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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:visual cortex disease
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Accession:DOID:5691 term browser browse the term
Synonyms:exact_synonym: visual cortex dysfunction
 xref: ICD10CM:H47.6;   ICD9CM:377.7;   NCI:C35275
For additional species annotation, visit the Alliance of Genome Resources.



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autosomal dominant intellectual developmental disorder 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apold1 apolipoprotein L domain containing 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 4:167,768,437...167,825,706
Ensembl chr 4:167,818,271...167,825,706
JBrowse link
G Arhgdib Rho GDP dissociation inhibitor beta ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,822,951...169,841,884
Ensembl chr 4:169,822,952...169,841,658
JBrowse link
G Art4 ADP-ribosyltransferase 4 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,740,331...169,751,571
Ensembl chr 4:169,740,331...169,750,665
JBrowse link
G Atf7ip activating transcription factor 7 interacting protein ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,385,872...169,471,652
Ensembl chr 4:169,385,872...169,471,650
JBrowse link
G Bcl2l14 Bcl2-like 14 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:167,217,561...167,258,723
Ensembl chr 4:167,219,871...167,258,086
JBrowse link
G Borcs5 BLOC-1 related complex subunit 5 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:167,458,640...167,543,556
Ensembl chr 4:167,473,177...167,540,993
JBrowse link
G C4h12orf60 similar to human chromosome 12 open reading frame 60 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,716,821...169,731,532
Ensembl chr 4:169,716,030...169,734,237
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
JBrowse link
G Crebl2 cAMP responsive element binding protein-like 2 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:167,673,359...167,699,299
Ensembl chr 4:167,673,315...167,699,292
JBrowse link
G Ddx47 DEAD-box helicase 47 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 4:167,845,652...167,858,115
Ensembl chr 4:167,845,640...167,859,115
JBrowse link
G Dusp16 dual specificity phosphatase 16 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:167,546,780...167,630,173
Ensembl chr 4:167,548,155...167,629,980
JBrowse link
G Emp1 epithelial membrane protein 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 4:168,212,901...168,233,039
Ensembl chr 4:168,212,861...168,232,904
JBrowse link
G Eps8 EGFR pathway substrate 8, signaling adaptor ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:170,388,378...170,486,873
Ensembl chr 4:170,388,378...170,486,873
JBrowse link
G Erp27 endoplasmic reticulum protein 27 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,804,656...169,821,660
Ensembl chr 4:169,804,658...169,821,660
JBrowse link
G Etv6 ETS variant transcription factor 6 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992
JBrowse link
G Fam234b family with sequence similarity 234, member B ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 4:168,048,313...168,124,017
Ensembl chr 4:168,048,396...168,097,338
JBrowse link
G Gpr19 G protein-coupled receptor 19 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:167,710,944...167,739,232
Ensembl chr 4:167,710,666...167,741,036
JBrowse link
G Gprc5a G protein-coupled receptor, class C, group 5, member A ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 4:167,903,542...167,922,276
Ensembl chr 4:167,903,542...167,922,260
JBrowse link
G Gprc5d G protein-coupled receptor, class C, group 5, member D ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 4:167,943,523...167,955,616
Ensembl chr 4:167,943,523...167,955,616
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: GRIN2B-related disorder | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:16537520 PMID:17576681 PMID:18414213 More... NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
JBrowse link
G Gsg1 germ cell associated 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 4:168,090,773...168,107,039
Ensembl chr 4:168,090,776...168,107,039
JBrowse link
G Gucy2c guanylate cyclase 2C ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,568,505...169,649,092
Ensembl chr 4:169,568,529...169,649,092
JBrowse link
G H2aj H2A.J histone ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,675,718...169,676,202
Ensembl chr 4:169,675,752...169,677,006
JBrowse link
G Hebp1 heme binding protein 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 4:167,974,316...168,003,854
Ensembl chr 4:167,974,319...168,003,854
JBrowse link
G Lrp6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:167,269,856...167,400,364
Ensembl chr 4:167,270,353...167,400,497
JBrowse link
G Mansc1 MANSC domain containing 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:167,438,817...167,459,047
Ensembl chr 4:167,439,071...167,479,606
JBrowse link
G Mgp matrix Gla protein ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,766,290...169,769,612
Ensembl chr 4:169,766,279...169,769,667
JBrowse link
G Pde6h phosphodiesterase 6H ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,857,793...169,872,969
Ensembl chr 4:169,857,812...169,872,969
JBrowse link
G Plbd1 phospholipase B domain containing 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,472,983...169,529,277
Ensembl chr 4:169,472,983...169,529,277
JBrowse link
G Ptpro protein tyrosine phosphatase, receptor type, O ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:170,164,071...170,374,790
Ensembl chr 4:170,164,431...170,374,771
JBrowse link
G Rerg RAS-like, estrogen-regulated, growth-inhibitor ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,981,634...170,089,777
Ensembl chr 4:169,982,279...170,089,715
JBrowse link
G Smco3 single-pass membrane protein with coiled-coil domains 3 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,719,962...169,728,849
Ensembl chr 4:169,719,949...169,728,133
JBrowse link
G Wbp11 WW domain binding protein 11 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,680,984...169,694,431
Ensembl chr 4:169,680,983...169,694,443
JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CST telomere replication complex component 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coats plus syndrome
CTD
ClinVar
PMID:22267198 PMID:22387016 PMID:23220793 PMID:23869908 PMID:24033266 More... NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
JBrowse link
G Stn1 STN1 subunit of CST complex ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531
JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:16943371 PMID:17576681 PMID:18076099 More... NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 ClinVar PMID:22267198 PMID:22387016 PMID:24115768 PMID:25741868 PMID:28492532 More... NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420
JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stn1 STN1 subunit of CST complex ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 | ClinVar Annotator: match by term: STN1-related condition OMIM
ClinVar
PMID:25741868 PMID:27432940 PMID:28492532 NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531
JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pot1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3 ClinVar
OMIM
PMID:27013236 PMID:28492532 NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042
JBrowse link
chromosome 15q13.3 microdeletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome
CTD
ClinVar
PMID:25741868 PMID:31690835 NCBI chr 1:116,711,559...116,837,269
Ensembl chr 1:116,714,711...116,837,240
JBrowse link
G Fan1 FANCD2 and FANCI associated nuclease 1 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 1:117,915,323...117,945,044
Ensembl chr 1:117,917,099...117,944,977
JBrowse link
G Klf13 KLF transcription factor 13 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome
CTD
ClinVar
PMID:31690835 NCBI chr 1:117,505,857...117,536,626
Ensembl chr 1:117,503,602...117,551,227
JBrowse link
G Mir211 microRNA 211 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 1:117,777,539...117,777,644
Ensembl chr 1:117,777,539...117,777,644
JBrowse link
G Mtmr10 myotubularin related protein 10 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 1:117,859,355...117,910,839
Ensembl chr 1:117,859,267...117,910,849
JBrowse link
G Otud7a OTU deubiquitinase 7A ISS
ISO
OMIM:612001
ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome
MouseDO
ClinVar
PMID:31690835 NCBI chr 1:117,064,428...117,388,217
Ensembl chr 1:117,064,496...117,386,480
JBrowse link
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 1:117,718,896...117,835,434
Ensembl chr 1:117,718,896...117,834,605
JBrowse link
craniosynostosis 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msx2 msh homeobox 2 ISO ClinVar Annotator: match by term: Craniosynostosis 2 | ClinVar Annotator: match by term: Warman-Mulliken-Hayward syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7597092 PMID:8106171 PMID:8357019 PMID:8968743 PMID:9256341 More... NCBI chr17:11,097,214...11,102,879
Ensembl chr17:11,097,103...11,102,879
JBrowse link
Dyskinesias, Seizures, and Intellectual Developmental Disorder term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Deaf1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: DEAF1-related disorder | ClinVar Annotator: match by term: Dyskinesia, seizures, and intellectual developmental disorder OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:24668509 PMID:24726472 PMID:25741868 More... NCBI chr 1:196,401,857...196,435,541
Ensembl chr 1:196,401,857...196,435,541
JBrowse link
EAST syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
JBrowse link
G Igsf8 immunoglobulin superfamily, member 8 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr13:84,770,348...84,781,534
Ensembl chr13:84,770,279...84,778,576
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO
ISS
ClinVar Annotator: match by term: EAST syndrome | ClinVar Annotator: match by term: Epilepsy, ataxia, sensorineural deafness and tubulopathy | ClinVar Annotator: match by term: SeSAME-like syndrome | ClinVar Annotator: match by term: Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome
OMIM:612780
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:c.194G>C (p.R65P), c.229G>C (p.G77R) (human)
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:19289823 PMID:19420365 PMID:19426954 PMID:20651251 PMID:20678478 More... RGD:8662866 NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461
JBrowse link
G Kcnj9 potassium inwardly-rectifying channel, subfamily J, member 9 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr13:84,780,826...84,787,928
Ensembl chr13:84,779,741...84,787,928
JBrowse link
Familial Infantile Convulsions and Paroxysmal Choreoathetosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mvp major vault protein ISO ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial ClinVar PMID:25741868 NCBI chr 1:181,594,734...181,622,336
Ensembl chr 1:181,594,734...181,622,380
JBrowse link
G Prrt2 proline-rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial | ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11179027 PMID:11346027 PMID:16199547 PMID:18414213 PMID:20301633 More... NCBI chr 1:181,625,243...181,628,833
Ensembl chr 1:181,604,545...181,628,850
JBrowse link
hypermethioninemia due to adenosine kinase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adk adenosine kinase ISO ClinVar Annotator: match by term: ADK-related condition | ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8 OMIM
ClinVar
PMID:21963049 PMID:25741868 PMID:26642971 PMID:26975589 PMID:28492532 NCBI chr15:2,863,241...3,246,453
Ensembl chr15:2,863,244...3,246,510
JBrowse link
hypoparathyroidism-retardation-dysmorphism syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay | ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469
JBrowse link
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay | ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:12389028 PMID:12389029 PMID:16199547 PMID:16938882 More... NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
JBrowse link
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eefsec eukaryotic elongation factor, selenocysteine-tRNA-specific ISO ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ClinVar PMID:25741868 NCBI chr 4:120,719,616...120,915,779
Ensembl chr 4:120,707,133...120,915,779
JBrowse link
G Med17 mediator complex subunit 17 ISO ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | ClinVar Annotator: match by term: MED17-related condition | ClinVar Annotator: match by term: Microcephaly, postnatal progressive, with seizures and brain atrophy OMIM
ClinVar
PMID:18414213 PMID:20950787 PMID:25741868 PMID:26004231 PMID:26240385 More... NCBI chr 8:12,101,594...12,120,592
Ensembl chr 8:12,101,594...12,120,592
JBrowse link
microcephaly, seizures, and developmental delay term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nusap1 nucleolar and spindle associated protein 1 ISO ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay ClinVar PMID:25741868 NCBI chr 3:106,603,273...106,633,428
Ensembl chr 3:106,603,289...106,633,624
JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 10 | ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay OMIM
ClinVar
PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:16199547 More... NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920
JBrowse link
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rttn rotatin ISO ClinVar Annotator: match by term: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES | ClinVar Annotator: match by term: Microcephaly, short stature, and polymicrogyria with or without seizures | ClinVar Annotator: match by term: RTTN-related condition OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22939636 More... NCBI chr18:82,220,999...82,398,334
Ensembl chr18:82,221,050...82,398,333
JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pign phosphatidylinositol glycan anchor biosynthesis, class N ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome ClinVar PMID:16199547 PMID:24033266 PMID:24253414 PMID:25741868 PMID:26364997 More... NCBI chr13:21,659,092...21,812,932
Ensembl chr13:21,662,455...21,806,790
JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2 BCL2, apoptosis regulator ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743
JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:22,862,117...22,894,118
Ensembl chr13:22,862,117...22,894,108
JBrowse link
G Phlpp1 PH domain and leucine rich repeat protein phosphatase 1 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:22,308,532...22,530,978
Ensembl chr13:22,308,548...22,530,977
JBrowse link
G Pign phosphatidylinositol glycan anchor biosynthesis, class N ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 OMIM
ClinVar
PMID:351792 PMID:9536098 PMID:10677500 PMID:16199547 PMID:17576681 More... NCBI chr13:21,659,092...21,812,932
Ensembl chr13:21,662,455...21,806,790
JBrowse link
G Relch RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:21,806,972...21,902,807
Ensembl chr13:21,806,972...21,902,807
JBrowse link
G Serpinb10 serpin family B member 10 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,553,348...23,571,182
Ensembl chr13:23,553,430...23,571,182
JBrowse link
G Serpinb11 serpin family B member 11 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,304,775...23,344,604
Ensembl chr13:23,304,456...23,344,604
JBrowse link
G Serpinb12 serpin family B member 12 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,052,384...23,083,691
Ensembl chr13:23,052,448...23,083,691
JBrowse link
G Serpinb13 serpin family B member 13 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,118,582...23,150,352
Ensembl chr13:23,118,584...23,150,760
JBrowse link
G Serpinb2 serpin family B member 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,537,312...23,551,823
Ensembl chr13:23,541,400...23,550,408
JBrowse link
G Serpinb3 serpin family B member 3 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,274,120...23,280,660
Ensembl chr13:23,274,484...23,313,682
JBrowse link
G Serpinb3a serpin family B member 3A ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,241,303...23,246,328
Ensembl chr13:23,236,972...23,246,985
JBrowse link
G Serpinb5 serpin family B member 5 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:22,985,557...23,005,756
Ensembl chr13:22,985,557...23,005,756
JBrowse link
G Serpinb7 serpin family B member 7 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,369,830...23,442,205
Ensembl chr13:23,395,671...23,442,205
JBrowse link
G Serpinb8 serpin family B member 8 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:23,626,936...23,650,277
Ensembl chr13:23,626,945...23,650,835
JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11A ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695
JBrowse link
G Vps4b vacuolar protein sorting 4 homolog B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:22,907,105...22,932,200
Ensembl chr13:22,907,109...22,932,229
JBrowse link
G Zcchc2 zinc finger CCHC-type containing 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 ClinVar PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 More... NCBI chr13:22,118,677...22,193,626
Ensembl chr13:22,119,568...22,166,373
JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace2 angiotensin converting enzyme 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:30,293,597...30,340,961
Ensembl chr  X:30,293,589...30,340,977
JBrowse link
G Ap1s2 adaptor related protein complex 1 subunit sigma 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:30,572,746...30,598,961
Ensembl chr  X:30,572,751...30,597,262
JBrowse link
G Asb11 ankyrin repeat and SOCS box containing 11 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:30,014,485...30,037,808
Ensembl chr  X:29,992,416...30,037,807
JBrowse link
G Asb9 ankyrin repeat and SOCS box-containing 9 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:29,956,576...30,001,436
Ensembl chr  X:29,956,576...30,001,105
JBrowse link
G Bmx BMX non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:30,227,251...30,290,015
Ensembl chr  X:30,227,251...30,289,993
JBrowse link
G Car5b carbonic anhydrase 5B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:30,474,697...30,534,797
Ensembl chr  X:30,474,784...30,533,837
JBrowse link
G Cltrn collectrin, amino acid transport regulator ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:30,361,967...30,395,264
Ensembl chr  X:30,361,967...30,395,349
JBrowse link
G Fancb FA complementation group B ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:29,403,771...29,420,484
Ensembl chr  X:29,403,771...29,420,192
JBrowse link
G Mospd2 motile sperm domain containing 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:29,420,485...29,472,099
Ensembl chr  X:29,420,586...29,462,398
JBrowse link
G Piga phosphatidylinositol glycan anchor biosynthesis, class A ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 4 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 OMIM
ClinVar
PMID:2915993 PMID:8541557 PMID:8599356 PMID:8652378 PMID:9307258 More... NCBI chr  X:30,043,033...30,055,861
Ensembl chr  X:30,042,343...30,055,804
JBrowse link
G Pir pirin ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:30,108,536...30,219,269
Ensembl chr  X:30,108,538...30,219,218
JBrowse link
G Vegfd vascular endothelial growth factor D ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:30,073,122...30,108,413
Ensembl chr  X:30,074,163...30,108,295
JBrowse link
G Zrsr2 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:30,547,424...30,571,613
Ensembl chr  X:30,547,536...30,570,125
JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 7 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 3 | ClinVar Annotator: match by term: PIGT-related disorder OMIM
ClinVar
PMID:9536098 PMID:9934988 PMID:16199547 PMID:17576681 PMID:23636107 More... NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887
JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigq phosphatidylinositol glycan anchor biosynthesis, class Q ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 77 | ClinVar Annotator: match by term: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 | ClinVar Annotator: match by term: PIGQ-related condition OMIM
ClinVar
PMID:16199547 PMID:24463883 PMID:25558065 PMID:25741868 PMID:28492532 More... NCBI chr10:14,942,571...14,958,584
Ensembl chr10:14,942,577...14,958,584
JBrowse link
myoclonic-atonic epilepsy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arpc4 actin related protein 2/3 complex, subunit 4 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,522,255...146,532,784
Ensembl chr 4:146,522,176...146,532,785
JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
JBrowse link
G Atp2b2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,894,602...147,208,060
Ensembl chr 4:146,896,332...147,140,665
JBrowse link
G Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,750,821...146,766,050
Ensembl chr 4:146,750,821...146,768,856
JBrowse link
G Brpf1 bromodomain and PHD finger containing, 1 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,456,325...146,472,781
Ensembl chr 4:146,456,318...146,472,649
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25735478 PMID:25741868 PMID:28492532 PMID:28566750 PMID:30142438 More... NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
JBrowse link
G Camk1 calcium/calmodulin-dependent protein kinase I ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,481,196...146,492,039
Ensembl chr 4:146,481,196...146,492,081
JBrowse link
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:14,753,594...14,772,745
Ensembl chr  X:14,753,696...14,772,743
JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset ClinVar PMID:23708187 PMID:24207121 PMID:25741868 PMID:25783594 PMID:28492532 More... NCBI chr 1:127,188,146...127,317,041
Ensembl chr 1:127,190,059...127,300,502
JBrowse link
G Cidec cell death-inducing DFFA-like effector c ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,569,288...146,582,173
Ensembl chr 4:146,569,289...146,582,173
JBrowse link
G Cpne9 copine family member 9 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,429,961...146,454,335
Ensembl chr 4:146,430,792...146,454,333
JBrowse link
G Creld1 cysteine-rich with EGF-like domains 1 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,631,883...146,641,493
Ensembl chr 4:146,631,883...146,641,499
JBrowse link
G Dnm1 dynamin 1 ISO RGD PMID:27363778 RGD:11557016 NCBI chr 3:15,604,782...15,648,654
Ensembl chr 3:15,604,784...15,648,538
JBrowse link
G Emc3 ER membrane protein complex subunit 3 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,663,065...146,678,976
Ensembl chr 4:146,663,067...146,679,029
JBrowse link
G Fancd2 FA complementation group D2 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412
JBrowse link
G Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569
JBrowse link
G Fgf12 fibroblast growth factor 12 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:25741868 PMID:27164707 PMID:27830185 PMID:27872899 PMID:28492532 More... NCBI chr11:71,997,151...72,564,757
Ensembl chr11:71,997,099...72,562,607
JBrowse link
G Fmr1 fragile X messenger ribonucleoprotein 1 IEP protein:decreased expression:hippocampus, cytosol (rat) RGD PMID:23831253 RGD:11667971 NCBI chr  X:147,240,239...147,278,057
Ensembl chr  X:147,240,301...147,278,050
JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621
JBrowse link
G Il17rc interleukin 17 receptor C ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,618,321...146,631,444
Ensembl chr 4:146,619,004...146,631,442
JBrowse link
G Il17re interleukin 17 receptor E ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,604,547...146,618,206
Ensembl chr 4:146,605,526...146,618,206
JBrowse link
G Iqsec2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr  X:21,254,799...21,337,179
Ensembl chr  X:21,254,914...21,336,584
JBrowse link
G Irak2 interleukin-1 receptor-associated kinase 2 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,786,004...146,842,615
Ensembl chr 4:146,786,100...146,842,602
JBrowse link
G Jagn1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,591,577...146,596,287
Ensembl chr 4:146,591,510...146,596,288
JBrowse link
G Limk1 LIM domain kinase 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar NCBI chr12:22,026,697...22,060,605
Ensembl chr12:22,026,672...22,060,606
JBrowse link
G Mtmr14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,386,949...146,429,990
Ensembl chr 4:146,386,956...146,429,990
JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
JBrowse link
G Pik3ap1 phosphoinositide-3-kinase adaptor protein 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:240,090,854...240,245,007
Ensembl chr 1:240,093,065...240,204,828
JBrowse link
G Praf2 PRA1 domain family, member 2 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:14,773,398...14,776,035
Ensembl chr  X:14,773,420...14,775,909
JBrowse link
G Prrt3 proline-rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,641,173...146,650,487
Ensembl chr 4:146,641,173...146,650,317
JBrowse link
G Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:32004447 NCBI chr 6:72,977,432...73,252,378
Ensembl chr 6:72,977,432...73,252,378
JBrowse link
G Rbfox1 RNA binding fox-1 homolog 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr10:8,152,198...10,248,120
Ensembl chr10:8,152,198...9,686,659
JBrowse link
G Rpusd3 RNA pseudouridine synthase D3 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,553,743...146,562,789
Ensembl chr 4:146,558,562...146,562,794
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:18930999 PMID:19563458 PMID:20452746 PMID:22848613 PMID:25741868 More... NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:19710327 PMID:25741868 PMID:28218389 PMID:28492532 PMID:37845033 NCBI chr 1:86,353,917...86,363,820
Ensembl chr 1:86,353,917...86,363,739
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood ClinVar PMID:25741868 NCBI chr 3:70,710,862...70,845,569
Ensembl chr 3:50,302,877...50,437,214
JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292
JBrowse link
G Sec13 SEC13 homolog, nuclear pore and COPII coat complex component ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,877,739...146,891,130
Ensembl chr 4:146,875,524...146,891,173
JBrowse link
G Slc13a5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:24033266 PMID:24995870 PMID:25741868 PMID:26384929 PMID:27261973 More... NCBI chr10:56,866,249...56,891,189
Ensembl chr10:56,866,249...56,890,945
JBrowse link
G Slc6a1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder
ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder
OMIM
ClinVar
PMID:9536098 PMID:14744863 PMID:15496410 PMID:16199547 PMID:17576681 More... NCBI chr 4:147,448,961...147,482,295
Ensembl chr 4:147,466,965...147,482,293
JBrowse link
G Slc6a11 solute carrier family 6 member 11 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:147,297,972...147,413,319
Ensembl chr 4:147,297,969...147,413,443
JBrowse link
G Srgap2 SLIT-ROBO Rho GTPase activating protein 2 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr13:42,745,956...42,967,091
Ensembl chr13:42,745,947...42,967,058
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:18414213 PMID:20887364 PMID:22612257 PMID:24781210 PMID:25356970 More... NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
JBrowse link
G Tada3 transcriptional adaptor 3 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,510,213...146,521,975
Ensembl chr 4:146,510,246...146,521,590
JBrowse link
G Tatdn2 TatD DNase domain containing 2 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,845,156...146,865,708
Ensembl chr 4:146,845,156...146,860,897
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO DNA:misense, nonsense mutations:cds:c.468C>A (C156X), c.686T>C(F229S)(human) RGD PMID:23526554 RGD:11537471 NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
JBrowse link
G Ttll3 tubulin tyrosine ligase like 3 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,532,958...146,558,425
Ensembl chr 4:146,533,953...146,557,889
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:14,776,280...14,782,202
Ensembl chr  X:14,776,293...14,782,202
JBrowse link
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adarb1 adenosine deaminase, RNA-specific, B1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures OMIM
ClinVar
PMID:25741868 PMID:32220291 PMID:32719099 NCBI chr20:11,222,569...11,350,854
Ensembl chr20:11,222,583...11,350,852
JBrowse link
G Cpsf3 cleavage and polyadenylation specific factor 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures ClinVar PMID:35121750 NCBI chr 6:40,836,121...40,864,129
Ensembl chr 6:40,836,097...40,864,128
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd44 ankyrin repeat domain 44 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language ClinVar PMID:25741868 NCBI chr 9:56,126,746...56,427,661
Ensembl chr 9:56,126,747...56,427,508
JBrowse link
G Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: HECW2-related disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language OMIM
ClinVar
PMID:23545411 PMID:25741868 PMID:27389779 PMID:28492532 PMID:29395664 More... NCBI chr 9:55,359,462...55,753,106
Ensembl chr 9:55,365,203...55,580,327
JBrowse link
G Ntng2 netrin G2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language ClinVar PMID:25741868 PMID:31668703 NCBI chr 3:12,492,574...12,551,104
Ensembl chr 3:12,492,639...12,545,890
JBrowse link
Occipital Cortical Malformations term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamc3 laminin subunit gamma 3 ISO ClinVar Annotator: match by term: Cortical malformations, occipital | ClinVar Annotator: match by term: LAMC3-related condition OMIM
ClinVar
PMID:16199547 PMID:18414213 PMID:21572413 PMID:23160955 PMID:25326635 More... NCBI chr 3:15,165,220...15,226,697
Ensembl chr 3:15,165,220...15,226,697
JBrowse link
optic atrophy 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rtn4ip1 reticulon 4 interacting protein 1 ISO ClinVar Annotator: match by term: OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES | ClinVar Annotator: match by term: Optic atrophy 10 with or without ataxia, mental retardation, and seizures | ClinVar Annotator: match by term: RTN4IP1-related condition OMIM
ClinVar
PMID:25741868 PMID:26593267 PMID:28492532 PMID:28638143 PMID:29181510 More... NCBI chr20:47,382,251...47,422,747
Ensembl chr20:47,382,234...47,422,338
JBrowse link
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csmd3 CUB and Sushi multiple domains 3 ISO ClinVar Annotator: match by term: Kuzniecky syndrome ClinVar PMID:25741868 NCBI chr 7:78,747,322...80,066,466
Ensembl chr 7:78,748,480...80,066,369
JBrowse link
Partington syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arx aristaless related homeobox ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Partington syndrome | ClinVar Annotator: match by term: X-linked spasticity-intellectual disability-epilepsy syndrome
DNA:duplication:exon:c.428-451dup (human)
OMIM
CTD
ClinVar
RGD
PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 More... RGD:11565843 NCBI chr  X:58,016,233...58,028,149
Ensembl chr  X:58,016,233...58,028,142
JBrowse link
PHGDH deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam30 ADAM metallopeptidase domain 30 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr 2:185,752,183...185,755,623
Ensembl chr 2:185,752,072...185,755,599
JBrowse link
G Hao2 hydroxyacid oxidase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 2:186,200,137...186,232,997
Ensembl chr 2:186,200,504...186,224,425
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130
JBrowse link
G Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 2:186,169,864...186,175,984
Ensembl chr 2:186,169,863...186,175,999
JBrowse link
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 2:188,784,614...188,812,535
Ensembl chr 2:186,095,897...186,101,852
JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: PHGDH deficiency | ClinVar Annotator: match by term: Phosphoglycerate dehydrogenase deficiency
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 More... NCBI chr 2:185,906,962...185,936,054
Ensembl chr 2:185,906,966...185,935,944
JBrowse link
G Reg4 regenerating family member 4 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr 2:185,818,946...185,833,252
Ensembl chr 2:185,821,210...185,833,353
JBrowse link
G Tbx15 T-box transcription factor 15 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 2:186,576,650...186,687,748
Ensembl chr 2:186,576,676...186,687,663
JBrowse link
G Wars2 tryptophanyl tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 2:186,459,744...186,543,581
Ensembl chr 2:186,459,444...186,543,571
JBrowse link
G Zfp697 zinc finger protein 697 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 2:185,970,562...186,003,884
Ensembl chr 2:185,970,576...186,001,041
JBrowse link
Primary Aldosteronism, Seizures, and Neurologic Abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1d calcium voltage-gated channel subunit alpha1 D ISO ClinVar Annotator: match by term: CACNA1D-related disorder | ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:23913001 PMID:24033266 PMID:25741868 More... NCBI chr16:5,227,157...5,521,163
Ensembl chr16:5,228,306...5,668,215
JBrowse link
PSAT deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psat1 phosphoserine aminotransferase 1 ISO ClinVar Annotator: match by term: PSAT deficiency
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:17436247 PMID:17576681 PMID:25152457 PMID:25741868 More... NCBI chr 1:213,196,709...213,218,564
Ensembl chr 1:213,196,709...213,218,682
JBrowse link
Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brat1 BRCA1-associated ATM activator 1 ISO ClinVar Annotator: match by term: Rigidity and multifocal seizure syndrome, lethal neonatal OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:16452482 PMID:17576681 PMID:22279524 More... NCBI chr12:13,928,889...13,951,760
Ensembl chr12:13,928,898...13,941,248
JBrowse link
G Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Rigidity and multifocal seizure syndrome, lethal neonatal ClinVar PMID:22279524 PMID:25500575 PMID:28492532 NCBI chr12:14,030,551...14,038,996
Ensembl chr12:14,018,333...14,039,008
JBrowse link
G Pagr1 Paxip1-associated glutamate-rich protein 1 ISO ClinVar Annotator: match by term: lethal neurodevelopmental disorder ClinVar PMID:25741868 PMID:34585832 NCBI chr 1:181,622,698...181,625,024 JBrowse link
Seizures, Cortical Blindness, and Microcephaly Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Diaph1 diaphanous-related formin 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome OMIM
ClinVar
PMID:9360932 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22938506 More... NCBI chr18:29,669,659...29,769,070
Ensembl chr18:29,669,659...29,769,172
JBrowse link
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prmt7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: PRMT7-related condition | ClinVar Annotator: match by term: Short stature, brachydactyly, intellectual developmental disability, and seizures OMIM
ClinVar
PMID:2643702 PMID:16199547 PMID:25741868 PMID:26437029 PMID:27718516 More... NCBI chr19:34,110,724...34,161,531
Ensembl chr19:34,110,747...34,162,577
JBrowse link
Smith-Kingsmore Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: MTOR-related condition | ClinVar Annotator: match by term: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | ClinVar Annotator: match by term: Neurodevelopmental disorder, MTOR related | ClinVar Annotator: match by term: Overgrowth syndrome | ClinVar Annotator: match by term: Smith-Kingsmore syndrome OMIM
ClinVar
PMID:21210909 PMID:22729223 PMID:23322780 PMID:23636326 PMID:24625776 More... NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: Overgrowth syndrome ClinVar PMID:25741868 NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
JBrowse link
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: Overgrowth syndrome ClinVar PMID:25741868 NCBI chr16:18,665,517...18,674,067
Ensembl chr16:18,665,457...18,674,065
JBrowse link
syndromic X-linked intellectual disability 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1s2 adaptor related protein complex 1 subunit sigma 2 ISO
ISS
ClinVar Annotator: match by term: AP1S2-related condition | ClinVar Annotator: match by term: Pettigrew syndrome
OMIM:304340
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:2018058 PMID:5054319 PMID:10398241 PMID:12599187 PMID:17186471 More... NCBI chr  X:30,572,746...30,598,961
Ensembl chr  X:30,572,751...30,597,262
JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: Pettigrew syndrome ClinVar PMID:25741868 NCBI chr  X:117,287,481...117,326,688
Ensembl chr  X:117,287,484...117,326,688
JBrowse link
visual epilepsy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:9536098 PMID:16159904 PMID:16491085 PMID:17068770 PMID:17088338 More... NCBI chr18:50,003,242...50,042,193
Ensembl chr18:50,009,934...50,042,193
JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:10563623 PMID:10643924 PMID:11904236 PMID:12887446 PMID:14623738 More... NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957
JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526
JBrowse link
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:14510823 PMID:20864493 PMID:23542697 PMID:23542701 PMID:23869883 More... NCBI chr14:77,732,297...77,862,924
Ensembl chr14:77,732,297...77,862,794
JBrowse link
G Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:168,621,905...168,656,570
Ensembl chr 3:168,621,969...168,655,935
JBrowse link
G Eif2b1 eukaryotic translation initiation factor 2B subunit alpha ISO ClinVar Annotator: match by term: Focal seizures ClinVar NCBI chr12:32,025,593...32,033,848
Ensembl chr12:32,025,557...32,046,601
JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:18514161 PMID:19935738 PMID:20550555 PMID:25726841 PMID:25741868 More... NCBI chr 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961
JBrowse link
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:16235065 PMID:17765802 PMID:18625963 PMID:19344764 PMID:19464834 More... NCBI chr 7:97,730,219...98,025,652
Ensembl chr 7:97,730,465...98,025,653
JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:25339316 PMID:25741868 More... NCBI chr 3:8,682,964...8,736,615
Ensembl chr 3:8,682,113...8,736,667
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:25741868 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:18414213 PMID:19277732 PMID:21990111 PMID:22668694 PMID:25227500 More... NCBI chr 2:123,822,042...123,847,808
Ensembl chr 2:123,816,614...123,857,971
JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:10545952 PMID:11673586 PMID:12020273 PMID:14970747 PMID:15210538 More... NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938
JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:28492532 NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146
JBrowse link
G Plcb1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:18414213 PMID:24747189 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:122,059,988...122,772,896
Ensembl chr 3:122,060,031...122,772,869
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Seizure ClinVar PMID:5421039 PMID:9461582 PMID:9539778 PMID:9697698 PMID:9894880 More... NCBI chr 1:86,353,917...86,363,820
Ensembl chr 1:86,353,917...86,363,739
JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure ClinVar PMID:25741868 PMID:26993267 PMID:28492532 PMID:29432985 PMID:31625145 More... NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292
JBrowse link
G Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28491533 More... NCBI chr 5:131,897,250...131,943,953
Ensembl chr 5:131,897,275...131,943,904
JBrowse link
White-Sutton syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome ClinVar PMID:25741868 NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574
JBrowse link
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome ClinVar PMID:25741868 NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
JBrowse link
G Pogz pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | ClinVar Annotator: match by term: POGZ-related condition OMIM
ClinVar
PMID:9862965 PMID:22495311 PMID:22542183 PMID:23375656 PMID:24267886 More... NCBI chr 2:182,394,269...182,440,711
Ensembl chr 2:182,380,768...182,440,707
JBrowse link
X-linked mental retardation Gustavson type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbmx RNA binding motif protein, X-linked ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES | ClinVar Annotator: match by term: Mental retardation Gustavson type, X-linked
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 NCBI chr  X:135,305,237...135,314,806
Ensembl chr  X:135,305,325...135,314,743
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    sensory system disease 7375
      eye disease 3722
        visual pathway disease 199
          visual cortex disease 196
            cortical blindness + 1
            visual epilepsy + 196
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      nervous system disease 14360
        Neurologic Manifestations 10450
          sensory system disease 7375
            eye disease 3722
              visual pathway disease 199
                visual cortex disease 196
                  cortical blindness + 1
                  visual epilepsy + 196
paths to the root