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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
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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
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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
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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
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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
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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
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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
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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 |
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NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
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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
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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
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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
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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
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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
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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
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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
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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
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|
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
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|
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
|
|
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
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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 PMID:19874789 PMID:20890276 PMID:22833210 PMID:22986046 PMID:23033978 PMID:23160955 PMID:23408766 PMID:23918416 PMID:23934111 PMID:24272827 PMID:24759409 PMID:25326635 PMID:25326637 PMID:25356899 PMID:25741868 PMID:25741869 PMID:26350515 PMID:26467025 PMID:26633542 PMID:27135925 PMID:27353043 PMID:27572814 PMID:27616045 PMID:27656287 PMID:27818011 PMID:27839871 PMID:28191890 PMID:28283559 PMID:28333917 PMID:28377535 PMID:28492532 PMID:28503605 PMID:28554332 PMID:28708303 PMID:28856709 PMID:28867141 PMID:29681796 PMID:29851452 PMID:30151416 PMID:30217972 PMID:30315573 PMID:30440138 PMID:30564305 PMID:30842224 PMID:31429998 PMID:31623504 PMID:31807283 PMID:33229608 PMID:33604570 PMID:34008892 PMID:34160719 PMID:34212862 PMID:36704660 PMID:37369021 More...
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|
NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
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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
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|
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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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G |
Wbp11 |
WW domain binding protein 11 |
|
ISO |
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:169,680,984...169,694,431
Ensembl chr 4:169,680,983...169,694,443
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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 PMID:25182133 PMID:25741868 PMID:28492532 PMID:30891747 More...
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NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
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G |
Stn1 |
STN1 subunit of CST complex |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
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NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531
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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 PMID:22267198 PMID:22387016 PMID:22532422 PMID:22899577 PMID:23869908 PMID:24033266 PMID:24115768 PMID:25182133 PMID:25197929 PMID:25741868 PMID:25843205 PMID:28492532 PMID:28864049 PMID:29111009 PMID:29146883 PMID:29228254 PMID:29481669 PMID:30523342 PMID:30891747 PMID:33510405 PMID:34573280 PMID:34706368 More...
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NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
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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 PMID:29481669 More...
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NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420
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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 |
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NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531
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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 |
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NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042
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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 |
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NCBI chr 1:116,711,559...116,837,269
Ensembl chr 1:116,714,711...116,837,240
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G |
Fan1 |
FANCD2 and FANCI associated nuclease 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:117,915,323...117,945,044
Ensembl chr 1:117,917,099...117,944,977
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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 |
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NCBI chr 1:117,505,857...117,536,626
Ensembl chr 1:117,503,602...117,551,227
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G |
Mir211 |
microRNA 211 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:117,777,539...117,777,644
Ensembl chr 1:117,777,539...117,777,644
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G |
Mtmr10 |
myotubularin related protein 10 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:117,859,355...117,910,839
Ensembl chr 1:117,859,267...117,910,849
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G |
Otud7a |
OTU deubiquitinase 7A |
|
ISS ISO |
OMIM:612001 ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome |
MouseDO ClinVar |
PMID:31690835 |
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NCBI chr 1:117,064,428...117,388,217
Ensembl chr 1:117,064,496...117,386,480
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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 |
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NCBI chr 1:117,718,896...117,835,434
Ensembl chr 1:117,718,896...117,834,605
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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 PMID:10742103 PMID:16319823 PMID:18786927 PMID:20301307 PMID:23918290 PMID:23949913 PMID:25741868 PMID:27013732 PMID:28492532 More...
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NCBI chr17:11,097,214...11,102,879
Ensembl chr17:11,097,103...11,102,879
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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 PMID:26048982 PMID:26467025 PMID:26795593 PMID:26834045 PMID:28492532 PMID:28940898 PMID:30923367 PMID:31688097 PMID:31929336 PMID:32094338 More...
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NCBI chr 1:196,401,857...196,435,541
Ensembl chr 1:196,401,857...196,435,541
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G |
Atp1a2 |
ATPase Na+/K+ transporting subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: EAST syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
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G |
Igsf8 |
immunoglobulin superfamily, member 8 |
|
ISO |
ClinVar Annotator: match by term: EAST syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,770,348...84,781,534
Ensembl chr13:84,770,279...84,778,576
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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 PMID:20807765 PMID:21088294 PMID:21221631 PMID:21458570 PMID:21849804 PMID:22612257 PMID:22782654 PMID:23869231 PMID:23918157 PMID:23924083 PMID:23965030 PMID:24193250 PMID:24378235 PMID:24480364 PMID:24561201 PMID:24860705 PMID:25372295 PMID:25741868 PMID:26467025 PMID:26867573 PMID:27171548 PMID:27182706 PMID:27500072 PMID:27535533 PMID:27677466 PMID:27875746 PMID:27884173 PMID:28492532 PMID:28747464 PMID:28835827 PMID:29191078 PMID:29615871 PMID:30304693 PMID:30733538 PMID:32062759 PMID:32233732 PMID:32581362 PMID:33084218 PMID:33424762 PMID:19420365 More...
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RGD:8662866 |
NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461
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G |
Kcnj9 |
potassium inwardly-rectifying channel, subfamily J, member 9 |
|
ISO |
ClinVar Annotator: match by term: EAST syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,780,826...84,787,928
Ensembl chr13:84,779,741...84,787,928
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G |
Mvp |
major vault protein |
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ISO |
ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial |
ClinVar |
PMID:25741868 |
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NCBI chr 1:181,594,734...181,622,336
Ensembl chr 1:181,594,734...181,622,380
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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 PMID:22101681 PMID:22120146 PMID:22131361 PMID:22209761 PMID:22243967 PMID:22399141 PMID:22464846 PMID:22623405 PMID:22744660 PMID:22752065 PMID:22782515 PMID:22832103 PMID:22845787 PMID:22870186 PMID:22875091 PMID:22877996 PMID:22902309 PMID:23077016 PMID:23077017 PMID:23077024 PMID:23077026 PMID:23126439 PMID:23180180 PMID:23182655 PMID:23190448 PMID:23299620 PMID:23352743 PMID:23363396 PMID:23566103 PMID:23768507 PMID:23771590 PMID:24074546 PMID:24370076 PMID:24465263 PMID:24594579 PMID:24755245 PMID:24928127 PMID:25167861 PMID:25449067 PMID:25457817 PMID:25502464 PMID:25522171 PMID:25667652 PMID:25741868 PMID:25915028 PMID:26467025 PMID:26561923 PMID:26598493 PMID:26598494 PMID:27172900 PMID:27173777 PMID:28074849 PMID:28492532 PMID:28906077 PMID:29132464 PMID:29215089 PMID:29334453 PMID:31124310 PMID:31722684 PMID:33126486 PMID:33661484 PMID:34782754 More...
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NCBI chr 1:181,625,243...181,628,833
Ensembl chr 1:181,604,545...181,628,850
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Adk |
adenosine kinase |
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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 |
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NCBI chr15:2,863,241...3,246,453
Ensembl chr15:2,863,244...3,246,510
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B3galnt2 |
beta-1,3-N-acetylgalactosaminyltransferase 2 |
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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 |
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NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469
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Tbce |
tubulin folding cofactor E |
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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 PMID:17576681 PMID:20152369 PMID:25097779 PMID:25741868 PMID:26231322 PMID:26336027 PMID:27666369 PMID:28492532 PMID:30080992 PMID:30638765 PMID:33652732 PMID:34134906 PMID:34356170 PMID:35432193 More...
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NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
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Eefsec |
eukaryotic elongation factor, selenocysteine-tRNA-specific |
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ISO |
ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 4:120,719,616...120,915,779
Ensembl chr 4:120,707,133...120,915,779
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Med17 |
mediator complex subunit 17 |
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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 PMID:28492532 PMID:30345598 PMID:30919572 More...
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NCBI chr 8:12,101,594...12,120,592
Ensembl chr 8:12,101,594...12,120,592
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Nusap1 |
nucleolar and spindle associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 3:106,603,273...106,633,428
Ensembl chr 3:106,603,289...106,633,624
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Pnkp |
polynucleotide kinase 3'-phosphatase |
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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 PMID:17576681 PMID:18005052 PMID:18266750 PMID:18414213 PMID:18678442 PMID:18845387 PMID:20118933 PMID:21307862 PMID:21560189 PMID:22508754 PMID:23224214 PMID:23708187 PMID:23833122 PMID:24033266 PMID:24938145 PMID:25558065 PMID:25728773 PMID:25741868 PMID:26467025 PMID:26993267 PMID:27066567 PMID:27066586 PMID:27125728 PMID:27232581 PMID:27890643 PMID:28492532 PMID:29261713 PMID:29652299 PMID:29655203 PMID:29720203 PMID:30039206 PMID:31041400 PMID:31061747 PMID:31167812 PMID:31436889 PMID:31707899 PMID:32010037 PMID:32056211 PMID:32123317 PMID:32347949 PMID:32504494 PMID:32980744 PMID:33654647 PMID:34009545 PMID:34040816 PMID:34697416 PMID:35354845 PMID:35426160 PMID:37301908 More...
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NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920
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Rttn |
rotatin |
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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 PMID:24033266 PMID:25326635 PMID:25741868 PMID:26608784 PMID:26846091 PMID:26940245 PMID:28492532 PMID:29883675 PMID:30121372 More...
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NCBI chr18:82,220,999...82,398,334
Ensembl chr18:82,221,050...82,398,333
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G |
Pign |
phosphatidylinositol glycan anchor biosynthesis, class N |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome |
ClinVar |
PMID:16199547 PMID:24033266 PMID:24253414 PMID:25741868 PMID:26364997 PMID:26394714 PMID:27038415 PMID:28492532 PMID:30293990 PMID:30609409 More...
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NCBI chr13:21,659,092...21,812,932
Ensembl chr13:21,662,455...21,806,790
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Bcl2 |
BCL2, apoptosis regulator |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
ClinVar |
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
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NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Kdsr |
3-ketodihydrosphingosine reductase |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
ClinVar |
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
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NCBI chr13:22,862,117...22,894,118
Ensembl chr13:22,862,117...22,894,108
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Phlpp1 |
PH domain and leucine rich repeat protein phosphatase 1 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
ClinVar |
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
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NCBI chr13:22,308,532...22,530,978
Ensembl chr13:22,308,548...22,530,977
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G |
Pign |
phosphatidylinositol glycan anchor biosynthesis, class N |
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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 PMID:18606301 PMID:21493957 PMID:22271396 PMID:24033266 PMID:24253414 PMID:24852103 PMID:25590979 PMID:25640679 PMID:25741868 PMID:25920937 PMID:26364997 PMID:26394714 PMID:26419326 PMID:26467025 PMID:26539891 PMID:26633542 PMID:26879448 PMID:26964041 PMID:27038415 PMID:27290639 PMID:27891564 PMID:28273706 PMID:28327575 PMID:28492532 PMID:29096607 PMID:29330547 PMID:30293990 PMID:30609409 PMID:30660939 PMID:30665423 PMID:30709774 PMID:31440721 PMID:31628766 PMID:32064623 PMID:32220244 PMID:32860008 PMID:33193741 PMID:33502061 PMID:33619735 PMID:33763700 PMID:34051595 PMID:34426522 PMID:34782754 PMID:34906502 PMID:34930662 PMID:34958143 PMID:35179230 PMID:35322241 PMID:35468813 PMID:35982159 PMID:36322149 More...
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NCBI chr13:21,659,092...21,812,932
Ensembl chr13:21,662,455...21,806,790
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Relch |
RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
ClinVar |
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
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NCBI chr13:21,806,972...21,902,807
Ensembl chr13:21,806,972...21,902,807
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G |
Serpinb10 |
serpin family B member 10 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
ClinVar |
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
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NCBI chr13:23,553,348...23,571,182
Ensembl chr13:23,553,430...23,571,182
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G |
Serpinb11 |
serpin family B member 11 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
ClinVar |
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
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NCBI chr13:23,304,775...23,344,604
Ensembl chr13:23,304,456...23,344,604
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G |
Serpinb12 |
serpin family B member 12 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
ClinVar |
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
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NCBI chr13:23,052,384...23,083,691
Ensembl chr13:23,052,448...23,083,691
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G |
Serpinb13 |
serpin family B member 13 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
ClinVar |
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
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NCBI chr13:23,118,582...23,150,352
Ensembl chr13:23,118,584...23,150,760
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G |
Serpinb2 |
serpin family B member 2 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
ClinVar |
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
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NCBI chr13:23,537,312...23,551,823
Ensembl chr13:23,541,400...23,550,408
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G |
Serpinb3 |
serpin family B member 3 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
ClinVar |
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
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NCBI chr13:23,274,120...23,280,660
Ensembl chr13:23,274,484...23,313,682
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G |
Serpinb3a |
serpin family B member 3A |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
ClinVar |
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
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NCBI chr13:23,241,303...23,246,328
Ensembl chr13:23,236,972...23,246,985
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G |
Serpinb5 |
serpin family B member 5 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
ClinVar |
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
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NCBI chr13:22,985,557...23,005,756
Ensembl chr13:22,985,557...23,005,756
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G |
Serpinb7 |
serpin family B member 7 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
ClinVar |
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
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NCBI chr13:23,369,830...23,442,205
Ensembl chr13:23,395,671...23,442,205
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G |
Serpinb8 |
serpin family B member 8 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
ClinVar |
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
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NCBI chr13:23,626,936...23,650,277
Ensembl chr13:23,626,945...23,650,835
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G |
Tnfrsf11a |
TNF receptor superfamily member 11A |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
ClinVar |
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
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NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695
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G |
Vps4b |
vacuolar protein sorting 4 homolog B |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
ClinVar |
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
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NCBI chr13:22,907,105...22,932,200
Ensembl chr13:22,907,109...22,932,229
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G |
Zcchc2 |
zinc finger CCHC-type containing 2 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
ClinVar |
PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532 More...
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NCBI chr13:22,118,677...22,193,626
Ensembl chr13:22,119,568...22,166,373
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Ace2 |
angiotensin converting enzyme 2 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977
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G |
Ap1s2 |
adaptor related protein complex 1 subunit sigma 2 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chr X:30,572,746...30,598,961
Ensembl chr X:30,572,751...30,597,262
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G |
Asb11 |
ankyrin repeat and SOCS box containing 11 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chr X:30,014,485...30,037,808
Ensembl chr X:29,992,416...30,037,807
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G |
Asb9 |
ankyrin repeat and SOCS box-containing 9 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chr X:29,956,576...30,001,436
Ensembl chr X:29,956,576...30,001,105
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G |
Bmx |
BMX non-receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chr X:30,227,251...30,290,015
Ensembl chr X:30,227,251...30,289,993
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G |
Car5b |
carbonic anhydrase 5B |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chr X:30,474,697...30,534,797
Ensembl chr X:30,474,784...30,533,837
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G |
Cltrn |
collectrin, amino acid transport regulator |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chr X:30,361,967...30,395,264
Ensembl chr X:30,361,967...30,395,349
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G |
Fancb |
FA complementation group B |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chr X:29,403,771...29,420,484
Ensembl chr X:29,403,771...29,420,192
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G |
Mospd2 |
motile sperm domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chr X:29,420,485...29,472,099
Ensembl chr X:29,420,586...29,462,398
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G |
Piga |
phosphatidylinositol glycan anchor biosynthesis, class A |
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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 PMID:9536098 PMID:10087994 PMID:15307104 PMID:17576681 PMID:19377476 PMID:22305531 PMID:24259184 PMID:24259288 PMID:24357517 PMID:24706016 PMID:24759409 PMID:25326635 PMID:25590979 PMID:25741868 PMID:26467025 PMID:26545172 PMID:27353043 PMID:28133863 PMID:28441409 PMID:28492532 PMID:29159939 PMID:29310717 PMID:29314583 PMID:29656098 PMID:31164858 PMID:31175295 PMID:31618474 PMID:31704190 PMID:31957018 PMID:32176464 PMID:32220244 PMID:32452540 PMID:32694024 PMID:33333793 PMID:33763700 PMID:34355501 PMID:34782754 More...
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NCBI chr X:30,043,033...30,055,861
Ensembl chr X:30,042,343...30,055,804
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Pir |
pirin |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chr X:30,108,536...30,219,269
Ensembl chr X:30,108,538...30,219,218
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G |
Vegfd |
vascular endothelial growth factor D |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chr X:30,073,122...30,108,413
Ensembl chr X:30,074,163...30,108,295
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G |
Zrsr2 |
zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 |
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ISO |
ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
ClinVar |
PMID:24706016 PMID:26545172 PMID:28492532 |
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NCBI chr X:30,547,424...30,571,613
Ensembl chr X:30,547,536...30,570,125
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Pigt |
phosphatidylinositol glycan anchor biosynthesis, class T |
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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 PMID:24906948 PMID:25741868 PMID:25943031 PMID:27916860 PMID:28327575 PMID:28492532 PMID:28728837 PMID:29868109 PMID:30049826 PMID:30813157 PMID:30976099 PMID:31130284 PMID:32220244 PMID:32404165 PMID:32581362 PMID:32725661 PMID:34046058 PMID:36177944 More...
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NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887
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Pigq |
phosphatidylinositol glycan anchor biosynthesis, class Q |
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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 PMID:31148362 PMID:32588908 PMID:32746448 More...
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NCBI chr10:14,942,571...14,958,584
Ensembl chr10:14,942,577...14,958,584
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Arpc4 |
actin related protein 2/3 complex, subunit 4 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,522,255...146,532,784
Ensembl chr 4:146,522,176...146,532,785
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Atp1a3 |
ATPase Na+/K+ transporting subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy |
ClinVar |
PMID:25741868 |
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NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
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Atp2b2 |
ATPase plasma membrane Ca2+ transporting 2 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,894,602...147,208,060
Ensembl chr 4:146,896,332...147,140,665
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Brk1 |
BRICK1 subunit of SCAR/WAVE actin nucleating complex |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,750,821...146,766,050
Ensembl chr 4:146,750,821...146,768,856
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Brpf1 |
bromodomain and PHD finger containing, 1 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,456,325...146,472,781
Ensembl chr 4:146,456,318...146,472,649
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Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
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ISO |
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy |
ClinVar |
PMID:25735478 PMID:25741868 PMID:28492532 PMID:28566750 PMID:30142438 PMID:32910250 More...
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NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
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Camk1 |
calcium/calmodulin-dependent protein kinase I |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,481,196...146,492,039
Ensembl chr 4:146,481,196...146,492,081
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Ccdc120 |
coiled-coil domain containing 120 |
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ISO |
ClinVar Annotator: match by term: Early onset epileptic encephalopathy |
ClinVar |
PMID:26173968 |
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NCBI chr X:14,753,594...14,772,745
Ensembl chr X:14,753,696...14,772,743
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Chd2 |
chromodomain helicase DNA binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset |
ClinVar |
PMID:23708187 PMID:24207121 PMID:25741868 PMID:25783594 PMID:28492532 PMID:29358611 More...
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NCBI chr 1:127,188,146...127,317,041
Ensembl chr 1:127,190,059...127,300,502
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Cidec |
cell death-inducing DFFA-like effector c |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,569,288...146,582,173
Ensembl chr 4:146,569,289...146,582,173
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Cpne9 |
copine family member 9 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,429,961...146,454,335
Ensembl chr 4:146,430,792...146,454,333
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Creld1 |
cysteine-rich with EGF-like domains 1 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,631,883...146,641,493
Ensembl chr 4:146,631,883...146,641,499
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Dnm1 |
dynamin 1 |
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ISO |
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RGD |
PMID:27363778 |
RGD:11557016 |
NCBI chr 3:15,604,782...15,648,654
Ensembl chr 3:15,604,784...15,648,538
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Emc3 |
ER membrane protein complex subunit 3 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,663,065...146,678,976
Ensembl chr 4:146,663,067...146,679,029
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Fancd2 |
FA complementation group D2 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412
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Fancd2os |
FANCD2 opposite strand |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569
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Fgf12 |
fibroblast growth factor 12 |
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ISO |
ClinVar Annotator: match by term: Early onset epileptic encephalopathy |
ClinVar |
PMID:25741868 PMID:27164707 PMID:27830185 PMID:27872899 PMID:28492532 PMID:28506426 PMID:28554332 PMID:29652076 PMID:29699863 More...
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NCBI chr11:71,997,151...72,564,757
Ensembl chr11:71,997,099...72,562,607
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Fmr1 |
fragile X messenger ribonucleoprotein 1 |
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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
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Ghrl |
ghrelin and obestatin prepropeptide |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621
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Il17rc |
interleukin 17 receptor C |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,618,321...146,631,444
Ensembl chr 4:146,619,004...146,631,442
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Il17re |
interleukin 17 receptor E |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,604,547...146,618,206
Ensembl chr 4:146,605,526...146,618,206
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Iqsec2 |
IQ motif and Sec7 domain ArfGEF 2 |
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ISO |
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy |
ClinVar |
PMID:25741868 |
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NCBI chr X:21,254,799...21,337,179
Ensembl chr X:21,254,914...21,336,584
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Irak2 |
interleukin-1 receptor-associated kinase 2 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,786,004...146,842,615
Ensembl chr 4:146,786,100...146,842,602
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Jagn1 |
jagunal homolog 1 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,591,577...146,596,287
Ensembl chr 4:146,591,510...146,596,288
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Limk1 |
LIM domain kinase 1 |
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ISO |
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy |
ClinVar |
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NCBI chr12:22,026,697...22,060,605
Ensembl chr12:22,026,672...22,060,606
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Mtmr14 |
myotubularin related protein 14 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,386,949...146,429,990
Ensembl chr 4:146,386,956...146,429,990
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Ogg1 |
8-oxoguanine DNA glycosylase |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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Pik3ap1 |
phosphoinositide-3-kinase adaptor protein 1 |
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ISO |
ClinVar Annotator: match by term: Infantile spasm |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:240,090,854...240,245,007
Ensembl chr 1:240,093,065...240,204,828
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Praf2 |
PRA1 domain family, member 2 |
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ISO |
ClinVar Annotator: match by term: Early onset epileptic encephalopathy |
ClinVar |
PMID:26173968 |
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NCBI chr X:14,773,398...14,776,035
Ensembl chr X:14,773,420...14,775,909
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Prrt3 |
proline-rich transmembrane protein 3 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,641,173...146,650,487
Ensembl chr 4:146,641,173...146,650,317
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Ralgapa1 |
Ral GTPase activating protein catalytic subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Infantile spasm |
ClinVar |
PMID:32004447 |
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NCBI chr 6:72,977,432...73,252,378
Ensembl chr 6:72,977,432...73,252,378
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Rbfox1 |
RNA binding fox-1 homolog 1 |
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ISO |
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy |
ClinVar |
PMID:25741868 |
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NCBI chr10:8,152,198...10,248,120
Ensembl chr10:8,152,198...9,686,659
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Rpusd3 |
RNA pseudouridine synthase D3 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,553,743...146,562,789
Ensembl chr 4:146,558,562...146,562,794
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Scn1a |
sodium voltage-gated channel alpha subunit 1 |
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ISO |
ClinVar Annotator: match by term: Infantile spasm |
ClinVar |
PMID:18930999 PMID:19563458 PMID:20452746 PMID:22848613 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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Scn1b |
sodium voltage-gated channel beta subunit 1 |
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ISO |
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy |
ClinVar |
PMID:19710327 PMID:25741868 PMID:28218389 PMID:28492532 PMID:37845033 |
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NCBI chr 1:86,353,917...86,363,820
Ensembl chr 1:86,353,917...86,363,739
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Scn2a |
sodium voltage-gated channel alpha subunit 2 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood |
ClinVar |
PMID:25741868 |
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NCBI chr 3:70,710,862...70,845,569
Ensembl chr 3:50,302,877...50,437,214
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Scn8a |
sodium voltage-gated channel alpha subunit 8 |
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ISO |
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292
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Sec13 |
SEC13 homolog, nuclear pore and COPII coat complex component |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,877,739...146,891,130
Ensembl chr 4:146,875,524...146,891,173
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Slc13a5 |
solute carrier family 13 member 5 |
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ISO |
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy |
ClinVar |
PMID:24033266 PMID:24995870 PMID:25741868 PMID:26384929 PMID:27261973 PMID:27600704 PMID:27913086 PMID:28492532 PMID:28673551 PMID:30525188 PMID:32551328 PMID:33040525 PMID:33063863 More...
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NCBI chr10:56,866,249...56,891,189
Ensembl chr10:56,866,249...56,890,945
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Slc6a1 |
solute carrier family 6 member 1 |
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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 PMID:19344873 PMID:22235131 PMID:22495306 PMID:24859339 PMID:25363768 PMID:25640679 PMID:25741868 PMID:25741909 PMID:25865495 PMID:26467025 PMID:26716362 PMID:27541642 PMID:27824329 PMID:27959697 PMID:28135719 PMID:28191889 PMID:28213519 PMID:28492532 PMID:28708303 PMID:28856709 PMID:29315614 PMID:29358611 PMID:29933521 PMID:29961511 PMID:30132828 PMID:30525188 PMID:31031587 PMID:31302675 PMID:31332282 PMID:31401500 PMID:31780880 PMID:31785789 PMID:31981491 PMID:32005694 PMID:32398021 PMID:32469098 PMID:32581362 PMID:32660967 PMID:33004838 PMID:33241211 PMID:33961861 PMID:34006619 PMID:34028503 PMID:34120799 PMID:34489640 PMID:34653234 PMID:35701389 PMID:35761184 PMID:36674476 PMID:36895422 PMID:37502687 PMID:37647852 PMID:37700749 More...
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NCBI chr 4:147,448,961...147,482,295
Ensembl chr 4:147,466,965...147,482,293
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Slc6a11 |
solute carrier family 6 member 11 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:147,297,972...147,413,319
Ensembl chr 4:147,297,969...147,413,443
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Srgap2 |
SLIT-ROBO Rho GTPase activating protein 2 |
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ISO |
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy |
ClinVar |
PMID:25741868 |
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NCBI chr13:42,745,956...42,967,091
Ensembl chr13:42,745,947...42,967,058
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Stxbp1 |
syntaxin binding protein 1 |
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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 PMID:25741868 PMID:25758715 PMID:25818041 PMID:26384463 PMID:26795593 PMID:26865513 PMID:26993267 PMID:27779742 PMID:28492532 PMID:29264391 PMID:30185235 PMID:30842647 PMID:32643187 More...
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NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
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Tada3 |
transcriptional adaptor 3 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,510,213...146,521,975
Ensembl chr 4:146,510,246...146,521,590
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Tatdn2 |
TatD DNase domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,845,156...146,865,708
Ensembl chr 4:146,845,156...146,860,897
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Tbc1d24 |
TBC1 domain family, member 24 |
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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
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Ttll3 |
tubulin tyrosine ligase like 3 |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,532,958...146,558,425
Ensembl chr 4:146,533,953...146,557,889
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Vhl |
von Hippel-Lindau tumor suppressor |
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ISO |
ClinVar Annotator: match by term: Myoclonic-atonic epilepsy |
ClinVar |
PMID:25865495 PMID:28492532 PMID:31401500 |
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NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
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Wdr45 |
WD repeat domain 45 |
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ISO |
ClinVar Annotator: match by term: Early onset epileptic encephalopathy |
ClinVar |
PMID:26173968 |
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NCBI chr X:14,776,280...14,782,202
Ensembl chr X:14,776,293...14,782,202
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Adarb1 |
adenosine deaminase, RNA-specific, B1 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures |
OMIM ClinVar |
PMID:25741868 PMID:32220291 PMID:32719099 |
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NCBI chr20:11,222,569...11,350,854
Ensembl chr20:11,222,583...11,350,852
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Cpsf3 |
cleavage and polyadenylation specific factor 3 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures |
ClinVar |
PMID:35121750 |
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NCBI chr 6:40,836,121...40,864,129
Ensembl chr 6:40,836,097...40,864,128
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Ankrd44 |
ankyrin repeat domain 44 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language |
ClinVar |
PMID:25741868 |
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NCBI chr 9:56,126,746...56,427,661
Ensembl chr 9:56,126,747...56,427,508
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Hecw2 |
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 |
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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 PMID:29807643 PMID:33205896 PMID:34047014 PMID:34321324 More...
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NCBI chr 9:55,359,462...55,753,106
Ensembl chr 9:55,365,203...55,580,327
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Ntng2 |
netrin G2 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language |
ClinVar |
PMID:25741868 PMID:31668703 |
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NCBI chr 3:12,492,574...12,551,104
Ensembl chr 3:12,492,639...12,545,890
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Lamc3 |
laminin subunit gamma 3 |
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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 PMID:25741868 PMID:26633542 PMID:26802095 PMID:28191889 PMID:28492532 PMID:30266093 PMID:32902107 PMID:33639934 More...
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NCBI chr 3:15,165,220...15,226,697
Ensembl chr 3:15,165,220...15,226,697
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Rtn4ip1 |
reticulon 4 interacting protein 1 |
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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 PMID:31077085 PMID:32392611 PMID:32855858 PMID:33315831 PMID:33841295 More...
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NCBI chr20:47,382,251...47,422,747
Ensembl chr20:47,382,234...47,422,338
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G |
Csmd3 |
CUB and Sushi multiple domains 3 |
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ISO |
ClinVar Annotator: match by term: Kuzniecky syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 7:78,747,322...80,066,466
Ensembl chr 7:78,748,480...80,066,369
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Arx |
aristaless related homeobox |
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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 PMID:10398246 PMID:11889467 PMID:11971879 PMID:12116222 PMID:12376938 PMID:12376946 PMID:12376949 PMID:12640086 PMID:15151512 PMID:15200506 PMID:15850492 PMID:16078051 PMID:16235064 PMID:17331656 PMID:17480217 PMID:20506206 PMID:21204215 PMID:25741868 PMID:26029707 PMID:28492532 PMID:24528893 More...
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RGD:11565843 |
NCBI chr X:58,016,233...58,028,149
Ensembl chr X:58,016,233...58,028,142
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Adam30 |
ADAM metallopeptidase domain 30 |
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ISO |
ClinVar Annotator: match by term: PHGDH deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 2:185,752,183...185,755,623
Ensembl chr 2:185,752,072...185,755,599
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Hao2 |
hydroxyacid oxidase 2 |
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ISO |
ClinVar Annotator: match by term: PHGDH deficiency |
ClinVar |
PMID:14645240 PMID:24836451 PMID:28492532 |
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NCBI chr 2:186,200,137...186,232,997
Ensembl chr 2:186,200,504...186,224,425
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G |
Hmgcs2 |
3-hydroxy-3-methylglutaryl-CoA synthase 2 |
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ISO |
ClinVar Annotator: match by term: PHGDH deficiency |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130
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G |
Hsd3b1 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 |
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ISO |
ClinVar Annotator: match by term: PHGDH deficiency |
ClinVar |
PMID:14645240 PMID:24836451 PMID:28492532 |
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NCBI chr 2:186,169,864...186,175,984
Ensembl chr 2:186,169,863...186,175,999
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G |
Hsd3b2 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
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ISO |
ClinVar Annotator: match by term: PHGDH deficiency |
ClinVar |
PMID:14645240 PMID:24836451 PMID:28492532 |
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NCBI chr 2:188,784,614...188,812,535
Ensembl chr 2:186,095,897...186,101,852
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G |
Notch2 |
notch receptor 2 |
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ISO |
ClinVar Annotator: match by term: PHGDH deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
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G |
Phgdh |
phosphoglycerate dehydrogenase |
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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 PMID:16199547 PMID:17576681 PMID:19235232 PMID:20196394 PMID:21113737 PMID:22393170 PMID:22886422 PMID:24836451 PMID:25152457 PMID:25741868 PMID:25913727 PMID:26467025 PMID:26610677 PMID:26960553 PMID:28135894 PMID:28252636 PMID:28440900 PMID:28492532 PMID:28903583 PMID:29018476 PMID:29286531 PMID:29703746 PMID:30214071 PMID:30348640 PMID:30838783 PMID:31847883 PMID:32404165 PMID:32579715 PMID:33087887 PMID:33565074 PMID:33726816 PMID:33758422 PMID:34055682 PMID:36308023 More...
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NCBI chr 2:185,906,962...185,936,054
Ensembl chr 2:185,906,966...185,935,944
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G |
Reg4 |
regenerating family member 4 |
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ISO |
ClinVar Annotator: match by term: PHGDH deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 2:185,818,946...185,833,252
Ensembl chr 2:185,821,210...185,833,353
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G |
Tbx15 |
T-box transcription factor 15 |
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ISO |
ClinVar Annotator: match by term: PHGDH deficiency |
ClinVar |
PMID:14645240 PMID:24836451 PMID:28492532 |
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NCBI chr 2:186,576,650...186,687,748
Ensembl chr 2:186,576,676...186,687,663
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G |
Wars2 |
tryptophanyl tRNA synthetase 2 (mitochondrial) |
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ISO |
ClinVar Annotator: match by term: PHGDH deficiency |
ClinVar |
PMID:14645240 PMID:24836451 PMID:28492532 |
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NCBI chr 2:186,459,744...186,543,581
Ensembl chr 2:186,459,444...186,543,571
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G |
Zfp697 |
zinc finger protein 697 |
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ISO |
ClinVar Annotator: match by term: PHGDH deficiency |
ClinVar |
PMID:14645240 PMID:24836451 PMID:28492532 |
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NCBI chr 2:185,970,562...186,003,884
Ensembl chr 2:185,970,576...186,001,041
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G |
Cacna1d |
calcium voltage-gated channel subunit alpha1 D |
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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 PMID:26467025 PMID:26842699 PMID:28318089 PMID:28492532 PMID:30054272 PMID:30847666 PMID:32561571 PMID:33432195 More...
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NCBI chr16:5,227,157...5,521,163
Ensembl chr16:5,228,306...5,668,215
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G |
Psat1 |
phosphoserine aminotransferase 1 |
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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 PMID:26610677 PMID:28492532 PMID:29269105 PMID:32077105 PMID:34077496 PMID:34089226 More...
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NCBI chr 1:213,196,709...213,218,564
Ensembl chr 1:213,196,709...213,218,682
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G |
Brat1 |
BRCA1-associated ATM activator 1 |
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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 PMID:23035047 PMID:25319849 PMID:25500575 PMID:25741868 PMID:26467025 PMID:26483087 PMID:26494257 PMID:26535877 PMID:26870756 PMID:26947546 PMID:26964041 PMID:27282546 PMID:27282648 PMID:27480663 PMID:28492532 PMID:28635423 PMID:28752061 PMID:29375859 PMID:29390993 PMID:29431110 PMID:29997391 PMID:30552426 PMID:30786674 PMID:31345272 PMID:31440721 PMID:31618474 PMID:31868227 PMID:32139178 PMID:32565546 PMID:32600977 PMID:32964447 PMID:33040300 PMID:34747546 PMID:35360849 PMID:35620305 PMID:37344571 More...
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NCBI chr12:13,928,889...13,951,760
Ensembl chr12:13,928,898...13,941,248
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G |
Lfng |
LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase |
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ISO |
ClinVar Annotator: match by term: Rigidity and multifocal seizure syndrome, lethal neonatal |
ClinVar |
PMID:22279524 PMID:25500575 PMID:28492532 |
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NCBI chr12:14,030,551...14,038,996
Ensembl chr12:14,018,333...14,039,008
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G |
Pagr1 |
Paxip1-associated glutamate-rich protein 1 |
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ISO |
ClinVar Annotator: match by term: lethal neurodevelopmental disorder |
ClinVar |
PMID:25741868 PMID:34585832 |
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NCBI chr 1:181,622,698...181,625,024
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G |
Diaph1 |
diaphanous-related formin 1 |
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ISO |
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome |
OMIM ClinVar |
PMID:9360932 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22938506 PMID:23804846 PMID:24033266 PMID:24781755 PMID:25342930 PMID:25558065 PMID:25640679 PMID:25741868 PMID:26011067 PMID:26463574 PMID:26467025 PMID:26912466 PMID:27707755 PMID:27808407 PMID:27911912 PMID:28492532 PMID:28815995 PMID:28983057 PMID:29758562 PMID:30311386 PMID:30896630 PMID:32678080 PMID:33176815 PMID:33229591 PMID:33662367 PMID:34125151 PMID:34279089 PMID:35307828 PMID:36118902 More...
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NCBI chr18:29,669,659...29,769,070
Ensembl chr18:29,669,659...29,769,172
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G |
Prmt7 |
protein arginine methyltransferase 7 |
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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 PMID:28492532 PMID:28902392 PMID:29453417 PMID:34244600 PMID:36399134 More...
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NCBI chr19:34,110,724...34,161,531
Ensembl chr19:34,110,747...34,162,577
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G |
Mtor |
mechanistic target of rapamycin kinase |
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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 PMID:24631838 PMID:25599672 PMID:25741868 PMID:25799227 PMID:25851998 PMID:26542245 PMID:26619011 PMID:27159400 PMID:27279227 PMID:27482884 PMID:27513193 PMID:27753196 PMID:27830187 PMID:28475857 PMID:28492532 PMID:28554332 PMID:28892148 PMID:29051493 PMID:29281825 PMID:31441589 PMID:31444548 PMID:32581362 PMID:33077954 PMID:34197453 More...
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NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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G |
Pik3r1 |
phosphoinositide-3-kinase regulatory subunit 1 |
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ISO |
ClinVar Annotator: match by term: Overgrowth syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
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G |
Pik3r2 |
phosphoinositide-3-kinase regulatory subunit 2 |
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ISO |
ClinVar Annotator: match by term: Overgrowth syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr16:18,665,517...18,674,067
Ensembl chr16:18,665,457...18,674,065
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G |
Ap1s2 |
adaptor related protein complex 1 subunit sigma 2 |
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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 PMID:17617514 PMID:18414213 PMID:18428203 PMID:23756445 PMID:25741868 PMID:28492532 PMID:33847015 More...
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NCBI chr X:30,572,746...30,598,961
Ensembl chr X:30,572,751...30,597,262
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G |
Cul4b |
cullin 4B |
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ISO |
ClinVar Annotator: match by term: Pettigrew syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr X:117,287,481...117,326,688
Ensembl chr X:117,287,484...117,326,688
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G |
Aldh7a1 |
aldehyde dehydrogenase 7 family, member A1 |
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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 PMID:17576681 PMID:17721876 PMID:18717709 PMID:19128417 PMID:20301659 PMID:20370816 PMID:22371912 PMID:22784480 PMID:23022070 PMID:23054014 PMID:23350806 PMID:23430810 PMID:24033266 PMID:25326637 PMID:25741868 PMID:26101365 PMID:26224730 PMID:26232297 PMID:26467025 PMID:28492532 PMID:29056246 PMID:30043187 More...
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NCBI chr18:50,003,242...50,042,193
Ensembl chr18:50,009,934...50,042,193
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G |
Chrna4 |
cholinergic receptor nicotinic alpha 4 subunit |
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ISO |
ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:10563623 PMID:10643924 PMID:11904236 PMID:12887446 PMID:14623738 PMID:15154117 PMID:18414213 PMID:19020039 PMID:19058950 PMID:19628475 PMID:21107856 PMID:21683344 PMID:21753767 PMID:22036597 PMID:22873564 PMID:22883468 PMID:24385388 PMID:25741868 PMID:26467025 PMID:26561946 PMID:28492532 More...
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NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957
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G |
Cstb |
cystatin B |
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ISO |
ClinVar Annotator: match by term: Seizure |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526
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G |
Depdc5 |
DEP domain containing 5, GATOR1 subcomplex subunit |
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ISO |
ClinVar Annotator: match by term: Seizure |
ClinVar |
PMID:14510823 PMID:20864493 PMID:23542697 PMID:23542701 PMID:23869883 PMID:24283814 PMID:25366275 PMID:25599672 PMID:25741868 PMID:26000329 PMID:26467025 PMID:26505888 PMID:27066554 PMID:28102150 PMID:28166811 PMID:28492532 PMID:28717674 PMID:29356177 PMID:29358611 PMID:30093711 More...
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NCBI chr14:77,732,297...77,862,924
Ensembl chr14:77,732,297...77,862,794
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G |
Dnajc5 |
DnaJ heat shock protein family (Hsp40) member C5 |
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ISO |
ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 3:168,621,905...168,656,570
Ensembl chr 3:168,621,969...168,655,935
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G |
Eif2b1 |
eukaryotic translation initiation factor 2B subunit alpha |
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ISO |
ClinVar Annotator: match by term: Focal seizures |
ClinVar |
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NCBI chr12:32,025,593...32,033,848
Ensembl chr12:32,025,557...32,046,601
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G |
Gabrb3 |
gamma-aminobutyric acid type A receptor subunit beta 3 |
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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 PMID:26467025 PMID:26845707 PMID:26950270 PMID:28492532 More...
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NCBI chr 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961
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G |
Kcnq3 |
potassium voltage-gated channel subfamily Q member 3 |
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ISO |
ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:16235065 PMID:17765802 PMID:18625963 PMID:19344764 PMID:19464834 PMID:21703448 PMID:22612257 PMID:23596459 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 PMID:29383681 PMID:29852413 PMID:31440727 More...
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NCBI chr 7:97,730,219...98,025,652
Ensembl chr 7:97,730,465...98,025,653
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G |
Kcnt1 |
potassium sodium-activated channel subfamily T member 1 |
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ISO |
ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:9536098 PMID:17576681 PMID:18414213 PMID:25339316 PMID:25741868 PMID:26105150 PMID:26122718 PMID:26140313 PMID:26467025 PMID:26740507 PMID:26786403 PMID:27029629 PMID:28488083 PMID:28492532 PMID:28554332 PMID:29100083 PMID:29358611 PMID:29422393 More...
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NCBI chr 3:8,682,964...8,736,615
Ensembl chr 3:8,682,113...8,736,667
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G |
Kmt2d |
lysine methyltransferase 2D |
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ISO |
ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures |
ClinVar |
PMID:25741868 |
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NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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G |
Mfsd8 |
major facilitator superfamily domain containing 8 |
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ISO |
ClinVar Annotator: match by term: Seizure |
ClinVar |
PMID:18414213 PMID:19277732 PMID:21990111 PMID:22668694 PMID:25227500 PMID:25333361 PMID:25741868 PMID:26467025 PMID:26681805 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28586915 PMID:29924869 PMID:31006324 PMID:32581362 PMID:33546218 More...
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NCBI chr 2:123,822,042...123,847,808
Ensembl chr 2:123,816,614...123,857,971
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G |
Ncaph2 |
non-SMC condensin II complex, subunit H2 |
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ISO |
ClinVar Annotator: match by term: Seizure |
ClinVar |
PMID:10545952 PMID:11673586 PMID:12020273 PMID:14970747 PMID:15210538 PMID:16326995 PMID:16765077 PMID:23643385 PMID:23719228 PMID:25741868 PMID:28492532 More...
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NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938
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G |
Pigo |
phosphatidylinositol glycan anchor biosynthesis, class O |
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ISO |
ClinVar Annotator: match by term: Seizure |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146
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G |
Plcb1 |
phospholipase C beta 1 |
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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 |
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NCBI chr 3:122,059,988...122,772,896
Ensembl chr 3:122,060,031...122,772,869
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G |
Polg |
DNA polymerase gamma, catalytic subunit |
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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 PMID:11555352 PMID:11571332 PMID:12073019 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14557557 PMID:14635118 PMID:14694057 PMID:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15534189 PMID:15689359 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16080118 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16715201 PMID:16929381 PMID:16940310 PMID:16943369 PMID:17088268 PMID:17280874 PMID:17418573 PMID:17426723 PMID:17436221 PMID:17438011 PMID:17452231 PMID:17538929 PMID:17846414 PMID:17894835 PMID:17950645 PMID:17980715 PMID:18156159 PMID:18195149 PMID:18195151 PMID:18294203 PMID:18321754 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18716558 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19125351 PMID:19189930 PMID:19195941 PMID:19251978 PMID:19307547 PMID:19364868 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19762913 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19887119 PMID:20138553 PMID:20142534 PMID:20153822 PMID:20176107 PMID:20185557 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20438629 PMID:20513108 PMID:20513922 PMID:20576279 PMID:20691285 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20843780 PMID:20981092 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21236670 PMID:21276947 PMID:21305355 PMID:21357833 PMID:21455106 PMID:21515089 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21953457 PMID:21956653 PMID:21993618 PMID:22006280 PMID:22166854 PMID:22189570 PMID:22237560 PMID:22342071 PMID:22537151 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22931735 PMID:22933815 PMID:22987704 PMID:22995991 PMID:23066759 PMID:23077218 PMID:23208208 PMID:23212759 PMID:23248042 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23419467 PMID:23426270 PMID:23430834 PMID:23446635 PMID:23448099 PMID:23545419 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23873972 PMID:23921535 PMID:24033266 PMID:24091540 PMID:24122062 PMID:24259288 PMID:24265579 PMID:24272679 PMID:24331360 PMID:24508722 PMID:24642831 PMID:24725338 PMID:24841123 PMID:25025039 PMID:25118206 PMID:25193669 PMID:25281868 PMID:25286830 PMID:25356970 PMID:25462018 PMID:25488682 PMID:25585994 PMID:25660390 PMID:25713120 PMID:25741868 PMID:25742477 PMID:25850945 PMID:25940035 PMID:26077851 PMID:26095671 PMID:26104464 PMID:26224072 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26557169 PMID:26607151 PMID:26735972 PMID:26742794 PMID:26755490 PMID:26942291 PMID:26942292 PMID:26968897 PMID:27016405 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27290639 PMID:27345795 PMID:27422324 PMID:27538604 PMID:27822509 PMID:27826120 PMID:27838477 PMID:27843123 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28206745 PMID:28337550 PMID:28444220 PMID:28471437 PMID:28480171 PMID:28492532 PMID:28634151 PMID:28771251 PMID:28776642 PMID:28812649 PMID:28837072 PMID:28865037 PMID:28901595 PMID:28958595 PMID:29029963 PMID:29190809 PMID:29272804 PMID:29341116 PMID:29358615 PMID:29423831 PMID:29474836 PMID:29574624 PMID:29588995 PMID:29655203 PMID:29712893 PMID:29920680 PMID:29992832 PMID:30021052 PMID:30255931 PMID:30373890 PMID:30404819 PMID:30637288 PMID:30843307 PMID:30951992 PMID:31571979 PMID:31655921 PMID:31658717 PMID:31669236 PMID:32019516 PMID:32234506 PMID:32348839 PMID:32502631 PMID:33469851 PMID:34008892 PMID:34782754 PMID:35307828 More...
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NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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G |
Scn1b |
sodium voltage-gated channel beta subunit 1 |
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ISO |
ClinVar Annotator: match by term: Seizure |
ClinVar |
PMID:5421039 PMID:9461582 PMID:9539778 PMID:9697698 PMID:9894880 PMID:11254444 PMID:11263970 PMID:11866477 PMID:12011299 PMID:12486163 PMID:14504340 PMID:14690046 PMID:15671291 PMID:15710580 PMID:15857929 PMID:16205844 PMID:17020904 PMID:17928445 PMID:18941776 PMID:19522081 PMID:19710327 PMID:20226894 PMID:20437590 PMID:20628201 PMID:20662403 PMID:21994374 PMID:22292491 PMID:22425777 PMID:23182416 PMID:23527921 PMID:23584539 PMID:23861362 PMID:24065921 PMID:24529773 PMID:24567321 PMID:24605816 PMID:24623842 PMID:24662403 PMID:24747835 PMID:25253298 PMID:25326637 PMID:25668026 PMID:25741868 PMID:25827112 PMID:26042039 PMID:26467025 PMID:27207958 PMID:27216889 PMID:27277800 PMID:28331474 PMID:28492532 PMID:28837624 PMID:206282012 More...
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NCBI chr 1:86,353,917...86,363,820
Ensembl chr 1:86,353,917...86,363,739
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G |
Scn8a |
sodium voltage-gated channel alpha subunit 8 |
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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 PMID:32581362 More...
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NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292
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G |
Szt2 |
SZT2 subunit of KICSTOR complex |
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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 PMID:28492532 PMID:28556953 PMID:29358611 More...
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NCBI chr 5:131,897,250...131,943,953
Ensembl chr 5:131,897,275...131,943,904
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G |
Gli2 |
GLI family zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574
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G |
Gli3 |
GLI family zinc finger 3 |
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ISO |
ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
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G |
Pogz |
pogo transposable element derived with ZNF domain |
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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 PMID:24463507 PMID:24896178 PMID:25533962 PMID:25694107 PMID:25741868 PMID:26077850 PMID:26739615 PMID:26763879 PMID:26942287 PMID:27148570 PMID:28135719 PMID:28480548 PMID:28492532 PMID:28708303 PMID:29758562 PMID:31782611 PMID:31981491 PMID:33098347 PMID:33277917 PMID:33377604 PMID:33461977 PMID:34529370 PMID:34645992 PMID:35052493 PMID:35821784 PMID:35887114 More...
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NCBI chr 2:182,394,269...182,440,711
Ensembl chr 2:182,380,768...182,440,707
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G |
Rbmx |
RNA binding motif protein, X-linked |
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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 |
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NCBI chr X:135,305,237...135,314,806
Ensembl chr X:135,305,325...135,314,743
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