Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis 0
                Game Friedman Paradice Syndrome 0
                Hydrocephalus with Cerebellar Agenesis 0
                Hydrocephalus, Autosomal Dominant 0
                Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 0
                Hydrocephalus, Skeletal Anomalies, and Mental Disturbance 0
                Iris Dysplasia Hypertelorism Deafness 0
                Kozlowski Brown Hardwick Syndrome 0
                Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome + 66
                Palmer Pagon Syndrome 0
                Posthemorrhagic Hydrocephalus 2
                Radius Absent Anogenital Anomalies 0
                Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 0
                Schwartz Cohen-Addad Lambert Syndrome 0
                Thoracic Dysplasia-Hydrocephalus Syndrome 0
                Ventriculomegaly with Defects of the Radius and Kidney 0
                Waaler Aarskog Syndrome 0
                X-Linked Hydrocephalus + 1
                X-linked VACTERL association 6
                Yim Ebbin Syndrome 0
                chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 1
                communicating hydrocephalus + 6
                hydrolethalus syndrome + 3
                normal pressure hydrocephalus + 4
                obstructive hydrocephalus 1
                ventriculomegaly - cystic kidney disease 1
paths to the root