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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 Spasticity
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Accession:DOID:9007428 term browser browse the term
Definition:A form of muscle hypertonia associated with upper MOTOR NEURON DISEASE. Resistance to passive stretch of a spastic muscle results in minimal initial resistance (a 'free interval') followed by an incremental increase in muscle tone. Tone increases in proportion to the velocity of stretch. Spasticity is usually accompanied by HYPERREFLEXIA and variable degrees of MUSCLE WEAKNESS. (From Adams et al., Principles of Neurology, 6th ed, p54)
Synonyms:exact_synonym: Clasp Knife Spasticity;   SPASTICITY;   Spastic
 primary_id: MESH:D009128

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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_004955485:384,405...387,332
Ensembl chrNW_004955485:385,800...387,240 		JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Spasticity ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955415:32,182,536...32,457,511
Ensembl chrNW_004955415:32,183,442...32,400,595 		JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17220914 NCBI chrNW_004955411:15,052,151...15,077,320
Ensembl chrNW_004955411:15,052,163...15,077,320 		JBrowse link
G Ddhd1 DDHD domain containing 1 ISO ClinVar Annotator: match by term: Spasticity ClinVar NCBI chrNW_004955409:10,111,299...10,185,603
Ensembl chrNW_004955409:10,110,812...10,183,068 		JBrowse link
G Dmxl2 Dmx like 2 ISO ClinVar Annotator: match by term: Spasticity ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955409:2,934,755...3,089,572
Ensembl chrNW_004955409:2,934,740...3,089,703 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Spasticity ClinVar PMID:25741868 NCBI chrNW_004955403:22,502,625...22,618,513
Ensembl chrNW_004955403:22,502,625...22,619,211 		JBrowse link
G Plp1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Spasticity ClinVar NCBI chrNW_004955548:781,522...797,246
Ensembl chrNW_004955548:781,015...797,935 		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_004955442:9,390,789...9,411,722
Ensembl chrNW_004955442:9,389,443...9,411,719 		JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Spasticity ClinVar PMID:25741868 NCBI chrNW_004955467:2,422,181...2,456,925
Ensembl chrNW_004955467:2,423,659...2,457,307 		JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Spasticity ClinVar NCBI chrNW_004955548:825,208...829,815 JBrowse link
G Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Spasticity ClinVar PMID:25025039 PMID:25741868 NCBI chrNW_004955424:1,369,490...1,425,611
Ensembl chrNW_004955424:1,369,490...1,425,605 		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_004955441:471,609...521,920
Ensembl chrNW_004955441:485,815...520,452 		JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Spasticity ClinVar NCBI chrNW_004955419:963,829...1,000,759
Ensembl chrNW_004955419:963,829...1,000,759 		JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Spasticity ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chrNW_004955461:145,993...199,274
Ensembl chrNW_004955461:145,993...199,903 		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_004955456:14,939,130...14,970,248
Ensembl chrNW_004955456:14,939,084...14,970,248 		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_004955497:3,701,515...3,752,627
Ensembl chrNW_004955497:3,706,882...3,754,663 		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_004955467:8,673,069...8,700,730
Ensembl chrNW_004955467:8,673,128...8,702,165 		JBrowse link
G Stn1 STN1 subunit of CST complex ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955485:6,748,682...6,784,119
Ensembl chrNW_004955485:6,748,234...6,784,762 		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_004955467:8,673,069...8,700,730
Ensembl chrNW_004955467:8,673,128...8,702,165 		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_004955467:8,640,044...8,660,950
Ensembl chrNW_004955467:8,640,044...8,660,979 		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_004955485:6,748,682...6,784,119
Ensembl chrNW_004955485:6,748,234...6,784,762 		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_004955479:6,140,599...6,230,512
Ensembl chrNW_004955479:6,140,501...6,209,031 		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_004955467:12,644,070...12,734,546
Ensembl chrNW_004955467:12,644,098...12,730,711 		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_004955497:3,701,515...3,752,627
Ensembl chrNW_004955497:3,706,882...3,754,663 		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_004955497:3,592,041...3,702,780
Ensembl chrNW_004955497:3,615,003...3,701,300 		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_004955419:26,490,899...26,546,349
Ensembl chrNW_004955419:26,490,899...26,547,017 		JBrowse link
Childhood-Onset Spasticity with Hyperglycinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glrx5 glutaredoxin 5 ISO ClinVar Annotator: match by term: Spasticity, childhood-onset, with hyperglycinemia OMIM
ClinVar		 PMID:24334290 PMID:25741868 PMID:28492532 NCBI chrNW_004955438:17,067,017...17,076,162
Ensembl chrNW_004955438:17,066,955...17,075,789 		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_004955537:2,408,042...2,438,788
Ensembl chrNW_004955537:2,408,042...2,439,511 		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_004955451:1,929,857...2,450,225
Ensembl chrNW_004955451:1,929,543...2,449,523 		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_004955460:13,723,674...13,754,545
Ensembl chrNW_004955460:13,723,777...13,754,150 		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_004955486:2,112,698...2,131,296 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_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240 		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_004955458:4,957,614...4,962,691
Ensembl chrNW_004955458:4,957,602...4,962,691 		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_004955417:10,975,716...11,027,697
Ensembl chrNW_004955417:10,975,103...11,027,697 		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_004955412:20,129,154...20,133,043
Ensembl chrNW_004955412:20,129,154...20,133,043 		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_004955409:8,031,094...8,049,477 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_004955511:2,632,434...2,641,531
Ensembl chrNW_004955511:2,632,507...2,638,763 		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_004955449:3,964,006...4,001,850
Ensembl chrNW_004955449:3,963,705...4,001,850 		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_004955464:12,936,996...12,940,050 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_004955468:12,919,031...12,922,740
Ensembl chrNW_004955468:12,919,031...12,922,740 		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_004955481:3,142,009...3,192,060
Ensembl chrNW_004955481:3,138,059...3,192,066 		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_004955406:15,007,248...15,512,219
Ensembl chrNW_004955406:15,088,843...15,282,937 		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_004955402:1,037,414...1,069,165
Ensembl chrNW_004955402:1,037,402...1,069,165 		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_004955452:6,767,250...6,832,989
Ensembl chrNW_004955452:6,767,266...6,832,868 		JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955426:19,570,179...19,580,920
Ensembl chrNW_004955426:19,570,070...19,580,818 		JBrowse link
G Ampd2 adenosine monophosphate deaminase 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955435:13,029,377...13,040,972
Ensembl chrNW_004955435:13,028,916...13,043,928 		JBrowse link
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:34445196 NCBI chrNW_004955469:3,437,422...3,478,408
Ensembl chrNW_004955469:3,436,450...3,478,424 		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_004955413:33,624,460...33,629,491
Ensembl chrNW_004955413:33,623,525...33,629,771 		JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955468:11,898,786...11,924,341
Ensembl chrNW_004955468:11,898,915...11,922,400 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955580:286,092...332,657
Ensembl chrNW_004955580:269,100...333,471 		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_004955431:5,228,395...5,297,120
Ensembl chrNW_004955431:5,229,126...5,269,616 		JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 NCBI chrNW_004955415:32,182,536...32,457,511
Ensembl chrNW_004955415:32,183,442...32,400,595 		JBrowse link
G Cacna1g calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955451:11,136,885...11,194,321
Ensembl chrNW_004955451:11,137,214...11,194,036 		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_004955440:17,364,996...17,497,446
Ensembl chrNW_004955440:17,371,321...17,497,616 		JBrowse link
G Ccdc88c coiled-coil domain containing 88C ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955438:13,585,469...13,708,170 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_004955405:25,533,037...25,607,021
Ensembl chrNW_004955405:25,533,525...25,606,212 		JBrowse link
G Cln6 CLN6 transmembrane ER protein ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955450:7,876,572...7,885,305
Ensembl chrNW_004955450:7,876,522...7,886,581 		JBrowse link
G Coq4 coenzyme Q4 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25658047 PMID:25741868 PMID:26185144 PMID:28492532 PMID:31967322 More... NCBI chrNW_004955570:837,216...846,653
Ensembl chrNW_004955570:837,216...846,653 		JBrowse link
G Dab1 DAB adaptor protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955464:2,325,529...2,721,497
Ensembl chrNW_004955464:2,455,346...2,724,358 		JBrowse link
G Dars2 aspartyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955406:13,964,087...13,991,691
Ensembl chrNW_004955406:13,964,087...13,991,691 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955495:1,465,529...1,505,379
Ensembl chrNW_004955495:1,465,480...1,505,462 		JBrowse link
G Elovl4 ELOVL fatty acid elongase 4 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955502:7,764,451...7,774,503
Ensembl chrNW_004955502:7,764,359...7,774,572 		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_004955442:4,833,453...4,861,201
Ensembl chrNW_004955442:4,831,721...4,861,122 		JBrowse link
G Exosc8 exosome component 8 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955431:9,048,210...9,058,079
Ensembl chrNW_004955431:9,049,896...9,058,264 		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_004955484:2,726,496...2,775,763
Ensembl chrNW_004955484:2,726,362...2,775,903 		JBrowse link
G Fat2 FAT atypical cadherin 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955408:5,944,236...6,033,776
Ensembl chrNW_004955408:5,941,800...6,033,878 		JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955479:9,633,817...9,661,725
Ensembl chrNW_004955479:9,633,598...9,661,777 		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_004955438:10,667,807...10,704,386
Ensembl chrNW_004955438:10,667,807...10,704,384 		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_004955581:291,537...294,752 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_004955421:230,957...311,504
Ensembl chrNW_004955421:231,076...312,500 		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_004955418:19,346...30,514
Ensembl chrNW_004955418:19,346...30,514 		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_004955464:12,936,996...12,940,050 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_004955437:14,749,808...15,457,274
Ensembl chrNW_004955437:14,749,914...15,454,028 		JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955542:756,834...832,805
Ensembl chrNW_004955542:756,835...832,889 		JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar NCBI chrNW_004955467:10,399,768...10,423,249
Ensembl chrNW_004955467:10,399,768...10,422,712 		JBrowse link
G LOC102011427 chromosome unknown open reading frame, human C19orf12 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955468:7,903,438...7,914,038
Ensembl chrNW_004955468:7,903,432...7,914,038 		JBrowse link
G LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955444:14,274,818...14,446,068
Ensembl chrNW_004955444:14,275,345...14,444,426 		JBrowse link
G Lyst lysosomal trafficking regulator ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955492:4,161,976...4,371,637
Ensembl chrNW_004955492:4,209,749...4,369,762 		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_004955451:4,805,542...4,818,233
Ensembl chrNW_004955451:4,804,838...4,821,556 		JBrowse link
G Mtpap mitochondrial poly(A) polymerase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955429:21,768,011...21,792,481
Ensembl chrNW_004955429:21,767,547...21,794,885 		JBrowse link
G Naglu N-acetyl-alpha-glucosaminidase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955451:16,445,338...16,449,243
Ensembl chrNW_004955451:16,445,338...16,450,062 		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_004955486:8,785,199...8,801,914
Ensembl chrNW_004955486:8,785,174...8,791,247 		JBrowse link
G Pik3r5 phosphoinositide-3-kinase regulatory subunit 5 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955467:8,025,231...8,091,406
Ensembl chrNW_004955467:8,065,857...8,091,486 		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_004955413:24,431,592...24,482,229
Ensembl chrNW_004955413:24,429,589...24,482,537 		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_004955563:1,681,112...1,703,287
Ensembl chrNW_004955563:1,680,818...1,703,287 		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_004955452:17,518,345...17,549,112
Ensembl chrNW_004955452:17,529,115...17,549,664 		JBrowse link
G Pum1 pumilio RNA binding family member 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955452:9,487,725...9,623,565
Ensembl chrNW_004955452:9,487,725...9,624,066 		JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955497:3,701,515...3,752,627
Ensembl chrNW_004955497:3,706,882...3,754,663 		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_004955449:8,722,043...8,846,165
Ensembl chrNW_004955449:8,721,784...8,846,200 		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_004955547:2,086,215...2,201,300
Ensembl chrNW_004955547:2,086,178...2,195,971 		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_004955443:19,759,772...19,859,188
Ensembl chrNW_004955443:19,822,811...19,863,495 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:28708278 NCBI chrNW_004955513:1,718,432...1,776,133
Ensembl chrNW_004955513:1,718,377...1,777,021 		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_004955426:21,371,985...21,450,749
Ensembl chrNW_004955426:21,371,985...21,451,069 		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_004955418:4,316,790...4,342,748
Ensembl chrNW_004955418:4,316,790...4,341,973 		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_004955441:471,609...521,920
Ensembl chrNW_004955441:485,815...520,452 		JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955416:11,084,448...11,168,478
Ensembl chrNW_004955416:11,086,176...11,168,332 		JBrowse link
G Sptan1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955570:1,016,510...1,076,499
Ensembl chrNW_004955570:1,016,510...1,076,499 		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_004955419:963,829...1,000,759
Ensembl chrNW_004955419:963,829...1,000,759 		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_004955439:9,131,227...9,574,112 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_004955466:5,646,516...5,926,382 JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chrNW_004955417:10,097,488...10,137,959
Ensembl chrNW_004955417:10,097,472...10,138,644 		JBrowse link
G Ttbk2 tau tubulin kinase 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955416:9,412,297...9,518,561
Ensembl chrNW_004955416:9,412,297...9,559,655 		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_004955514:3,902,508...3,924,281
Ensembl chrNW_004955514:3,902,454...3,924,610 		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_004955413:4,108,044...4,116,413
Ensembl chrNW_004955413:4,108,052...4,115,760 		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_004955413:4,117,367...4,124,149
Ensembl chrNW_004955413:4,117,367...4,124,149 		JBrowse link
Spastic Ataxia 10, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coq4 coenzyme Q4 ISO ClinVar Annotator: match by term: Spastic ataxia 10, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26185144 PMID:28492532 More... NCBI chrNW_004955570:837,216...846,653
Ensembl chrNW_004955570:837,216...846,653 		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_004955467:10,375,017...10,391,546
Ensembl chrNW_004955467:10,375,017...10,392,363 		JBrowse link
G Chrne cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chrNW_004955467:10,312,620...10,318,700
Ensembl chrNW_004955467:10,312,620...10,318,638 		JBrowse link
G CUNH17orf107 chromosome unknown C17orf107 homolog ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chrNW_004955467:10,313,693...10,314,724
Ensembl chrNW_004955467:10,313,769...10,314,694 		JBrowse link
G Eno3 enolase 3 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chrNW_004955467:10,363,154...10,368,261
Ensembl chrNW_004955467:10,361,705...10,368,755 		JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chrNW_004955467:10,333,537...10,347,488
Ensembl chrNW_004955467:10,333,575...10,346,989 		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_004955467:10,391,957...10,397,212
Ensembl chrNW_004955467:10,392,219...10,397,168 		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_004955467:10,399,768...10,423,249
Ensembl chrNW_004955467:10,399,768...10,422,712 		JBrowse link
G Pfn1 profilin 1 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chrNW_004955467:10,357,838...10,360,651
Ensembl chrNW_004955467:10,357,838...10,360,651 		JBrowse link
G Rnf167 ring finger protein 167 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chrNW_004955467:10,352,650...10,357,214
Ensembl chrNW_004955467:10,353,291...10,357,021 		JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chrNW_004955467:10,349,378...10,352,649
Ensembl chrNW_004955467:10,349,378...10,355,368 		JBrowse link
G Spag7 sperm associated antigen 7 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chrNW_004955467:10,369,493...10,374,540
Ensembl chrNW_004955467:10,368,840...10,375,179 		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_004955403:2,967,541...2,970,443
Ensembl chrNW_004955403:2,968,574...2,970,387 		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_004955497:3,701,515...3,752,627
Ensembl chrNW_004955497:3,706,882...3,754,663 		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_004955429:21,768,011...21,792,481
Ensembl chrNW_004955429:21,767,547...21,794,885 		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_004955402:1,037,414...1,069,165
Ensembl chrNW_004955402:1,037,402...1,069,165 		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_004955402:1,071,135...1,081,385
Ensembl chrNW_004955402:1,070,858...1,081,385 		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_004955477:10,386,033...10,387,423
Ensembl chrNW_004955477:10,386,033...10,387,423 		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_004955416:8,090,034...8,131,605
Ensembl chrNW_004955416:8,090,034...8,132,870 		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_004955498:1,012,323...1,497,031
Ensembl chrNW_004955498:1,012,555...1,492,616 		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_004955486:5,115,469...5,890,028
Ensembl chrNW_004955486:5,116,677...5,872,167 		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_004955475:550,643...671,771
Ensembl chrNW_004955475:551,159...671,747 		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_004955486:8,857,693...8,921,821
Ensembl chrNW_004955486:8,857,693...8,921,821 		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_004955484:4,430,461...4,511,368
Ensembl chrNW_004955484:4,430,461...4,510,497 		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_004955416:11,279,866...11,429,365
Ensembl chrNW_004955416:11,308,846...11,429,365 		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_004955475:1,703,374...1,752,710
Ensembl chrNW_004955475:1,703,374...1,752,710 		JBrowse link
G Mecp2 methyl-CpG binding protein 2 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 OMIM
ClinVar		 PMID:1057790 PMID:1105898 PMID:1191367 PMID:1241840 PMID:2323808 More... NCBI chrNW_004955580:674,014...737,586
Ensembl chrNW_004955580:679,109...735,288 		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 7250
        muscular disease 2000
          Muscle Spasticity 119
            Cerebroretinal Microangiopathy with Calcifications and Cysts + 4
            Childhood-Onset Spasticity with Hyperglycinemia 1
            Diaminopentanuria 0
            Encephalopathy, Spastic Tetraparesis, and Hypogonadism 0
            Fitzsimmons Walson Mellor Syndrome 0
            Hengel-Maroofian-Schols syndrome 1
            Koone Rizzo Elias Syndrome 0
            Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome 1
            Methylenetetrahydrofolate Reductase Deficiency 2
            NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES 1
            NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY 1
            NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY 1
            NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA 0
            NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES 1
            NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS 1
            Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy 1
            Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity 1
            Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities 2
            Opticocochleodentate Degeneration 0
            Powell Venencie Gordon syndrome 0
            Seemanova Lesny Syndrome 0
            Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration 0
            USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE 1
            Webb-Dattani Syndrome 1
            X-linked intellectual disability-psychosis-macroorchidism syndrome 2
            dystonia 9 1
            neurodevelopmental disorder with spasticity and poor growth 1
            spastic ataxia + 80
            spastic paraplegia with deafness 0
            syndromic X-linked intellectual disability Turner type 4
Path 2
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  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        peripheral nervous system disease 3824
          neuropathy 3643
            neuromuscular disease 2847
              muscular disease 2000
                Muscle Spasticity 119
                  Cerebroretinal Microangiopathy with Calcifications and Cysts + 4
                  Childhood-Onset Spasticity with Hyperglycinemia 1
                  Diaminopentanuria 0
                  Encephalopathy, Spastic Tetraparesis, and Hypogonadism 0
                  Fitzsimmons Walson Mellor Syndrome 0
                  Hengel-Maroofian-Schols syndrome 1
                  Koone Rizzo Elias Syndrome 0
                  Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome 1
                  Methylenetetrahydrofolate Reductase Deficiency 2
                  NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES 1
                  NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY 1
                  NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY 1
                  NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA 0
                  NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES 1
                  NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS 1
                  Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy 1
                  Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity 1
                  Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities 2
                  Opticocochleodentate Degeneration 0
                  Powell Venencie Gordon syndrome 0
                  Seemanova Lesny Syndrome 0
                  Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration 0
                  USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE 1
                  Webb-Dattani Syndrome 1
                  X-linked intellectual disability-psychosis-macroorchidism syndrome 2
                  dystonia 9 1
                  neurodevelopmental disorder with spasticity and poor growth 1
                  spastic ataxia + 80
                  spastic paraplegia with deafness 0
                  syndromic X-linked intellectual disability Turner type 4
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