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
Accession: DOID:10908
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 .
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:26467025 PMID:28492532 PMID:29225145 More...
NCBI chr14:91,271,323...91,417,820
Ensembl chr14:91,271,323...91,417,844
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:25741868 PMID:28492532 PMID:31474318 PMID:31680349 More...
NCBI chr X:153,861,514...153,886,173
Ensembl chr X:153,861,514...153,886,173
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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
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LOC100507346
uncharacterized LOC100507346
IAGP
ClinVar Annotator: match by term: Congenital hydrocephalus
ClinVar
PMID:29983323
NCBI chr 9:95,463,609...95,470,019
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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
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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
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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
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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
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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
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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
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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
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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 PMID:30941910 PMID:31004414 PMID:31474318 More...
NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
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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
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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
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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
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POMT1
protein O-mannosyltransferase 1
IAGP
ClinVar Annotator: match by term: Ventriculomegaly
ClinVar
PMID:12369018 PMID:16575835 PMID:17559086 PMID:18640039 PMID:18752264 PMID:19299310 PMID:22323514 PMID:23757202 PMID:24304607 PMID:24491487 PMID:25741868 PMID:28492532 PMID:32860008 More...
NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:28660352 PMID:31814248 More...
NCBI chr 2:229,763,837...229,923,186
Ensembl chr 2:229,763,837...229,923,239
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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
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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
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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
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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 PMID:30462379 More...
NCBI chr 4:118,722,823...118,836,126
Ensembl chr 4:118,722,823...118,838,683
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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
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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
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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 PMID:25741868 PMID:27308838 PMID:28492532 More...
NCBI chr 1:75,724,709...75,763,679
Ensembl chr 1:75,724,431...75,787,575
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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 PMID:28556411 PMID:29499638 PMID:32860008 More...
NCBI chr 9:13,105,707...13,279,692
Ensembl chr 9:13,105,706...13,279,692
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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 PMID:28556411 More...
NCBI chr17:1,716,523...1,738,585
Ensembl chr17:1,716,523...1,738,599
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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
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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
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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 PMID:16825433 PMID:17551924 PMID:18039235 PMID:18413255 PMID:19206169 PMID:23875798 PMID:24033266 PMID:24283439 PMID:25741868 PMID:31474318 More...
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:30941910 PMID:31004414 PMID:31474318 More...
NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
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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
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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 PMID:28211982 PMID:28492532 PMID:30348783 PMID:31474318 PMID:33491856 More...
NCBI chr 2:28,751,604...28,802,940
Ensembl chr 2:28,751,640...28,802,940
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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
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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
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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
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TUBA1A
tubulin alpha 1a
IAGP
ClinVar Annotator: match by term: Dandy-Walker syndrome
ClinVar
PMID:20466733 PMID:25741868 PMID:28492532 PMID:30744660 PMID:31474318 PMID:31628766 More...
NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,080
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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
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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
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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
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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
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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
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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
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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 PMID:28492532 More...
NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646
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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
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PUS3
pseudouridine synthase 3
IAGP
ClinVar Annotator: match by term: Hydrolethalus syndrome
ClinVar
PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 PMID:28492532 More...
NCBI chr11:125,893,485...125,903,206
Ensembl chr11:125,893,485...125,903,221
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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 PMID:28492532 More...
NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646
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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
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PUS3
pseudouridine synthase 3
IAGP
ClinVar Annotator: match by term: Hydrolethalus syndrome 1
ClinVar
PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 PMID:28492532 More...
NCBI chr11:125,893,485...125,903,206
Ensembl chr11:125,893,485...125,903,221
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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 PMID:26648833 PMID:28492532 More...
NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086
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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 PMID:19303681 PMID:20007846 PMID:23188109 PMID:23559409 PMID:24033266 PMID:24776604 PMID:25741868 PMID:26184788 PMID:26673778 PMID:27353947 PMID:27894351 PMID:28132693 PMID:28492532 PMID:28921755 PMID:28973083 PMID:30002499 PMID:31980526 PMID:32040628 PMID:32055034 PMID:32552793 PMID:33532864 More...
NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432
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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 PMID:19303681 PMID:20007846 PMID:23188109 PMID:23559409 PMID:24033266 PMID:24776604 PMID:25741868 PMID:26184788 PMID:26673778 PMID:27353947 PMID:27894351 PMID:28132693 PMID:28492532 PMID:28921755 PMID:28973083 PMID:30002499 PMID:31980526 PMID:32040628 PMID:32055034 PMID:32552793 PMID:33532864 More...
NCBI chr 3:132,558,138...132,722,459
Ensembl chr 3:132,558,142...132,722,459
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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
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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
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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
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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
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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 PMID:26520804 PMID:26860062 PMID:27854409 PMID:28086757 PMID:28492532 PMID:28502725 PMID:28566443 PMID:29051493 PMID:33818783 More...
NCBI chr19:18,153,163...18,170,532
Ensembl chr19:18,153,163...18,170,532
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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 PMID:22729224 PMID:23745724 PMID:24497998 PMID:25741868 PMID:26520804 PMID:26860062 PMID:27854409 PMID:28086757 PMID:28166811 PMID:28492532 PMID:28502725 PMID:28566443 PMID:29051493 PMID:33818783 PMID:34170046 More...
NCBI chr19:18,153,163...18,170,532
Ensembl chr19:18,153,163...18,170,532
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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
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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 PMID:22729223 PMID:22729224 PMID:23745724 PMID:25087610 PMID:25416470 PMID:25424989 PMID:25523067 PMID:25741868 PMID:28086757 PMID:28492532 PMID:28969385 PMID:29286531 PMID:31471318 PMID:32827175 PMID:33176815 PMID:34170046 More...
NCBI chr 1:243,488,233...243,851,079
Ensembl chr 1:243,488,233...243,851,079
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:33818783 More...
NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353
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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
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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
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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
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MYO9A
myosin IXA
ISS
MouseDO
NCBI chr15:71,822,291...72,118,600
Ensembl chr15:71,822,291...72,118,577
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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
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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
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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 PMID:17855640 PMID:18076122 PMID:18371931 PMID:19177160 PMID:19303681 PMID:20007846 PMID:21866095 PMID:23188109 PMID:23559409 PMID:24033266 PMID:25741868 PMID:26184788 PMID:26673778 PMID:27353947 PMID:27894351 PMID:28132693 PMID:28492532 PMID:28921755 PMID:28973083 PMID:28991257 PMID:30002499 PMID:31980526 PMID:32040628 PMID:32055034 PMID:32173348 PMID:32552793 PMID:33323469 PMID:33532864 PMID:34031707 More...
NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432
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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 PMID:17855640 PMID:18076122 PMID:18371931 PMID:19177160 PMID:19303681 PMID:20007846 PMID:21866095 PMID:23188109 PMID:23559409 PMID:24033266 PMID:25741868 PMID:26184788 PMID:26673778 PMID:27353947 PMID:27894351 PMID:28132693 PMID:28492532 PMID:28921755 PMID:28973083 PMID:28991257 PMID:30002499 PMID:31980526 PMID:32040628 PMID:32055034 PMID:32173348 PMID:32552793 PMID:33323469 PMID:33532864 PMID:34031707 More...
NCBI chr 3:132,558,138...132,722,459
Ensembl chr 3:132,558,142...132,722,459
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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
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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
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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
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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
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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
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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 PMID:31971710 More...
NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819
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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
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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 PMID:25741868 PMID:28492532 PMID:31971710 More...
NCBI chr X:49,235,470...49,250,520
Ensembl chr X:49,235,470...49,250,520
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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
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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
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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 PMID:17617514 PMID:18414213 PMID:18428203 PMID:23756445 PMID:25741868 PMID:33847015 More...
NCBI chr X:15,825,806...15,854,813
Ensembl chr X:15,825,806...15,854,931
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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
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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 PMID:27942854 PMID:28492532 PMID:30212996 PMID:30996265 PMID:32581362 More...
NCBI chr 9:123,354,065...123,380,326
Ensembl chr 9:123,356,170...123,380,324
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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 PMID:10767310 PMID:11772994 PMID:16650080 PMID:18414213 PMID:25741868 PMID:28492532 PMID:31474318 PMID:31504653 PMID:32416898 PMID:19565280 PMID:30738385 PMID:7920659 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
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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 PMID:28492532 More...
NCBI chr X:153,861,514...153,886,173
Ensembl chr X:153,861,514...153,886,173
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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
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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
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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
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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 PMID:21828076 PMID:22628360 PMID:24778394 PMID:25157968 PMID:25669429 PMID:25741868 PMID:28475857 PMID:28492532 PMID:28526761 PMID:29706350 PMID:29874181 More...
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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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
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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 PMID:24123890 PMID:25741868 PMID:26294094 PMID:28492532 More...
NCBI chr X:137,566,127...137,577,691
Ensembl chr X:137,566,127...137,577,691
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
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