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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:familial periodic paralysis
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Accession:DOID:1029 term browser browse the term
Definition:A metal metabolism disorder that is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally, and that are caused by mutations in genes involved in the sodium and calcium channels in nerve cells. (DO)
Synonyms:exact_synonym: familial periodic paralyses;   normokalemic periodic paralyses;   normokalemic periodic paralysis
 primary_id: MESH:D010245
 xref: GARD:6422;   NCI:C84709
For additional species annotation, visit the Alliance of Genome Resources.

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
familial periodic paralysis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj2 potassium inwardly rectifying channel subfamily J member 2 ISO ClinVar Annotator: match by term: Familial periodic paralysis ClinVar PMID:17324964 PMID:19201608 PMID:22581653 NCBI chrNW_004955478:2,734,795...2,745,217
Ensembl chrNW_004955478:2,734,795...2,745,217 		JBrowse link
hyperkalemic periodic paralysis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd79b CD79b molecule ISO ClinVar Annotator: match by term: Hyperkalemic periodic paralysis ClinVar PMID:28492532 NCBI chrNW_004955478:7,909,353...7,912,814
Ensembl chrNW_004955478:7,909,153...7,913,166 		JBrowse link
G Cep95 centrosomal protein 95 ISO ClinVar Annotator: match by term: Hyperkalemic periodic paralysis ClinVar PMID:28492532 NCBI chrNW_004955478:7,337,966...7,366,135
Ensembl chrNW_004955478:7,338,106...7,366,072 		JBrowse link
G Clcn1 chloride voltage-gated channel 1 ISO ClinVar Annotator: match by term: Hyperkalemic periodic paralysis ClinVar NCBI chrNW_004955494:318,137...349,568
Ensembl chrNW_004955494:319,738...348,511 		JBrowse link
G Ddx5 DEAD-box helicase 5 ISO ClinVar Annotator: match by term: Hyperkalemic periodic paralysis ClinVar PMID:28492532 NCBI chrNW_004955478:7,367,049...7,375,043
Ensembl chrNW_004955478:7,366,956...7,376,358 		JBrowse link
G Ern1 endoplasmic reticulum to nucleus signaling 1 ISO ClinVar Annotator: match by term: Hyperkalemic periodic paralysis ClinVar PMID:28492532 NCBI chrNW_004955478:7,720,664...7,803,662
Ensembl chrNW_004955478:7,751,830...7,799,460 		JBrowse link
G Icam2 intercellular adhesion molecule 2 ISO ClinVar Annotator: match by term: Hyperkalemic periodic paralysis ClinVar PMID:28492532 NCBI chrNW_004955478:7,846,460...7,851,889
Ensembl chrNW_004955478:7,848,155...7,851,757 		JBrowse link
G Milr1 mast cell immunoglobulin like receptor 1 ISO ClinVar Annotator: match by term: Hyperkalemic periodic paralysis ClinVar PMID:28492532 NCBI chrNW_004955478:7,416,609...7,429,817 JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Hyperkalemic periodic paralysis ClinVar PMID:28492532 NCBI chrNW_004955478:7,448,584...7,531,860
Ensembl chrNW_004955478:7,478,492...7,531,188 		JBrowse link
G Polg2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Hyperkalemic periodic paralysis ClinVar PMID:28492532 NCBI chrNW_004955478:7,376,240...7,396,647
Ensembl chrNW_004955478:7,376,712...7,396,647 		JBrowse link
G Prr29 proline rich 29 ISO ClinVar Annotator: match by term: Hyperkalemic periodic paralysis ClinVar PMID:28492532 NCBI chrNW_004955478:7,851,993...7,857,147
Ensembl chrNW_004955478:7,847,903...7,854,667 		JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Familial hyperkalemic periodic paralysis | ClinVar Annotator: match by term: Gamstorp disease | ClinVar Annotator: match by term: Gamstorp episodic adynamy | ClinVar Annotator: match by term: Hyperkalemic periodic paralysis | ClinVar Annotator: match by term: Paramyotonia congenita/hyperkalemic periodic paralysis | ClinVar Annotator: match by term: SODIUM CHANNEL MUSCLE DISEASE
ClinVar Annotator: match by term: Adynamia episodica hereditaria with or without myotonia | ClinVar Annotator: match by term: Familial hyperkalemic periodic paralysis | ClinVar Annotator: match by term: Gamstorp disease | ClinVar Annotator: match by term: Gamstorp episodic adynamy | ClinVar Annotator: match by term: Hyperkalemic periodic paralysis | ClinVar Annotator: match by term: Paramyotonia congenita/hyperkalemic periodic paralysis | ClinVar Annotator: match by term: SODIUM CHANNEL MUSCLE DISEASE		 OMIM
ClinVar		 PMID:1310898 PMID:1316765 PMID:1338909 PMID:1659668 PMID:1659948 More... NCBI chrNW_004955478:7,861,585...7,906,192
Ensembl chrNW_004955478:7,861,585...7,906,192 		JBrowse link
G Smurf2 SMAD specific E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Hyperkalemic periodic paralysis ClinVar PMID:28492532 NCBI chrNW_004955478:7,205,266...7,336,390
Ensembl chrNW_004955478:7,270,055...7,336,390 		JBrowse link
G Tex2 testis expressed 2 ISO ClinVar Annotator: match by term: Hyperkalemic periodic paralysis ClinVar PMID:28492532 NCBI chrNW_004955478:7,616,196...7,689,136
Ensembl chrNW_004955478:7,616,196...7,691,871 		JBrowse link
hypokalemic periodic paralysis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1s calcium voltage-gated channel subunit alpha1 S ISO ClinVar Annotator: match by term: HypoPP | ClinVar Annotator: match by term: Hypokalemic periodic paralysis ClinVar PMID:1982519 PMID:7847370 PMID:7987325 PMID:9066893 PMID:9199552 More... NCBI chrNW_004955406:37,201,180...37,263,328
Ensembl chrNW_004955406:37,201,180...37,263,371 		JBrowse link
G Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 ISO RGD PMID:11207363 RGD:1600040 NCBI chrNW_004955414:17,166,537...17,200,385
Ensembl chrNW_004955414:17,166,546...17,200,353 		JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: HypoPP | ClinVar Annotator: match by term: Hypokalemic periodic paralysis ClinVar PMID:1310898 PMID:1338909 PMID:1659948 PMID:1918277 PMID:2173143 More... NCBI chrNW_004955478:7,861,585...7,906,192
Ensembl chrNW_004955478:7,861,585...7,906,192 		JBrowse link
Hypokalemic Periodic Paralysis, Type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipor1 adiponectin receptor 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:38,939,167...38,955,647
Ensembl chrNW_004955406:38,936,588...38,955,352 		JBrowse link
G Adora1 adenosine A1 receptor ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:39,148,811...39,183,577
Ensembl chrNW_004955406:39,149,689...39,187,688 		JBrowse link
G Arl8a ADP ribosylation factor like GTPase 8A ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:38,223,115...38,226,563
Ensembl chrNW_004955406:38,224,124...38,226,542 		JBrowse link
G Ascl5 achaete-scute family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:37,264,753...37,265,337 JBrowse link
G Atp2b4 ATPase plasma membrane Ca2+ transporting 4 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:39,552,034...39,645,694
Ensembl chrNW_004955406:39,552,019...39,645,694 		JBrowse link
G Avpr1b arginine vasopressin receptor 1B ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:41,706,088...41,716,173
Ensembl chrNW_004955406:41,705,305...41,716,173 		JBrowse link
G Btg2 BTG anti-proliferation factor 2 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:39,303,221...39,307,308
Ensembl chrNW_004955406:39,303,175...39,308,778 		JBrowse link
G C4bpa complement component 4 binding protein alpha ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:42,613,659...42,641,918
Ensembl chrNW_004955406:42,613,607...42,641,670 		JBrowse link
G C4bpb complement component 4 binding protein beta ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:42,601,164...42,608,912 JBrowse link
G Cacna1s calcium voltage-gated channel subunit alpha1 S ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis 1 | ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar
OMIM		 PMID:1982519 PMID:3037387 PMID:7650604 PMID:7847370 PMID:7897626 More... NCBI chrNW_004955406:37,201,180...37,263,328
Ensembl chrNW_004955406:37,201,180...37,263,371 		JBrowse link
G Camsap2 calmodulin regulated spectrin associated protein family member 2 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:36,958,337...37,055,748
Ensembl chrNW_004955406:36,957,523...37,055,748 		JBrowse link
G Cd34 CD34 molecule ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:43,116,688...43,130,405
Ensembl chrNW_004955406:43,117,816...43,130,463 		JBrowse link
G Cd46 CD46 molecule ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:43,002,817...43,034,555 JBrowse link
G Cd55 CD55 molecule (Cromer blood group) ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:42,773,368...42,796,205 JBrowse link
G Cdk18 cyclin dependent kinase 18 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:41,228,802...41,256,413
Ensembl chrNW_004955406:41,228,678...41,252,543 		JBrowse link
G Chi3l1 chitinase 3 like 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:39,195,101...39,201,808
Ensembl chrNW_004955406:39,191,073...39,202,020 		JBrowse link
G Chit1 chitinase 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:39,229,161...39,253,328
Ensembl chrNW_004955406:39,229,356...39,241,540 		JBrowse link
G Clcn1 chloride voltage-gated channel 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar NCBI chrNW_004955494:318,137...349,568
Ensembl chrNW_004955494:319,738...348,511 		JBrowse link
G Cntn2 contactin 2 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:40,831,897...40,862,445
Ensembl chrNW_004955406:40,831,850...40,858,569 		JBrowse link
G Cr2 complement C3d receptor 2 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:42,877,041...42,910,970
Ensembl chrNW_004955406:42,876,966...42,911,564 		JBrowse link
G Csrp1 cysteine and glycine rich protein 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:37,595,481...37,615,384
Ensembl chrNW_004955406:37,595,420...37,615,612 		JBrowse link
G Ctse cathepsin E ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:41,641,412...41,653,261
Ensembl chrNW_004955406:41,641,311...41,653,296 		JBrowse link
G Ddx59 DEAD-box helicase 59 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:36,861,420...36,885,746
Ensembl chrNW_004955406:36,861,259...36,885,746 		JBrowse link
G Dstyk dual serine/threonine and tyrosine protein kinase ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:40,922,972...40,971,433
Ensembl chrNW_004955406:40,922,972...40,971,582 		JBrowse link
G Dyrk3 dual specificity tyrosine phosphorylation regulated kinase 3 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:42,190,043...42,199,323
Ensembl chrNW_004955406:42,190,043...42,199,730 		JBrowse link
G Eif2d eukaryotic translation initiation factor 2D ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:42,163,508...42,181,482
Ensembl chrNW_004955406:42,163,632...42,181,337 		JBrowse link
G Elf3 E74 like ETS transcription factor 3 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:38,126,633...38,131,292
Ensembl chrNW_004955406:38,126,349...38,132,123 		JBrowse link
G Elk4 ETS transcription factor ELK4 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:41,325,921...41,333,503
Ensembl chrNW_004955406:41,325,921...41,334,359 		JBrowse link
G Etnk2 ethanolamine kinase 2 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:39,996,850...40,013,753
Ensembl chrNW_004955406:39,996,850...40,013,753 		JBrowse link
G Fam72a family with sequence similarity 72 member A ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:41,788,278...41,801,141 JBrowse link
G Fcamr Fc alpha and mu receptor ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:42,484,811...42,518,714
Ensembl chrNW_004955406:42,484,614...42,496,672 		JBrowse link
G Fcmr Fc mu receptor ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:42,438,173...42,452,339
Ensembl chrNW_004955406:42,438,783...42,452,163 		JBrowse link
G Fmod fibromodulin ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:39,328,743...39,340,113
Ensembl chrNW_004955406:39,328,743...39,340,258 		JBrowse link
G Golt1a golgi transport 1A ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:40,049,060...40,061,902
Ensembl chrNW_004955406:40,050,069...40,053,369 		JBrowse link
G Gpr25 G protein-coupled receptor 25 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:37,065,511...37,066,771
Ensembl chrNW_004955406:37,065,610...37,066,674 		JBrowse link
G Gpr37l1 G protein-coupled receptor 37 like 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:38,214,490...38,223,281
Ensembl chrNW_004955406:38,214,423...38,223,281 		JBrowse link
G Igfn1 immunoglobulin like and fibronectin type III domain containing 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:37,332,936...37,363,694 JBrowse link
G Ikbke inhibitor of nuclear factor kappa B kinase subunit epsilon ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:42,056,014...42,077,701
Ensembl chrNW_004955406:42,056,014...42,077,701 		JBrowse link
G Il10 interleukin 10 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779 		JBrowse link
G Il19 interleukin 19 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:42,376,102...42,384,902
Ensembl chrNW_004955406:42,376,104...42,384,902 		JBrowse link
G Il20 interleukin 20 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:42,398,510...42,401,561
Ensembl chrNW_004955406:42,398,782...42,401,490 		JBrowse link
G Il24 interleukin 24 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:42,431,845...42,437,392
Ensembl chrNW_004955406:42,432,795...42,437,016 		JBrowse link
G Inava innate immunity activator ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:37,086,302...37,107,221
Ensembl chrNW_004955406:37,086,302...37,107,221 		JBrowse link
G Ipo9 importin 9 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:37,898,415...37,946,991
Ensembl chrNW_004955406:37,897,864...37,946,991 		JBrowse link
G Kdm5b lysine demethylase 5B ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:38,755,220...38,823,094
Ensembl chrNW_004955406:38,755,220...38,823,088 		JBrowse link
G Kif14 kinesin family member 14 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:36,732,135...36,791,756
Ensembl chrNW_004955406:36,737,484...36,791,756 		JBrowse link
G Kif21b kinesin family member 21B ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:37,139,168...37,187,543
Ensembl chrNW_004955406:37,139,168...37,187,543 		JBrowse link
G Kiss1 KiSS-1 metastasis suppressor ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:40,043,139...40,045,973
Ensembl chrNW_004955406:40,043,133...40,045,386 		JBrowse link
G Klhdc8a kelch domain containing 8A ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:41,080,154...41,087,381
Ensembl chrNW_004955406:41,077,925...41,087,574 		JBrowse link
G Klhl12 kelch like family member 12 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:38,903,233...38,931,756
Ensembl chrNW_004955406:38,900,022...38,931,374 		JBrowse link
G Lad1 ladinin 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:37,510,675...37,526,178
Ensembl chrNW_004955406:37,510,298...37,526,225 		JBrowse link
G Lax1 lymphocyte transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:39,656,549...39,667,448
Ensembl chrNW_004955406:39,656,128...39,670,244 		JBrowse link
G Lemd1 LEM domain containing 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:41,126,284...41,181,007
Ensembl chrNW_004955406:41,126,359...41,153,742 		JBrowse link
G Lgr6 leucine rich repeat containing G protein-coupled receptor 6 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:38,274,998...38,381,677
Ensembl chrNW_004955406:38,274,958...38,383,822 		JBrowse link
G Lmod1 leiomodin 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:37,967,098...38,012,908
Ensembl chrNW_004955406:37,964,643...38,013,405 		JBrowse link
G LOC102004351 NADH-cytochrome b5 reductase 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:38,958,766...38,964,597
Ensembl chrNW_004955406:38,955,997...38,965,127 		JBrowse link
G LOC102027268 chromosome unknown open reading frame, human C1orf116 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:42,537,925...42,573,168
Ensembl chrNW_004955406:42,525,252...42,558,003 		JBrowse link
G Lrrn2 leucine rich repeat neuronal 2 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:40,442,680...40,499,945 JBrowse link
G Mapkapk2 MAPK activated protein kinase 2 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:42,231,858...42,276,477
Ensembl chrNW_004955406:42,231,858...42,276,477 		JBrowse link
G Mdm4 MDM4 regulator of p53 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:40,346,617...40,387,977
Ensembl chrNW_004955406:40,346,588...40,387,977 		JBrowse link
G Mfsd4a major facilitator superfamily domain containing 4A ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:41,286,679...41,315,666
Ensembl chrNW_004955406:41,286,679...41,322,158 		JBrowse link
G Mybph myosin binding protein H ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:39,174,864...39,191,969
Ensembl chrNW_004955406:39,184,691...39,191,741 		JBrowse link
G Myog myogenin ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:39,099,044...39,102,479
Ensembl chrNW_004955406:39,099,716...39,102,501 		JBrowse link
G Nav1 neuron navigator 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:37,644,715...37,896,759
Ensembl chrNW_004955406:37,644,421...37,890,151 		JBrowse link
G Nfasc neurofascin ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:40,632,971...40,814,930
Ensembl chrNW_004955406:40,743,872...40,808,962 		JBrowse link
G Nuak2 NUAK family kinase 2 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:41,050,396...41,069,066
Ensembl chrNW_004955406:41,051,419...41,069,066 		JBrowse link
G Nucks1 nuclear casein kinase and cyclin dependent kinase substrate 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:41,412,855...41,448,551
Ensembl chrNW_004955406:41,417,983...41,449,177 		JBrowse link
G Optc opticin ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:39,446,875...39,458,571
Ensembl chrNW_004955406:39,445,677...39,453,906 		JBrowse link
G Pfkfb2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:42,573,210...42,601,994
Ensembl chrNW_004955406:42,574,450...42,598,109 		JBrowse link
G Phlda3 pleckstrin homology like domain family A member 3 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:37,579,006...37,582,230
Ensembl chrNW_004955406:37,579,006...37,582,230 		JBrowse link
G Pigr polymeric immunoglobulin receptor ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:42,456,450...42,474,489
Ensembl chrNW_004955406:42,453,080...42,474,694 		JBrowse link
G Pik3c2b phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:40,247,690...40,317,556
Ensembl chrNW_004955406:40,247,382...40,317,556 		JBrowse link
G Pkp1 plakophilin 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:37,420,019...37,465,588
Ensembl chrNW_004955406:37,419,856...37,465,655 		JBrowse link
G Plekha6 pleckstrin homology domain containing A6 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:40,066,260...40,200,629
Ensembl chrNW_004955406:40,066,206...40,134,597 		JBrowse link
G Plxna2 plexin A2 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955489:3,914,137...4,116,780
Ensembl chrNW_004955489:3,914,633...4,116,825 		JBrowse link
G Pm20d1 peptidase M20 domain containing 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:41,522,800...41,544,332
Ensembl chrNW_004955406:41,518,526...41,544,348 		JBrowse link
G Ppfia4 PTPRF interacting protein alpha 4 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:39,047,069...39,094,663
Ensembl chrNW_004955406:39,047,019...39,092,597 		JBrowse link
G Ppp1r12b protein phosphatase 1 regulatory subunit 12B ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:38,405,297...38,636,503
Ensembl chrNW_004955406:38,405,535...38,629,688 		JBrowse link
G Ppp1r15b protein phosphatase 1 regulatory subunit 15B ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:40,232,516...40,238,711
Ensembl chrNW_004955406:40,232,607...40,238,901 		JBrowse link
G Prelp proline and arginine rich end leucine rich repeat protein ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:39,429,845...39,442,577
Ensembl chrNW_004955406:39,429,690...39,443,299 		JBrowse link
G Ptpn7 protein tyrosine phosphatase non-receptor type 7 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:38,233,409...38,249,940
Ensembl chrNW_004955406:38,232,589...38,250,195 		JBrowse link
G Rab29 RAB29, member RAS oncogene family ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:41,452,733...41,468,467
Ensembl chrNW_004955406:41,462,534...41,468,948 		JBrowse link
G Rabif RAB interacting factor ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:38,883,050...38,893,012
Ensembl chrNW_004955406:38,883,050...38,893,251 		JBrowse link
G Rassf5 Ras association domain family member 5 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:42,086,081...42,159,204
Ensembl chrNW_004955406:42,086,081...42,159,204 		JBrowse link
G Rbbp5 RB binding protein 5, histone lysine methyltransferase complex subunit ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:40,868,290...40,904,343
Ensembl chrNW_004955406:40,867,527...40,904,349 		JBrowse link
G Ren renin ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:40,016,624...40,026,286
Ensembl chrNW_004955406:40,016,630...40,026,286 		JBrowse link
G Rhex regulator of hemoglobinization and erythroid cell expansion ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:41,687,577...41,703,282
Ensembl chrNW_004955406:41,687,455...41,705,014 		JBrowse link
G Rnpep arginyl aminopeptidase ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:38,103,701...38,122,162
Ensembl chrNW_004955406:38,103,426...38,122,358 		JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:1310898 PMID:1316765 PMID:1338909 PMID:1659668 PMID:1659948 More... NCBI chrNW_004955478:7,861,585...7,906,192
Ensembl chrNW_004955478:7,861,585...7,906,192 		JBrowse link
G Shisa4 shisa family member 4 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:37,959,156...37,961,972
Ensembl chrNW_004955406:37,957,326...37,962,468 		JBrowse link
G Slc25a26 solute carrier family 25 member 26 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:25741868 NCBI chrNW_004955421:21,220,071...21,334,330
Ensembl chrNW_004955421:21,219,904...21,342,260 		JBrowse link
G Slc26a9 solute carrier family 26 member 9 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:41,559,424...41,587,748
Ensembl chrNW_004955406:41,557,275...41,582,753 		JBrowse link
G Slc41a1 solute carrier family 41 member 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:41,481,831...41,502,992
Ensembl chrNW_004955406:41,481,831...41,502,992 		JBrowse link
G Slc45a3 solute carrier family 45 member 3 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:41,362,077...41,381,981
Ensembl chrNW_004955406:41,360,380...41,382,115 		JBrowse link
G Snrpe small nuclear ribonucleoprotein polypeptide E ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:39,725,841...39,732,527
Ensembl chrNW_004955406:39,725,446...39,734,586 		JBrowse link
G Sox13 SRY-box transcription factor 13 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:39,959,458...39,994,214
Ensembl chrNW_004955406:39,966,055...39,994,214 		JBrowse link
G Srgap2 SLIT-ROBO Rho GTPase activating protein 2 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:41,801,235...42,050,731
Ensembl chrNW_004955406:41,801,235...42,050,731 		JBrowse link
G Syt2 synaptotagmin 2 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:38,638,192...38,743,077
Ensembl chrNW_004955406:38,643,911...38,743,222 		JBrowse link
G Timm17a translocase of inner mitochondrial membrane 17A ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:38,020,886...38,031,651
Ensembl chrNW_004955406:38,020,850...38,031,651 		JBrowse link
G Tmcc2 transmembrane and coiled-coil domain family 2 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:40,985,771...41,025,929
Ensembl chrNW_004955406:40,985,478...41,025,955 		JBrowse link
G Tmem183a transmembrane protein 183A ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:39,029,390...39,044,502
Ensembl chrNW_004955406:39,029,390...39,046,339 		JBrowse link
G Tmem81 transmembrane protein 81 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:40,865,574...40,867,602 JBrowse link
G Tmem9 transmembrane protein 9 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:37,279,885...37,299,196
Ensembl chrNW_004955406:37,279,694...37,314,251 		JBrowse link
G Tnni1 troponin I1, slow skeletal type ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:37,535,397...37,554,868
Ensembl chrNW_004955406:37,534,453...37,554,868 		JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:37,491,462...37,507,360
Ensembl chrNW_004955406:37,487,154...37,507,639 		JBrowse link
G Ube2t ubiquitin conjugating enzyme E2 T ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:38,391,824...38,400,946
Ensembl chrNW_004955406:38,391,785...38,400,995 		JBrowse link
G Zbed6 zinc finger BED-type containing 6 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:39,679,365...39,683,454
Ensembl chrNW_004955406:39,680,253...39,683,192 		JBrowse link
G Zc3h11a zinc finger CCCH-type containing 11A ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chrNW_004955406:39,678,544...39,718,062 JBrowse link
Hypokalemic Periodic Paralysis, Type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 2 OMIM
ClinVar		 PMID:1310898 PMID:1316765 PMID:1338909 PMID:1659948 PMID:1918277 More... NCBI chrNW_004955478:7,861,585...7,906,192
Ensembl chrNW_004955478:7,861,585...7,906,192 		JBrowse link
Normokalemic Periodic Paralysis, Potassium-Sensitive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Normokalemic periodic paralysis, potassium-sensitive ClinVar PMID:15596759 PMID:18046642 PMID:19052238 PMID:19065518 PMID:19201608 More... NCBI chrNW_004955478:7,861,585...7,906,192
Ensembl chrNW_004955478:7,861,585...7,906,192 		JBrowse link
Thyrotoxic Periodic Paralysis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1s calcium voltage-gated channel subunit alpha1 S ISO ClinVar Annotator: match by term: Thyrotoxic periodic paralysis, susceptibility to, 1 ClinVar
OMIM		 PMID:7847370 PMID:7987325 PMID:9066893 PMID:9199552 PMID:9536098 More... NCBI chrNW_004955406:37,201,180...37,263,328
Ensembl chrNW_004955406:37,201,180...37,263,371 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      musculoskeletal system disease 7251
        muscular disease 2001
          familial periodic paralysis 121
            Normokalemic Periodic Paralysis, Potassium-Sensitive 1
            hyperkalemic periodic paralysis 13
            hypokalemic periodic paralysis + 109
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        peripheral nervous system disease 3827
          neuropathy 3646
            neuromuscular disease 2848
              muscular disease 2001
                familial periodic paralysis 121
                  Normokalemic Periodic Paralysis, Potassium-Sensitive 1
                  hyperkalemic periodic paralysis 13
                  hypokalemic periodic paralysis + 109
paths to the root