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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:Excessive accumulation of cerebrospinal fluid within the cranium which may be associated with dilation of cerebral ventricles, INTRACRANIAL HYPERTENSION; HEADACHE; lethargy; URINARY INCONTINENCE; and ATAXIA.
Synonyms:exact_synonym: Cerebral Ventriculomegaly;   Congenital Hydrocephalus;   Fetal Cerebral Ventriculomegalies;   Fetal Cerebral Ventriculomegaly;   HYC1;   aqueductal stenoses;   aqueductal stenosis;   cerebral ventriculomegalies;   hydrocephalus ex vacuo;   hydrocephalus ex-vacuos;   hydrocephalus, X-linked;   hydrocephaly;   nonsyndromic hydrocephalus, autosomal recessive;   nonsyndromic hydrocephalus, autosomal recessive 1;   post traumatic hydrocephalus;   ventriculomegaly
 primary_id: MESH:D006849
 alt_id: OMIM:236600;   OMIM:236635;   RDO:0000274
 xref: GARD:6682;   ICD10CM:G91;   NCI:C3111;   NCI:C98876;   OMIM:PS236600;   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 Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:30311386 NCBI chr 2:189,045,551...189,085,448
Ensembl chr 2:189,062,443...189,083,236
JBrowse link
G Add1 adducin 1 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr14:81,367,466...81,426,610
Ensembl chr14:81,367,468...81,426,496
JBrowse link
G Ak7 adenylate kinase 7 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 6:129,538,648...129,606,960
Ensembl chr 6:129,538,982...129,606,932
JBrowse link
G Ak8 adenylate kinase 8 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 3:7,279,429...7,394,509
Ensembl chr 3:7,279,340...7,394,513
JBrowse link
G Aqp1 aquaporin 1 disease_progression IEP RGD PMID:21135737 RGD:5148011 NCBI chr 4:85,551,503...85,563,683
Ensembl chr 4:85,551,502...85,569,360
JBrowse link
G Aqp4 aquaporin 4 disease_progression IEP RGD PMID:21135737 RGD:5148011 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
JBrowse link
G Arid1b AT-rich interaction domain 1B ISO RGD PMID:28867767 RGD:13439722 NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:22842232, PMID:25741868, PMID:26297560, PMID:26410222, PMID:28492532 NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
JBrowse link
G Bok BCL2 family apoptosis regulator BOK IEP mRNA:increased expression:brain:Hydrocephalus-Texas (HTX, RS:0000399) vs. SD (RS:0000681) rats RGD PMID:15964663 RGD:1624238 NCBI chr 9:100,829,593...100,840,498
Ensembl chr 9:100,829,552...100,840,504
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:16439621, PMID:18039235, PMID:18413255, PMID:19376813, PMID:24033266, PMID:25463315, PMID:25741868, PMID:26619011, PMID:28492532, PMID:30311386 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Brca1 BRCA1, DNA repair associated ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:7837387, PMID:8644702, PMID:9663595, PMID:12393792, PMID:12566964, PMID:15024741, PMID:15383404, PMID:15876480, PMID:18763032, PMID:18783588, PMID:20373018, PMID:21232165, PMID:21989927, PMID:23199084, PMID:23683081, PMID:24033266, PMID:24312913, PMID:24504028, PMID:25330149, PMID:25682074, PMID:25741868, PMID:25948282, PMID:26083025, PMID:26219728, PMID:26295337, PMID:26467025, PMID:26852130, PMID:27741520, PMID:28324225, PMID:28492532, PMID:29335924, PMID:30311386, PMID:30606148 NCBI chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
JBrowse link
G Ccdc39 coiled-coil domain containing 39 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 2:120,278,605...120,367,829
Ensembl chr 2:120,278,605...120,316,600
JBrowse link
G Ccdc85c coiled-coil domain containing 85C ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 6:132,113,806...132,183,434 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 chr 6:124,905,811...125,028,011
Ensembl chr 6:124,905,808...125,027,553
JBrowse link
G Ccnd2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chr 4:159,674,885...159,697,207
Ensembl chr 4:159,674,885...159,697,207
JBrowse link
G Cdk8 cyclin-dependent kinase 8 ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:25741868 NCBI chr12:10,496,273...10,561,335 JBrowse link
G Celsr2 cadherin, EGF LAG seven-pass G-type receptor 2 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 2:211,183,410...211,207,458
Ensembl chr 2:211,183,311...211,207,465
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 chr 2:57,274,175...57,350,003
NCBI chr 2:57,444,373...57,472,465
Ensembl chr 2:57,276,919...57,348,481
JBrowse link
G Crppa CDP-L-ribitol pyrophosphorylase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22522421 NCBI chr 6:55,880,136...56,159,466
Ensembl chr 6:55,881,387...56,159,464
JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Hydrocephalus ClinVar NCBI chr 8:22,822,412...22,874,670
Ensembl chr 8:22,822,412...22,874,645
JBrowse link
G Dpcd deleted in primary ciliary dyskinesia ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 1:265,298,872...265,318,521
Ensembl chr 1:265,298,868...265,317,860
JBrowse link
G E2f5 E2F transcription factor 5 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 2:88,350,764...88,366,913
Ensembl chr 2:88,351,361...88,366,115
JBrowse link
G Foxc1 forkhead box C1 ISO RGD PMID:9635428 RGD:8662364 NCBI chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484
JBrowse link
G Fzd3 frizzled class receptor 3 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr15:48,601,259...48,670,257
Ensembl chr15:48,601,266...48,670,257
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:30311386 NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
JBrowse link
G Gldc glycine decarboxylase ISO RGD PMID:25736695 RGD:12904662 NCBI chr 1:248,295,140...248,377,122
Ensembl chr 1:248,297,331...248,377,093
JBrowse link
G Hmgb1 high mobility group box 1 IEP RGD PMID:22116431 RGD:10402405 NCBI chr12:7,082,529...7,090,246
Ensembl chr16:37,500,017...37,502,237
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 IEP RGD PMID:15964663 RGD:1624238 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Hydin Hydin, axonemal central pair apparatus protein ISO DNA:nonsense mutation:exon (mouse)
CTD Direct Evidence: marker/mechanism
CTD PMID:12719380, PMID:19029900, PMID:12719380 RGD:634487 NCBI chr19:41,036,507...41,379,634
Ensembl chr19:41,036,510...41,379,588
JBrowse link
G Ift122 intraflagellar transport 122 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20493458 NCBI chr 4:147,756,574...147,826,983
Ensembl chr 4:147,756,553...147,826,997
JBrowse link
G Itgb1 integrin subunit beta 1 IMP RGD PMID:19726708 RGD:2325325 NCBI chr19:61,677,512...61,725,537
Ensembl chr19:61,677,542...61,725,535
JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Hydrocephalus ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:3,310,641...3,366,558
Ensembl chr 3:3,310,954...3,365,340
JBrowse link
G Kif27 kinesin family member 27 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr17:6,701,287...6,776,599
Ensembl chr17:6,701,315...6,772,349
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:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
JBrowse link
G Llgl1 LLGL scribble cell polarity complex component 1 ISO RGD PMID:15037549 RGD:1300301 NCBI chr10:46,940,873...46,955,524
Ensembl chr10:46,940,965...46,954,674
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 3:2,547,259...2,569,051
Ensembl chr 3:2,547,986...2,569,049
JBrowse link
G Mboat7 membrane bound O-acyltransferase domain containing 7 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 1:64,100,159...64,114,437
Ensembl chr 1:64,101,018...64,113,792
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 5:99,413,184...99,566,356
Ensembl chr 5:99,413,187...99,566,318
JBrowse link
G Nin ninein ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:30311386 NCBI chr 6:92,423,412...92,527,776
Ensembl chr 6:92,433,381...92,527,711
JBrowse link
G Nme5 NME/NM23 family member 5 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr18:27,357,460...27,374,641
Ensembl chr18:27,357,413...27,374,603
JBrowse link
G Nme7 NME/NM23 family member 7 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr13:82,607,844...82,737,383
Ensembl chr13:82,626,685...82,737,343
JBrowse link
G Ntf3 neurotrophin 3 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:11580868 RGD:1358755 NCBI chr 4:158,636,883...158,705,886
Ensembl chr 4:158,636,884...158,705,886
JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Hydrocephaly ClinVar PMID:25741868 NCBI chr 5:164,720,629...164,747,071
Ensembl chr 5:164,720,587...164,747,083
JBrowse link
G Pomk protein-O-mannose kinase ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr16:70,854,825...70,869,653
Ensembl chr16:70,859,280...70,869,634
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha IEP mRNA:decreased expression:brain:Hydrocephalus-Texas (HTX, RS:0000399) vs. SD (RS:0000681) rats RGD PMID:15964663 RGD:1624238 NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:28492532, PMID:29983323 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:31474318 NCBI chr 8:118,802,478...118,888,224
Ensembl chr 8:118,803,075...118,888,224
JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27399968 NCBI chr 8:61,748,590...61,803,314
Ensembl chr 8:61,762,768...61,803,099
JBrowse link
G Smarcc1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:29983323 NCBI chr 8:118,206,678...118,326,264
Ensembl chr 8:118,206,698...118,325,537
JBrowse link
G Sox3 SRY-box transcription factor 3 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr  X:144,035,162...144,037,364
Ensembl chr  X:144,035,883...144,037,294
JBrowse link
G Stk36 serine/threonine kinase 36 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 9:81,880,175...81,908,014
Ensembl chr 9:81,880,177...81,907,273
JBrowse link
G Tmem67 transmembrane protein 67 IAGP RGD PMID:30705305 RGD:14995942 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link
G Tmem67wpk transmembrane protein 67; wpk mutant IAGP RGD PMID:30705305 RGD:14995942
G Trim71 tripartite motif containing 71 ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:29983323 NCBI chr 8:122,553,015...122,604,787
Ensembl chr 8:122,553,015...122,604,787
JBrowse link
G Txn1 thioredoxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31310794 NCBI chr 5:75,049,735...75,057,731
Ensembl chr 5:75,049,747...75,057,752
JBrowse link
G Ulk4 unc-51 like kinase 4 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 8:129,631,003...129,919,080
Ensembl chr 8:129,632,149...129,919,120
JBrowse link
G Wdr37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:31327508, PMID:31327510, PMID:31474318 NCBI chr17:57,983,937...58,051,011
Ensembl chr17:57,983,937...58,050,992
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:15,295,372...15,316,673
Ensembl chr  X:15,295,473...15,316,671
JBrowse link
Clark-Baraitser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trio trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Clark-Baraitser syndrome ClinVar PMID:25741868 NCBI chr 2:80,471,398...80,769,313
Ensembl chr 2:80,473,202...80,667,481
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 9:92,305,059...92,435,388
Ensembl chr 9:92,305,051...92,435,365
JBrowse link
Cole-Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P4hb prolyl 4-hydroxylase subunit beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cole-Carpenter syndrome
CTD
ClinVar
PMID:25741868 NCBI chr10:109,736,459...109,748,070
Ensembl chr10:109,736,458...109,747,987
JBrowse link
G Sec24d SEC24 homolog D, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:227,455,704...227,562,801
Ensembl chr 2:227,455,722...227,562,319
JBrowse link
Cole-Carpenter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P4hb prolyl 4-hydroxylase subunit beta ISO ClinVar Annotator: match by term: Cole-Carpenter syndrome 1 OMIM
ClinVar
PMID:25683117 NCBI chr10:109,736,459...109,748,070
Ensembl chr10:109,736,458...109,747,987
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: Cole-carpenter syndrome 2
OMIM
ClinVar
PMID:25683121, PMID:26467156, PMID:27942778, PMID:30462379 NCBI chr 2:227,455,704...227,562,801
Ensembl chr 2:227,455,722...227,562,319
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 5:116,421,895...116,750,381
Ensembl chr 5:116,420,690...116,751,416
JBrowse link
G Tmem67 transmembrane protein 67 IAGP RGD PMID:30705305 RGD:14995942 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link
G Tmem67wpk transmembrane protein 67; wpk mutant IAGP RGD PMID:30705305 RGD:14995942
Congenital Communicating Hydrocephalus 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trim71 tripartite motif containing 71 ISO ClinVar Annotator: match by term: HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1 ClinVar
OMIM
PMID:29983323 NCBI chr 8:122,553,015...122,604,787
Ensembl chr 8:122,553,015...122,604,787
JBrowse link
Congenital Hydrocephalus 2, with or without Brain or Eye Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acadm acyl-CoA dehydrogenase medium chain ISO ClinVar Annotator: match by term: Hydrocephalus, congenital, 2, with or without brain or eye anomalies ClinVar PMID:11673361, PMID:19780764, PMID:20434380, PMID:23028790, PMID:24966162, PMID:27308838, PMID:28492532 NCBI chr 2:260,124,418...260,148,589
Ensembl chr 2:260,124,418...260,148,589
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 5:99,413,184...99,566,356
Ensembl chr 5:99,413,187...99,566,318
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 chr10:62,273,817...62,287,213
Ensembl chr10:62,273,800...62,287,189
JBrowse link
Dandy Walker Cyst term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Dandy-Walker cyst ClinVar PMID:4386970, PMID:5771505, PMID:16372351, PMID:16523510, PMID:16804887, PMID:16825433, PMID:17551924, PMID:18039235, PMID:18413255, PMID:19206169, PMID:23875798, PMID:24033266, PMID:31474318 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
Dandy-Walker syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Armc9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:28492532, PMID:28625504, PMID:31474318 NCBI chr 9:93,172,718...93,299,119
Ensembl chr 9:93,172,673...93,296,750
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Dandy-Walker malformation ClinVar PMID:4386970, PMID:5771505, PMID:16372351, PMID:16523510, PMID:16804887, PMID:16825433, PMID:17551924, PMID:18039235, PMID:18413255, PMID:19206169, PMID:23875798, PMID:24033266, PMID:31474318 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Chn1 chimerin 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr 3:60,512,360...60,668,413
Ensembl chr 3:60,513,077...60,611,924
JBrowse link
G Dph1 diphthamide biosynthesis 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25558065 NCBI chr10:62,019,379...62,032,384
Ensembl chr10:62,019,379...62,032,407
JBrowse link
G Dpysl5 dihydropyrimidinase-like 5 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chr 6:26,939,696...27,024,129
Ensembl chr 6:26,939,697...27,024,129
JBrowse link
G Foxc1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19668217 NCBI chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484
JBrowse link
G Hyls1 HYLS1, centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chr 8:36,763,470...36,772,199
Ensembl chr 8:36,763,481...36,764,422
JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr 9:100,171,851...100,253,626
Ensembl chr 9:100,171,772...100,253,609
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908
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:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
JBrowse link
G Maged2 MAGE family member D2 ISO ClinVar Annotator: match by term: Dandy-Walker malformation ClinVar NCBI chr 5:33,174,539...33,182,715
Ensembl chr 5:33,174,542...33,182,715
JBrowse link
G Mid1 midline 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr  X:25,458,782...25,839,941
Ensembl chr  X:25,458,771...25,628,272
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:7678051, PMID:9211853, PMID:11341328, PMID:15284236, PMID:17499702, PMID:17656670, PMID:19047372, PMID:20124286, PMID:21194675, PMID:21437241, PMID:22209699, PMID:23255827, PMID:23731537, PMID:23731542, PMID:24065723, PMID:24796542, PMID:25158255, PMID:25391964, PMID:25454926, PMID:25803852, PMID:26279204, PMID:26279649, PMID:26455322, PMID:26971580, PMID:28334876, PMID:29226947, PMID:31474318 NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:30858804, PMID:31474318 NCBI chr15:83,494,110...83,663,202
Ensembl chr15:83,495,377...83,663,143
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 6:23,548,507...23,581,136
Ensembl chr 6:23,549,317...23,581,052
JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chr 8:36,760,874...36,769,167
Ensembl chr 8:36,766,977...36,769,162
JBrowse link
G RGD1307100 similar to RIKEN cDNA D630029K19 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25558065 NCBI chr 2:123,555,742...123,766,675
Ensembl chr 2:123,555,673...123,766,676
JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chr 8:118,802,478...118,888,224
Ensembl chr 8:118,803,075...118,888,224
JBrowse link
G Tmem47 transmembrane protein 47 ISO ClinVar Annotator: match by term: Dandy-Walker malformation ClinVar NCBI chr  X:48,779,110...48,805,644
Ensembl chr  X:48,779,110...48,805,644
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 chr 7:140,637,287...140,640,953
Ensembl chr 7:140,637,287...140,640,953
JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
JBrowse link
G Zfp423 zinc finger protein 423 ISS OMIM:220200 MouseDO NCBI chr19:20,147,201...20,405,999
Ensembl chr19:20,147,037...20,406,003
JBrowse link
G Zic1 Zic family member 1 ISO
ISS
OMIM:220200 MouseDO PMID:15338008 RGD:1599905 NCBI chr 8:98,733,715...98,738,960
Ensembl chr 8:98,734,295...98,738,446
JBrowse link
G Zic4 Zic family member 4 ISS OMIM:220200 MouseDO NCBI chr 8:98,755,104...98,760,737
Ensembl chr 8:98,745,310...98,761,840
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 8:36,763,470...36,772,199
Ensembl chr 8:36,763,481...36,764,422
JBrowse link
G Kif7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21552264 NCBI chr 1:141,434,183...141,452,592
Ensembl chr 1:141,434,625...141,451,075
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 8:36,760,874...36,769,167
Ensembl chr 8:36,766,977...36,769,162
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 8:36,763,470...36,772,199
Ensembl chr 8:36,763,481...36,764,422
JBrowse link
G Kif7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:141,434,183...141,452,592
Ensembl chr 1:141,434,625...141,451,075
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 8:36,760,874...36,769,167
Ensembl chr 8:36,766,977...36,769,162
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 1:141,434,183...141,452,592
Ensembl chr 1:141,434,625...141,451,075
JBrowse link
Meckel syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: 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 8:112,526,553...112,575,745
Ensembl chr 8:112,526,553...112,575,745
JBrowse link
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt3 AKT serine/threonine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22729224 NCBI chr13:95,076,308...95,348,913
Ensembl chr13:95,081,390...95,348,913
JBrowse link
G Ccnd2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24705253, PMID:29642246 NCBI chr 4:159,674,885...159,697,207
Ensembl chr 4:159,674,885...159,697,207
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22729224 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
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 chr16:20,415,109...20,424,982
Ensembl chr16:20,416,432...20,424,980
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 chr16:20,415,109...20,424,982
Ensembl chr16:20,416,432...20,424,980
JBrowse link
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 OMIM
ClinVar
PMID: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 chr13:95,076,308...95,348,913
Ensembl chr13:95,081,390...95,348,913
JBrowse link
G Cep170 centrosomal protein 170 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr13:94,807,090...94,887,448
Ensembl chr13:94,807,756...94,859,436
JBrowse link
G LOC689766 hypothetical protein LOC689766 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr13:95,885,189...95,908,003
Ensembl chr13:95,887,708...95,908,003
JBrowse link
G Pld5 phospholipase D family, member 5 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr13:94,025,696...94,355,219
Ensembl chr13:94,025,369...94,355,219
JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr13:94,888,046...95,100,833
Ensembl chr13:94,888,078...95,112,033
JBrowse link
G Zbtb18 zinc finger and BTB domain containing 18 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr13:95,582,234...95,593,316
Ensembl chr13:95,589,668...95,591,236
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 4:159,674,885...159,697,207
Ensembl chr 4:159,674,885...159,697,207
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 ClinVar Annotator: match by term: Normal pressure hydrocephalus OMIM
ClinVar
PMID:31004071 NCBI chr 1:267,511,359...267,598,642
Ensembl chr 1:267,511,523...267,598,639
JBrowse link
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Normal pressure hydrocephalus ClinVar PMID:10528257, PMID:25808372 NCBI chr 3:3,834,262...3,842,061
Ensembl chr 3:3,834,078...3,842,078
JBrowse link
obstructive hydrocephalus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo9a myosin IXA ISS MouseDO NCBI chr 8:64,573,248...64,777,607
Ensembl chr 8:64,573,358...64,777,543
JBrowse link
Posthemorrhagic Hydrocephalus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcan brevican treatment ISO RGD PMID:22186713 RGD:6483013 NCBI chr 2:187,359,674...187,373,133
Ensembl chr 2:187,359,677...187,372,657
JBrowse link
G L1cam L1 cell adhesion molecule ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:22186713 RGD:6483013 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
JBrowse link
Renal-Hepatic-Pancreatic Dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 1 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 8:112,526,553...112,575,745
Ensembl chr 8:112,526,553...112,575,745
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:15,742,978...15,754,925
Ensembl chr  X:15,742,978...15,754,925
JBrowse link
G Washc5 WASH complex subunit 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:99,625,379...99,677,237
Ensembl chr 7:99,625,619...99,677,268
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:15,742,978...15,754,925
Ensembl chr  X:15,742,978...15,754,925
JBrowse link
G Dpysl5 dihydropyrimidinase-like 5 ISO ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 ClinVar PMID:31474318 NCBI chr 6:26,939,696...27,024,129
Ensembl chr 6:26,939,697...27,024,129
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 chr 7:99,625,379...99,677,237
Ensembl chr 7:99,625,619...99,677,268
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:15,742,978...15,754,925
Ensembl chr  X:15,742,978...15,754,925
JBrowse link
syndromic X-linked intellectual disability 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1s2 adaptor related protein complex 1 subunit sigma 2 ISO 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
ClinVar
CTD
PMID:2018058, PMID:5054319, PMID:10398241, PMID:12599187, PMID:17186471, PMID:17617514, PMID:18414213, PMID:23756445, PMID:25741868 NCBI chr  X:32,329,883...32,376,301
Ensembl chr  X:32,329,598...32,355,307
JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: Pettigrew syndrome ClinVar PMID:25741868 NCBI chr  X:124,831,391...124,870,329
Ensembl chr  X:124,832,628...124,870,329
JBrowse link
ventriculomegaly - cystic kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crb2 crumbs cell polarity complex component 2 ISO ClinVar Annotator: match by term: Ventriculomegaly with cystic kidney disease ClinVar
OMIM
PMID:25557780, PMID:25741868 NCBI chr 3:22,037,812...22,061,247
Ensembl chr 3:22,038,357...22,058,871
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:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
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:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
JBrowse link
X-linked VACTERL association term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Baz1a bromodomain adjacent to zinc finger domain, 1A ISO ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations ClinVar NCBI chr 6:75,793,223...75,873,854
Ensembl chr 6:75,793,960...75,874,235
JBrowse link
G Fancb FA 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:31,124,018...31,140,790
Ensembl chr  X:31,124,018...31,140,711
JBrowse link
G Fancl FA complementation group L ISO ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked ClinVar PMID:25754594 NCBI chr14:110,675,306...110,740,880
Ensembl chr14:110,676,090...110,740,317
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 chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Sall1 spalt-like transcription factor 1 ISO ClinVar Annotator: match by term: VACTERL-H ClinVar PMID:25741868 NCBI chr19:23,387,737...23,405,025
Ensembl chr19:23,389,375...23,405,039
JBrowse link
G Zic3 Zic family member 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:140,875,191...140,888,344
Ensembl chr  X:140,878,216...140,888,795
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            hydrocephalus 124
              Aase Smith Syndrome 0
              Baker Vinters Syndrome 0
              Beemer Ertbruggen Syndrome 0
              Bor-Duane Hydrocephalus Contiguous Gene Syndrome 0
              Clark-Baraitser syndrome 2
              Cole-Carpenter syndrome + 2
              Congenital Hydrocephalus 2, with or without Brain or Eye Anomalies 2
              Congenital Hydrocephalus 3, with Brain Anomalies 1
              Daentl Towsend Siegel Syndrome 0
              Daish Hardman Lamont Syndrome 0
              Dandy-Walker syndrome + 29
              De Hauwere syndrome 0
              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 + 9
              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 + 2
              X-linked VACTERL association 6
              Yim Ebbin Syndrome 0
              chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 1
              communicating hydrocephalus + 8
              hydrolethalus syndrome + 3
              normal pressure hydrocephalus + 3
              obstructive hydrocephalus 1
              ventriculomegaly - cystic kidney disease 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            cerebral degeneration 278
              hydrocephalus 124
                Aase Smith Syndrome 0
                Baker Vinters Syndrome 0
                Beemer Ertbruggen Syndrome 0
                Bor-Duane Hydrocephalus Contiguous Gene Syndrome 0
                Clark-Baraitser syndrome 2
                Cole-Carpenter syndrome + 2
                Congenital Hydrocephalus 2, with or without Brain or Eye Anomalies 2
                Congenital Hydrocephalus 3, with Brain Anomalies 1
                Daentl Towsend Siegel Syndrome 0
                Daish Hardman Lamont Syndrome 0
                Dandy-Walker syndrome + 29
                De Hauwere syndrome 0
                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 + 9
                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 + 2
                X-linked VACTERL association 6
                Yim Ebbin Syndrome 0
                chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 1
                communicating hydrocephalus + 8
                hydrolethalus syndrome + 3
                normal pressure hydrocephalus + 3
                obstructive hydrocephalus 1
                ventriculomegaly - cystic kidney disease 1
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.