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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
 primary_id: MESH:D006849
 alt_id: OMIM:236600;   OMIM:236635
 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 Add1 adducin 1 (alpha) IEA OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 5:34,573,664...34,632,308
Ensembl chr 5:34,573,664...34,632,308
JBrowse link
G Ak7 adenylate kinase 7 IEA OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr12:105,703,858...105,782,447
Ensembl chr12:105,705,976...105,782,447
JBrowse link
G Ak8 adenylate kinase 8 IEA OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 2:28,698,275...28,813,165
Ensembl chr 2:28,700,164...28,813,165
JBrowse link
G Aqp1 aquaporin 1 disease_progression ISO RGD PMID:21135737 RGD:5148011 NCBI chr 6:55,336,299...55,348,555
Ensembl chr 6:55,336,432...55,348,555
JBrowse link
G Aqp4 aquaporin 4 disease_progression ISO RGD PMID:21135737 RGD:5148011 NCBI chr18:15,389,394...15,410,982
Ensembl chr18:15,389,496...15,410,982
JBrowse link
G Arid1b AT rich interactive domain 1B (SWI-like) IMP RGD PMID:28867767 RGD:13439722 NCBI chr17:4,994,297...5,347,656
Ensembl chr17:4,994,332...5,347,656
JBrowse link
G Arx aristaless related homeobox ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:25741868 NCBI chr  X:93,286,507...93,298,357
Ensembl chr  X:93,286,445...93,298,357
JBrowse link
G Asxl2 ASXL transcriptional regulator 2 ISO ClinVar Annotator: match by term: Severe hydrocephalus ClinVar PMID:25741868 NCBI chr12:3,426,857...3,510,811
Ensembl chr12:3,426,857...3,506,852
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 7:24,978,167...25,006,077
Ensembl chr 7:24,978,167...25,005,958
JBrowse link
G Bok BCL2-related ovarian killer ISO mRNA:increased expression:brain:Hydrocephalus-Texas (HTX, RS:0000399) vs. SD (RS:0000681) rats RGD PMID:15964663 RGD:1624238 NCBI chr 1:93,685,575...93,695,770
Ensembl chr 1:93,685,660...93,695,764
JBrowse link
G Cacna1i calcium channel, voltage-dependent, alpha 1I subunit ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:25741868 NCBI chr15:80,287,238...80,398,292
Ensembl chr15:80,287,238...80,398,279
JBrowse link
G Ccdc39 coiled-coil domain containing 39 IEA OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 3:33,810,757...33,844,325
Ensembl chr 3:33,812,362...33,844,310
JBrowse link
G Ccdc85c coiled-coil domain containing 85C IEA OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr12:108,203,599...108,277,852
Ensembl chr12:108,203,602...108,275,425
JBrowse link
G Ccdc88c coiled-coil domain containing 88C ISO ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive
ClinVar Annotator: match by OMIM:236600
OMIM
ClinVar
PMID:18414213 PMID:21031079 PMID:23042809 PMID:25062847 PMID:25741868 More... NCBI chr12:100,911,519...101,029,351
Ensembl chr12:100,911,523...101,029,056
JBrowse link
G Ccnd2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chr 6:127,125,162...127,152,188
Ensembl chr 6:127,125,162...127,152,193
JBrowse link
G Cdk8 cyclin-dependent kinase 8 ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:25741868 NCBI chr 5:146,230,795...146,302,874
Ensembl chr 5:146,231,230...146,302,874
JBrowse link
G Celsr2 cadherin, EGF LAG seven-pass G-type receptor 2 IEA OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 3:108,390,848...108,416,069
Ensembl chr 3:108,390,851...108,415,552
JBrowse link
G Crppa CDP-L-ribitol pyrophosphorylase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22522421 NCBI chr12:36,380,575...36,689,503
Ensembl chr12:36,381,450...36,689,503
JBrowse link
G Dnah9 dynein, axonemal, heavy chain 9 ISO ClinVar Annotator: match by term: Hydrocephalus ClinVar PMID:25741868 NCBI chr11:65,831,324...66,168,581
Ensembl chr11:65,831,282...66,168,551
JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Hydrocephalus ClinVar NCBI chr 9:21,800,180...21,852,718
Ensembl chr 9:21,799,860...21,852,635
JBrowse link
G Dpcd deleted in primary ciliary dyskinesia IEA OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr19:45,560,583...45,578,289
Ensembl chr19:45,560,615...45,579,763
JBrowse link
G E2f5 E2F transcription factor 5 IEA OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 3:14,578,602...14,606,309
Ensembl chr 3:14,578,641...14,606,309
JBrowse link
G Foxc1 forkhead box C1 IMP RGD PMID:9635428 RGD:8662364 NCBI chr13:31,806,646...31,810,635
Ensembl chr13:31,806,633...31,812,476
JBrowse link
G Fzd3 frizzled class receptor 3 IEA OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr14:65,192,441...65,262,463
Ensembl chr14:65,192,449...65,262,463
JBrowse link
G Gldc glycine decarboxylase IMP RGD PMID:25736695 RGD:12904662 NCBI chr19:30,098,441...30,175,441
Ensembl chr19:30,098,447...30,175,429
JBrowse link
G Hmgb1 high mobility group box 1 ISO RGD PMID:22116431 RGD:10402405 NCBI chr 5:149,046,702...149,053,057
Ensembl chr 5:149,046,702...149,184,489
JBrowse link
G Hspd1 heat shock protein 1 (chaperonin) ISO RGD PMID:15964663 RGD:1624238 NCBI chr 1:55,077,833...55,088,243
Ensembl chr 1:55,077,835...55,088,243
JBrowse link
G Hydin HYDIN, axonemal central pair apparatus protein IAGP
IEA
ISO
DNA:nonsense mutation:exon (mouse)
OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219
CTD Direct Evidence: marker/mechanism
MouseDO
CTD
RGD
PMID:12719380 PMID:19029900 PMID:12719380 RGD:634487 NCBI chr 8:110,266,968...110,610,253
Ensembl chr 8:110,266,977...110,610,253
JBrowse link
G Ift122 intraflagellar transport 122 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20493458 NCBI chr 6:115,853,379...115,926,699
Ensembl chr 6:115,853,470...115,926,699
JBrowse link
G Ipo11 importin 11 ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:29983323 NCBI chr13:106,794,439...106,936,958
Ensembl chr13:106,794,439...106,936,958
JBrowse link
G Itgb1 integrin beta 1 (fibronectin receptor beta) ISO RGD PMID:19726708 RGD:2325325 NCBI chr 8:128,685,654...128,733,579
Ensembl chr 8:128,685,654...128,733,200
JBrowse link
G Kcnt1 potassium channel, subfamily T, member 1 ISO ClinVar Annotator: match by term: Hydrocephalus ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:25,863,791...25,918,273
Ensembl chr 2:25,863,734...25,918,273
JBrowse link
G Kif27 kinesin family member 27 IEA OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr13:58,284,727...58,364,745
Ensembl chr13:58,287,502...58,359,122
JBrowse link
G L1cam L1 cell adhesion molecule ISS
ISO
OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219
ClinVar Annotator: match by term: X-linked hydrocephalus
MouseDO
ClinVar
PMID:7881431 PMID:9300653 PMID:25741868 PMID:31680349 NCBI chr  X:73,853,778...73,880,838
Ensembl chr  X:73,853,778...73,896,105
JBrowse link
G Llgl1 LLGL1 scribble cell polarity complex component IMP RGD PMID:15037549 RGD:1300301 NCBI chr11:60,699,672...60,714,186
Ensembl chr11:60,699,723...60,714,186
JBrowse link
G Mboat7 membrane bound O-acyltransferase domain containing 7 IEA OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 7:3,677,789...3,693,189
Ensembl chr 7:3,677,789...3,693,523
JBrowse link
G Mpdz multiple PDZ domain crumbs cell polarity complex component ISS
ISO
OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219
ClinVar Annotator: match by term: Congenital hydrocephalus
MouseDO
ClinVar
PMID:23240096 PMID:24033266 PMID:28492532 PMID:28556411 NCBI chr 4:81,278,499...81,442,897
Ensembl chr 4:81,278,500...81,442,815
JBrowse link
G Nme5 NME/NM23 family member 5 IEA OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr18:34,562,634...34,579,152
Ensembl chr18:34,562,634...34,579,115
JBrowse link
G Nme7 NME/NM23 family member 7 IEA OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 1:164,307,524...164,437,300
Ensembl chr 1:164,304,121...164,437,725
JBrowse link
G Ntf3 neurotrophin 3 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:11580868 RGD:1358755 NCBI chr 6:126,101,412...126,166,772
Ensembl chr 6:126,101,412...126,166,910
JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Hydrocephaly ClinVar PMID:25741868 NCBI chr 4:147,909,753...147,936,776
Ensembl chr 4:147,909,753...147,936,767
JBrowse link
G Pomk protein-O-mannose kinase IEA OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 8:25,980,604...25,994,121
Ensembl chr 8:25,980,604...25,994,133
JBrowse link
G 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 2:32,236,590...32,255,005
Ensembl chr 2:32,236,590...32,255,005
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO mRNA:decreased expression:brain:Hydrocephalus-Texas (HTX, RS:0000399) vs. SD (RS:0000681) rats RGD PMID:15964663 RGD:1624238 NCBI chr15:85,734,910...85,806,851
Ensembl chr15:85,734,983...85,802,819
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:28492532 PMID:29983323 NCBI chr13:63,508,328...63,573,460
Ensembl chr13:63,508,328...63,573,598
JBrowse link
G Setd2 SET domain containing 2 ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:31474318 NCBI chr 9:110,532,500...110,618,633
Ensembl chr 9:110,532,597...110,618,633
JBrowse link
G Sin3a transcriptional regulator, SIN3A (yeast) ISO CTD Direct Evidence: marker/mechanism CTD PMID:27399968 NCBI chr 9:57,071,991...57,128,368
Ensembl chr 9:57,072,040...57,128,366
JBrowse link
G Smarcc1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:29983323 NCBI chr 9:110,132,024...110,240,178
Ensembl chr 9:110,117,708...110,240,178
JBrowse link
G Sox3 SRY (sex determining region Y)-box 3 IEA OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr  X:60,891,366...60,893,430
Ensembl chr  X:60,891,366...60,893,430
JBrowse link
G Stk36 serine/threonine kinase 36 IEA OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 1:74,601,391...74,636,894
Ensembl chr 1:74,601,445...74,636,894
JBrowse link
G Tmem67 transmembrane protein 67 ISO RGD PMID:30705305 PMID:15052665 RGD:14995942, RGD:15014788 NCBI chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,355...12,090,020
JBrowse link
G Trappc12 trafficking protein particle complex 12 ISO ClinVar Annotator: match by term: Severe hydrocephalus ClinVar NCBI chr12:28,690,620...28,750,485
Ensembl chr12:28,690,628...28,750,472
JBrowse link
G Trim71 tripartite motif-containing 71 ISO ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:29983323 NCBI chr 9:114,511,268...114,564,369
Ensembl chr 9:114,507,133...114,564,369
JBrowse link
G Tubb5 tubulin, beta 5 class I ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:25741868 NCBI chr17:35,833,920...35,838,301
Ensembl chr17:35,833,921...35,838,306
JBrowse link
G Txn1 thioredoxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31310794 NCBI chr 4:57,943,373...57,956,411
Ensembl chr 4:57,943,373...57,956,411
JBrowse link
G Ulk4 unc-51-like kinase 4 IEA OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 9:120,964,454...121,286,159
Ensembl chr 9:120,955,351...121,277,197
JBrowse link
G Wdr37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:25741868 PMID:31327508 PMID:31327510 PMID:31474318 NCBI chr13:8,802,966...8,872,100
Ensembl chr13:8,802,968...8,871,909
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: Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
ClinVar Annotator: match by OMIM:300863
OMIM
ClinVar
PMID:16001442 PMID:20181727 PMID:25741868 PMID:28492532 NCBI chr  X:7,930,116...7,948,047
Ensembl chr  X:7,930,120...7,947,889
JBrowse link
Clark-Baraitser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 1:84,721,189...84,850,004
Ensembl chr 1:84,721,189...84,840,516
JBrowse link
Cole-Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P4hb prolyl 4-hydroxylase, beta polypeptide ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cole-Carpenter syndrome
CTD
ClinVar
PMID:25741868 NCBI chr11:120,560,298...120,573,253
Ensembl chr11:120,560,298...120,573,253
JBrowse link
G Sec24d Sec24 related gene family, member D (S. cerevisiae) ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:123,264,801...123,365,641
Ensembl chr 3:123,267,455...123,365,641
JBrowse link
Cole-Carpenter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P4hb prolyl 4-hydroxylase, beta polypeptide ISO ClinVar Annotator: match by term: Cole-Carpenter syndrome 1 OMIM
ClinVar
PMID:25683117 PMID:25741868 NCBI chr11:120,560,298...120,573,253
Ensembl chr11:120,560,298...120,573,253
JBrowse link
Cole-Carpenter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sec24d Sec24 related gene family, member D (S. cerevisiae) ISO ClinVar Annotator: match by term: Cole-Carpenter syndrome 2
ClinVar Annotator: match by term: Cole-carpenter syndrome 2
OMIM
ClinVar
PMID:25683121 PMID:25741868 PMID:26467156 PMID:27942778 PMID:30462379 NCBI chr 3:123,264,801...123,365,641
Ensembl chr 3:123,267,455...123,365,641
JBrowse link
communicating hydrocephalus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem67 transmembrane protein 67 ISO RGD PMID:30705305 RGD:14995942 NCBI chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,355...12,090,020
JBrowse link
Congenital Communicating Hydrocephalus 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trim71 tripartite motif-containing 71 ISO ClinVar Annotator: match by term: HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1 ClinVar
OMIM
PMID:29983323 NCBI chr 9:114,511,268...114,564,369
Ensembl chr 9:114,507,133...114,564,369
JBrowse link
Congenital Hydrocephalus 2, with or without Brain or Eye Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acadm acyl-Coenzyme A dehydrogenase, medium chain ISO ClinVar Annotator: match by term: Hydrocephalus, congenital, 2, with or without brain or eye anomalies ClinVar PMID:11673361 PMID:19780764 PMID:20434380 PMID:23028790 PMID:24966162 More... NCBI chr 3:153,922,353...153,944,643
Ensembl chr 3:153,922,357...153,944,632
JBrowse link
G Mpdz multiple PDZ domain crumbs cell polarity complex component ISO ClinVar Annotator: match by term: Hydrocephalus, congenital, 2, with or without brain or eye anomalies
ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive 2
ClinVar Annotator: match by OMIM:615219
OMIM
ClinVar
PMID:18414213 PMID:23240096 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 4:81,278,499...81,442,897
Ensembl chr 4:81,278,500...81,442,815
JBrowse link
Congenital Hydrocephalus 3, with Brain Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by term: HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES ClinVar
OMIM
PMID:25558065 PMID:25741868 PMID:28556411 NCBI chr11:75,440,943...75,454,808
Ensembl chr11:75,440,944...75,454,717
JBrowse link
Dandy Walker Cyst term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf Braf transforming gene ISO ClinVar Annotator: match by term: Dandy-Walker cyst ClinVar PMID:4386970 PMID:5771505 PMID:16372351 PMID:16523510 PMID:16804887 More... NCBI chr 6:39,603,231...39,725,658
Ensembl chr 6:39,603,237...39,725,463
JBrowse link
Dandy-Walker syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4932438A13Rik RIKEN cDNA 4932438A13 gene ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25558065 NCBI chr 3:36,863,063...37,053,033
Ensembl chr 3:36,863,104...37,053,033
JBrowse link
G Armc9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:28492532 PMID:28625504 PMID:31474318 NCBI chr 1:86,154,729...86,278,284
Ensembl chr 1:86,154,780...86,278,284
JBrowse link
G Braf Braf transforming gene ISO ClinVar Annotator: match by term: Dandy-Walker malformation ClinVar PMID:4386970 PMID:5771505 PMID:16372351 PMID:16523510 PMID:16804887 More... NCBI chr 6:39,603,231...39,725,658
Ensembl chr 6:39,603,237...39,725,463
JBrowse link
G Chn1 chimerin 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr 2:73,610,660...73,775,367
Ensembl chr 2:73,610,660...73,775,346
JBrowse link
G Dph1 diphthamide biosynthesis 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25558065 PMID:30877278 NCBI chr11:75,177,643...75,190,483
Ensembl chr11:75,177,643...75,191,241
JBrowse link
G Dpysl5 dihydropyrimidinase-like 5 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:3812597 PMID:31474318 PMID:33894126 NCBI chr 5:30,711,564...30,799,369
Ensembl chr 5:30,711,564...30,799,375
JBrowse link
G Foxc1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19668217 NCBI chr13:31,806,646...31,810,635
Ensembl chr13:31,806,633...31,812,476
JBrowse link
G Hyls1 HYLS1, centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chr 9:35,560,821...35,570,069
Ensembl chr 9:35,560,820...35,570,398
JBrowse link
G Ints1 integrator complex subunit 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar NCBI chr 5:139,751,282...139,775,702
Ensembl chr 5:139,751,282...139,775,674
JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr 1:93,015,455...93,102,039
Ensembl chr 1:93,015,464...93,101,951
JBrowse link
G Kmt2d lysine (K)-specific methyltransferase 2D ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr15:98,831,669...98,874,077
Ensembl chr15:98,831,669...98,871,204
JBrowse link
G Maged2 MAGE family member D2 ISO ClinVar Annotator: match by term: Dandy-Walker malformation ClinVar NCBI chr  X:150,806,421...150,814,362
Ensembl chr  X:150,806,370...150,814,345
JBrowse link
G Mid1 midline 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:15121778 PMID:15558842 PMID:25741868 NCBI chr  X:169,685,199...169,990,798
Ensembl chr  X:169,685,199...170,005,736
JBrowse link
G Pdgfrb platelet derived growth factor receptor, beta polypeptide ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:12181311 PMID:25292412 PMID:28334876 PMID:28639748 PMID:31474318 NCBI chr18:61,045,127...61,085,067
Ensembl chr18:61,045,150...61,085,061
JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 PMID:26167768 PMID:30858804 PMID:31474318 NCBI chr14:99,099,424...99,254,899
Ensembl chr14:99,099,424...99,254,493
JBrowse link
G Ppp1cb protein phosphatase 1 catalytic subunit beta ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 PMID:25741869 PMID:27264673 PMID:27681385 PMID:27868344 More... NCBI chr 5:32,458,848...32,493,713
Ensembl chr 5:32,458,843...32,517,433
JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chr 9:35,558,560...35,567,401
Ensembl chr 9:35,558,595...35,567,401
JBrowse link
G Setd2 SET domain containing 2 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chr 9:110,532,500...110,618,633
Ensembl chr 9:110,532,597...110,618,633
JBrowse link
G Tmem47 transmembrane protein 47 ISO ClinVar Annotator: match by term: Dandy-Walker malformation ClinVar NCBI chr  X:81,070,644...81,097,875
Ensembl chr  X:81,070,698...81,097,872
JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:20466733 PMID:25741868 PMID:30744660 PMID:31474318 NCBI chr15:98,949,847...98,953,501
Ensembl chr15:98,949,837...98,953,703
JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr 5:36,966,104...36,988,982
Ensembl chr 5:36,966,104...36,989,205
JBrowse link
G Zfp423 zinc finger protein 423 IEA OMIM:220200 MouseDO NCBI chr 8:87,661,810...87,962,053
Ensembl chr 8:87,661,810...87,959,595
JBrowse link
G Zic1 zinc finger protein of the cerebellum 1 ISO
IEA
OMIM:220200 MouseDO
RGD
PMID:15338008 RGD:1599905 NCBI chr 9:91,358,058...91,365,768
Ensembl chr 9:91,358,058...91,365,810
JBrowse link
G Zic4 zinc finger protein of the cerebellum 4 IEA OMIM:220200 MouseDO NCBI chr 9:91,365,631...91,389,351
Ensembl chr 9:91,362,413...91,389,348
JBrowse link
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 9:35,560,821...35,570,069
Ensembl chr 9:35,560,820...35,570,398
JBrowse link
G Kif7 kinesin family member 7 ISO
IEA
CTD Direct Evidence: marker/mechanism
OMIM:236680 | OMIM:614120
CTD
MouseDO
PMID:21552264 NCBI chr 7:79,698,098...79,715,772
Ensembl chr 7:79,698,098...79,715,720
JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Hydrolethalus syndrome ClinVar PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 More... NCBI chr 9:35,558,560...35,567,401
Ensembl chr 9:35,558,595...35,567,401
JBrowse link
hydrolethalus syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hyls1 HYLS1, centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Hydrolethalus syndrome 1 OMIM
ClinVar
PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 More... NCBI chr 9:35,560,821...35,570,069
Ensembl chr 9:35,560,820...35,570,398
JBrowse link
G Kif7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:79,698,098...79,715,772
Ensembl chr 7:79,698,098...79,715,720
JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Hydrolethalus syndrome 1 ClinVar PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 More... NCBI chr 9:35,558,560...35,567,401
Ensembl chr 9:35,558,595...35,567,401
JBrowse link
hydrolethalus syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Hydrolethalus syndrome 2 OMIM
ClinVar
PMID:21552264 PMID:25741868 PMID:28492532 NCBI chr 7:79,698,098...79,715,772
Ensembl chr 7:79,698,098...79,715,720
JBrowse link
Meckel syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp3 nephronophthisis 3 (adolescent) ISO ClinVar Annotator: match by term: Meckel syndrome type 7 OMIM
ClinVar
PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 PMID:17855640 More... NCBI chr 9:104,002,544...104,043,811
Ensembl chr 9:104,002,544...104,043,818
JBrowse link
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt3 thymoma viral proto-oncogene 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22729224 NCBI chr 1:177,020,076...177,261,781
Ensembl chr 1:177,020,073...177,258,203
JBrowse link
G Ccnd2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24705253 PMID:29642246 NCBI chr 6:127,125,162...127,152,188
Ensembl chr 6:127,125,162...127,152,193
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22729224 NCBI chr 3:32,397,065...32,466,112
Ensembl chr 3:32,397,671...32,468,486
JBrowse link
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME
CTD
ClinVar
PMID:16357568 PMID:21984976 PMID:22729224 PMID:24497998 PMID:25741868 More... NCBI chr 8:70,768,176...70,776,712
Ensembl chr 8:70,768,176...70,776,713
JBrowse link
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 OMIM
ClinVar
PMID:9536098 PMID:16357568 PMID:17576681 PMID:17675034 PMID:21984976 More... NCBI chr 8:70,768,176...70,776,712
Ensembl chr 8:70,768,176...70,776,713
JBrowse link
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1700016C15Rik RIKEN cDNA 1700016C15 gene ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:177,728,137...177,753,309
Ensembl chr 1:177,729,814...177,753,324
JBrowse link
G Akt3 thymoma viral proto-oncogene 3 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 OMIM
ClinVar
PMID:18813315 PMID:22500628 PMID:22729223 PMID:22729224 PMID:23745724 More... NCBI chr 1:177,020,076...177,261,781
Ensembl chr 1:177,020,073...177,258,203
JBrowse link
G Cep170 centrosomal protein 170 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:176,729,072...176,813,979
Ensembl chr 1:176,733,653...176,814,067
JBrowse link
G Pld5 phospholipase D family, member 5 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:175,962,301...176,281,512
Ensembl chr 1:175,962,306...176,275,312
JBrowse link
G Sdccag8 serologically defined colon cancer antigen 8 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:176,814,660...177,020,438
Ensembl chr 1:176,814,660...177,020,437
JBrowse link
G Zbtb18 zinc finger and BTB domain containing 18 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:177,442,351...177,450,764
Ensembl chr 1:177,442,351...177,450,764
JBrowse link
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnd2 cyclin D2 ISO ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 OMIM
ClinVar
PMID:17486076 PMID:24705253 PMID:25741868 PMID:26795593 PMID:28492532 NCBI chr 6:127,125,162...127,152,188
Ensembl chr 6:127,125,162...127,152,193
JBrowse link
normal pressure hydrocephalus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap43 cilia and flagella associated protein 43 ISO
IEA
OMIM:236690
ClinVar Annotator: match by term: Normal pressure hydrocephalus
OMIM
MouseDO
ClinVar
PMID:31004071 NCBI chr19:47,736,857...47,837,454
Ensembl chr19:47,736,857...47,919,287
JBrowse link
G Pmpca peptidase (mitochondrial processing) alpha ISO ClinVar Annotator: match by term: Normal pressure hydrocephalus ClinVar PMID:10528257 PMID:25808372 NCBI chr 2:26,389,348...26,397,121
Ensembl chr 2:26,389,339...26,397,122
JBrowse link
obstructive hydrocephalus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo9a myosin IXa IEA MouseDO NCBI chr 9:59,750,848...59,928,866
Ensembl chr 9:59,750,896...59,928,866
JBrowse link
Posthemorrhagic Hydrocephalus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcan brevican treatment ISO RGD PMID:22186713 RGD:6483013 NCBI chr 3:87,987,531...88,002,175
Ensembl chr 3:87,987,531...88,000,230
JBrowse link
G L1cam L1 cell adhesion molecule ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:22186713 RGD:6483013 NCBI chr  X:73,853,778...73,880,838
Ensembl chr  X:73,853,778...73,896,105
JBrowse link
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 9:104,002,544...104,043,811
Ensembl chr 9:104,002,544...104,043,818
JBrowse link
Ritscher-Schinzel syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc22 coiled-coil domain containing 22 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:7,593,809...7,605,420
Ensembl chr  X:7,593,809...7,605,517
JBrowse link
G Washc5 WASH complex subunit 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:59,331,863...59,374,194
Ensembl chr15:59,331,997...59,374,167
JBrowse link
Ritscher-Schinzel syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 ClinVar PMID:19377476 PMID:21826058 PMID:24916641 PMID:31971710 NCBI chr  X:7,593,809...7,605,420
Ensembl chr  X:7,593,809...7,605,517
JBrowse link
G Dpysl5 dihydropyrimidinase-like 5 ISO ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 ClinVar PMID:3812597 PMID:31474318 PMID:33894126 NCBI chr 5:30,711,564...30,799,369
Ensembl chr 5:30,711,564...30,799,375
JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 OMIM
ClinVar
PMID:7604842 PMID:17160902 PMID:23455931 PMID:24065355 PMID:24824269 More... NCBI chr15:59,331,863...59,374,194
Ensembl chr15:59,331,997...59,374,167
JBrowse link
Ritscher-Schinzel syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: Ritscher-schinzel syndrome 2 OMIM
ClinVar
PMID:19377476 PMID:21826058 PMID:24916641 PMID:25741868 PMID:28492532 More... NCBI chr  X:7,593,809...7,605,420
Ensembl chr  X:7,593,809...7,605,517
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 ClinVar
OMIM
PMID:31712251 NCBI chr 7:118,740,178...118,841,491
Ensembl chr 7:118,740,226...118,842,966
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:31474318 PMID:33894126 NCBI chr 5:30,711,564...30,799,369
Ensembl chr 5:30,711,564...30,799,375
JBrowse link
syndromic X-linked intellectual disability 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1s2 adaptor-related protein complex 1, sigma 2 subunit ISO
IEA
ClinVar Annotator: match by term: Pettigrew syndrome
OMIM:304340
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mental retardation X-linked syndromic 5
ClinVar Annotator: match by OMIM:304340
OMIM
ClinVar
MouseDO
CTD
PMID:2018058 PMID:5054319 PMID:10398241 PMID:12599187 PMID:17186471 More... NCBI chr  X:163,908,454...163,933,666
Ensembl chr  X:163,909,017...163,933,666
JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: Pettigrew syndrome ClinVar PMID:25741868 NCBI chr  X:38,531,616...38,576,196
Ensembl chr  X:38,533,274...38,576,196
JBrowse link
ventriculomegaly - cystic kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crb2 crumbs family member 2 ISO ClinVar Annotator: match by term: Ventriculomegaly with cystic kidney disease ClinVar
OMIM
PMID:25557779 PMID:25557780 PMID:25741868 PMID:26925547 PMID:27004616 More... NCBI chr 2:37,776,225...37,799,103
Ensembl chr 2:37,776,249...37,799,103
JBrowse link
X-Linked Hydrocephalus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G L1cam L1 cell adhesion molecule ISO
IMP
DNA:snps:cds:multiple (human)
ClinVar Annotator: match by term: Hydrocephalus due to aqueductal stenosis
CTD Direct Evidence: marker/mechanism
C57BL/6J background
ClinVar
CTD
OMIM
RGD
PMID:7920659 PMID:7920660 PMID:10469653 PMID:10767310 PMID:11772994 More... RGD:6483012, RGD:14695001, RGD:6483078 NCBI chr  X:73,853,778...73,880,838
Ensembl chr  X:73,853,778...73,896,105
JBrowse link
X-Linked Hydrocephalus, with Congenital Idiopathic Intestinal Pseudoobstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Hydrocephalus, X-linked, with hirschsprung disease
ClinVar Annotator: match by term: HYDROCEPHALUS, X-LINKED, WITH HIRSCHSPRUNG DISEASE
ClinVar PMID:9279760 PMID:11857550 PMID:12650797 PMID:15148591 PMID:15368500 More... NCBI chr  X:73,853,778...73,880,838
Ensembl chr  X:73,853,778...73,896,105
JBrowse link
X-linked VACTERL association term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Baz1a bromodomain adjacent to zinc finger domain 1A ISO ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations ClinVar NCBI chr12:54,892,989...55,014,371
Ensembl chr12:54,892,989...55,014,348
JBrowse link
G Fancb Fanconi anemia, complementation group B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL-H
CTD
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr  X:164,980,480...164,997,272
Ensembl chr  X:164,980,592...164,997,272
JBrowse link
G Fancl Fanconi anemia, complementation group L ISO ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked ClinVar PMID:25754594 NCBI chr11:26,387,084...26,471,883
Ensembl chr11:26,386,135...26,471,876
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL-H
ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly
CTD
ClinVar
PMID:9399897 PMID:9467011 PMID:10232405 PMID:10353779 PMID:10400993 More... NCBI chr19:32,757,577...32,826,160
Ensembl chr19:32,757,497...32,826,160
JBrowse link
G Sall1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: VACTERL-H ClinVar PMID:25741868 NCBI chr 8:89,027,242...89,044,162
Ensembl chr 8:89,027,235...89,044,162
JBrowse link
G Zic3 zinc finger protein of the cerebellum 3 ISO ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus
ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked
ClinVar Annotator: match by OMIM:314390
OMIM
ClinVar
PMID:2629409 PMID:10980576 PMID:14681828 PMID:17764085 PMID:23427188 More... NCBI chr  X:58,030,628...58,036,630
Ensembl chr  X:58,022,700...58,041,736
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14537
    disease of anatomical entity 14137
      nervous system disease 11638
        central nervous system disease 10150
          brain disease 9533
            cerebral degeneration 353
              hydrocephalus 111
                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
                Daentl Towsend Siegel Syndrome 0
                Daish Hardman Lamont Syndrome 0
                Dandy-Walker syndrome + 30
                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 + 1
                X-linked VACTERL association 6
                Yim Ebbin Syndrome 0
                chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 1
                communicating hydrocephalus + 4
                hydrolethalus syndrome + 3
                normal pressure hydrocephalus + 2
                obstructive hydrocephalus 1
                ventriculomegaly - cystic kidney disease 1
paths to the root