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GENE - TERM ANNOTATION REPORT

106 Annotations Found.

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8624314 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:17347258 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8624353 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:17561957 PMID:18930999 PMID:25741868 PMID:26096185 PMID:28492532 PMID:29460957

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8624406 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:20431604 PMID:26096185 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8640567 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:11940708 PMID:17347258 PMID:17537961 PMID:18930999 PMID:24155976 PMID:24502503 PMID:25741868 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:10054651 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:17054684 PMID:17347258 PMID:18930999 PMID:22409937 PMID:25741868 PMID:26096185 PMID:26467025 PMID:28492532 PMID:30368457

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8624418 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:18031552 PMID:18414213 PMID:25741868 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:151741991 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:17347258 PMID:18930999 PMID:23195492 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:38478815 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:17576681 PMID:25741868 PMID:28492532 PMID:34338318 PMID:9536098

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8602045 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:21555645 PMID:27113213 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8624340 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:17347258 PMID:19359143 PMID:19589774 PMID:25741868 PMID:27864847 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:10050412 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:11254445 PMID:25741868 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8591780 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:18414213 PMID:18930999 PMID:25741868 PMID:26467025 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8624356 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:11254444 PMID:18056581 PMID:18413471 PMID:18930999 PMID:21713554 PMID:25741868 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:10408949 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:17576681 PMID:21425109 PMID:26467025 PMID:28492532 PMID:9536098

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8624316 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:18930999 PMID:19522081 PMID:20729507 PMID:25741868 PMID:26990884 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:13818321 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:24679980 PMID:25741868 PMID:28492532 PMID:31031587

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:21070837 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:21248271 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:12883609 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:17576681 PMID:22140375 PMID:28492532 PMID:31864146 PMID:9536098

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8624432 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:14738421 PMID:19586930 PMID:25741868 PMID:28202706 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8624453 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:14504318 PMID:25741868 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8624333 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:17347258 PMID:25741868 PMID:28202706 PMID:28492532 PMID:30619928

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:10396758 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:11940708 PMID:14504318 PMID:17054684 PMID:17347258 PMID:18930999 PMID:19589774 PMID:24168886 PMID:25326635 PMID:25741868 PMID:26169758 PMID:26467025 PMID:26544041 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8624442 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:20600615 PMID:25741868 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8624407 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:20117752 PMID:25741868 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8624417 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:20522430 PMID:26467025 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8624319 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:12083760 PMID:17347258 PMID:18554359 PMID:20431604 PMID:22780858 PMID:23762420 PMID:25741868 PMID:26096185 PMID:28186331 PMID:28492532 PMID:29141279 PMID:30182498

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:10054653 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:11359211 PMID:14504318 PMID:17054684 PMID:18930999 PMID:21719429 PMID:25741868 PMID:26096185 PMID:26993267 PMID:28492532 PMID:32581362

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:13520517 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:18930999 PMID:23884151 PMID:24066114 PMID:24136861 PMID:25741868 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:13470612 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:17347258 PMID:18930999 PMID:26467025 PMID:28012175 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8624352 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:17347258 PMID:19589774 PMID:22071555 PMID:25741868 PMID:26096185 PMID:28492532 PMID:30321769

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8624413 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:12083760 PMID:12754708 PMID:18076640 PMID:25741868 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:10054660 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:14738421 PMID:19809937 PMID:25741868 PMID:26096185 PMID:27465585 PMID:28492532 PMID:29141279

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8624398 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:11254445 PMID:18021921 PMID:21396429 PMID:22550089 PMID:22780858 PMID:23398611 PMID:24679980 PMID:25741868 PMID:26990884 PMID:28492532 PMID:29358611 PMID:31765958

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8624335 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:17347258 PMID:17903680 PMID:18930999 PMID:19585586 PMID:19586930 PMID:21248271 PMID:22156295 PMID:23527921 PMID:23917401 PMID:24328833 PMID:25741868 PMID:26188943 PMID:26467025 PMID:27465585 PMID:27781031 PMID:28492532 PMID:32238909

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:10054601 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:12566275 PMID:17347258 PMID:18930999 PMID:23195492 PMID:23934111 PMID:24168886 PMID:25741868 PMID:26096185 PMID:26232052 PMID:26467025 PMID:28492532 PMID:29186148

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:13509000 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:17054684 PMID:25741868 PMID:26467025 PMID:27197941 PMID:28492532 PMID:29408779 PMID:31069529

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:12899281 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:25741868 PMID:28202706 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8624420 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:18930999 PMID:19563458 PMID:20452746 PMID:22848613 PMID:25741868 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:155938870 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:12821740 PMID:17054684 PMID:18930999 PMID:25741868 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:10054610 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:17054684 PMID:18930999 PMID:21248271 PMID:21868258 PMID:25741868 PMID:26096185 PMID:26467025 PMID:28202706 PMID:28492532 PMID:30034362

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:10396753 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:25741868 PMID:28492532 PMID:29948376

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:9688397 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:12821740 PMID:17054684 PMID:17347258 PMID:18930999 PMID:21906962 PMID:25741868 PMID:26096185 PMID:26467025 PMID:26544041 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8624320 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:16713920 PMID:17347258 PMID:19589774 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:21070822 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:22071555 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8563367 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:12566275 PMID:15277629 PMID:16210358 PMID:28202706 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:10054635 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:11940708 PMID:17054684 PMID:19563349 PMID:25741868 PMID:26096185 PMID:27465585 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8624334 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Early myoclonic encephalopathy
Original References(s): PMID:17561957 PMID:25818041 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8624315 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:17054684 PMID:21906962 PMID:25741868 PMID:28202706 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8624451 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:12083760 PMID:15277629 PMID:17054685 PMID:18076640 PMID:21248271 PMID:25741868 PMID:28102150 PMID:28492532 PMID:28708303

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:10054665 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:23934111 PMID:26096185 PMID:28492532 PMID:29655203

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:10398046 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:17576681 PMID:21248271 PMID:23195492 PMID:26467025 PMID:28492532 PMID:29655203 PMID:33278787 PMID:9536098

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8624351 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:12821740 PMID:17054684 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:26912790 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:21248271 PMID:25741868 PMID:28492532 PMID:30321769

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:10054595 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:17347258 PMID:18930999 PMID:20431604 PMID:26096185 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:10054585 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:17054684 PMID:25754450 PMID:26096185 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:13822053 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:28492532 PMID:31864146 PMID:33674996

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:13816436 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Early myoclonic encephalopathy
Original References(s): PMID:17576681 PMID:25459969 PMID:25741868 PMID:28492532 PMID:9536098

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8624312 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:18413471 PMID:28492532 PMID:30945278

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8624336 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:17561957 PMID:23195492 PMID:25741868 PMID:26096185 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:10054681 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:26096185 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:10054715 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:25741868 PMID:26096185 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8624425 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:17561957 PMID:18930999 PMID:20522430 PMID:25741868 PMID:26096185 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8624431 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:14738421 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:10396776 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Early myoclonic encephalopathy
Original References(s): PMID:25741868 PMID:28492532 PMID:28518168 PMID:32461654

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:10398036 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:17347258 PMID:18930999 PMID:19673951 PMID:21248271 PMID:25741868 PMID:25754450 PMID:26467025 PMID:28488083 PMID:28492532 PMID:31164858 PMID:31864146

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8624412 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:18554359 PMID:20431604 PMID:20729507 PMID:21248271 PMID:23762420 PMID:26096185 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:13470900 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:18804930 PMID:18930999 PMID:21248271 PMID:24136861 PMID:24328833 PMID:25348405 PMID:25741868 PMID:26188943 PMID:26467025 PMID:28202706 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:10054661 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:25741868 PMID:26096185 PMID:28492532 PMID:31780880 PMID:9573403

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:126911278 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:11940708 PMID:17347258 PMID:18930999 PMID:25741868 PMID:28492532 PMID:31864146

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:10054703 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:17054684 PMID:17347258 PMID:18930999 PMID:22409937 PMID:26096185 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8563359 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:10486327 PMID:10742094 PMID:11118488 PMID:12086636 PMID:14702334 PMID:18930999 PMID:20100831 PMID:20522430 PMID:25378155 PMID:27267376 PMID:28492532 PMID:29760947 PMID:30525188 PMID:30659983

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:127261072 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:25741868 PMID:28492532 PMID:34015165

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:38481266 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:16199547 PMID:17347258 PMID:18930999 PMID:23195492 PMID:25741868 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:10054714 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:17347258 PMID:18930999 PMID:21868258 PMID:26096185 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:155643254 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:25741868 PMID:28492532 PMID:31001185

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:21070849 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:16199547 PMID:17347258 PMID:18930999 PMID:28492532 PMID:29655203

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:10054641 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:14504318 PMID:16199547 PMID:17347258 PMID:18930999 PMID:23808377 PMID:25741868 PMID:26096185 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:10396764 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:23195492 PMID:25741868 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:10396752 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:19522081 PMID:21719429 PMID:25741868 PMID:26990884 PMID:28492532 PMID:31009440

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:21070862 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:16199547 PMID:17347258 PMID:18930999 PMID:21248271 PMID:25741868 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8624317 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:18413471 PMID:18554359 PMID:26096185 PMID:28492532 PMID:34268891

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8624339 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:17347258 PMID:19589774 PMID:25741868 PMID:26633542 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:12907000 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:17576681 PMID:19350499 PMID:20431604 PMID:25741868 PMID:26467025 PMID:28492532 PMID:36158059 PMID:9536098

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8625178 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:25741868 PMID:28492532 PMID:29655203

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:26903808 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:25741868 PMID:28492532 PMID:31001185 PMID:32573669

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:10054650 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:16458823 PMID:17347258 PMID:18930999 PMID:19522081 PMID:20879882 PMID:21248271 PMID:23195492 PMID:25741868 PMID:26096185 PMID:26467025 PMID:27465585 PMID:28079314 PMID:28492532 PMID:28837158 PMID:29981888 PMID:31031587 PMID:32090326 PMID:35074891

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:10054728 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:25741868 PMID:26096185 PMID:28488083 PMID:28492532 PMID:29930392 PMID:31618474

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:10054765 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:21248271 PMID:26096185 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:10396772 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:28492532 PMID:32593896

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8624338 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:17561957 PMID:23195492 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:10396720|RGD:10396759|RGD:10398024|RGD:13465784|RGD:13523654|RGD:13620279|RGD:14688289|RGD:14736998|RGD:150330413|RGD:156436066|RGD:26915541|RGD:38470388|RGD:401941818|RGD:8640579 (Homo sapiens) & RGD:10396720|RGD:10396759|RGD:10398024|RGD:13465784|RGD:13523654|RGD:13620279|RGD:14688289|RGD:14736998|RGD:150330413|RGD:156436066|RGD:26915541|RGD:38470388|RGD:401941818|RGD:8640579 (Homo sapiens) & RGD:10396720|RGD:10396759|RGD:10398024|RGD:13465784|RGD:13523654|RGD:13620279|RGD:14688289|RGD:14736998|RGD:150330413|RGD:156436066|RGD:26915541|RGD:38470388|RGD:401941818|RGD:8640579 (Homo sapiens) & RGD:10396720|RGD:10396759|RGD:10398024|RGD:13465784|RGD:13523654|RGD:13620279|RGD:14688289|RGD:14736998|RGD:150330413|RGD:156436066|RGD:26915541|RGD:38470388|RGD:401941818|RGD:8640579 (Homo sapiens) & RGD:10396720|RGD:10396759|RGD:10398024|RGD:13465784|RGD:13523654|RGD:13620279|RGD:14688289|RGD:14736998|RGD:150330413|RGD:156436066|RGD:26915541|RGD:38470388|RGD:401941818|RGD:8640579 (Homo sapiens) & RGD:10396720|RGD:10396759|RGD:10398024|RGD:13465784|RGD:13523654|RGD:13620279|RGD:14688289|RGD:14736998|RGD:150330413|RGD:156436066|RGD:26915541|RGD:38470388|RGD:401941818|RGD:8640579 (Homo sapiens) & RGD:10396720|RGD:10396759|RGD:10398024|RGD:13465784|RGD:13523654|RGD:13620279|RGD:14688289|RGD:14736998|RGD:150330413|RGD:156436066|RGD:26915541|RGD:38470388|RGD:401941818|RGD:8640579 (Homo sapiens) & RGD:10396720|RGD:10396759|RGD:10398024|RGD:13465784|RGD:13523654|RGD:13620279|RGD:14688289|RGD:14736998|RGD:150330413|RGD:156436066|RGD:26915541|RGD:38470388|RGD:401941818|RGD:8640579 (Homo sapiens) & RGD:10396720|RGD:10396759|RGD:10398024|RGD:13465784|RGD:13523654|RGD:13620279|RGD:14688289|RGD:14736998|RGD:150330413|RGD:156436066|RGD:26915541|RGD:38470388|RGD:401941818|RGD:8640579 (Homo sapiens) & RGD:10396720|RGD:10396759|RGD:10398024|RGD:13465784|RGD:13523654|RGD:13620279|RGD:14688289|RGD:14736998|RGD:150330413|RGD:156436066|RGD:26915541|RGD:38470388|RGD:401941818|RGD:8640579 (Homo sapiens) & RGD:10396720|RGD:10396759|RGD:10398024|RGD:13465784|RGD:13523654|RGD:13620279|RGD:14688289|RGD:14736998|RGD:150330413|RGD:156436066|RGD:26915541|RGD:38470388|RGD:401941818|RGD:8640579 (Homo sapiens) & RGD:10396720|RGD:10396759|RGD:10398024|RGD:13465784|RGD:13523654|RGD:13620279|RGD:14688289|RGD:14736998|RGD:150330413|RGD:156436066|RGD:26915541|RGD:38470388|RGD:401941818|RGD:8640579 (Homo sapiens) & RGD:10396720|RGD:10396759|RGD:10398024|RGD:13465784|RGD:13523654|RGD:13620279|RGD:14688289|RGD:14736998|RGD:150330413|RGD:156436066|RGD:26915541|RGD:38470388|RGD:401941818|RGD:8640579 (Homo sapiens) & RGD:10396720|RGD:10396759|RGD:10398024|RGD:13465784|RGD:13523654|RGD:13620279|RGD:14688289|RGD:14736998|RGD:150330413|RGD:156436066|RGD:26915541|RGD:38470388|RGD:401941818|RGD:8640579 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:25741868 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:21070834 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:17347258 PMID:18930999 PMID:28492532 PMID:28664031

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:126916523|RGD:13506331|RGD:13811846|RGD:13822598|RGD:150468957|RGD:150520590|RGD:21070827 (Homo sapiens) & RGD:126916523|RGD:13506331|RGD:13811846|RGD:13822598|RGD:150468957|RGD:150520590|RGD:21070827 (Homo sapiens) & RGD:126916523|RGD:13506331|RGD:13811846|RGD:13822598|RGD:150468957|RGD:150520590|RGD:21070827 (Homo sapiens) & RGD:126916523|RGD:13506331|RGD:13811846|RGD:13822598|RGD:150468957|RGD:150520590|RGD:21070827 (Homo sapiens) & RGD:126916523|RGD:13506331|RGD:13811846|RGD:13822598|RGD:150468957|RGD:150520590|RGD:21070827 (Homo sapiens) & RGD:126916523|RGD:13506331|RGD:13811846|RGD:13822598|RGD:150468957|RGD:150520590|RGD:21070827 (Homo sapiens) & RGD:126916523|RGD:13506331|RGD:13811846|RGD:13822598|RGD:150468957|RGD:150520590|RGD:21070827 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:13509331 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:25741868 PMID:27652284 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8624313|RGD:8624322|RGD:8624350 (Homo sapiens) & RGD:8624313|RGD:8624322|RGD:8624350 (Homo sapiens) & RGD:8624313|RGD:8624322|RGD:8624350 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:17054684 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8624332 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:17347258 PMID:25741868 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8624419 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:18930999 PMID:20431604 PMID:26096185 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:10054723|RGD:10054732 (Homo sapiens) & RGD:10054723|RGD:10054732 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:17347258 PMID:18930999 PMID:26096185 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8624326 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:17054684 PMID:25741868 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:151235661 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:16199547 PMID:17347258 PMID:18930999 PMID:21248271 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:10408956 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:17347258 PMID:22409937 PMID:26467025 PMID:28202706 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11051355 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:28492532 PMID:28554332 PMID:30526861 PMID:33411788 PMID:34107977

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8624423 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:10742094 PMID:12083760 PMID:15263074 PMID:20522430 PMID:23086956 PMID:26467025 PMID:28492532

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8624446 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:12919402 PMID:25741868 PMID:26096185 PMID:28492532 PMID:31019026

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:155268545 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:17347258 PMID:18930999 PMID:25741868 PMID:28492532 PMID:32702657

An association has been curated linking SCN1A-AS1 and early myoclonic encephalopathy in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:41407248 (Homo sapiens)
18 RGD objects have been annotated to early myoclonic encephalopathy  (DOID:308)
0 papers in RGD have been used to annotate SCN1A-AS1
Curation Notes: ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
Original References(s): PMID:28492532 PMID:29142202

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