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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:Chronic Brain Damage
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Accession:DOID:9008381 term browser browse the term
Definition:A condition characterized by long-standing brain dysfunction or damage, usually of three months duration or longer. Potential etiologies include BRAIN INFARCTION; certain NEURODEGENERATIVE DISORDERS; CRANIOCEREBRAL TRAUMA; ANOXIA, BRAIN; ENCEPHALITIS; certain NEUROTOXICITY SYNDROMES; metabolic disorders (see BRAIN DISEASES, METABOLIC); and other conditions.
Synonyms:exact_synonym: Chronic Encephalopathy
 primary_id: MESH:D001925


show annotations for term's descendants           Sort by:
cerebral palsy term browser
Symbol Object Name Qualifiers 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 chr10:65,635,891...65,665,019
Ensembl chr10:65,622,434...65,664,022 		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 1:262,152,722...262,260,504
Ensembl chr 1:262,154,996...262,260,504 		JBrowse link
G Aif1 allograft inflammatory factor 1 IEP protein:increased expression:corpus callosum (rat) RGD PMID:19010395 RGD:2313028 NCBI chr20:3,651,435...3,657,341
Ensembl chr20:3,652,243...3,657,339 		JBrowse link
G Alox5ap arachidonate 5-lipoxygenase activating protein ISO DNA:SNP (human) RGD PMID:18977990 RGD:2313892 NCBI chr12:10,785,254...10,809,295
Ensembl chr12:10,785,257...10,817,038 		JBrowse link
G Arhgap31 Rho GTPase activating protein 31 ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr11:75,544,176...75,657,087
Ensembl chr11:75,544,040...75,661,076 		JBrowse link
G Atad5 ATPase family, AAA domain containing 5 ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr10:65,568,569...65,616,379
Ensembl chr10:65,568,591...65,616,376 		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 chr12:4,895,092...4,939,340
Ensembl chr12:4,895,447...4,936,194 		JBrowse link
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr 3:126,017,019...126,069,470
Ensembl chr 3:126,017,045...126,069,796 		JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr19:40,425,560...40,724,810
Ensembl chr19:40,425,560...40,724,599 		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 4:153,431,169...154,051,932
Ensembl chr 4:153,436,427...154,051,762 		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 4:72,138,739...72,168,113
Ensembl chr 4:72,139,162...72,168,128 		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 chr11:93,702,382...93,716,059
Ensembl chr11:93,702,360...93,716,059 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr16:84,885,597...84,996,482
Ensembl chr16:84,885,597...84,996,482 		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 chr16:84,749,672...84,885,520
Ensembl chr16:84,749,672...84,885,520 		JBrowse link
G Coprs coordinator of PRMT5 and differentiation stimulator ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr16:82,423,426...82,428,821
Ensembl chr16:82,407,580...82,431,737 		JBrowse link
G Crlf3 cytokine receptor-like factor 3 ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr10:65,521,296...65,559,162
Ensembl chr10:65,521,492...65,558,804 		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 chr14:95,378,626...95,551,358
Ensembl chr14:95,378,626...95,551,358 		JBrowse link
G Evi2a ecotropic viral integration site 2A ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr10:64,983,727...64,987,627
Ensembl chr10:64,983,705...64,999,516 		JBrowse link
G Evi2b ecotropic viral integration site 2B ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr10:64,970,659...64,972,277
Ensembl chr10:64,964,719...64,979,417 		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 3:98,051,958...98,065,246
Ensembl chr 3:98,051,960...98,065,246 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr18:155,237...187,186
Ensembl chr18:155,309...186,683 		JBrowse link
G Ganab glucosidase II alpha subunit ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:215,222,918...215,242,808
Ensembl chr 1:215,222,995...215,243,036 		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 5:171,357,778...171,424,489
Ensembl chr 5:171,357,797...171,424,488 		JBrowse link
G Gphn gephyrin ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:33073849 NCBI chr 6:102,687,405...103,216,679
Ensembl chr 6:102,687,423...103,216,674 		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 4:170,297,811...170,775,420
Ensembl chr 4:170,322,617...170,773,570 		JBrowse link
G Htt huntingtin ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr14:80,070,456...80,219,668
Ensembl chr14:80,070,456...80,219,668 		JBrowse link
G Kidins220 kinase D-interacting substrate 220 ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr 6:47,346,790...47,435,599
Ensembl chr 6:47,346,832...47,431,865 		JBrowse link
G Klhl3 kelch-like family member 3 ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr17:6,528,114...6,651,338
Ensembl chr17:6,528,487...6,651,338 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr 5:163,587,463...163,617,363
Ensembl chr 5:163,587,463...163,618,495 		JBrowse link
G Mir193a microRNA 193a ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr10:65,170,306...65,170,417 JBrowse link
G Nectin2 nectin cell adhesion molecule 2 ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr 1:88,500,086...88,535,474
Ensembl chr 1:88,500,087...88,535,305 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,804,266...65,034,946 		JBrowse link
G Nkx2-6 NK2 homeobox 6 ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr15:50,852,965...50,857,060
Ensembl chr15:50,852,646...50,857,059 		JBrowse link
G Omg oligodendrocyte-myelin glycoprotein ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr10:64,959,316...64,962,050
Ensembl chr10:64,936,145...64,962,050 		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 6:103,327,965...103,384,543
Ensembl chr 6:103,281,154...103,387,209 		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 chr18:56,770,348...56,809,228
Ensembl chr18:56,770,348...56,809,233 		JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr18:58,738,734...59,115,252
Ensembl chr18:58,738,740...59,115,215 		JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:9140401 PMID:9497260 PMID:9781039 PMID:9792409 PMID:10386614 More... NCBI chr10:7,468,371...7,489,574
Ensembl chr10:7,468,372...7,489,554 		JBrowse link
G Pnpla4 patatin like phospholipase domain containing 4 ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr  X:46,200,351...46,205,517
Ensembl chr  X:46,193,332...46,205,089 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:8980841 NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:32,659,346...32,665,173 		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 chr18:24,038,596...24,049,061
Ensembl chr18:24,038,597...24,048,964 		JBrowse link
G Pudp pseudouridine 5'-phosphatase ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr18:46,064,867...46,067,247
Ensembl chr18:46,063,292...46,067,443 		JBrowse link
G Rab11fip4 RAB11 family interacting protein 4 ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr10:65,048,070...65,156,086
Ensembl chr10:65,048,140...65,152,722 		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 6:37,083,030...37,085,204
Ensembl chr 6:37,075,015...37,112,772 		JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:10065021 PMID:16845400 PMID:17846997 PMID:18069026 PMID:18414213 More... NCBI chr15:40,717,252...40,770,826
Ensembl chr15:40,717,232...40,770,825 		JBrowse link
G Rnf135 ring finger protein 135 ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr10:65,668,441...65,687,671 JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar NCBI chr 3:166,179,742...166,214,448
Ensembl chr 3:166,181,588...166,214,410 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:18414213 PMID:24088041 PMID:25741868 PMID:26633545 NCBI chr 3:32,825,771...32,878,740
Ensembl chr 3:32,828,412...32,878,740 		JBrowse link
G Smarca4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:28492532 PMID:34813034 NCBI chr 8:28,438,370...28,535,071
Ensembl chr 8:28,443,810...28,535,070 		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 6:26,807,220...26,858,456
Ensembl chr 6:26,807,220...26,858,446 		JBrowse link
G Sts steroid sulfatase ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr  X:46,102,524...46,110,868
Ensembl chr  X:46,102,548...46,111,104 		JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr10:65,464,948...65,510,846
Ensembl chr10:65,464,969...65,510,846 		JBrowse link
G Syne2 spectrin repeat containing nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr 6:100,272,729...100,586,364
Ensembl chr 6:100,272,729...100,583,723 		JBrowse link
G Tefm transcription elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr10:65,617,547...65,622,042
Ensembl chr10:65,617,550...65,622,042 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:82,059,648...82,332,171 		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 7:131,992,151...131,996,850
Ensembl chr 7:131,968,770...131,996,035 		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 9:2,004,836...2,012,281
Ensembl chr 9:2,004,840...2,012,286 		JBrowse link
G Utp6 UTP6 small subunit processome component ISO ClinVar Annotator: match by term: Cerebral palsy ClinVar PMID:25741868 NCBI chr10:65,395,253...65,425,928
Ensembl chr10:65,395,253...65,425,928 		JBrowse link
Chronic Brain Injury term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:9214529 RGD:7495763 NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:88,481,385...88,485,855 		JBrowse link
G Tardbp TAR DNA binding protein ISO protein:increased expression:brain RGD PMID:20720505 RGD:5687179 NCBI chr 5:164,330,452...164,348,435
Ensembl chr 5:164,334,924...164,345,204 		JBrowse link
Halperin-Birk syndrome term browser
Symbol Object Name Qualifiers 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 chr14:9,518,655...9,573,579
Ensembl chr14:9,518,648...9,573,585 		JBrowse link
hereditary spastic paraplegia 47 term browser
Symbol Object Name Qualifiers 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 2:193,287,219...193,308,446
Ensembl chr 2:193,287,265...193,308,443 		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 2:194,006,926...194,018,971
Ensembl chr 2:194,006,919...194,018,968 		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 2:193,381,000...193,388,881
Ensembl chr 2:193,380,982...193,388,878 		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 2:194,019,158...194,032,516
Ensembl chr 2:194,027,397...194,032,516 		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 2:195,008,035...195,053,100
Ensembl chr 2:195,008,039...195,053,100 		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 2:193,234,546...193,271,301
Ensembl chr 2:193,243,526...193,271,301 		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 2:195,196,318...195,244,792
Ensembl chr 2:195,196,318...195,243,181 		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 2:193,998,350...194,006,873
Ensembl chr 2:193,998,354...194,006,864 		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 2:193,310,822...193,378,986
Ensembl chr 2:193,335,230...193,378,978 		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 2:193,937,261...193,988,247
Ensembl chr 2:193,937,261...193,975,164 		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 2:195,626,316...195,843,690
Ensembl chr 2:195,626,316...195,843,690 		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 2:194,635,686...194,705,014
Ensembl chr 2:194,638,182...194,700,940 		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 2:194,206,587...194,405,468
Ensembl chr 2:194,206,934...194,405,157 		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 2:194,982,014...195,003,513
Ensembl chr 2:194,982,014...195,003,442 		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 2:193,271,399...193,282,023
Ensembl chr 2:193,271,430...193,278,543 		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 2:193,932,665...193,935,494
Ensembl chr 2:193,932,665...193,935,494 		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 2:194,161,343...194,249,925
Ensembl chr 2:194,161,000...194,219,530 		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 2:194,966,854...194,972,228
Ensembl chr 2:194,966,950...194,972,227 		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 2:194,055,165...194,103,209
Ensembl chr 2:194,045,746...194,103,209 		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 2:194,975,586...194,981,637
Ensembl chr 2:194,975,242...194,983,745 		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 2:194,105,058...194,159,142
Ensembl chr 2:194,105,061...194,159,142 		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 2:193,206,490...193,214,321
Ensembl chr 2:193,206,490...193,217,004 		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 2:194,805,556...194,832,966
Ensembl chr 2:194,812,502...194,832,977 		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 2:195,052,939...195,122,755
Ensembl chr 2:195,052,922...195,175,857 		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 2:192,985,164...193,145,234
Ensembl chr 2:192,984,621...193,145,421 		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 2:193,781,051...193,840,741
Ensembl chr 2:193,781,476...193,840,741 		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 2:194,952,499...194,968,776
Ensembl chr 2:194,954,998...194,962,061 		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 2:193,495,743...193,588,595
Ensembl chr 2:193,500,755...193,581,156 		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 2:192,913,171...192,918,054
Ensembl chr 2:192,913,171...192,942,984 		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 7:92,773,625...92,825,532
Ensembl chr 7:92,773,625...92,825,532 		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 2:195,142,573...195,156,945
Ensembl chr 2:195,135,176...195,157,144 		JBrowse link
hereditary spastic paraplegia 50 term browser
Symbol Object Name Qualifiers 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: AP-4 deficiency syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:134,726,338...134,792,820
Ensembl chr 3:134,726,287...134,792,818 		JBrowse link
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 chr12:22,163,474...22,171,734
Ensembl chr12:22,163,466...22,171,731 		JBrowse link
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 50 ClinVar PMID:19559397 NCBI chr 8:55,423,945...55,425,729
Ensembl chr 8:55,423,825...55,425,729 		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 chr12:22,155,921...22,163,320
Ensembl chr12:22,155,921...22,163,771 		JBrowse link
hereditary spastic paraplegia 51 term browser
Symbol Object Name Qualifiers 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 3:134,726,338...134,792,820
Ensembl chr 3:134,726,287...134,792,818 		JBrowse link
G Sppl2a signal peptide peptidase-like 2A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 51 ClinVar PMID:20972249 NCBI chr 3:134,602,684...134,646,752
Ensembl chr 3:134,605,750...134,646,752 		JBrowse link
hereditary spastic paraplegia 52 term browser
Symbol Object Name Qualifiers 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: Hereditary spastic paraplegia 52 | 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 6:74,863,742...74,916,907
Ensembl chr 6:74,868,558...74,912,406 		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 chr 3:75,777,260...75,818,099
Ensembl chr 3:75,777,534...75,818,759 		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:32707086 More... NCBI chr 5:135,523,258...135,524,864
Ensembl chr 5:135,523,262...135,535,704 		JBrowse link
Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures term browser
Symbol Object Name Qualifiers 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 | ClinVar Annotator: match by term: WDR45B-related condition OMIM
ClinVar		 PMID:25741868 PMID:27431290 PMID:28492532 NCBI chr10:107,097,655...107,127,839
Ensembl chr10:107,097,755...107,127,831 		JBrowse link
Renpenning syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pqbp1 polyglutamine binding protein 1 ISO
ISS 		ClinVar Annotator: match by term: PQBP1-related condition | 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:17,275,445...17,280,018
Ensembl chr  X:17,275,759...17,280,016 		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:17,280,072...17,288,928
Ensembl chr  X:17,280,074...17,288,613 		JBrowse link
spastic cerebral palsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbx8 chromobox 8 ISO ClinVar Annotator: match by term: Spastic cerebral palsy ClinVar PMID:25741868 NCBI chr10:104,793,062...104,795,500
Ensembl chr10:104,793,062...104,795,500 		JBrowse link
G Fbxo31 F-box protein 31 ISO ClinVar Annotator: match by term: Spastic cerebral palsy ClinVar PMID:25741868 PMID:32989326 PMID:33675180 NCBI chr19:66,533,437...66,564,674
Ensembl chr19:66,533,437...66,564,674 		JBrowse link
spastic diplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Spastic diplegia ClinVar PMID:24686847 PMID:25243380 PMID:25741868 NCBI chr 3:67,635,924...67,683,968
Ensembl chr 3:67,637,545...67,683,968 		JBrowse link
G Zdhhc15 zinc finger DHHC-type palmitoyltransferase 15 ISO ClinVar Annotator: match by term: Spastic diplegia ClinVar NCBI chr  X:73,633,977...73,767,451
Ensembl chr  X:73,639,819...73,767,508 		JBrowse link
spastic hemiplegia term browser
Symbol Object Name Qualifiers 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 2:185,982,042...185,999,155
Ensembl chr 2:185,982,086...185,999,113 		JBrowse link
spastic quadriplegic cerebral palsy 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: Cerebral palsy spastic quadriplegic ClinVar NCBI chr 3:75,777,260...75,818,099
Ensembl chr 3:75,777,534...75,818,759 		JBrowse link
spastic quadriplegic cerebral palsy 2 term browser
Symbol Object Name Qualifiers 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 1:232,381,720...232,500,834
Ensembl chr 1:232,445,658...232,500,839 		JBrowse link
spastic quadriplegic cerebral palsy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add3 adducin 3 ISO ClinVar Annotator: match by term: ADD3-related condition | 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 1:262,152,722...262,260,504
Ensembl chr 1:262,154,996...262,260,504 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    disease of anatomical entity 18458
      nervous system disease 14370
        central nervous system disease 12648
          brain disease 11868
            Chronic Brain Damage 109
              Chronic Brain Injury + 2
              Persistent Vegetative State 0
              cerebral palsy + 107
paths to the root