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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 pathway disease
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Accession:DOID:1393 term browser browse the term
Definition:An eye disease that affects the neural pathway from the optic nerve to the visual cortex, through which light is interpreted as an image. (DO)
Synonyms:primary_id: RDO:9002702
 xref: ICD10CM:H47.9;   NCI:C35342
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 4:171,554,139...171,573,057
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 4:169,491,273...169,496,500
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 4:169,278,118...169,361,508
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 4:172,119,497...172,291,670
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 4:170,297,811...170,775,420
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 4:168,997,937...169,131,716
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 4:171,895,104...172,105,911
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:2411576 PMID:3057194 PMID:9536098 PMID:16199547 PMID:16943371 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 PMID:28934486 PMID:32135276 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 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24686846 PMID:25482530 PMID:25741868 More... 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 1:126,123,425...126,249,181
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 1:127,327,098...127,356,807
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 1:126,917,671...126,948,436
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
coloboma of optic nerve term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhx37 DEAH-box helicase 37 ISO ClinVar Annotator: match by term: Coloboma of optic nerve ClinVar PMID:31256877 NCBI chr12:31,194,782...31,214,890
Ensembl chr12:31,194,859...31,216,802 		JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Coloboma of optic nerve | ClinVar Annotator: match by term: Congenital coloboma of the optic nerve ClinVar PMID:25741868 NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243 		JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Coloboma of optic nerve | ClinVar Annotator: match by term: Congenital coloboma of the optic nerve
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:10234503 PMID:12634864 PMID:12721955 PMID:18483559 PMID:22692063 More... NCBI chr 3:112,590,034...112,611,771
Ensembl chr 3:92,135,637...92,157,014 		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 chr17:11,102,284...11,107,949
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 chr13:87,261,964...87,286,911
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 1:191,025,259...191,052,866
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 chr15:2,912,543...3,295,745
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 chr17:56,030,409...56,072,952
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 chr17:55,983,627...56,031,578
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 PMID:39753114 NCBI chr 4:122,276,907...122,473,049
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:16199547 PMID:18414213 PMID:20950787 PMID:25741868 PMID:26004231 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 3:127,057,220...127,092,779
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 chr13:23,421,758...23,446,848
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:33,925,458...33,972,851
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:34,106,553...34,166,651
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:33,035,387...33,051,993
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:33,740,428...33,851,049
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: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,077,799...148,088,427
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 1:89,700,645...89,729,782
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: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,450,207...148,763,653
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: Generalized myoclonic-atonic seizure 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: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,011,977...148,028,431
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 chr19:40,425,560...40,724,810
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
G Camk1 calcium/calmodulin-dependent protein kinase I ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure 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:17,437,219...17,443,716
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 Annotator: match by term: Generalized myoclonic-atonic seizure 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: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,124,924...148,137,806
Ensembl chr 4:146,569,289...146,582,173 		JBrowse link
G Cpne9 copine family member 9 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure 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: Generalized myoclonic-atonic seizure 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 3:36,002,535...36,055,220
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: Generalized myoclonic-atonic seizure 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: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,234,633...148,299,035
Ensembl chr 4:146,679,179...146,743,412 		JBrowse link
G Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure 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 chr11:85,501,947...86,069,543
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:152,284,857...152,322,686
Ensembl chr  X:147,240,301...147,278,050 		JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,421,315...148,431,128
Ensembl chr 4:146,865,712...146,869,621 		JBrowse link
G Il17rc interleukin 17 receptor C ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure 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: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,160,384...148,173,830
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:24,734,202...24,816,566
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: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,341,704...148,398,211
Ensembl chr 4:146,786,100...146,842,602 		JBrowse link
G Jagn1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure 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 chr12:27,663,177...27,697,085
Ensembl chr12:22,026,672...22,060,606 		JBrowse link
G Mtmr14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure 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: Generalized myoclonic-atonic seizure 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 1:250,040,250...250,194,364
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:17,445,313...17,447,950
Ensembl chr  X:14,773,420...14,775,909 		JBrowse link
G Prrt3 proline-rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure 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: Generalized myoclonic-atonic seizure | 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: Generalized myoclonic-atonic seizure 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:18464934 PMID:19710327 PMID:25741868 PMID:28218389 PMID:28492532 More... 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: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,433,344...148,446,735
Ensembl chr 4:146,875,524...146,891,173 		JBrowse link
G Sema6b semaphorin 6B ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25741868 NCBI chr 9:1,038,103...1,055,063
Ensembl chr 9:950,939...961,521 		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 Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25741868 NCBI chr 5:138,002,522...138,030,742
Ensembl chr 5:132,717,196...132,745,416 		JBrowse link
G Slc6a1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | 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: 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: 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: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,853,557...148,968,895
Ensembl chr 4:147,297,969...147,413,443 		JBrowse link
G Spout1 SPOUT domain containing methyltransferase 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure ClinVar PMID:25741868 PMID:38260255 NCBI chr 3:13,451,191...13,458,918
Ensembl chr 3:13,451,202...13,493,355 		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 3:36,474,428...36,536,120
Ensembl chr 3:16,076,391...16,138,369 		JBrowse link
G Tada3 transcriptional adaptor 3 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure 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: Generalized myoclonic-atonic seizure 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: Generalized myoclonic-atonic seizure ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,088,575...148,113,526
Ensembl chr 4:146,533,953...146,557,889 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure 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:17,448,195...17,454,117
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 6:46,564,855...46,592,776
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 9:62,853,904...63,247,472
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 3:32,889,856...32,949,032
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 2:188,564,348...188,590,872
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 2:188,858,574...188,864,694
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 2:188,299,336...188,432,823
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: CACNA1D-related neurodevelopmental and endocrine disorders | 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 chr16:5,233,682...5,527,549
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 chr12:19,144,474...19,152,951
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 1:191,053,228...191,055,554 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 chr19:51,020,596...51,071,401
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:17360675 PMID:21210909 PMID:22729223 PMID:23322780 PMID:23636326 More... NCBI chr 5:164,167,985...164,277,438
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 2:34,612,946...34,697,660
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 chr16:18,699,389...18,708,045
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:122,154,332...122,192,299
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 chr18:52,208,035...52,240,293
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 2:125,749,994...125,784,689
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 7:122,302,550...122,319,570
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 5:62,040,979...62,052,067
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 3:142,512,765...143,224,042
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 chr13:32,499,678...32,716,418
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 chr17:54,134,064...54,405,198
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 19143
    sensory system disease 7373
      eye disease 3730
        visual pathway disease 202
          coloboma of optic nerve 3
          crater-like holes of optic disc 0
          nerve fibre bundle defect 0
          pseudopapilledema 0
          visual cortex disease + 199
Path 2
Term Annotations click to browse term
  disease 19143
    disease of anatomical entity 18456
      nervous system disease 14362
        Neurologic Manifestations 10461
          sensory system disease 7373
            eye disease 3730
              visual pathway disease 202
                coloboma of optic nerve 3
                crater-like holes of optic disc 0
                nerve fibre bundle defect 0
                pseudopapilledema 0
                visual cortex disease + 199
paths to the root