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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:cerebral palsy
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Accession:DOID:1969 term browser browse the term
Definition:A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance. (DO)
Synonyms:exact_synonym: CP;   congenital cerebral palsy;   infantile cerebral palsy
 narrow_synonym: RHOB-RELATED DISORDER;   Rolandic type cerebral palsy;   athetoid cerebral palsies;   athetoid cerebral palsy;   atonic cerebral palsy;   dystonic-rigid cerebral palsies;   dystonic-rigid cerebral palsy;   hypotonic cerebral palsies;   hypotonic cerebral palsy
 primary_id: MESH:D002547
 xref: EFO:1000632;   ICD10CM:G80;   NCI:C34460
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
cerebral palsy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adap2 ArfGAP with dual PH domains 2 ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr10:65,138,006...65,166,147
Ensembl chr10:65,138,020...65,165,604 		JBrowse link
G Add3 adducin 3 ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:23836506 PMID:25741868 PMID:30369941 PMID:36046955 NCBI chr 1:252,147,341...252,255,126
Ensembl chr 1:252,147,386...252,255,124 		JBrowse link
G Aif1 allograft inflammatory factor 1 IEP protein:increased expression:corpus callosum (rat) RGD PMID:19010395 RGD:2313028 NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668 		JBrowse link
G Alox5ap arachidonate 5-lipoxygenase activating protein ISO DNA:SNP (human) RGD PMID:18977990 RGD:2313892 NCBI chr12:5,748,941...5,772,986
Ensembl chr12:5,748,944...5,772,986 		JBrowse link
G Arhgap31 Rho GTPase activating protein 31 ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr11:62,038,635...62,151,564
Ensembl chr11:62,038,635...62,151,564 		JBrowse link
G Atad5 ATPase family, AAA domain containing 5 ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr10:65,070,682...65,118,489
Ensembl chr10:65,070,689...65,117,845 		JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:668580 PMID:1446381 PMID:9536098 PMID:17576681 PMID:19530235 More... NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567 		JBrowse link
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr 3:105,563,089...105,615,547
Ensembl chr 3:105,563,138...105,615,547 		JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648 		JBrowse link
G Clcn1 chloride voltage-gated channel 1 ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:7874130 PMID:8533761 PMID:8571958 PMID:8845168 PMID:8857727 More... NCBI chr 4:71,171,949...71,201,483
Ensembl chr 4:71,172,547...71,199,984 		JBrowse link
G Clcn2 chloride voltage-gated channel 2 ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:19191339 PMID:23632988 PMID:25741868 PMID:28492532 NCBI chr11:80,197,741...80,211,657
Ensembl chr11:80,198,153...80,211,657 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412 		JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:22209246 PMID:22209247 PMID:22333902 PMID:24001601 PMID:25741868 More... NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839 		JBrowse link
G Coprs coordinator of PRMT5 and differentiation stimulator ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr16:75,721,264...75,726,375
Ensembl chr16:75,720,061...75,726,375 		JBrowse link
G Crlf3 cytokine receptor-like factor 3 ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr10:65,024,228...65,060,746
Ensembl chr10:65,023,388...65,060,670 		JBrowse link
G Egfr epidermal growth factor receptor ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:7630400 PMID:25741868 PMID:28492532 PMID:28726809 PMID:29899996 NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382 		JBrowse link
G Elane elastase, neutrophil expressed ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100 		JBrowse link
G Evi2a ecotropic viral integration site 2A ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr10:64,485,760...64,489,660
Ensembl chr10:64,485,200...64,489,843 		JBrowse link
G Evi2b ecotropic viral integration site 2B ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr10:64,472,693...64,474,311
Ensembl chr10:64,471,505...64,481,560 		JBrowse link
G F2 coagulation factor II, thrombin ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:2222810 PMID:2429850 PMID:2825773 PMID:6305407 PMID:6405779 More... NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857 		JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124 		JBrowse link
G Gphn gephyrin ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:33073849 NCBI chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612 		JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279 		JBrowse link
G Htt huntingtin ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr14:75,845,836...75,996,094
Ensembl chr14:75,845,836...75,995,070 		JBrowse link
G Kidins220 kinase D-interacting substrate 220 ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr 6:41,618,207...41,706,990
Ensembl chr 6:41,618,294...41,703,256 		JBrowse link
G Klhl3 kelch-like family member 3 ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr17:6,523,089...6,645,971
Ensembl chr17:6,521,912...6,642,154 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342 		JBrowse link
G Mir193a microRNA 193a ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr10:64,672,343...64,672,454
Ensembl chr10:64,672,343...64,672,454 		JBrowse link
G Nectin2 nectin cell adhesion molecule 2 ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr 1:79,372,123...79,407,379
Ensembl chr 1:79,372,119...79,407,360 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
G Nkx2-6 NK2 homeobox 6 ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr15:44,443,151...44,447,248
Ensembl chr15:44,443,101...44,447,247 		JBrowse link
G Omg oligodendrocyte-myelin glycoprotein ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr10:64,461,350...64,464,084
Ensembl chr10:64,461,350...64,464,084 		JBrowse link
G Pals1 protein associated with LIN7 1, MAGUK p55 family member ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:33073849 NCBI chr 6:97,548,133...97,654,163
Ensembl chr 6:97,548,630...97,653,305 		JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:24796542 PMID:25741868 PMID:28492532 PMID:31064749 PMID:34494111 NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843 		JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216 		JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 More... NCBI chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098 		JBrowse link
G Pnpla4 patatin like phospholipase domain containing 4 ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr  X:42,313,554...42,318,451
Ensembl chr  X:42,305,373...42,318,552 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:8980841 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:1347706 PMID:24796542 PMID:25741868 PMID:31064749 NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133 		JBrowse link
G Pudp pseudouridine 5'-phosphatase ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr18:43,878,374...43,880,756
Ensembl chr18:43,878,080...43,880,791 		JBrowse link
G Rab11fip4 RAB11 family interacting protein 4 ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr10:64,550,109...64,658,123
Ensembl chr10:64,550,177...64,654,759 		JBrowse link
G Rhob ras homolog family member B ISO ClinVar Annotator: match by term: RHOB-related disorder ClinVar PMID:25741868 PMID:32989326 NCBI chr 6:31,363,752...31,365,926
Ensembl chr 6:31,363,548...31,366,108 		JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:16845400 PMID:17846997 PMID:18069026 PMID:18414213 PMID:18754903 More... NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118 		JBrowse link
G Rnf135 ring finger protein 135 ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr10:65,170,560...65,189,791
Ensembl chr10:65,170,560...65,262,804 		JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:18414213 PMID:24088041 PMID:25741868 PMID:26633545 NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803 		JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:28492532 PMID:34813034 NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975 		JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:11015453 PMID:11809724 PMID:15248095 PMID:15326248 PMID:16240363 More... NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954 		JBrowse link
G Sts steroid sulfatase ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr  X:42,225,131...42,233,403
Ensembl chr  X:42,225,372...42,233,402 		JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr10:64,967,035...65,012,916
Ensembl chr10:64,966,967...65,012,738 		JBrowse link
G Syne2 spectrin repeat containing nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr 6:94,537,088...94,848,085
Ensembl chr 6:94,537,088...94,848,064 		JBrowse link
G Tefm transcription elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr10:65,119,657...65,124,233
Ensembl chr10:65,119,659...65,124,486 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:24860126 PMID:25666757 PMID:25741868 PMID:28492532 PMID:30744660 More... NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186 		JBrowse link
G Tubb4a tubulin, beta 4A class IVa ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:18851904 PMID:24526230 PMID:24850488 PMID:25085639 PMID:25326637 More... NCBI chr 9:1,917,841...1,925,286
Ensembl chr 9:1,917,845...1,925,291 		JBrowse link
G Utp6 UTP6 small subunit processome component ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr10:64,897,321...64,927,997
Ensembl chr10:64,897,328...64,927,997 		JBrowse link
Halperin-Birk syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sec31a SEC31 homolog A, COPII coat complex component ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies OMIM
ClinVar		 PMID:25741868 PMID:30464055 NCBI chr14:9,214,324...9,269,281
Ensembl chr14:9,214,349...9,269,273 		JBrowse link
hereditary spastic paraplegia 47 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ampd1 adenosine monophosphate deaminase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938 		JBrowse link
G Ap4b1 adaptor related protein complex 4 subunit beta 1 ISO ClinVar Annotator: match by term: AP4-related intellectual disability and spastic paraplegia | ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21440262 More... NCBI chr 2:191,318,485...191,330,531
Ensembl chr 2:191,318,482...191,330,531 		JBrowse link
G Bcas2 BCAS2, pre-mRNA processing factor ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:190,692,503...190,700,386
Ensembl chr 2:190,692,461...190,700,389 		JBrowse link
G Bcl2l15 Bcl2-like 15 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:191,338,959...191,344,078
Ensembl chr 2:191,338,959...191,344,078 		JBrowse link
G Capza1 capping actin protein of muscle Z-line subunit alpha 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:192,319,696...192,364,755
Ensembl chr 2:192,319,702...192,364,480 		JBrowse link
G Csde1 cold shock domain containing E1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:190,546,015...190,582,787
Ensembl chr 2:190,554,980...190,582,784 		JBrowse link
G Cttnbp2nl CTTNBP2 N-terminal like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:192,507,963...192,554,548
Ensembl chr 2:192,507,963...192,541,101 		JBrowse link
G Dclre1b DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:25741868 PMID:28492532 NCBI chr 2:191,309,909...191,318,399
Ensembl chr 2:191,309,913...191,318,423 		JBrowse link
G Dennd2c DENN domain containing 2C ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:190,622,357...190,690,489
Ensembl chr 2:190,622,940...190,690,488 		JBrowse link
G Hipk1 homeodomain interacting protein kinase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:191,248,817...191,299,787
Ensembl chr 2:191,248,817...191,298,902 		JBrowse link
G Kcnd3 potassium voltage-gated channel subfamily D member 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:192,937,950...193,155,345
Ensembl chr 2:192,937,950...193,155,345 		JBrowse link
G Lrig2 leucine-rich repeats and immunoglobulin-like domains 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:191,947,322...192,012,996
Ensembl chr 2:191,949,819...192,012,579 		JBrowse link
G Magi3 membrane associated guanylate kinase, WW and PDZ domain containing 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:191,514,726...191,717,048
Ensembl chr 2:191,518,506...191,716,735 		JBrowse link
G Mov10 Mov10 RNA helicase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:192,292,041...192,315,142
Ensembl chr 2:192,293,470...192,315,083 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626 		JBrowse link
G Olfml3 olfactomedin-like 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:191,244,221...191,247,050
Ensembl chr 2:191,244,221...191,247,050 		JBrowse link
G Phtf1 putative homeodomain transcription factor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:191,470,849...191,537,399
Ensembl chr 2:191,473,130...191,512,078 		JBrowse link
G Ppm1j protein phosphatase, Mg2+/Mn2+ dependent, 1J ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:192,278,597...192,283,883
Ensembl chr 2:192,278,517...192,283,882 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779 		JBrowse link
G Rhoc ras homolog family member C ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:192,287,065...192,293,292
Ensembl chr 2:192,287,130...192,295,306 		JBrowse link
G Rsbn1 round spermatid basic protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:191,416,631...191,470,711
Ensembl chr 2:191,416,631...191,470,711 		JBrowse link
G Sike1 suppressor of IKBKE 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:190,518,002...190,525,833
Ensembl chr 2:190,518,002...190,525,832 		JBrowse link
G Slc16a1 solute carrier family 16 member 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:192,123,755...192,144,617
Ensembl chr 2:192,124,289...192,144,611 		JBrowse link
G St7l suppression of tumorigenicity 7-like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:192,364,594...192,434,414
Ensembl chr 2:192,364,594...192,487,190 		JBrowse link
G Sycp1 synaptonemal complex protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:190,296,688...190,456,687
Ensembl chr 2:190,296,954...190,456,737 		JBrowse link
G Syt6 synaptotagmin 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:191,093,009...191,152,283
Ensembl chr 2:191,093,007...191,149,956 		JBrowse link
G Tafa3 TAFA chemokine like family member 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:192,264,153...192,280,356
Ensembl chr 2:192,267,093...192,274,019 		JBrowse link
G Trim33 tripartite motif-containing 33 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:190,812,329...190,892,663
Ensembl chr 2:190,807,243...190,888,814 		JBrowse link
G Tshb thyroid stimulating hormone subunit beta ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:190,224,676...190,229,559
Ensembl chr 2:190,224,676...190,229,559 		JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:24065355 PMID:25614869 PMID:25741868 PMID:29768361 PMID:31911435 NCBI chr 7:90,884,192...90,936,096
Ensembl chr 7:90,884,197...90,936,103 		JBrowse link
G Wnt2b Wnt family member 2B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 NCBI chr 2:192,454,226...192,468,599
Ensembl chr 2:192,453,824...192,470,308 		JBrowse link
hereditary spastic paraplegia 50 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap4m1 adaptor related protein complex 4 subunit mu 1 ISO ClinVar Annotator: match by term: AP-4 deficiency syndrome | ClinVar Annotator: match by term: Hereditary spastic paraplegia 50
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21937992 More... NCBI chr12:17,049,766...17,055,954
Ensembl chr12:17,049,777...17,058,026 		JBrowse link
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 50 ClinVar PMID:19559397 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G Mcm7 minichromosome maintenance complex component 7 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 50 ClinVar PMID:9536098 PMID:17576681 PMID:28492532 PMID:32979048 NCBI chr12:17,042,207...17,049,470
Ensembl chr12:17,042,212...17,050,063 		JBrowse link
hereditary spastic paraplegia 51 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap4e1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 51 OMIM
ClinVar		 PMID:18414213 PMID:20972249 PMID:21937992 PMID:23472171 PMID:25167861 More... NCBI chr 3:114,272,997...114,339,484
Ensembl chr 3:114,272,956...114,336,752 		JBrowse link
G Sppl2a signal peptide peptidase-like 2A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 51 ClinVar PMID:20972249 NCBI chr 3:114,149,337...114,193,408
Ensembl chr 3:114,151,069...114,193,264 		JBrowse link
hereditary spastic paraplegia 52 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap4s1 adaptor related protein complex 4 subunit sigma 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 52, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21620353 PMID:23167973 PMID:24700674 More... NCBI chr 6:69,133,403...69,174,488
Ensembl chr 6:69,133,373...69,175,496 		JBrowse link
Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities term browser
Symbol Object Name 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 chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333 		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:15571623 PMID:25741868 PMID:32165824 More... NCBI chr 5:130,286,627...130,288,233
Ensembl chr 5:130,286,631...130,288,233 		JBrowse link
Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr45b WD repeat domain 45B ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures OMIM
ClinVar		 PMID:25741868 PMID:27431290 PMID:28492532 NCBI chr10:106,597,558...106,629,488
Ensembl chr10:106,599,364...106,629,441 		JBrowse link
Renpenning syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pqbp1 polyglutamine binding protein 1 ISO
ISS		 ClinVar Annotator: match by term: Renpenning syndrome
OMIM:309500
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:6711604 PMID:9545405 PMID:13981686 PMID:14634649 PMID:15024694 More... NCBI chr  X:14,603,516...14,608,091
Ensembl chr  X:14,603,539...14,608,087 		JBrowse link
G Slc35a2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: Renpenning syndrome ClinVar PMID:25741868 PMID:28492532 PMID:32903913 NCBI chr  X:14,608,145...14,616,937
Ensembl chr  X:14,608,055...14,616,678 		JBrowse link
spastic cerebral palsy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxo31 F-box protein 31 ISO ClinVar Annotator: match by term: Spastic cerebral palsy ClinVar PMID:32989326 PMID:33675180 NCBI chr19:49,624,813...49,656,052
Ensembl chr19:49,627,686...49,656,010 		JBrowse link
spastic diplegia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zdhhc15 zinc finger DHHC-type palmitoyltransferase 15 ISO ClinVar Annotator: match by term: Spastic diplegia ClinVar NCBI chr  X:69,568,086...69,701,756
Ensembl chr  X:69,574,124...69,701,756 		JBrowse link
spastic hemiplegia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tars2 threonyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Spastic hemiplegia ClinVar PMID:25741868 PMID:34508595 NCBI chr 2:183,293,095...183,310,210
Ensembl chr 2:183,293,097...183,310,184 		JBrowse link
spastic quadriplegic cerebral palsy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gad1 glutamate decarboxylase 1 ISO ClinVar Annotator: match by term: Cerebral palsy spastic quadriplegic ClinVar NCBI chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333 		JBrowse link
spastic quadriplegic cerebral palsy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kank1 KN motif and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 2 | ClinVar Annotator: match by term: KANK1-related condition | ClinVar Annotator: match by term: KANK1-related disorder
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 2 | ClinVar Annotator: match by term: KANK1- Related Disorder | ClinVar Annotator: match by term: KANK1-related condition		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16301218 PMID:17576681 PMID:25741868 PMID:28106320 More... NCBI chr 1:222,877,962...223,074,514
Ensembl chr 1:222,877,622...223,074,514 		JBrowse link
spastic quadriplegic cerebral palsy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add3 adducin 3 ISO ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 3 OMIM
ClinVar		 PMID:23836506 PMID:25741868 PMID:28492532 PMID:29768408 PMID:30369941 More... NCBI chr 1:252,147,341...252,255,126
Ensembl chr 1:252,147,386...252,255,124 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19065
    disease of anatomical entity 18355
      nervous system disease 14221
        central nervous system disease 12556
          brain disease 11776
            Chronic Brain Damage 107
              cerebral palsy 105
                Dysmyelination with Jaundice 0
                Neuhauser Syndrome 0
                Renpenning syndrome 2
                ataxic cerebral palsy 0
                dyskinetic cerebral palsy 0
                mixed cerebral palsy 0
                spastic cerebral palsy + 46
paths to the root