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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:Muscle Hypertonia
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Accession:DOID:9008941 term browser browse the term
Definition:Abnormal increase in skeletal or smooth muscle tone. Skeletal muscle hypertonicity may be associated with PYRAMIDAL TRACT lesions or BASAL GANGLIA DISEASES.
Synonyms:exact_synonym: Detrusor Muscle Hypertonia;   Detrusor Muscle Hypertonias;   Hypermyotonia;   Hypermyotonias;   Infantile Hypertonia;   Infantile Hypertonias;   Muscle Hypertonias;   Muscle Tone Increased;   Muscular Hypertonicities;   Muscular Hypertonicity;   Neonatal Hypertonia;   Neonatal Hypertonias;   Sphincter Hypertonia;   Sphincter Hypertonias;   Transient Hypertonia;   Transient Hypertonias
 narrow_synonym: EFS;   episodic falling syndrome;   paroxysmal hypertonicity disorder
 primary_id: MESH:D009122
 alt_id: OMIA:001592

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Muscle Hypertonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcan brevican ISO Episodic falling OMIA PMID:3680644 PMID:3716135 PMID:6868317 PMID:15971896 PMID:21821125 More... NCBI chrNW_004936580:5,816,196...5,828,531
Ensembl chrNW_004936580:5,816,359...5,828,126 		JBrowse link
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation ClinVar PMID:15156359 PMID:21507954 PMID:25741868 PMID:28492532 PMID:30460542 More... NCBI chrNW_004936688:1,987,075...2,079,148
Ensembl chrNW_004936688:1,987,054...2,079,173 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Coats plus syndrome ClinVar PMID:22267198 PMID:22387016 PMID:23220793 PMID:23869908 PMID:24033266 More... NCBI chrNW_004936595:1,456,911...1,476,331
Ensembl chrNW_004936595:1,454,508...1,476,593 		JBrowse link
G Stn1 STN1 subunit of CST complex ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936600:2,230,754...2,266,956
Ensembl chrNW_004936600:2,230,705...2,266,968 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16943371 PMID:17576681 PMID:18076099 More... NCBI chrNW_004936595:1,456,911...1,476,331
Ensembl chrNW_004936595:1,454,508...1,476,593 		JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 ClinVar PMID:22267198 PMID:22387016 PMID:24115768 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936595:1,483,688...1,499,716
Ensembl chrNW_004936595:1,483,689...1,501,364 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stn1 STN1 subunit of CST complex ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 OMIM
ClinVar		 PMID:25741868 PMID:27432940 PMID:28492532 NCBI chrNW_004936600:2,230,754...2,266,956
Ensembl chrNW_004936600:2,230,705...2,266,968 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pot1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3 ClinVar
OMIM		 PMID:27013236 PMID:28492532 NCBI chrNW_004936605:836,824...919,099
Ensembl chrNW_004936605:836,769...920,201 		JBrowse link
Charlevoix-Saguenay spastic ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankfy1 ankyrin repeat and FYVE domain containing 1 ISO OMIM:270550 MouseDO NCBI chrNW_004936677:746,408...836,495
Ensembl chrNW_004936677:749,379...836,480 		JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia | ClinVar Annotator: match by term: SACS-related condition OMIM
ClinVar		 PMID:9536098 PMID:9892370 PMID:10053011 PMID:10610707 PMID:10655055 More... NCBI chrNW_004936688:1,987,075...2,079,148
Ensembl chrNW_004936688:1,987,054...2,079,173 		JBrowse link
G Sgcg sarcoglycan gamma ISO ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936688:2,083,930...2,191,206
Ensembl chrNW_004936688:2,083,846...2,191,876 		JBrowse link
G Tgfbr1 transforming growth factor beta receptor 1 ISO ClinVar Annotator: match by term: SPASTIC ATAXIA 6, AUTOSOMAL RECESSIVE ClinVar PMID:25326637 PMID:28492532 NCBI chrNW_004936524:7,656,523...7,680,043
Ensembl chrNW_004936524:7,655,847...7,681,097 		JBrowse link
developmental and epileptic encephalopathy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amer1 APC membrane recruitment protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 ClinVar PMID:28492532 NCBI chrNW_004936635:3,465,473...3,482,311
Ensembl chrNW_004936635:3,478,598...3,482,008 		JBrowse link
G Arhgef9 Cdc42 guanine nucleotide exchange factor 9 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 OMIM
ClinVar		 PMID:9536098 PMID:15215304 PMID:16199547 PMID:16616186 PMID:17576681 More... NCBI chrNW_004936635:3,817,034...3,956,928
Ensembl chrNW_004936635:3,816,606...3,960,190 		JBrowse link
G Asb12 ankyrin repeat and SOCS box containing 12 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 ClinVar PMID:28492532 NCBI chrNW_004936635:3,447,347...3,453,762
Ensembl chrNW_004936635:3,447,345...3,453,762 		JBrowse link
G Mtmr8 myotubularin related protein 8 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 ClinVar PMID:28492532 NCBI chrNW_004936635:3,336,218...3,415,998
Ensembl chrNW_004936635:3,336,148...3,415,166 		JBrowse link
G Zc4h2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 ClinVar PMID:28492532 NCBI chrNW_004936635:2,924,632...2,954,003
Ensembl chrNW_004936635:2,924,601...2,953,854 		JBrowse link
dystonia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: CHOREOATHETOSIS, KINESIGENIC, WITH EPISODIC ATAXIA AND SPASTICITY | ClinVar Annotator: match by term: Dystonia 9 ClinVar
OMIM		 PMID:9536098 PMID:10980529 PMID:11076005 PMID:11477212 PMID:12325075 More... NCBI chrNW_004936474:24,205,878...24,236,611
Ensembl chrNW_004936474:24,206,644...24,236,713 		JBrowse link
Hengel-Maroofian-Schols syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcas3 BCAS3 microtubule associated cell migration factor ISO ClinVar Annotator: match by term: Hengel-Maroofian-Schols syndrome OMIM
ClinVar		 PMID:25741868 PMID:34022130 NCBI chrNW_004936490:2,189,693...2,761,989
Ensembl chrNW_004936490:2,189,583...2,761,331 		JBrowse link
hyperekplexia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Kok disease ClinVar PMID:10192393 PMID:10391090 PMID:25157968 PMID:26619011 NCBI chrNW_004936473:29,999,542...30,034,610
Ensembl chrNW_004936473:29,999,562...30,038,293 		JBrowse link
G Glra1 glycine receptor alpha 1 ISO ClinVar Annotator: match by term: Hyperekplexia ClinVar NCBI chrNW_004936515:10,816,712...10,896,958
Ensembl chrNW_004936515:10,817,422...10,896,958 		JBrowse link
G Glrb glycine receptor beta ISO ClinVar Annotator: match by term: Hyperekplexia ClinVar NCBI chrNW_004936576:3,665,128...3,752,592
Ensembl chrNW_004936576:3,664,877...3,754,936 		JBrowse link
G Gphn gephyrin ISO ClinVar Annotator: match by term: Kok disease ClinVar PMID:12684523 PMID:25741868 PMID:28492532 PMID:29948376 NCBI chrNW_004936495:9,970,683...10,565,467
Ensembl chrNW_004936495:9,972,007...10,564,591 		JBrowse link
G Slc6a5 solute carrier family 6 member 5 ISO ClinVar Annotator: match by term: Hyperekplexia ClinVar PMID:16884688 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936654:1,525,843...1,576,220
Ensembl chrNW_004936654:1,525,843...1,576,220 		JBrowse link
hyperekplexia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Hyperekplexia 1 ClinVar PMID:10192393 PMID:10391090 PMID:25157968 PMID:26619011 NCBI chrNW_004936473:29,999,542...30,034,610
Ensembl chrNW_004936473:29,999,562...30,038,293 		JBrowse link
G Glra1 glycine receptor alpha 1 ISO ClinVar Annotator: match by term: GLRA1-related condition | ClinVar Annotator: match by term: Hyperekplexia 1 OMIM
ClinVar		 PMID:1334371 PMID:7518444 PMID:7611730 PMID:7874121 PMID:7881416 More... NCBI chrNW_004936515:10,816,712...10,896,958
Ensembl chrNW_004936515:10,817,422...10,896,958 		JBrowse link
G Gphn gephyrin ISO ClinVar Annotator: match by term: Hyperekplexia 1 ClinVar PMID:12684523 PMID:25741868 PMID:28492532 PMID:29948376 NCBI chrNW_004936495:9,970,683...10,565,467
Ensembl chrNW_004936495:9,972,007...10,564,591 		JBrowse link
hyperekplexia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glrb glycine receptor beta ISO ClinVar Annotator: match by term: Hyperekplexia 2 OMIM
ClinVar		 PMID:9536098 PMID:11929858 PMID:16199547 PMID:17576681 PMID:21391991 More... NCBI chrNW_004936576:3,665,128...3,752,592
Ensembl chrNW_004936576:3,664,877...3,754,936 		JBrowse link
hyperekplexia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc6a5 solute carrier family 6 member 5 ISO ClinVar Annotator: match by term: Hyperekplexia 3 OMIM
ClinVar		 PMID:9536098 PMID:14622583 PMID:16199547 PMID:16751771 PMID:16884688 More... NCBI chrNW_004936654:1,525,843...1,576,220
Ensembl chrNW_004936654:1,525,843...1,576,220 		JBrowse link
hyperekplexia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atad1 ATPase family AAA domain containing 1 ISO ClinVar Annotator: match by term: Hyperekplexia 4 OMIM
ClinVar		 PMID:25741868 PMID:28180185 PMID:28492532 PMID:29390050 PMID:29659736 More... NCBI chrNW_004936735:1,377,168...1,423,696
Ensembl chrNW_004936735:1,376,526...1,422,126 		JBrowse link
Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 ISO ClinVar Annotator: match by term: EIF2AK1-related condition | ClinVar Annotator: match by term: Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32197074 NCBI chrNW_004936750:389,913...430,783
Ensembl chrNW_004936750:389,845...432,460 		JBrowse link
Methylenetetrahydrofolate Reductase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNH1orf167 chromosome unknown C1orf167 homolog ISO ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency ClinVar PMID:25741868 NCBI chrNW_004936474:605,492...623,355 JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO ClinVar Annotator: match by term: Generalized cerebral atrophy/hypoplasia | ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY | ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency | ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency ClinVar
OMIM		 PMID:1522835 PMID:3347350 PMID:3580562 PMID:6381059 PMID:7564788 More... NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193 		JBrowse link
Muscle Rigidity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gch1 GTP cyclohydrolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17368676 NCBI chrNW_004936697:232,048...275,420 JBrowse link
G LOC101961588 cytochrome P450 2D17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15570195 NCBI chrNW_004936718:153,340...157,966 JBrowse link
G Npy neuropeptide Y ISO CTD Direct Evidence: therapeutic CTD PMID:10675796 NCBI chrNW_004936478:1,289,437...1,296,819
Ensembl chrNW_004936478:1,290,505...1,296,874 		JBrowse link
G Nts neurotensin ISO CTD Direct Evidence: therapeutic CTD PMID:8036282 NCBI chrNW_004936507:3,318,982...3,329,248
Ensembl chrNW_004936507:3,318,915...3,329,342 		JBrowse link
G Pde8b phosphodiesterase 8B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20085714 NCBI chrNW_004936549:5,212,693...5,450,195
Ensembl chrNW_004936549:5,212,834...5,448,515 		JBrowse link
Muscle Spasticity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adra2a adrenoceptor alpha 2A ISO RGD PMID:21871540 RGD:6480106 NCBI chrNW_004936486:1,837,785...1,841,019
Ensembl chrNW_004936486:1,838,176...1,839,630 		JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17220914 NCBI chrNW_004936510:3,779,930...3,806,615
Ensembl chrNW_004936510:3,781,210...3,802,693 		JBrowse link
G Ddhd1 DDHD domain containing 1 ISO ClinVar Annotator: match by term: Spasticity ClinVar NCBI chrNW_004936697:1,786,023...1,863,084
Ensembl chrNW_004936697:1,786,017...1,860,614 		JBrowse link
G Dmxl2 Dmx like 2 ISO ClinVar Annotator: match by term: Spasticity ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936471:13,330,870...13,483,610
Ensembl chrNW_004936471:13,329,622...13,483,937 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Spasticity ClinVar PMID:25741868 NCBI chrNW_004936554:2,872,729...2,996,821
Ensembl chrNW_004936554:2,872,713...2,996,823 		JBrowse link
G LOC101960999 voltage-dependent P/Q-type calcium channel subunit alpha-1A ISO ClinVar Annotator: match by term: Spasticity ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936659:2,201,606...2,269,625
Ensembl chrNW_004936659:2,192,610...2,392,638 		JBrowse link
G Plp1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Spasticity ClinVar NCBI chrNW_004936499:10,534,953...10,553,411
Ensembl chrNW_004936499:10,534,950...10,551,012 		JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Spasticity ClinVar PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 More... NCBI chrNW_004936530:7,630,668...7,648,658
Ensembl chrNW_004936530:7,630,637...7,648,676 		JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Spasticity ClinVar PMID:25741868 NCBI chrNW_004936724:1,747,015...1,780,298
Ensembl chrNW_004936724:1,747,005...1,778,141 		JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Spasticity ClinVar NCBI chrNW_004936499:10,501,837...10,506,793
Ensembl chrNW_004936499:10,437,611...10,504,320 		JBrowse link
G Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Spasticity ClinVar PMID:25025039 PMID:25741868 NCBI chrNW_004936712:1,186,565...1,241,829
Ensembl chrNW_004936712:1,206,276...1,241,301 		JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Spasticity ClinVar PMID:10699187 PMID:11809724 PMID:11843700 PMID:15841487 PMID:20214791 More... NCBI chrNW_004936493:1,283,754...1,342,592
Ensembl chrNW_004936493:1,283,729...1,343,390 		JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Spasticity ClinVar NCBI chrNW_004936487:15,300,758...15,367,475
Ensembl chrNW_004936487:15,300,952...15,365,713 		JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Spasticity ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chrNW_004936470:22,667,354...22,725,538
Ensembl chrNW_004936470:22,667,127...22,725,749 		JBrowse link
G Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma ISO ClinVar Annotator: match by term: Spasticity ClinVar PMID:25741868 PMID:28492532 PMID:31926053 NCBI chrNW_004936543:2,062,137...2,096,207
Ensembl chrNW_004936543:2,061,794...2,096,525 		JBrowse link
myofibrillar myopathy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep63 centrosomal protein 63 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 7 ClinVar PMID:25741868 PMID:27484770 PMID:27485408 PMID:30591934 NCBI chrNW_004936529:7,577,122...7,632,161
Ensembl chrNW_004936529:7,585,839...7,635,439 		JBrowse link
G Ky kyphoscoliosis peptidase ISO ClinVar Annotator: match by term: Myofibrillar myopathy 7 OMIM
ClinVar		 PMID:25741868 PMID:27484770 PMID:27485408 PMID:30591934 NCBI chrNW_004936529:7,657,963...7,704,482
Ensembl chrNW_004936529:7,657,957...7,704,517 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shmt2 serine hydroxymethyltransferase 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | ClinVar Annotator: match by term: SHMT2-related condition OMIM
ClinVar		 PMID:25741868 PMID:33015733 NCBI chrNW_004936646:1,422,844...1,427,929
Ensembl chrNW_004936646:1,422,817...1,429,037 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ints8 integrator complex subunit 8 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity OMIM
ClinVar		 PMID:25741868 PMID:28763441 NCBI chrNW_004936544:7,784,093...7,839,646
Ensembl chrNW_004936544:7,784,242...7,839,565 		JBrowse link
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trappc4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy OMIM
ClinVar		 PMID:25741868 PMID:31794024 PMID:32125366 PMID:32901138 PMID:34878169 NCBI chrNW_004936542:3,977,223...3,980,168
Ensembl chrNW_004936542:3,977,358...3,979,906 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg2b AFG2 AAA ATPase homolog B ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hearing loss and spasticity | ClinVar Annotator: match by term: SPATA5L1-associated disorder OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:34626583 NCBI chrNW_004936471:8,064,708...8,078,968
Ensembl chrNW_004936471:8,065,363...8,080,939 		JBrowse link
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmx2 thioredoxin related transmembrane protein 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity OMIM
ClinVar		 PMID:25741868 PMID:25741916 PMID:31586943 PMID:31735293 NCBI chrNW_004936581:4,818,626...4,830,878
Ensembl chrNW_004936581:4,818,264...4,831,575 		JBrowse link
Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gad1 glutamate decarboxylase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities ClinVar PMID:9084927 PMID:9536098 PMID:15571623 PMID:16199547 PMID:17576681 More... NCBI chrNW_004936509:1,160,559...1,201,037
Ensembl chrNW_004936509:1,161,094...1,201,576 		JBrowse link
G Hpdl 4-hydroxyphenylpyruvate dioxygenase like ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities OMIM
ClinVar		 PMID:9084927 PMID:9973289 PMID:25741868 PMID:32707086 PMID:33188300 More... NCBI chrNW_004936474:26,481,300...26,483,143
Ensembl chrNW_004936474:26,481,883...26,482,998 		JBrowse link
neurodevelopmental disorder with spasticity and poor growth term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ufc1 ubiquitin-fold modifier conjugating enzyme 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity and poor growth OMIM
ClinVar		 PMID:25741868 PMID:25741915 PMID:27431290 PMID:29868776 NCBI chrNW_004936903:449,042...462,727
Ensembl chrNW_004936903:449,039...462,727 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med27 mediator complex subunit 27 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia OMIM
ClinVar		 PMID:33443317 NCBI chrNW_004936487:18,523,979...18,711,584
Ensembl chrNW_004936487:18,523,010...18,711,618 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsrp1 nuclear speckle splicing regulatory protein 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities OMIM
ClinVar		 PMID:25741868 PMID:34385670 NCBI chrNW_004936538:6,138,993...6,184,730
Ensembl chrNW_004936538:6,138,962...6,184,837 		JBrowse link
NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnr tenascin R ISO ClinVar Annotator: match by term: Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus | ClinVar Annotator: match by term: Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus OMIM
ClinVar		 PMID:25741868 PMID:28334938 PMID:32099069 NCBI chrNW_004936481:12,586,460...12,972,348
Ensembl chrNW_004936481:12,787,536...12,965,327 		JBrowse link
spastic ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 onset ISO DNA:missense mutation:exon:p.Y616C (c.1847G>A) (human)
ClinVar Annotator: match by term: Spastic ataxia		 RGD
ClinVar		 PMID:22022284 PMID:25741868 RGD:11532672 NCBI chrNW_004936626:150,953...189,980
Ensembl chrNW_004936626:150,974...189,218 		JBrowse link
G Ahdc1 AT-hook DNA binding motif containing 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936474:11,824,692...11,846,355
Ensembl chrNW_004936474:11,824,697...11,876,817 		JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004936518:7,072,436...7,088,927
Ensembl chrNW_004936518:7,072,403...7,088,929 		JBrowse link
G Ampd2 adenosine monophosphate deaminase 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004936704:1,092,180...1,111,722
Ensembl chrNW_004936704:1,099,816...1,113,887 		JBrowse link
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:34445196 NCBI chrNW_004936493:10,509,118...10,549,144
Ensembl chrNW_004936493:10,509,118...10,549,144 		JBrowse link
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:1671769 PMID:7866401 PMID:10477432 PMID:12809637 PMID:16678723 More... NCBI chrNW_004936629:187,281...205,493
Ensembl chrNW_004936629:187,275...191,008 		JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004936740:489,357...514,235
Ensembl chrNW_004936740:488,154...514,308 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004936809:396,883...466,372
Ensembl chrNW_004936809:396,733...466,524 		JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:7626145 PMID:10441329 PMID:10544227 PMID:16283883 PMID:17317524 More... NCBI chrNW_004936565:4,694,294...4,763,661
Ensembl chrNW_004936565:4,694,281...4,763,773 		JBrowse link
G Cacna1g calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004936490:11,093,600...11,157,756
Ensembl chrNW_004936490:11,093,595...11,157,563 		JBrowse link
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004936469:25,494,820...25,745,783
Ensembl chrNW_004936469:25,494,883...25,740,223 		JBrowse link
G Ccdc88c coiled-coil domain containing 88C ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004936488:18,288,504...18,402,125
Ensembl chrNW_004936488:18,289,651...18,402,115 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:16909394 PMID:17345604 PMID:17564974 PMID:20690115 PMID:21602930 More... NCBI chrNW_004936507:5,223,756...5,305,392
Ensembl chrNW_004936507:5,221,910...5,305,422 		JBrowse link
G Cln6 CLN6 transmembrane ER protein ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004936471:28,069,058...28,084,607
Ensembl chrNW_004936471:28,070,462...28,084,648 		JBrowse link
G CUNH19orf12 chromosome unknown C19orf12 homolog ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004936570:5,628,593...5,640,982
Ensembl chrNW_004936570:5,628,515...5,641,056 		JBrowse link
G Dab1 DAB adaptor protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004936522:3,498,395...4,612,560
Ensembl chrNW_004936522:4,333,647...4,616,044 		JBrowse link
G Dars2 aspartyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004936481:14,029,478...14,052,724
Ensembl chrNW_004936481:14,027,772...14,052,806 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004936659:520,181...565,496
Ensembl chrNW_004936659:520,493...565,416 		JBrowse link
G Elovl4 ELOVL fatty acid elongase 4 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004936510:10,246,901...10,276,049
Ensembl chrNW_004936510:10,246,356...10,276,753 		JBrowse link
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:9580660 PMID:23623389 PMID:25741868 PMID:28492532 NCBI chrNW_004936501:2,301,072...2,329,346
Ensembl chrNW_004936501:2,300,835...2,329,351 		JBrowse link
G Exosc8 exosome component 8 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004936472:31,112,733...31,115,639 JBrowse link
G Fa2h fatty acid 2-hydroxylase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:34445196 NCBI chrNW_004936475:23,625,023...23,675,211
Ensembl chrNW_004936475:23,624,969...23,675,235 		JBrowse link
G Fat2 FAT atypical cadherin 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936515:11,132,059...11,200,544
Ensembl chrNW_004936515:11,132,059...11,199,153 		JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004936479:15,756,370...15,784,365
Ensembl chrNW_004936479:15,756,370...15,784,359 		JBrowse link
G Galc galactosylceramidase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26795590 PMID:27638593 PMID:28492532 PMID:30777126 More... NCBI chrNW_004936488:15,444,184...15,519,395
Ensembl chrNW_004936488:15,444,801...15,518,856 		JBrowse link
G Gjc2 gap junction protein gamma 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:22833003 PMID:25059390 PMID:25741868 PMID:28492532 PMID:33190326 More... NCBI chrNW_004936864:67,608...71,543
Ensembl chrNW_004936864:69,445...70,752 		JBrowse link
G Glb1 galactosidase beta 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:8922281 PMID:10841810 PMID:15714521 PMID:18524657 PMID:21497194 More... NCBI chrNW_004936473:23,348,431...23,440,271
Ensembl chrNW_004936473:23,348,416...23,440,196 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:32333447 PMID:34445196 NCBI chrNW_004936531:9,610,335...9,625,203
Ensembl chrNW_004936531:9,610,306...9,625,551 		JBrowse link
G Hpdl 4-hydroxyphenylpyruvate dioxygenase like ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:32707086 PMID:33970200 NCBI chrNW_004936474:26,481,300...26,483,143
Ensembl chrNW_004936474:26,481,883...26,482,998 		JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor type 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 NCBI chrNW_004936577:3,896,455...4,198,396
Ensembl chrNW_004936577:3,896,390...4,198,411 		JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004936521:2,000,113...2,706,010
Ensembl chrNW_004936521:2,000,109...2,705,365 		JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936745:911,651...976,878
Ensembl chrNW_004936745:911,709...974,199 		JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar NCBI chrNW_004936677:2,696,385...2,720,959
Ensembl chrNW_004936677:2,696,209...2,720,959 		JBrowse link
G LOC101955077 cytochrome P450 7B1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004936496:8,900,320...9,072,109
Ensembl chrNW_004936496:8,899,965...9,072,089 		JBrowse link
G LOC101960999 voltage-dependent P/Q-type calcium channel subunit alpha-1A ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 NCBI chrNW_004936659:2,201,606...2,269,625
Ensembl chrNW_004936659:2,192,610...2,392,638 		JBrowse link
G Lyst lysosomal trafficking regulator ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936484:16,750,976...16,915,999
Ensembl chrNW_004936484:16,763,511...16,916,022 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936490:4,865,243...4,876,601
Ensembl chrNW_004936490:4,865,243...4,878,912 		JBrowse link
G Mtpap mitochondrial poly(A) polymerase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004936613:3,836,461...3,865,240
Ensembl chrNW_004936613:3,836,308...3,866,542 		JBrowse link
G Naglu N-acetyl-alpha-glucosaminidase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004936490:17,305,033...17,312,167
Ensembl chrNW_004936490:17,304,586...17,314,521 		JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:25741868 PMID:28492532 NCBI chrNW_004936737:1,144,753...1,152,720
Ensembl chrNW_004936737:1,144,700...1,152,718 		JBrowse link
G Pik3r5 phosphoinositide-3-kinase regulatory subunit 5 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004936595:2,029,074...2,053,954
Ensembl chrNW_004936595:2,029,814...2,055,976 		JBrowse link
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chrNW_004936492:3,011,752...3,060,962
Ensembl chrNW_004936492:3,011,772...3,060,986 		JBrowse link
G Pnpla6 patatin like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:32579787 NCBI chrNW_004936588:4,608,856...4,632,198
Ensembl chrNW_004936588:4,608,963...4,632,183 		JBrowse link
G Ppt1 palmitoyl-protein thioesterase 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:12382155 PMID:16759889 PMID:19302939 PMID:21990111 PMID:23374165 More... NCBI chrNW_004936474:21,881,692...21,906,564
Ensembl chrNW_004936474:21,881,712...21,906,569 		JBrowse link
G Pum1 pumilio RNA binding family member 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004936474:14,243,325...14,363,461
Ensembl chrNW_004936474:14,243,296...14,363,500 		JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936688:1,987,075...2,079,148
Ensembl chrNW_004936688:1,987,054...2,079,173 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936469:13,872,701...14,019,170
Ensembl chrNW_004936469:13,872,701...13,971,005 		JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936512:9,164,310...9,281,795
Ensembl chrNW_004936512:9,164,262...9,279,688 		JBrowse link
G Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:34445196 NCBI chrNW_004936477:4,335,945...4,368,117
Ensembl chrNW_004936477:4,336,059...4,368,901 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:28708278 NCBI chrNW_004936487:18,858,384...18,945,253
Ensembl chrNW_004936487:18,855,744...18,944,158 		JBrowse link
G Slc1a3 solute carrier family 1 member 3 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936518:5,216,343...5,291,107
Ensembl chrNW_004936518:5,215,290...5,291,058 		JBrowse link
G Slc25a46 solute carrier family 25 member 46 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:31847883 PMID:34445196 NCBI chrNW_004936531:5,177,750...5,201,362
Ensembl chrNW_004936531:5,177,739...5,203,955 		JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:16055926 PMID:16240363 PMID:25741868 PMID:28492532 PMID:28572275 More... NCBI chrNW_004936493:1,283,754...1,342,592
Ensembl chrNW_004936493:1,283,729...1,343,390 		JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936471:7,540,647...7,618,783 JBrowse link
G Sptan1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004936487:16,071,043...16,142,662
Ensembl chrNW_004936487:16,070,996...16,142,662 		JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:18414213 PMID:24781210 PMID:25356970 PMID:25741868 PMID:26795593 More... NCBI chrNW_004936487:15,300,758...15,367,475
Ensembl chrNW_004936487:15,300,952...15,365,713 		JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:19542096 PMID:24319099 PMID:25741868 PMID:26467025 PMID:27086870 More... NCBI chrNW_004936489:4,903,176...5,177,987 JBrowse link
G Syne2 spectrin repeat containing nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936495:7,658,250...7,949,417 JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004936544:6,887,867...6,931,669
Ensembl chrNW_004936544:6,887,532...6,932,179 		JBrowse link
G Ttbk2 tau tubulin kinase 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936471:6,003,294...6,108,677
Ensembl chrNW_004936471:6,009,091...6,154,529 		JBrowse link
G Tubb3 tubulin beta 3 class III ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004936641:184,736...193,835
Ensembl chrNW_004936641:184,765...193,819 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:12955714 PMID:15605410 PMID:17603484 PMID:18060660 PMID:20301750 More... NCBI chrNW_004936477:18,339,915...18,364,973
Ensembl chrNW_004936477:18,339,827...18,364,998 		JBrowse link
spastic ataxia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tapbpl TAP binding protein like ISO ClinVar Annotator: match by term: Spastic ataxia 1 ClinVar PMID:11774073 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 More... NCBI chrNW_004936709:1,304,843...1,313,191
Ensembl chrNW_004936709:1,304,971...1,313,770 		JBrowse link
G Vamp1 vesicle associated membrane protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia 1 OMIM
ClinVar		 PMID:11774073 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 More... NCBI chrNW_004936709:1,297,820...1,304,793
Ensembl chrNW_004936709:1,297,743...1,304,899 		JBrowse link
spastic ataxia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camta2 calmodulin binding transcription activator 2 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chrNW_004936677:2,732,223...2,747,408
Ensembl chrNW_004936677:2,730,874...2,747,406 		JBrowse link
G Chrne cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chrNW_004936677:2,809,057...2,813,838
Ensembl chrNW_004936677:2,808,799...2,813,290 		JBrowse link
G CUNH17orf107 chromosome unknown C17orf107 homolog ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chrNW_004936677:2,811,199...2,812,425
Ensembl chrNW_004936677:2,811,355...2,812,285 		JBrowse link
G Eno3 enolase 3 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chrNW_004936677:2,754,117...2,760,992
Ensembl chrNW_004936677:2,754,067...2,760,644 		JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chrNW_004936677:2,774,076...2,779,660 JBrowse link
G Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chrNW_004936677:2,721,451...2,730,398
Ensembl chrNW_004936677:2,721,443...2,730,527 		JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Spastic ataxia 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17273843 PMID:17576681 PMID:24319291 More... NCBI chrNW_004936677:2,696,385...2,720,959
Ensembl chrNW_004936677:2,696,209...2,720,959 		JBrowse link
G Pfn1 profilin 1 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chrNW_004936677:2,762,971...2,766,038
Ensembl chrNW_004936677:2,762,971...2,766,149 		JBrowse link
G Rnf167 ring finger protein 167 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chrNW_004936677:2,766,724...2,771,111
Ensembl chrNW_004936677:2,766,907...2,770,225 		JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chrNW_004936677:2,770,969...2,773,973
Ensembl chrNW_004936677:2,770,964...2,776,022 		JBrowse link
G Spag7 sperm associated antigen 7 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chrNW_004936677:2,747,476...2,753,183
Ensembl chrNW_004936677:2,747,506...2,753,185 		JBrowse link
spastic ataxia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mars2 methionyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Spastic ataxia 3 OMIM
ClinVar		 PMID:22448145 PMID:25741868 PMID:25741913 PMID:28492532 NCBI chrNW_004936506:1,550,068...1,552,776
Ensembl chrNW_004936506:1,550,957...1,552,738 		JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Autosomal recessive spastic ataxia ClinVar PMID:20876471 PMID:21450511 PMID:24033266 PMID:24180463 PMID:25741868 NCBI chrNW_004936688:1,987,075...2,079,148
Ensembl chrNW_004936688:1,987,054...2,079,173 		JBrowse link
spastic ataxia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtpap mitochondrial poly(A) polymerase ISO ClinVar Annotator: match by term: MTPAP-related condition | ClinVar Annotator: match by term: Spastic ataxia 4 OMIM
ClinVar		 PMID:20970105 PMID:24651433 PMID:25008111 PMID:25741868 PMID:26319014 More... NCBI chrNW_004936613:3,836,461...3,865,240
Ensembl chrNW_004936613:3,836,308...3,866,542 		JBrowse link
spastic ataxia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Spastic ataxia 5 OMIM
ClinVar		 PMID:22022284 PMID:25401298 PMID:25741868 PMID:25741914 PMID:26454370 More... NCBI chrNW_004936626:150,953...189,980
Ensembl chrNW_004936626:150,974...189,218 		JBrowse link
G Tubb6 tubulin beta 6 class V ISO ClinVar Annotator: match by term: Spastic ataxia 5 ClinVar PMID:25741868 PMID:26467025 PMID:27165006 PMID:28492532 NCBI chrNW_004936626:192,191...204,827
Ensembl chrNW_004936626:188,881...204,884 		JBrowse link
spastic ataxia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx6-2 NK6 homeobox 2 ISO ClinVar Annotator: match by term: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28575651 PMID:28969374 PMID:29388673 More... NCBI chrNW_004936486:19,024,106...19,025,387
Ensembl chrNW_004936486:19,024,263...19,025,390 		JBrowse link
Spastic Ataxia 9, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chp1 calcineurin like EF-hand protein 1 ISO OMIM NCBI chrNW_004936471:4,611,980...4,660,320
Ensembl chrNW_004936471:4,611,252...4,660,359 		JBrowse link
Stiff-Person syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Stiff-person syndrome, congenital ClinVar PMID:10192393 PMID:10391090 PMID:25157968 PMID:26619011 NCBI chrNW_004936473:29,999,542...30,034,610
Ensembl chrNW_004936473:29,999,562...30,038,293 		JBrowse link
G Glra1 glycine receptor alpha 1 ISO ClinVar Annotator: match by term: Hereditary hyperekplexia ClinVar PMID:1334371 PMID:7518444 PMID:7611730 PMID:7881416 PMID:7981700 More... NCBI chrNW_004936515:10,816,712...10,896,958
Ensembl chrNW_004936515:10,817,422...10,896,958 		JBrowse link
G Glrb glycine receptor beta ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936576:3,665,128...3,752,592
Ensembl chrNW_004936576:3,664,877...3,754,936 		JBrowse link
G Gphn gephyrin ISO ClinVar Annotator: match by term: Stiff-person syndrome, congenital ClinVar PMID:12684523 PMID:25741868 PMID:28492532 PMID:29948376 NCBI chrNW_004936495:9,970,683...10,565,467
Ensembl chrNW_004936495:9,972,007...10,564,591 		JBrowse link
G Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 ISO RGD PMID:12225901 RGD:10411898 NCBI chrNW_004936715:2,357,215...2,446,601
Ensembl chrNW_004936715:2,357,274...2,446,271 		JBrowse link
G LOC110599009 trafficking kinesin-binding protein 1 ISO OMIM:184850 MouseDO NCBI chrNW_004936473:30,568,151...30,660,753 JBrowse link
G Slc6a5 solute carrier family 6 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25480793 NCBI chrNW_004936654:1,525,843...1,576,220
Ensembl chrNW_004936654:1,525,843...1,576,220 		JBrowse link
syndromic X-linked intellectual disability Turner type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aff2 ALF transcription elongation factor 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE ClinVar PMID:25741868 NCBI chrNW_004936513:414,839...893,670
Ensembl chrNW_004936513:414,574...893,676 		JBrowse link
G Camta1 calmodulin binding transcription activator 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE ClinVar PMID:25741868 NCBI chrNW_004936623:1,759,052...2,265,466
Ensembl chrNW_004936623:1,526,171...2,266,124 		JBrowse link
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: HUWE1-related condition | ClinVar Annotator: match by term: HUWE1-related neurodevelopmental disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE | ClinVar Annotator: match by term: Intellectual disability, X-linked syndromic, Turner type OMIM
ClinVar		 PMID:6107045 PMID:7943042 PMID:7943044 PMID:9536098 PMID:16700052 More... NCBI chrNW_004936751:478,978...622,818
Ensembl chrNW_004936751:478,300...622,820 		JBrowse link
G Ski SKI proto-oncogene ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936737:1,223,653...1,274,664
Ensembl chrNW_004936737:1,222,341...1,276,631 		JBrowse link
USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1g1 adaptor related protein complex 1 subunit gamma 1 ISO ClinVar Annotator: match by term: Usmani-Riazuddin syndrome, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:34102099 NCBI chrNW_004936475:21,983,248...22,063,133
Ensembl chrNW_004936475:21,983,248...22,063,181 		JBrowse link
Webb-Dattani Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arnt2 aryl hydrocarbon receptor nuclear translocator 2 ISO ClinVar Annotator: match by term: Webb-Dattani syndrome OMIM
ClinVar		 PMID:24022475 PMID:25741868 PMID:28492532 NCBI chrNW_004936483:20,041,712...20,218,853
Ensembl chrNW_004936483:20,041,657...20,218,965 		JBrowse link
X-linked intellectual disability-psychosis-macroorchidism syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic 16 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936751:1,355,606...1,397,282
Ensembl chrNW_004936751:1,351,795...1,397,288 		JBrowse link
G Mecp2 methyl-CpG binding protein 2 susceptibility ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13 | ClinVar Annotator: match by term: PPM-X syndrome | ClinVar Annotator: match by term: X-linked intellectual disability-psychosis-macroorchidism syndrome ClinVar
OMIM		 PMID:1057790 PMID:1105898 PMID:1191367 PMID:1241840 PMID:2323808 More... NCBI chrNW_004936809:902,938...967,771
Ensembl chrNW_004936809:911,764...966,839 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Pathological Conditions, Signs and Symptoms 11287
      Signs and Symptoms 9356
        Neurologic Manifestations 9046
          Neuromuscular Manifestations 755
            Muscle Hypertonia 141
              Familial Convulsive Disorder with Prenatal or Early Onset 0
              Lethal Muscular Hypertonia 0
              Muscle Rigidity + 18
              Muscle Spasticity + 120
              myofibrillar myopathy 7 2
paths to the root