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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.


show annotations for term's descendants           Sort by:
familial periodic paralysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO DNA:missense mutation:192T>A (human)
ClinVar Annotator: match by term: Familial periodic paralysis		 ClinVar
RGD		 PMID:17324964 PMID:19201608 PMID:22581653 PMID:12045162 RGD:1580802 NCBI chr10:96,060,834...96,071,397
Ensembl chr10:96,060,821...96,071,445 		JBrowse link
hyperkalemic periodic paralysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd79b CD79b molecule ISO ClinVar Annotator: match by term: Familial hyperkalemic periodic paralysis ClinVar PMID:28492532 NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625 		JBrowse link
G Cep95 centrosomal protein 95 ISO ClinVar Annotator: match by term: Familial hyperkalemic periodic paralysis ClinVar PMID:28492532 NCBI chr10:91,732,111...91,760,095
Ensembl chr10:91,732,111...91,760,092 		JBrowse link
G Clcn1 chloride voltage-gated channel 1 ISO ClinVar Annotator: match by term: Familial hyperkalemic periodic paralysis ClinVar NCBI chr 4:71,171,949...71,201,483
Ensembl chr 4:71,172,547...71,199,984 		JBrowse link
G Ddx5 DEAD-box helicase 5 ISO ClinVar Annotator: match by term: Familial hyperkalemic periodic paralysis ClinVar PMID:28492532 NCBI chr10:91,723,508...91,732,210
Ensembl chr10:91,723,508...91,732,283 		JBrowse link
G Ern1 endoplasmic reticulum to nucleus signaling 1 ISO ClinVar Annotator: match by term: Familial hyperkalemic periodic paralysis ClinVar PMID:28492532 NCBI chr10:91,326,889...91,421,201
Ensembl chr10:91,330,654...91,421,029 		JBrowse link
G Icam2 intercellular adhesion molecule 2 ISO ClinVar Annotator: match by term: Familial hyperkalemic periodic paralysis ClinVar PMID:28492532 NCBI chr10:91,308,608...91,319,536
Ensembl chr10:91,308,538...91,315,293 		JBrowse link
G Lrrc37a leucine rich repeat containing 37A ISO ClinVar Annotator: match by term: Familial hyperkalemic periodic paralysis ClinVar PMID:28492532 NCBI chr10:88,395,837...88,433,519
Ensembl chr10:88,396,663...88,433,323 		JBrowse link
G Milr1 mast cell immunoglobulin-like receptor 1 ISO ClinVar Annotator: match by term: Familial hyperkalemic periodic paralysis ClinVar PMID:28492532 NCBI chr10:91,684,288...91,705,284
Ensembl chr10:91,687,831...91,705,282 		JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Familial hyperkalemic periodic paralysis ClinVar PMID:28492532 NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116 		JBrowse link
G Polg2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Familial hyperkalemic periodic paralysis ClinVar PMID:28492532 NCBI chr10:91,712,586...91,723,008
Ensembl chr10:91,712,586...91,723,008 		JBrowse link
G Prr29 proline rich 29 ISO ClinVar Annotator: match by term: Familial hyperkalemic periodic paralysis ClinVar PMID:28492532 NCBI chr10:91,305,820...91,320,661
Ensembl chr10:91,305,723...91,310,439 		JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO
ISS		 OMIM:170500
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: Paramyotonia congenita/hyperkalemic periodic paralysis | ClinVar Annotator: match by term: SODIUM CHANNEL MUSCLE DISEASE
DNA: missense mutation: exon 13 : p.T704M
CTD Direct Evidence: marker/mechanism		 OMIM
MouseDO
ClinVar
CTD
RGD		 PMID:1310898 PMID:1316765 PMID:1338909 PMID:1659668 PMID:1659948 More... RGD:13208536 NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545 		JBrowse link
G Smurf2 SMAD specific E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Familial hyperkalemic periodic paralysis ClinVar PMID:28492532 NCBI chr10:91,761,798...91,862,485
Ensembl chr10:91,761,807...91,862,488 		JBrowse link
G Tex2 testis expressed 2 ISO ClinVar Annotator: match by term: Familial hyperkalemic periodic paralysis ClinVar PMID:28492532 NCBI chr10:91,436,629...91,546,240
Ensembl chr10:91,436,694...91,546,270 		JBrowse link
hypokalemic periodic paralysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1s calcium voltage-gated channel subunit alpha1 S ISO
ISS		 DNA, protein:missense mutations:cds:p.R528H,R1239H (human)
OMIM:170400 | OMIM:613345
ClinVar Annotator: match by term: HypoPP | ClinVar Annotator: match by term: Hypokalemic periodic paralysis
CTD Direct Evidence: marker/mechanism		 MouseDO
ClinVar
CTD
RGD		 PMID:1982519 PMID:9199552 PMID:9536098 PMID:10590402 PMID:11260227 More... RGD:1300372 NCBI chr13:47,493,949...47,564,194
Ensembl chr13:47,493,949...47,564,318 		JBrowse link
G Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 ISO RGD PMID:11207363 RGD:1600040 NCBI chr 1:154,523,903...154,530,865
Ensembl chr 1:154,523,830...154,532,020 		JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:170400 | OMIM:613345
ClinVar Annotator: match by term: HypoPP | ClinVar Annotator: match by term: Hypokalemic periodic paralysis		 CTD
MouseDO
ClinVar		 PMID:1310898 PMID:7533571 PMID:7809121 PMID:8044656 PMID:8583225 More... NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545 		JBrowse link
Hypokalemic Periodic Paralysis, Type 1 term browser
Symbol Object Name Qualifiers 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 chr13:45,859,461...45,879,248
Ensembl chr13:45,859,533...45,879,241 		JBrowse link
G Adora1 adenosine A1 receptor ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:45,658,872...45,695,821
Ensembl chr13:45,658,872...45,695,801 		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 chr13:46,585,845...46,594,851
Ensembl chr13:46,585,845...46,594,851 		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 chr13:47,491,799...47,493,269
Ensembl chr13:47,492,026...47,492,592 		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 chr13:45,156,137...45,255,292
Ensembl chr13:45,156,146...45,255,246 		JBrowse link
G Avpr1b arginine vasopressin receptor 1B ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:43,046,531...43,059,046
Ensembl chr13:43,046,267...43,057,792 		JBrowse link
G Btg2 BTG anti-proliferation factor 2 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:45,531,881...45,535,642
Ensembl chr13:45,531,925...45,535,628 		JBrowse link
G C13h1orf116 similar to human chromosome 1 open reading frame 116 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:42,187,442...42,201,432
Ensembl chr13:42,188,609...42,201,426 		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 chr13:42,075,715...42,111,205
Ensembl chr13:42,075,717...42,111,205 		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 chr13:42,120,798...42,131,515
Ensembl chr13:42,120,798...42,131,817 		JBrowse link
G Cacna1s calcium voltage-gated channel subunit alpha1 S susceptibility ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:1982519 PMID:3037387 PMID:7650604 PMID:7847370 PMID:7897626 More... NCBI chr13:47,493,949...47,564,194
Ensembl chr13:47,493,949...47,564,318 		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 chr13:47,723,251...47,802,606
Ensembl chr13:47,723,121...47,802,597 		JBrowse link
G Cd34 CD34 molecule ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:106,480,313...106,500,844
Ensembl chr13:106,480,043...106,499,832 		JBrowse link
G Cd46 CD46 molecule ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445 		JBrowse link
G Cd55 CD55 molecule (Cromer blood group) ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:41,857,242...41,885,966
Ensembl chr13:41,857,395...41,885,831 		JBrowse link
G Cdk18 cyclin-dependent kinase 18 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:43,555,597...43,582,210
Ensembl chr13:43,556,748...43,588,525 		JBrowse link
G Chi3l1 chitinase 3 like 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787 		JBrowse link
G Chit1 chitinase 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:45,565,841...45,613,593
Ensembl chr13:45,593,845...45,613,592 		JBrowse link
G Clcn1 chloride voltage-gated channel 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar NCBI chr 4:71,171,949...71,201,483
Ensembl chr 4:71,172,547...71,199,984 		JBrowse link
G Cntn2 contactin 2 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:43,942,868...43,975,973
Ensembl chr13:43,947,265...43,975,887 		JBrowse link
G Cr1l complement C3b/C4b receptor 1 like ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:106,606,952...106,660,442
Ensembl chr13:106,574,858...106,660,445 		JBrowse link
G Cr2 complement C3d receptor 2 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:106,678,579...106,716,595
Ensembl chr13:106,685,413...106,716,235 		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 chr13:47,158,171...47,179,388
Ensembl chr13:47,167,789...47,179,384 		JBrowse link
G Ctse cathepsin E ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:43,091,954...43,114,509
Ensembl chr13:43,092,128...43,114,502 		JBrowse link
G Cyb5r1 cytochrome b5 reductase 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:45,849,017...45,855,458
Ensembl chr13:45,849,091...45,855,458 		JBrowse link
G Ddx59 DEAD-box helicase 59 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:47,876,258...47,901,214
Ensembl chr13:47,876,261...47,901,214 		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 chr13:43,857,266...43,905,280
Ensembl chr13:43,857,266...43,905,269 		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 chr13:42,594,120...42,604,898
Ensembl chr13:42,594,121...42,604,778 		JBrowse link
G Eif2d eukaryotic translation initiation factor 2D ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:42,615,901...42,637,107
Ensembl chr13:42,615,911...42,639,719 		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 chr13:46,690,460...46,695,394
Ensembl chr13:46,690,466...46,695,481 		JBrowse link
G Elk4 ETS transcription factor ELK4 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:43,451,130...43,475,035
Ensembl chr13:43,435,843...43,475,035 		JBrowse link
G Etnk2 ethanolamine kinase 2 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:44,811,012...44,829,052
Ensembl chr13:44,811,015...44,829,037 		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 chr13:42,967,701...42,979,083
Ensembl chr13:42,967,578...42,984,208 		JBrowse link
G Fcamr Fc alpha and mu receptor ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:42,273,891...42,288,002
Ensembl chr13:42,273,628...42,287,113 		JBrowse link
G Fcmr Fc mu receptor ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:42,337,363...42,351,706
Ensembl chr13:42,337,414...42,351,653 		JBrowse link
G Fmod fibromodulin ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:45,493,517...45,504,134
Ensembl chr13:45,493,517...45,504,133 		JBrowse link
G Golt1a golgi transport 1A ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:44,760,356...44,773,123
Ensembl chr13:44,760,380...44,773,122 		JBrowse link
G Gpr25 G protein-coupled receptor 25 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:47,712,815...47,714,721
Ensembl chr13:47,713,592...47,714,671 		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 chr13:46,598,574...46,605,421
Ensembl chr13:46,598,578...46,605,421 		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 chr13:47,395,618...47,427,506
Ensembl chr13:47,395,595...47,437,879 		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 chr13:42,712,154...42,738,470
Ensembl chr13:42,712,159...42,737,143 		JBrowse link
G Il10 interleukin 10 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il19 interleukin 19 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473 		JBrowse link
G Il20 interleukin 20 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:42,380,981...42,384,625
Ensembl chr13:42,380,981...42,384,625 		JBrowse link
G Il24 interleukin 24 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:42,353,089...42,358,487
Ensembl chr13:42,353,090...42,358,487 		JBrowse link
G Inava innate immunity activator ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:47,666,446...47,687,383
Ensembl chr13:47,666,447...47,686,729 		JBrowse link
G Ipo9 importin 9 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:46,810,460...46,862,694
Ensembl chr13:46,813,171...46,862,673 		JBrowse link
G Kdm5b lysine demethylase 5B ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:46,001,589...46,073,868
Ensembl chr13:46,002,542...46,073,872 		JBrowse link
G Kif14 kinesin family member 14 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:47,926,975...47,990,598
Ensembl chr13:47,927,044...47,989,164 		JBrowse link
G Kif21b kinesin family member 21B ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:47,576,129...47,626,112
Ensembl chr13:47,576,160...47,626,127 		JBrowse link
G Kiss1 KiSS-1 metastasis-suppressor ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:44,775,106...44,780,707
Ensembl chr13:44,774,823...44,780,612 		JBrowse link
G Klhdc8a kelch domain containing 8A ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:43,735,702...43,744,277
Ensembl chr13:43,736,192...43,744,277 		JBrowse link
G Klhl12 kelch-like family member 12 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:45,899,913...45,933,648
Ensembl chr13:45,899,928...45,933,643 		JBrowse link
G Lad1 ladinin 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:47,249,605...47,263,967
Ensembl chr13:47,249,605...47,263,967 		JBrowse link
G Lax1 lymphocyte transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:45,134,825...45,145,381
Ensembl chr13:45,134,834...45,145,381 		JBrowse link
G Lemd1 LEM domain containing 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:43,631,705...43,697,765
Ensembl chr13:43,665,926...43,697,948 		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 chr13:46,424,382...46,544,074
Ensembl chr13:46,424,383...46,543,945 		JBrowse link
G Lmod1 leiomodin 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:46,754,048...46,796,186
Ensembl chr13:46,754,033...46,794,900 		JBrowse link
G Lrrn2 leucine rich repeat neuronal 2 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:44,321,944...44,382,454
Ensembl chr13:44,321,364...44,382,482 		JBrowse link
G Mapkapk2 MAPK activated protein kinase 2 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:42,513,762...42,560,061
Ensembl chr13:42,513,762...42,560,457 		JBrowse link
G Mdm4 MDM4 regulator of p53 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:44,432,596...44,516,165
Ensembl chr13:44,406,213...44,474,226 		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 chr13:43,469,488...43,510,467
Ensembl chr13:43,469,488...43,510,467 		JBrowse link
G Mybph myosin binding protein H ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:45,653,156...45,660,893
Ensembl chr13:45,653,234...45,660,893 		JBrowse link
G Myog myogenin ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:45,745,455...45,748,044
Ensembl chr13:45,745,436...45,748,039 		JBrowse link
G Nav1 neuron navigator 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:46,866,972...47,119,368
Ensembl chr13:46,873,689...47,126,449 		JBrowse link
G Nfasc neurofascin ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:43,997,223...44,183,863
Ensembl chr13:43,997,224...44,183,880 		JBrowse link
G Nuak2 NUAK family kinase 2 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:43,753,454...43,770,604
Ensembl chr13:43,753,832...43,770,604 		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 chr13:43,345,091...43,374,316
Ensembl chr13:43,345,115...43,370,229 		JBrowse link
G Optc opticin ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:45,353,954...45,368,254
Ensembl chr13:45,355,148...45,365,237 		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 chr13:42,147,473...42,174,699
Ensembl chr13:42,147,478...42,174,699 		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 chr13:47,193,250...47,196,335
Ensembl chr13:47,193,086...47,196,335 		JBrowse link
G Pigr polymeric immunoglobulin receptor ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:42,298,905...42,326,877
Ensembl chr13:42,298,914...42,326,875 		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 chr13:44,494,673...44,555,663
Ensembl chr13:44,495,050...44,555,612 		JBrowse link
G Pkp1 plakophilin 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:47,309,607...47,357,432
Ensembl chr13:47,309,614...47,357,465 		JBrowse link
G Plekha6 pleckstrin homology domain containing A6 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:44,614,740...44,754,951
Ensembl chr13:44,615,011...44,754,673 		JBrowse link
G Plxna2 plexin A2 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:106,163,103...106,358,979
Ensembl chr13:106,163,103...106,358,979 		JBrowse link
G Pm20d1 peptidase M20 domain containing 1 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:43,237,954...43,259,999
Ensembl chr13:43,237,971...43,259,999 		JBrowse link
G Ppfia4 PTPRF interacting protein alpha 4 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:45,753,827...45,802,305
Ensembl chr13:45,753,827...45,802,261 		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 chr13:46,199,418...46,397,108
Ensembl chr13:46,201,251...46,397,108 		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 chr13:44,577,840...44,585,737
Ensembl chr13:44,577,932...44,585,737 		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 chr13:45,368,407...45,391,480
Ensembl chr13:45,370,533...45,380,270 		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 chr13:46,570,904...46,584,048
Ensembl chr13:46,571,712...46,583,308 		JBrowse link
G Rab29 RAB29, member RAS oncogene family ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:43,307,757...43,313,420
Ensembl chr13:43,307,775...43,313,417 		JBrowse link
G Rabif RAB interacting factor ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:45,936,371...45,948,929
Ensembl chr13:45,936,369...45,949,775 		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 chr13:42,637,513...42,703,024
Ensembl chr13:42,637,549...42,703,024 		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 chr13:43,912,254...43,939,107
Ensembl chr13:43,912,254...43,939,107 		JBrowse link
G Ren renin ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489 		JBrowse link
G Rnpep arginyl aminopeptidase ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:46,699,458...46,717,829
Ensembl chr13:46,699,463...46,717,998 		JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1		 CTD
ClinVar		 PMID:1310898 PMID:1316765 PMID:1338909 PMID:1659668 PMID:1659948 More... NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545 		JBrowse link
G Shisa4 shisa family member 4 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:46,799,735...46,803,816
Ensembl chr13:46,799,772...46,803,998 		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 chr 4:127,036,704...127,131,026
Ensembl chr 4:127,036,742...127,131,020 		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 chr13:43,177,806...43,205,450
Ensembl chr13:43,177,867...43,204,330 		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 chr13:43,270,792...43,291,162
Ensembl chr13:43,270,792...43,291,162 		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 chr13:43,407,293...43,427,588
Ensembl chr13:43,407,293...43,427,588 		JBrowse link
G Snrpe small nuclear ribonucleoprotein polypeptide E ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:45,050,986...45,057,231
Ensembl chr13:45,050,986...45,057,310
Ensembl chr 8:45,050,986...45,057,310 		JBrowse link
G Sox13 SRY-box transcription factor 13 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:44,831,097...44,875,522
Ensembl chr13:44,831,085...44,875,762 		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 chr13:42,745,956...42,967,091
Ensembl chr13:42,745,947...42,967,058 		JBrowse link
G Syt2 synaptotagmin 2 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:46,088,046...46,197,976
Ensembl chr13:46,185,282...46,193,859 		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 chr13:46,731,117...46,742,604
Ensembl chr13:46,730,660...46,742,655 		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 chr13:43,794,029...43,831,716
Ensembl chr13:43,794,029...43,831,716 		JBrowse link
G Tmem183a transmembrane protein 183A ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:45,803,641...45,820,409
Ensembl chr13:45,803,639...45,820,375 		JBrowse link
G Tmem81 transmembrane protein 81 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:43,939,677...43,942,108
Ensembl chr13:43,939,630...43,942,113 		JBrowse link
G Tmem9 transmembrane protein 9 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:47,458,486...47,475,832
Ensembl chr13:47,458,498...47,475,832 		JBrowse link
G Tnni1 troponin I1, slow skeletal type ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:47,229,217...47,241,640
Ensembl chr13:47,229,216...47,241,644 		JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388 		JBrowse link
G Ube2t ubiquitin-conjugating enzyme E2T ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:46,403,352...46,413,854
Ensembl chr13:46,403,375...46,414,835 		JBrowse link
G Yod1 YOD1 deubiquitinase ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 ClinVar PMID:28492532 NCBI chr13:42,175,047...42,181,661
Ensembl chr13:42,174,820...42,177,205 		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 chr13:45,107,253...45,113,524
Ensembl chr13:45,071,718...45,114,009 		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 chr13:45,073,422...45,113,901
Ensembl chr13:45,071,718...45,114,009 		JBrowse link
Hypokalemic Periodic Paralysis, Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 2
DNA: missense mutation : exon : p.R663H
DNA : missense mutation : exon : p.R672S		 OMIM
CTD
ClinVar
RGD		 PMID:1310898 PMID:1659948 PMID:1668369 PMID:1918277 PMID:2173143 More... RGD:13208531, RGD:13208529 NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545 		JBrowse link
Normokalemic Periodic Paralysis, Potassium-Sensitive term browser
Symbol Object Name Qualifiers 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 chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545 		JBrowse link
Thyrotoxic Periodic Paralysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1s calcium voltage-gated channel subunit alpha1 S susceptibility ISO ClinVar Annotator: match by term: Thyrotoxic periodic paralysis, susceptibility to, 1
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:15001631 PMID:25741868 PMID:28492532 NCBI chr13:47,493,949...47,564,194
Ensembl chr13:47,493,949...47,564,318 		JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO protein:increased expression:peripheral blood cell (human) RGD PMID:1752149 RGD:8655904 NCBI chr20:3,314,830...3,318,106 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21112
    disease of anatomical entity 18151
      musculoskeletal system disease 8202
        muscular disease 2117
          familial periodic paralysis 124
            Normokalemic Periodic Paralysis, Potassium-Sensitive 1
            hyperkalemic periodic paralysis 14
            hypokalemic periodic paralysis + 111
Path 2
Term Annotations click to browse term
  disease 21112
    disease of anatomical entity 18151
      nervous system disease 13991
        peripheral nervous system disease 4068
          neuropathy 3850
            neuromuscular disease 3029
              muscular disease 2117
                familial periodic paralysis 124
                  Normokalemic Periodic Paralysis, Potassium-Sensitive 1
                  hyperkalemic periodic paralysis 14
                  hypokalemic periodic paralysis + 111
paths to the root