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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 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 4:2,843,844...2,930,062
Ensembl chr 4:2,843,844...2,930,076 		JBrowse link
G AK7 adenylate kinase 7 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr14:96,392,128...96,489,427
Ensembl chr14:96,392,128...96,489,427 		JBrowse link
G AK8 adenylate kinase 8 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 9:132,725,578...132,879,046
Ensembl chr 9:132,725,578...132,878,777 		JBrowse link
G AQP1 aquaporin 1 (Colton blood group) disease_progression ISO RGD PMID:21135737 RGD:5148011 NCBI chr 7:30,911,853...30,925,516
Ensembl chr 7:30,911,853...30,925,517 		JBrowse link
G AQP4 aquaporin 4 disease_progression ISO RGD PMID:21135737 RGD:5148011 NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771 		JBrowse link
G ARID1B AT-rich interaction domain 1B ISO RGD PMID:28867767 RGD:13439722 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779 		JBrowse link
G ARX aristaless related homeobox IAGP ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:25741868 NCBI chr  X:25,003,694...25,015,965
Ensembl chr  X:25,003,694...25,016,420 		JBrowse link
G ASXL2 ASXL transcriptional regulator 2 IAGP ClinVar Annotator: match by term: Severe hydrocephalus ClinVar PMID:25741868 NCBI chr 2:25,733,753...25,878,487
Ensembl chr 2:25,733,753...25,878,487 		JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:25741868 PMID:28492532 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497 		JBrowse link
G BOK BCL2 family apoptosis regulator BOK ISO mRNA:increased expression:brain:Hydrocephalus-Texas (HTX, RS:0000399) vs. SD (RS:0000681) rats RGD PMID:15964663 RGD:1624238 NCBI chr 2:241,551,393...241,574,131
Ensembl chr 2:241,551,424...241,574,131 		JBrowse link
G CACNA1I calcium voltage-gated channel subunit alpha1 I IAGP ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:25741868 NCBI chr22:39,570,753...39,689,735
Ensembl chr22:39,570,753...39,689,735 		JBrowse link
G CCDC39 coiled-coil domain containing 39 ISS
ISO		 OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO
RGD		 PMID:31771992 RGD:150521527 NCBI chr 3:180,614,008...180,679,489
Ensembl chr 3:180,602,858...180,684,942 		JBrowse link
G CCDC85C coiled-coil domain containing 85C ISS
ISO		 OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO
RGD		 PMID:31341137 RGD:150520163 NCBI chr14:99,500,190...99,604,207
Ensembl chr14:99,500,190...99,604,207 		JBrowse link
G CCDC88C coiled-coil domain containing 88C IAGP ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive
ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive 1		 ClinVar
OMIM		 PMID:18414213 PMID:21031079 PMID:23042809 PMID:25062847 PMID:25741868 More... NCBI chr14:91,271,323...91,417,820
Ensembl chr14:91,271,323...91,417,844 		JBrowse link
G CCND2 cyclin D2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353 		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 1:109,249,539...109,275,751
Ensembl chr 1:109,249,539...109,275,751 		JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A EXP CTD Direct Evidence: marker/mechanism CTD PMID:22522421 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504 		JBrowse link
G DNAH9 dynein axonemal heavy chain 9 IAGP ClinVar Annotator: match by term: Hydrocephalus ClinVar PMID:25741868 PMID:28492532 PMID:30471718 NCBI chr17:11,598,470...11,969,748
Ensembl chr17:11,598,470...11,969,748 		JBrowse link
G DOCK6 dedicator of cytokinesis 6 IAGP ClinVar Annotator: match by term: Hydrocephalus ClinVar NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524 		JBrowse link
G DPCD deleted in primary ciliary dyskinesia homolog (mouse) ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr10:101,588,321...101,609,662
Ensembl chr10:101,570,560...101,609,662 		JBrowse link
G DPH1 diphthamide biosynthesis 1 IAGP ClinVar Annotator: match by term: Hydrocephalus ClinVar PMID:25558065 PMID:30877278 NCBI chr17:2,030,112...2,043,898
Ensembl chr17:2,030,137...2,043,898 		JBrowse link
G DUSP1 dual specificity phosphatase 1 IAGP ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:29983323 NCBI chr 5:172,768,096...172,771,195
Ensembl chr 5:172,768,096...172,771,195 		JBrowse link
G E2F5 E2F transcription factor 5 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 8:85,177,154...85,214,518
Ensembl chr 8:85,177,154...85,217,158 		JBrowse link
G ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 IAGP ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:29983323 NCBI chr 5:172,834,251...172,952,683
Ensembl chr 5:172,834,251...172,952,792 		JBrowse link
G FGF18 fibroblast growth factor 18 IAGP ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:29983323 NCBI chr 5:171,419,647...171,457,626
Ensembl chr 5:171,419,647...171,457,626 		JBrowse link
G FOXC1 forkhead box C1 ISO RGD PMID:9635428 RGD:8662364 NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897 		JBrowse link
G GLDC glycine decarboxylase ISO RGD PMID:25736695 RGD:12904662 NCBI chr 9:6,532,467...6,645,729
Ensembl chr 9:6,532,467...6,645,729 		JBrowse link
G HMGB1 high mobility group box 1 ISO RGD PMID:22116431 RGD:10402405 NCBI chr13:30,456,704...30,617,597
Ensembl chr13:30,456,704...30,617,597 		JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:15964663 RGD:1624238 NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737 		JBrowse link
G HYDIN HYDIN axonemal central pair apparatus protein ISO
EXP		 DNA:nonsense mutation:exon (mouse)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:12719380 PMID:19029900 PMID:12719380 RGD:634487 NCBI chr16:70,802,084...71,230,722
Ensembl chr16:70,802,084...71,230,722 		JBrowse link
G IFT122 intraflagellar transport 122 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20493458 NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510 		JBrowse link
G IPO11 importin 11 IAGP ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:29983323 NCBI chr 5:62,412,763...62,628,582
Ensembl chr 5:62,403,972...62,628,582 		JBrowse link
G ITGB1 integrin subunit beta 1 ISO RGD PMID:19726708 RGD:2325325 NCBI chr10:32,900,318...32,958,230
Ensembl chr10:32,887,273...33,005,792 		JBrowse link
G KCNT1 potassium sodium-activated channel subfamily T member 1 IAGP ClinVar Annotator: match by term: Hydrocephalus ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:135,702,185...135,795,502
Ensembl chr 9:135,702,185...135,795,508 		JBrowse link
G KIF27 kinesin family member 27 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 9:83,834,099...83,921,432
Ensembl chr 9:83,834,099...83,921,465 		JBrowse link
G L1CAM L1 cell adhesion molecule IAGP ClinVar Annotator: match by term: X-linked hydrocephalus ClinVar PMID:7562969 PMID:7881431 PMID:8929944 PMID:9300653 PMID:16650080 More... NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,514...153,886,173 		JBrowse link
G LLGL1 LLGL scribble cell polarity complex component 1 ISO RGD PMID:15037549 RGD:1300301 NCBI chr17:18,225,635...18,244,875
Ensembl chr17:18,225,635...18,244,875 		JBrowse link
G LOC100507346 uncharacterized LOC100507346 IAGP ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:29983323 NCBI chr 9:95,463,609...95,470,019 JBrowse link
G MBOAT7 membrane bound O-acyltransferase domain containing 7 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr19:54,173,415...54,189,580
Ensembl chr19:54,173,412...54,189,882 		JBrowse link
G MPDZ multiple PDZ domain crumbs cell polarity complex component IAGP ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:23240096 PMID:24033266 PMID:28492532 PMID:28556411 NCBI chr 9:13,105,707...13,279,692
Ensembl chr 9:13,105,706...13,279,692 		JBrowse link
G NEURL1B neuralized E3 ubiquitin protein ligase 1B IAGP ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:29983323 NCBI chr 5:172,641,263...172,691,540
Ensembl chr 5:172,641,263...172,691,540 		JBrowse link
G NME5 NME/NM23 family member 5 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 5:138,115,175...138,139,428
Ensembl chr 5:138,115,175...138,139,443 		JBrowse link
G NME7 NME/NM23 family member 7 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 1:169,132,531...169,367,797
Ensembl chr 1:169,132,531...169,367,948 		JBrowse link
G NPM1 nucleophosmin 1 IAGP ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:29983323 NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810 		JBrowse link
G NTF3 neurotrophin 3 IEP protein:increased expression:cerebrospinal fluid (human) RGD PMID:11580868 RGD:1358755 NCBI chr12:5,430,332...5,495,299
Ensembl chr12:5,432,108...5,521,536 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP ClinVar Annotator: match by term: Hydrocephalus ClinVar PMID:12181311 PMID:25292412 PMID:25741868 PMID:28334876 PMID:28639748 More... NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP ClinVar Annotator: match by term: Hydrocephaly ClinVar PMID:25741868 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP ClinVar Annotator: match by term: Hydrocephalus ClinVar PMID:25741868 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305 		JBrowse link
G POMK protein O-mannose kinase ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:12369018 PMID:16575835 PMID:17559086 PMID:18640039 PMID:18752264 More... NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		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 chr22:46,150,526...46,243,756
Ensembl chr22:46,150,521...46,243,755 		JBrowse link
G PTCH1 patched 1 IAGP ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:28492532 PMID:29983323 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G RANBP17 RAN binding protein 17 IAGP ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:29983323 NCBI chr 5:170,862,018...171,300,015
Ensembl chr 5:170,861,870...171,300,015 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase IAGP ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:31474318 NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113 		JBrowse link
G SGCD sarcoglycan delta IAGP ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:29983323 NCBI chr 5:155,727,832...156,767,788
Ensembl chr 5:155,870,344...156,767,788 		JBrowse link
G SIN3A SIN3 transcription regulator family member A EXP CTD Direct Evidence: marker/mechanism CTD PMID:27399968 NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842 		JBrowse link
G SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 IAGP ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:29983323 NCBI chr 3:47,585,269...47,781,893
Ensembl chr 3:47,585,269...47,782,106 		JBrowse link
G SOX3 SRY-box transcription factor 3 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr  X:140,502,985...140,505,069
Ensembl chr  X:140,502,985...140,505,069 		JBrowse link
G STK36 serine/threonine kinase 36 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 2:218,672,086...218,702,717
Ensembl chr 2:218,672,069...218,702,716 		JBrowse link
G TMEM67 transmembrane protein 67 ISO RGD PMID:15052665 PMID:30705305 RGD:15014788, RGD:14995942 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G TRAPPC12 trafficking protein particle complex subunit 12 IAGP ClinVar Annotator: match by term: Severe hydrocephalus ClinVar NCBI chr 2:3,379,694...3,479,565
Ensembl chr 2:3,379,675...3,485,094 		JBrowse link
G TRIM71 tripartite motif containing 71 IAGP ClinVar Annotator: match by term: Congenital hydrocephalus ClinVar PMID:25741868 PMID:29983323 NCBI chr 3:32,817,997...32,897,824
Ensembl chr 3:32,817,997...32,897,824 		JBrowse link
G TTC26 tetratricopeptide repeat domain 26 IAGP ClinVar Annotator: match by term: Hydrocephalus ClinVar PMID:31595528 PMID:34177428 NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986 		JBrowse link
G TUBB tubulin beta class I IAGP ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:25741868 NCBI chr 6:30,720,352...30,725,422
Ensembl chr 6:30,717,435...30,725,538 		JBrowse link
G TXN thioredoxin EXP CTD Direct Evidence: marker/mechanism CTD PMID:31310794 NCBI chr 9:110,243,810...110,256,507
Ensembl chr 9:110,243,810...110,256,507 		JBrowse link
G ULK4 unc-51 like kinase 4 ISS OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 MouseDO NCBI chr 3:41,246,599...41,962,103
Ensembl chr 3:41,246,599...41,962,130 		JBrowse link
G WDR37 WD repeat domain 37 IAGP ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:25741868 PMID:31327508 PMID:31327510 PMID:31474318 NCBI chr10:1,056,385...1,132,372
Ensembl chr10:1,049,538...1,160,991 		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 IAGP ClinVar Annotator: match by term: Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
ClinVar Annotator: match by term: X-linked dominant chondrodysplasia, Chassaing-Lacombe type		 ClinVar
OMIM		 PMID:16001442 PMID:20181727 PMID:25741868 PMID:28492532 NCBI chr  X:48,801,398...48,824,982
Ensembl chr  X:48,801,377...48,824,982 		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 IAGP ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 49
ClinVar Annotator: match by term: Clark-Baraitser syndrome
ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 49		 ClinVar
OMIM		 PMID:3812552 PMID:25363768 PMID:25741868 PMID:27848077 PMID:28251352 More... NCBI chr 2:229,763,837...229,923,186
Ensembl chr 2:229,763,837...229,923,239 		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 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cole-Carpenter syndrome		 CTD
ClinVar		 PMID:25741868 NCBI chr17:81,843,166...81,860,535
Ensembl chr17:81,843,159...81,860,856 		JBrowse link
G SEC24D SEC24 homolog D, COPII coat complex component EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:118,722,823...118,836,126
Ensembl chr 4:118,722,823...118,838,683 		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 IAGP ClinVar Annotator: match by term: Cole-Carpenter syndrome 1 ClinVar
OMIM		 PMID:25683117 PMID:25741868 PMID:28492532 NCBI chr17:81,843,166...81,860,535
Ensembl chr17:81,843,159...81,860,856 		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 IAGP ClinVar Annotator: match by term: Cole-carpenter syndrome 2
ClinVar Annotator: match by term: Cole-Carpenter syndrome 2		 ClinVar
OMIM		 PMID:25683121 PMID:25741868 PMID:26467156 PMID:27942778 PMID:28492532 More... NCBI chr 4:118,722,823...118,836,126
Ensembl chr 4:118,722,823...118,838,683 		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 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		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 IAGP ClinVar Annotator: match by term: Hydrocephalus, congenital communicating, 1
ClinVar Annotator: match by term: HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1		 OMIM
ClinVar		 PMID:25741868 PMID:29983323 NCBI chr 3:32,817,997...32,897,824
Ensembl chr 3:32,817,997...32,897,824 		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 IAGP ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive 2 ClinVar PMID:11673361 PMID:19780764 PMID:20434380 PMID:23028790 PMID:24966162 More... NCBI chr 1:75,724,709...75,763,679
Ensembl chr 1:75,724,431...75,787,575 		JBrowse link
G MPDZ multiple PDZ domain crumbs cell polarity complex component IAGP 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
OMIM		 PMID:18414213 PMID:23240096 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 9:13,105,707...13,279,692
Ensembl chr 9:13,105,706...13,279,692 		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 IAGP ClinVar Annotator: match by term: HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES
ClinVar Annotator: match by term: Hydrocephalus, congenital, 3, with brain anomalies
ClinVar Annotator: match by term: HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 3		 ClinVar
OMIM		 PMID:16371500 PMID:21885617 PMID:25558065 PMID:25741868 PMID:28492532 More... NCBI chr17:1,716,523...1,738,585
Ensembl chr17:1,716,523...1,738,599 		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 IAGP ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:28492532 PMID:28625504 PMID:31474318 NCBI chr 2:231,198,631...231,376,848
Ensembl chr 2:231,198,546...231,376,848 		JBrowse link
G BLTP1 bridge-like lipid transfer protein family member 1 IAGP ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25558065 NCBI chr 4:122,152,331...122,362,752
Ensembl chr 4:122,152,331...122,364,167 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Dandy-Walker malformation ClinVar PMID:4386970 PMID:5771505 PMID:16372351 PMID:16523510 PMID:16804887 More... NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G CHN1 chimerin 1 IAGP ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr 2:174,798,809...175,005,381
Ensembl chr 2:174,798,809...175,005,381 		JBrowse link
G DPH1 diphthamide biosynthesis 1 IAGP ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25558065 PMID:30877278 NCBI chr17:2,030,112...2,043,898
Ensembl chr17:2,030,137...2,043,898 		JBrowse link
G DPYSL5 dihydropyrimidinase like 5 IAGP ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:3812597 PMID:31474318 PMID:33894126 NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351 		JBrowse link
G FOXC1 forkhead box C1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19668217 NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897 		JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP ClinVar Annotator: match by term: Dandy-Walker malformation
ClinVar Annotator: match by term: Dandy-Walker syndrome		 ClinVar PMID:25741868 PMID:28492532 PMID:30697592 PMID:31474318 NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646 		JBrowse link
G INTS1 integrator complex subunit 1 IAGP ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar NCBI chr 7:1,470,277...1,504,389
Ensembl chr 7:1,470,277...1,504,389 		JBrowse link
G KIF1A kinesin family member 1A IAGP ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293 		JBrowse link
G KMT2D lysine methyltransferase 2D IAGP ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G MAGED2 MAGE family member D2 IAGP ClinVar Annotator: match by term: Dandy-Walker cyst ClinVar NCBI chr  X:54,807,745...54,816,015
Ensembl chr  X:54,807,599...54,816,015 		JBrowse link
G MID1 midline 1 IAGP ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:15121778 PMID:15558842 PMID:25741868 NCBI chr  X:10,445,310...10,833,683
Ensembl chr  X:10,445,310...10,833,654 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP ClinVar Annotator: match by term: Dandy-Walker malformation ClinVar PMID:12181311 PMID:25292412 PMID:25741868 PMID:28334876 PMID:28639748 More... NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G PIBF1 progesterone immunomodulatory binding factor 1 IAGP ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 PMID:26167768 PMID:30858804 PMID:31474318 NCBI chr13:72,782,133...73,016,461
Ensembl chr13:72,782,133...73,016,461 		JBrowse link
G PPP1CB protein phosphatase 1 catalytic subunit beta IAGP ClinVar Annotator: match by term: Dandy-Walker malformation ClinVar PMID:25741868 PMID:25741869 PMID:27264673 PMID:27681385 PMID:27868344 More... NCBI chr 2:28,751,604...28,802,940
Ensembl chr 2:28,751,640...28,802,940 		JBrowse link
G PUS3 pseudouridine synthase 3 IAGP ClinVar Annotator: match by term: Dandy-Walker malformation
ClinVar Annotator: match by term: Dandy-Walker syndrome		 ClinVar PMID:25741868 PMID:28492532 PMID:30697592 PMID:31474318 NCBI chr11:125,893,485...125,903,206
Ensembl chr11:125,893,485...125,903,221 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase IAGP ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113 		JBrowse link
G TMEM47 transmembrane protein 47 IAGP ClinVar Annotator: match by term: Dandy-Walker cyst ClinVar NCBI chr  X:34,627,075...34,657,285
Ensembl chr  X:34,627,075...34,657,285 		JBrowse link
G TUBA1A tubulin alpha 1a IAGP ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:20466733 PMID:25741868 PMID:28492532 PMID:30744660 PMID:31474318 More... NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,080 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		JBrowse link
G ZIC1 Zic family member 1 IAGP
ISS		 OMIM:220200 MouseDO
RGD		 PMID:15338008 RGD:1599905 NCBI chr 3:147,409,365...147,416,719
Ensembl chr 3:147,393,422...147,510,293 		JBrowse link
G ZIC4 Zic family member 4 ISS OMIM:220200 MouseDO NCBI chr 3:147,386,046...147,406,543
Ensembl chr 3:147,386,046...147,406,809 		JBrowse link
G ZNF423 zinc finger protein 423 ISS OMIM:220200 MouseDO NCBI chr16:49,487,524...49,859,279
Ensembl chr16:49,487,524...49,857,919 		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 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities ClinVar PMID:25741868 NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897 		JBrowse link
G PITX2 paired like homeodomain 2 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities ClinVar PMID:25741868 NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123 		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 IAGP ClinVar Annotator: match by term: Hydrolethalus syndrome ClinVar PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 More... NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646 		JBrowse link
G KIF7 kinesin family member 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21552264 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086 		JBrowse link
G PUS3 pseudouridine synthase 3 IAGP ClinVar Annotator: match by term: Hydrolethalus syndrome ClinVar PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 More... NCBI chr11:125,893,485...125,903,206
Ensembl chr11:125,893,485...125,903,221 		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 IAGP ClinVar Annotator: match by term: Hydrolethalus syndrome 1 OMIM
ClinVar		 PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 More... NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646 		JBrowse link
G KIF7 kinesin family member 7 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086 		JBrowse link
G PUS3 pseudouridine synthase 3 IAGP ClinVar Annotator: match by term: Hydrolethalus syndrome 1 ClinVar PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 More... NCBI chr11:125,893,485...125,903,206
Ensembl chr11:125,893,485...125,903,221 		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 IAGP ClinVar Annotator: match by term: Hydrolethalus syndrome 2 ClinVar
OMIM		 PMID:16199547 PMID:19666503 PMID:21552264 PMID:21633164 PMID:25741868 More... NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086 		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 IAGP ClinVar Annotator: match by term: Meckel syndrome type 7
ClinVar Annotator: match by term: Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia		 ClinVar
OMIM		 PMID:9536098 PMID:12872122 PMID:17576681 PMID:17855640 PMID:18371931 More... NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432 		JBrowse link
G NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Meckel syndrome type 7
ClinVar Annotator: match by term: Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia		 ClinVar PMID:9536098 PMID:12872122 PMID:17576681 PMID:17855640 PMID:18371931 More... NCBI chr 3:132,558,138...132,722,459
Ensembl chr 3:132,558,142...132,722,459 		JBrowse link
G NPHP3-AS1 NPHP3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Meckel syndrome type 7
ClinVar Annotator: match by term: Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia		 ClinVar PMID:17855640 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:132,721,750...132,874,211
Ensembl chr 3:132,721,750...132,874,223 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22729224 NCBI chr 1:243,488,233...243,851,079
Ensembl chr 1:243,488,233...243,851,079 		JBrowse link
G CCND2 cyclin D2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24705253 PMID:29642246 NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:22729224 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 EXP
IAGP		 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 chr19:18,153,163...18,170,532
Ensembl chr19:18,153,163...18,170,532 		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 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ClinVar
OMIM		 PMID:9536098 PMID:16357568 PMID:17576681 PMID:17675034 PMID:21984976 More... NCBI chr19:18,153,163...18,170,532
Ensembl chr19:18,153,163...18,170,532 		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 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:21800092 PMID:25424989 PMID:28492532 PMID:32827175 NCBI chr 1:244,408,494...244,452,060
Ensembl chr 1:244,408,494...244,451,909 		JBrowse link
G AKT3 AKT serine/threonine kinase 3 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:18813315 PMID:21800092 PMID:22500628 More... NCBI chr 1:243,488,233...243,851,079
Ensembl chr 1:243,488,233...243,851,079 		JBrowse link
G AKT3-IT1 AKT3 intronic transcript 1 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:243,793,205...243,794,400
Ensembl chr 1:243,793,205...243,794,400 		JBrowse link
G C1orf100 chromosome 1 open reading frame 100 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:21800092 PMID:25087610 PMID:25424989 PMID:28492532 PMID:32827175 NCBI chr 1:244,352,635...244,389,663
Ensembl chr 1:244,352,635...244,389,663 		JBrowse link
G CATSPERE catsper channel auxiliary subunit epsilon IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:21800092 PMID:25424989 PMID:28492532 PMID:32827175 NCBI chr 1:244,451,242...244,640,504
Ensembl chr 1:244,454,377...244,641,177 		JBrowse link
G CEP170 centrosomal protein 170 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:21800092 PMID:25087610 PMID:25424989 PMID:28492532 PMID:32827175 NCBI chr 1:243,124,428...243,255,785
Ensembl chr 1:243,124,428...243,255,348 		JBrowse link
G CHML CHM like Rab escort protein IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:28492532 NCBI chr 1:241,628,851...241,640,369
Ensembl chr 1:241,628,851...241,640,369 		JBrowse link
G COX20 cytochrome c oxidase assembly factor COX20 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:21800092 PMID:25424989 PMID:28492532 PMID:32827175 NCBI chr 1:244,835,306...244,845,063
Ensembl chr 1:244,835,616...244,845,057 		JBrowse link
G DESI2 desumoylating isopeptidase 2 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:21800092 PMID:25424989 PMID:28492532 PMID:32827175 NCBI chr 1:244,653,126...244,709,033
Ensembl chr 1:244,653,103...244,709,033 		JBrowse link
G EXO1 exonuclease 1 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:28492532 NCBI chr 1:241,847,986...241,889,939
Ensembl chr 1:241,847,967...241,895,148 		JBrowse link
G FH fumarate hydratase IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:28492532 NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799 		JBrowse link
G HNRNPU heterogeneous nuclear ribonucleoprotein U IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:21800092 PMID:25424989 PMID:28492532 PMID:32827175 NCBI chr 1:244,850,297...244,864,543
Ensembl chr 1:244,840,638...244,864,560 		JBrowse link
G KMO kynurenine 3-monooxygenase IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:28492532 NCBI chr 1:241,532,378...241,595,642
Ensembl chr 1:241,532,134...241,595,642 		JBrowse link
G LINC01347 long intergenic non-protein coding RNA 1347 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:243,056,314...243,101,744
Ensembl chr 1:243,056,307...243,101,744
Ensembl chr 1:243,056,307...243,101,744 		JBrowse link
G LINC02774 long intergenic non-protein coding RNA 2774 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:243,917,402...244,047,317
Ensembl chr 1:243,917,402...244,047,317 		JBrowse link
G LOC110120698 VISTA enhancer hs545 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:243,713,165...243,714,591 JBrowse link
G LOC111828504 Sharpr-MPRA regulatory regions 872 and 4511 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:244,341,427...244,341,981 JBrowse link
G LOC112577566 Sharpr-MPRA regulatory region 14056 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:243,939,247...243,939,541 JBrowse link
G LOC122152350 Sharpr-MPRA regulatory region 9224 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:242,788,007...242,788,301 JBrowse link
G LOC122152351 Sharpr-MPRA regulatory region 8354 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:243,316,367...243,316,661 JBrowse link
G LOC122152352 Sharpr-MPRA regulatory region 5448 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:243,476,007...243,476,301 JBrowse link
G LOC122152353 Sharpr-MPRA regulatory region 1428 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:243,622,007...243,622,301 JBrowse link
G LOC122152354 Sharpr-MPRA regulatory region 3339 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:244,067,867...244,068,161 JBrowse link
G MAP1LC3C microtubule associated protein 1 light chain 3 gamma IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:28492532 NCBI chr 1:241,995,490...242,001,393
Ensembl chr 1:241,995,490...241,999,098 		JBrowse link
G MIR4677 microRNA 4677 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:25087610 NCBI chr 1:243,346,176...243,346,255
Ensembl chr 1:243,346,176...243,346,255 		JBrowse link
G OPN3 opsin 3 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:28492532 NCBI chr 1:241,593,124...241,640,369
Ensembl chr 1:241,590,102...241,677,376
Ensembl chr 1:241,590,102...241,677,376 		JBrowse link
G PLD5 phospholipase D family member 5 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:21800092 PMID:25087610 PMID:25424989 PMID:28492532 PMID:32827175 NCBI chr 1:242,082,986...242,530,546
Ensembl chr 1:242,082,986...242,524,697 		JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:21800092 PMID:25087610 PMID:25424989 PMID:28492532 PMID:32827175 NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091 		JBrowse link
G WDR64 WD repeat domain 64 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:28492532 NCBI chr 1:241,652,281...241,802,777
Ensembl chr 1:241,652,278...241,802,777 		JBrowse link
G ZBTB18 zinc finger and BTB domain containing 18 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ClinVar PMID:21800092 PMID:25087610 PMID:25424989 PMID:28492532 PMID:32827175 NCBI chr 1:244,048,491...244,057,476
Ensembl chr 1:244,048,547...244,057,476 		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 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 ClinVar
OMIM		 PMID:17486076 PMID:24705253 PMID:25741868 PMID:26795593 PMID:28492532 More... NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353 		JBrowse link
G CCND2-AS1 CCND2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 ClinVar PMID:25741868 NCBI chr12:4,248,767...4,276,184
Ensembl chr12:4,247,981...4,276,252 		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 IAGP ClinVar Annotator: match by term: Normal pressure hydrocephalus OMIM
ClinVar		 PMID:25741868 PMID:29449551 PMID:31004071 NCBI chr10:104,129,888...104,232,364
Ensembl chr10:104,129,888...104,232,364 		JBrowse link
G PMPCA peptidase, mitochondrial processing subunit alpha IAGP ClinVar Annotator: match by term: Normal pressure hydrocephalus ClinVar PMID:10528257 PMID:25808372 NCBI chr 9:136,410,658...136,423,761
Ensembl chr 9:136,410,630...136,427,992 		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 chr15:71,822,291...72,118,600
Ensembl chr15:71,822,291...72,118,577 		JBrowse link
Posthemorrhagic Hydrocephalus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCAN brevican treatment IEP RGD PMID:22186713 RGD:6483013 NCBI chr 1:156,642,117...156,659,528
Ensembl chr 1:156,641,390...156,659,532 		JBrowse link
G L1CAM L1 cell adhesion molecule IEP protein:increased expression:cerebrospinal fluid (human) RGD PMID:22186713 RGD:6483013 NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,514...153,886,173 		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 IAGP ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 1 ClinVar
OMIM		 PMID:8874114 PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 More... NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432 		JBrowse link
G NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 1 ClinVar PMID:8874114 PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 More... NCBI chr 3:132,558,138...132,722,459
Ensembl chr 3:132,558,142...132,722,459 		JBrowse link
G NPHP3-AS1 NPHP3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 1 ClinVar PMID:17855640 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:132,721,750...132,874,211
Ensembl chr 3:132,721,750...132,874,223 		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 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:49,235,470...49,250,520
Ensembl chr  X:49,235,470...49,250,520 		JBrowse link
G WASHC5 WASH complex subunit 5 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819 		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 IAGP ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 ClinVar PMID:19377476 PMID:21826058 PMID:24916641 PMID:31971710 NCBI chr  X:49,235,470...49,250,520
Ensembl chr  X:49,235,470...49,250,520 		JBrowse link
G DPYSL5 dihydropyrimidinase like 5 IAGP ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 ClinVar PMID:3812597 PMID:31474318 PMID:33894126 NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351 		JBrowse link
G WASHC5 WASH complex subunit 5 IAGP ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 OMIM
ClinVar		 PMID:7604842 PMID:24065355 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819 		JBrowse link
G WASHC5-AS1 WASHC5 antisense RNA 1 IAGP ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:125,040,684...125,044,989
Ensembl chr 8:125,040,684...125,044,989 		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 IAGP ClinVar Annotator: match by term: Ritscher-schinzel syndrome 2
ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 2		 ClinVar
OMIM		 PMID:19377476 PMID:21826058 PMID:23563313 PMID:24916641 PMID:25644381 More... NCBI chr  X:49,235,470...49,250,520
Ensembl chr  X:49,235,470...49,250,520 		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 IAGP ClinVar Annotator: match by term: RITSCHER-SCHINZEL SYNDROME 3 OMIM
ClinVar		 PMID:31712251 NCBI chr16:19,555,703...19,701,163
Ensembl chr16:19,555,240...19,706,793 		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 IAGP ClinVar Annotator: match by term: RITSCHER-SCHINZEL SYNDROME 4 OMIM
ClinVar		 PMID:3812597 PMID:31474318 PMID:33894126 NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351 		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 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pettigrew syndrome		 CTD
ClinVar
OMIM		 PMID:2018058 PMID:5054319 PMID:10398241 PMID:12599187 PMID:17186471 More... NCBI chr  X:15,825,806...15,854,813
Ensembl chr  X:15,825,806...15,854,931 		JBrowse link
G CUL4B cullin 4B IAGP ClinVar Annotator: match by term: Pettigrew syndrome ClinVar PMID:25741868 NCBI chr  X:120,523,858...120,575,532
Ensembl chr  X:120,505,920...120,604,074 		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 IAGP ClinVar Annotator: match by term: Ventriculomegaly with cystic kidney disease
ClinVar Annotator: match by term: Ventriculomegaly-cystic kidney disease		 ClinVar
OMIM		 PMID:25557779 PMID:25557780 PMID:25741868 PMID:26925547 PMID:27004616 More... NCBI chr 9:123,354,065...123,380,326
Ensembl chr 9:123,356,170...123,380,324 		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
IAGP
EXP		 C57BL/6J background
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
DNA:snps:cds:multiple (human)		 ClinVar
OMIM
CTD
RGD		 PMID:7562969 PMID:7920659 PMID:7920660 PMID:8929944 PMID:10469653 More... RGD:6483078, RGD:14695001, RGD:6483012 NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,514...153,886,173 		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 IAGP ClinVar Annotator: match by term: Hydrocephalus, X-linked, with hirschsprung disease
ClinVar Annotator: match by term: Hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction		 ClinVar PMID:9279760 PMID:11857550 PMID:12650797 PMID:15148591 PMID:15368500 More... NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,514...153,886,173 		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 IAGP ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations ClinVar NCBI chr14:34,752,731...34,875,360
Ensembl chr14:34,752,731...34,875,647 		JBrowse link
G FANCB FA complementation group B EXP
IAGP		 CTD Direct Evidence: marker/mechanism
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 term: VACTERL-H		 CTD
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32546565 NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255 		JBrowse link
G FANCL FA complementation group L IAGP ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus ClinVar PMID:19405097 PMID:23613520 PMID:25754594 PMID:28492532 PMID:29625052 NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410 		JBrowse link
G PTEN phosphatase and tensin homolog EXP
IAGP		 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 chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G SALL1 spalt like transcription factor 1 IAGP ClinVar Annotator: match by term: VACTERL-H ClinVar PMID:25741868 NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334 		JBrowse link
G ZIC3 Zic family member 3 IAGP ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked
ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus		 ClinVar
OMIM		 PMID:2629409 PMID:14681828 PMID:17764085 PMID:23427188 PMID:24033266 More... NCBI chr  X:137,566,127...137,577,691
Ensembl chr  X:137,566,127...137,577,691 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 22380
    disease of anatomical entity 20917
      nervous system disease 16735
        central nervous system disease 14614
          brain disease 13723
            cerebral degeneration 502
              hydrocephalus 148
                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 + 33
                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 + 34
                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