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Pediatric Disease Annotations & Medicines



   basal ganglia disease
  

Disease ID 1042
Disease basal ganglia disease
Definition
Diseases of the BASAL GANGLIA including the PUTAMEN; GLOBUS PALLIDUS; claustrum; AMYGDALA; and CAUDATE NUCLEUS. DYSKINESIAS (most notably involuntary movements and alterations of the rate of movement) represent the primary clinical manifestations of these disorders. Common etiologies include CEREBROVASCULAR DISORDERS; NEURODEGENERATIVE DISEASES; and CRANIOCEREBRAL TRAUMA.
Synonym
abnormality of the basal ganglia
anomaly of the basal ganglia
basal disorder ganglia
basal ganglia dis
basal ganglia diseases
basal ganglia diseases [disease/finding]
basal ganglia disorder
basal ganglia disorders
basal ganglia--diseases
disease of basal ganglia
disease of basal ganglia (disorder)
disease of basal ganglia, nos
disorder of basal ganglia
disorder of basal ganglia (disorder)
DOID
UMLS
C0004782
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:1)
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:13)
DRD2  |  1813  |  CTD_human
GRN  |  2896  |  GHR
HTR2A  |  3356  |  CTD_human
PRL  |  5617  |  CTD_human
SLC19A3  |  80704  |  CTD_human;GHR
DRD3  |  1814  |  CTD_human
PDGFB  |  5155  |  CTD_human
SLC20A2  |  6575  |  CTD_human
PDE8B  |  8622  |  CTD_human
PDGFRB  |  5159  |  CTD_human
CYP2D6  |  1565  |  CTD_human
XPR1  |  9213  |  CTD_human
MICU1  |  10367  |  CTD_human
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:3)
1565  |  CYP2D6  |  infer
1813  |  DRD2  |  infer
3358  |  HTR2C  |  infer
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:357)
6315  |  ATXN8OS  |  DISEASES
100379571  |  BACE1-AS  |  DISEASES
497258  |  BDNF-AS  |  DISEASES
2896  |  GRN  |  DISEASES
54700  |  RRN3  |  DISEASES
8079  |  MLF2  |  DISEASES
78990  |  OTUB2  |  DISEASES
5816  |  PVALB  |  DISEASES
6729  |  SRP54  |  DISEASES
9362  |  CPNE6  |  DISEASES
5020  |  OXT  |  DISEASES
27344  |  PCSK1N  |  DISEASES
4741  |  NEFM  |  DISEASES
3191  |  HNRNPL  |  DISEASES
6671  |  SP4  |  DISEASES
51510  |  CHMP5  |  DISEASES
6827  |  SUPT4H1  |  DISEASES
5216  |  PFN1  |  DISEASES
10014  |  HDAC5  |  DISEASES
4126  |  MANBA  |  DISEASES
1075  |  CTSC  |  DISEASES
8683  |  SRSF9  |  DISEASES
1432  |  MAPK14  |  DISEASES
7942  |  TFEB  |  DISEASES
57590  |  WDFY1  |  DISEASES
10560  |  SLC19A2  |  DISEASES
1509  |  CTSD  |  DISEASES
10971  |  YWHAQ  |  DISEASES
112752  |  IFT43  |  DISEASES
23435  |  TARDBP  |  DISEASES
119587  |  CPXM2  |  DISEASES
23682  |  RAB38  |  DISEASES
6431  |  SRSF6  |  DISEASES
10365  |  KLF2  |  DISEASES
7277  |  TUBA4A  |  DISEASES
7425  |  VGF  |  DISEASES
55837  |  EAPP  |  DISEASES
79882  |  ZC3H14  |  DISEASES
9509  |  ADAMTS2  |  DISEASES
84271  |  POLDIP3  |  DISEASES
348  |  APOE  |  DISEASES
10452  |  TOMM40  |  DISEASES
25814  |  ATXN10  |  DISEASES
2521  |  FUS  |  DISEASES
79727  |  LIN28A  |  DISEASES
55145  |  THAP1  |  DISEASES
6616  |  SNAP25  |  DISEASES
1116  |  CHI3L1  |  DISEASES
55140  |  ELP3  |  DISEASES
6272  |  SORT1  |  DISEASES
4440  |  MSI1  |  DISEASES
10574  |  CCT7  |  DISEASES
9958  |  USP15  |  DISEASES
80704  |  SLC19A3  |  DISEASES
6426  |  SRSF1  |  DISEASES
84630  |  TTBK1  |  DISEASES
6653  |  SORL1  |  DISEASES
51187  |  RSL24D1  |  DISEASES
10060  |  ABCC9  |  DISEASES
88455  |  ANKRD13A  |  DISEASES
5159  |  PDGFRB  |  DISEASES
84888  |  SPPL2A  |  DISEASES
8766  |  RAB11A  |  DISEASES
23197  |  FAF2  |  DISEASES
79817  |  MOB3B  |  DISEASES
29855  |  UBN1  |  DISEASES
284058  |  KANSL1  |  DISEASES
54927  |  CHCHD3  |  DISEASES
7305  |  TYROBP  |  DISEASES
10133  |  OPTN  |  DISEASES
829  |  CAPZA1  |  DISEASES
7353  |  UFD1L  |  DISEASES
6855  |  SYP  |  DISEASES
2033  |  EP300  |  DISEASES
4854  |  NOTCH3  |  DISEASES
25978  |  CHMP2B  |  DISEASES
832  |  CAPZB  |  DISEASES
56925  |  LXN  |  DISEASES
57679  |  ALS2  |  DISEASES
590  |  BCHE  |  DISEASES
57600  |  FNIP2  |  DISEASES
5709  |  PSMD3  |  DISEASES
55287  |  TMEM40  |  DISEASES
53371  |  NUP54  |  DISEASES
7879  |  RAB7A  |  DISEASES
10371  |  SEMA3A  |  DISEASES
793  |  CALB1  |  DISEASES
7472  |  WNT2  |  DISEASES
1021  |  CDK6  |  DISEASES
84920  |  ALG10  |  DISEASES
146057  |  TTBK2  |  DISEASES
6647  |  SOD1  |  DISEASES
6531  |  SLC6A3  |  DISEASES
51002  |  TPRKB  |  DISEASES
6574  |  SLC20A1  |  DISEASES
5746  |  PTH2R  |  DISEASES
29114  |  TAGLN3  |  DISEASES
56832  |  IFNK  |  DISEASES
10280  |  SIGMAR1  |  DISEASES
4253  |  CTAGE5  |  DISEASES
22948  |  CCT5  |  DISEASES
196513  |  DCP1B  |  DISEASES
5860  |  QDPR  |  DISEASES
151050  |  KANSL1L  |  DISEASES
10056  |  FARSB  |  DISEASES
5741  |  PTH  |  DISEASES
4900  |  NRGN  |  DISEASES
7345  |  UCHL1  |  DISEASES
351  |  APP  |  DISEASES
245972  |  ATP6V0D2  |  DISEASES
129831  |  RBM45  |  DISEASES
10694  |  CCT8  |  DISEASES
23057  |  NMNAT2  |  DISEASES
1636  |  ACE  |  DISEASES
84303  |  CHCHD6  |  DISEASES
1476  |  CSTB  |  DISEASES
6294  |  SAFB  |  DISEASES
55585  |  UBE2Q1  |  DISEASES
9551  |  ATP5J2  |  DISEASES
54165  |  DCUN1D1  |  DISEASES
7447  |  VSNL1  |  DISEASES
5274  |  SERPINI1  |  DISEASES
23001  |  WDFY3  |  DISEASES
7802  |  DNALI1  |  DISEASES
55255  |  WDR41  |  DISEASES
10915  |  TCERG1  |  DISEASES
4131  |  MAP1B  |  DISEASES
4982  |  TNFRSF11B  |  DISEASES
120892  |  LRRK2  |  DISEASES
55737  |  VPS35  |  DISEASES
6447  |  SCG5  |  DISEASES
245802  |  MS4A6E  |  DISEASES
4130  |  MAP1A  |  DISEASES
6240  |  RRM1  |  DISEASES
762  |  CA4  |  DISEASES
4218  |  RAB8A  |  DISEASES
2819  |  GPD1  |  DISEASES
80700  |  UBXN6  |  DISEASES
3960  |  LGALS4  |  DISEASES
27254  |  CSDC2  |  DISEASES
253959  |  RALGAPA1  |  DISEASES
3308  |  HSPA4  |  DISEASES
43  |  ACHE  |  DISEASES
7324  |  UBE2E1  |  DISEASES
7314  |  UBB  |  DISEASES
4135  |  MAP6  |  DISEASES
3008  |  HIST1H1E  |  DISEASES
5986  |  RFNG  |  DISEASES
84153  |  RNASEH2C  |  DISEASES
6573  |  SLC19A1  |  DISEASES
144245  |  ALG10B  |  DISEASES
23209  |  MLC1  |  DISEASES
8567  |  MADD  |  DISEASES
836  |  CASP3  |  DISEASES
374879  |  ZNF699  |  DISEASES
10432  |  RBM14  |  DISEASES
4744  |  NEFH  |  DISEASES
26986  |  PABPC1  |  DISEASES
6448  |  SGSH  |  DISEASES
4691  |  NCL  |  DISEASES
8851  |  CDK5R1  |  DISEASES
23621  |  BACE1  |  DISEASES
57592  |  ZNF687  |  DISEASES
2535  |  FZD2  |  DISEASES
9625  |  AATK  |  DISEASES
8408  |  ULK1  |  DISEASES
374819  |  LRRC37A3  |  DISEASES
9884  |  LRRC37A  |  DISEASES
5663  |  PSEN1  |  DISEASES
5902  |  RANBP1  |  DISEASES
8905  |  AP1S2  |  DISEASES
29110  |  TBK1  |  DISEASES
5155  |  PDGFB  |  DISEASES
113277  |  TMEM106A  |  DISEASES
375287  |  RBM43  |  DISEASES
55666  |  NPLOC4  |  DISEASES
10196  |  PRMT3  |  DISEASES
9939  |  RBM8A  |  DISEASES
3916  |  LAMP1  |  DISEASES
10013  |  HDAC6  |  DISEASES
3842  |  TNPO1  |  DISEASES
9094  |  UNC119  |  DISEASES
80323  |  CCDC68  |  DISEASES
55775  |  TDP1  |  DISEASES
79621  |  RNASEH2B  |  DISEASES
57142  |  RTN4  |  DISEASES
3300  |  DNAJB2  |  DISEASES
3983  |  ABLIM1  |  DISEASES
6622  |  SNCA  |  DISEASES
23583  |  SMUG1  |  DISEASES
51338  |  MS4A4A  |  DISEASES
3006  |  HIST1H1C  |  DISEASES
817  |  CAMK2D  |  DISEASES
29102  |  DROSHA  |  DISEASES
11315  |  PARK7  |  DISEASES
79956  |  ERMP1  |  DISEASES
6575  |  SLC20A2  |  DISEASES
349565  |  NMNAT3  |  DISEASES
4137  |  MAPT  |  DISEASES
26206  |  SPAG8  |  DISEASES
3178  |  HNRNPA1  |  DISEASES
23394  |  ADNP  |  DISEASES
9474  |  ATG5  |  DISEASES
875  |  CBS  |  DISEASES
29978  |  UBQLN2  |  DISEASES
114815  |  SORCS1  |  DISEASES
10533  |  ATG7  |  DISEASES
3181  |  HNRNPA2B1  |  DISEASES
3064  |  HTT  |  DISEASES
5718  |  PSMD12  |  DISEASES
26019  |  UPF2  |  DISEASES
3187  |  HNRNPH1  |  DISEASES
3084  |  NRG1  |  DISEASES
6421  |  SFPQ  |  DISEASES
5887  |  RAD23B  |  DISEASES
55288  |  RHOT1  |  DISEASES
112476  |  PRRT2  |  DISEASES
7415  |  VCP  |  DISEASES
5094  |  PCBP2  |  DISEASES
653440  |  WASH6P  |  DISEASES
26275  |  HIBCH  |  DISEASES
6427  |  SRSF2  |  DISEASES
5575  |  PRKAR1B  |  DISEASES
2107  |  ETF1  |  DISEASES
6241  |  RRM2  |  DISEASES
11076  |  TPPP  |  DISEASES
55833  |  UBAP2  |  DISEASES
6533  |  SLC6A6  |  DISEASES
65264  |  UBE2Z  |  DISEASES
219972  |  MPEG1  |  DISEASES
9782  |  MATR3  |  DISEASES
26047  |  CNTNAP2  |  DISEASES
1639  |  DCTN1  |  DISEASES
5664  |  PSEN2  |  DISEASES
5071  |  PARK2  |  DISEASES
343035  |  RD3  |  DISEASES
127833  |  SYT2  |  DISEASES
25802  |  LMOD1  |  DISEASES
9213  |  XPR1  |  DISEASES
2205  |  FCER1A  |  DISEASES
1382  |  CRABP2  |  DISEASES
7073  |  TIAL1  |  DISEASES
26227  |  PHGDH  |  DISEASES
116442  |  RAB39B  |  DISEASES
22986  |  SORCS3  |  DISEASES
9118  |  INA  |  DISEASES
22854  |  NTNG1  |  DISEASES
25911  |  DPCD  |  DISEASES
2332  |  FMR1  |  DISEASES
27316  |  RBMX  |  DISEASES
9295  |  SRSF11  |  DISEASES
3725  |  JUN  |  DISEASES
23203  |  PMPCA  |  DISEASES
6780  |  STAU1  |  DISEASES
3188  |  HNRNPH2  |  DISEASES
54209  |  TREM2  |  DISEASES
8565  |  YARS  |  DISEASES
6428  |  SRSF3  |  DISEASES
6429  |  SRSF4  |  DISEASES
23673  |  STX12  |  DISEASES
5252  |  PHF1  |  DISEASES
65018  |  PINK1  |  DISEASES
23509  |  POFUT1  |  DISEASES
259215  |  LY6G6F  |  DISEASES
79180  |  EFHD2  |  DISEASES
23287  |  AGTPBP1  |  DISEASES
3190  |  HNRNPK  |  DISEASES
29979  |  UBQLN1  |  DISEASES
1471  |  CST3  |  DISEASES
51629  |  SLC25A39  |  DISEASES
94027  |  CGB7  |  DISEASES
2512  |  FTL  |  DISEASES
6311  |  ATXN2  |  DISEASES
1804  |  DPP6  |  DISEASES
9856  |  KIAA0319  |  DISEASES
51473  |  DCDC2  |  DISEASES
9445  |  ITM2B  |  DISEASES
1114  |  CHGB  |  DISEASES
4897  |  NRCAM  |  DISEASES
347240  |  KIF24  |  DISEASES
375790  |  AGRN  |  DISEASES
5621  |  PRNP  |  DISEASES
4712  |  NDUFB6  |  DISEASES
84991  |  RBM17  |  DISEASES
203228  |  C9orf72  |  DISEASES
80173  |  IFT74  |  DISEASES
6606  |  SMN1  |  DISEASES
6607  |  SMN2  |  DISEASES
105  |  ADARB2  |  DISEASES
56341  |  PRMT8  |  DISEASES
4336  |  MOBP  |  DISEASES
285220  |  EPHA6  |  DISEASES
8878  |  SQSTM1  |  DISEASES
64693  |  CTAGE1  |  DISEASES
10477  |  UBE2E3  |  DISEASES
220988  |  HNRNPA3  |  DISEASES
143187  |  VTI1A  |  DISEASES
57628  |  DPP10  |  DISEASES
84628  |  NTNG2  |  DISEASES
4287  |  ATXN3  |  DISEASES
2596  |  GAP43  |  DISEASES
1267  |  CNP  |  DISEASES
4828  |  NMB  |  DISEASES
5660  |  PSAP  |  DISEASES
3122  |  HLA-DRA  |  DISEASES
93487  |  MAPK1IP1L  |  DISEASES
2643  |  GCH1  |  DISEASES
2737  |  GLI3  |  DISEASES
10020  |  GNE  |  DISEASES
54664  |  TMEM106B  |  DISEASES
388324  |  INCA1  |  DISEASES
899  |  CCNF  |  DISEASES
55234  |  SMU1  |  DISEASES
5119  |  CHMP1A  |  DISEASES
815  |  CAMK2A  |  DISEASES
389136  |  VGLL3  |  DISEASES
54039  |  PCBP3  |  DISEASES
140775  |  SMCR8  |  DISEASES
10636  |  RGS14  |  DISEASES
3267  |  AGFG1  |  DISEASES
5861  |  RAB1A  |  DISEASES
147111  |  NOTUM  |  DISEASES
7311  |  UBA52  |  DISEASES
11277  |  TREX1  |  DISEASES
146713  |  RBFOX3  |  DISEASES
2130  |  EWSR1  |  DISEASES
7072  |  TIA1  |  DISEASES
94115  |  CGB8  |  DISEASES
6829  |  SUPT5H  |  DISEASES
30000  |  TNPO2  |  DISEASES
64854  |  USP46  |  DISEASES
10900  |  RUNDC3A  |  DISEASES
627  |  BDNF  |  DISEASES
6434  |  TRA2B  |  DISEASES
9217  |  VAPB  |  DISEASES
22862  |  FNDC3A  |  DISEASES
400916  |  CHCHD10  |  DISEASES
1020  |  CDK5  |  DISEASES
846  |  CASR  |  DISEASES
8530  |  CST7  |  DISEASES
10189  |  ALYREF  |  DISEASES
96459  |  FNIP1  |  DISEASES
57537  |  SORCS2  |  DISEASES
54212  |  SNTG1  |  DISEASES
23025  |  UNC13A  |  DISEASES
51271  |  UBAP1  |  DISEASES
246744  |  STH  |  DISEASES
8792  |  TNFRSF11A  |  DISEASES
8148  |  TAF15  |  DISEASES
5886  |  RAD23A  |  DISEASES
100126270  |  FMR1-AS1  |  DISEASES
100750326  |  HTT-AS  |  DISEASES
4568  |  MT-TL2  |  DISEASES
4578  |  MT-TW  |  DISEASES
283131  |  NEAT1  |  DISEASES
100861563  |  SCAANT1  |  DISEASES
101410542  |  UCHL1-AS1  |  DISEASES
Locus(Waiting for update.)
Disease ID 1042
Disease basal ganglia disease
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:2)
Disease ID 1042
Disease basal ganglia disease
Manually Symptom(Waiting for update.)
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:1)
C0426980  |  motor symptoms  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:0)
(Waiting for update.)
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Chemical(Total Drugs:45)
CUI ChemicalName ChemicalID CasRN DiseaseName DiseaseID DirectEvidence PubMedIDs
C0004782amitriptylineD00063950-48-6basal ganglia diseasesMESH:D001480marker/mechanism11075569
C0004782amlodipineD01731188150-42-9basal ganglia diseasesMESH:D001480marker/mechanism11075569
C0004782amoxapineD00065714028-44-5basal ganglia diseasesMESH:D001480marker/mechanism2864332
C0004782buspironeD00206536505-84-7basal ganglia diseasesMESH:D001480marker/mechanism17351421
C0004782caffeineD0021101958/8/2basal ganglia diseasesMESH:D001480therapeutic18594798
C0004782carbamazepineD002220298-46-4basal ganglia diseasesMESH:D001480marker/mechanism20375657
C0004782chloroquineD0027381954/5/7basal ganglia diseasesMESH:D001480marker/mechanism457222
C0004782chlorpromazineD00274650-53-3basal ganglia diseasesMESH:D001480marker/mechanism11549212
C0004782chlorpromazineD00274650-53-3basal ganglia diseasesMESH:D001480therapeutic5781950
C0004782cimetidineD00292751481-61-9basal ganglia diseasesMESH:D001480marker/mechanism7134098
C0004782cinnarizineD002936298-57-7basal ganglia diseasesMESH:D001480marker/mechanism10390751
C0004782clozapineD0030245786-21-0basal ganglia diseasesMESH:D001480marker/mechanism10852089
C0004782droperidolD004329548-73-2basal ganglia diseasesMESH:D001480marker/mechanism10411778
C0004782fluoxetineD00547354910-89-3basal ganglia diseasesMESH:D001480marker/mechanism11448089
C0004782fluvoxamineD01666654739-18-3basal ganglia diseasesMESH:D001480marker/mechanism1583525
C0004782haloperidolD00622052-86-8basal ganglia diseasesMESH:D001480marker/mechanism10468313
C0004782haloperidolD00622052-86-8basal ganglia diseasesMESH:D001480therapeutic9179395
C0004782ifosfamideD0070693778-73-2basal ganglia diseasesMESH:D001480marker/mechanism2049756
C0004782imipramineD00709950-49-7basal ganglia diseasesMESH:D001480marker/mechanism1786266
C0004782imipramineD00709950-49-7basal ganglia diseasesMESH:D001480therapeutic4671924
C0004782indinavirD019469150378-17-9basal ganglia diseasesMESH:D001480marker/mechanism11978161
C0004782ketorolacD02091066635-83-4basal ganglia diseasesMESH:D001480marker/mechanism11869410
C0004782lamotrigineC04778184057-84-1basal ganglia diseasesMESH:D001480marker/mechanism19681008
C0004782lansoprazoleD064747-basal ganglia diseasesMESH:D001480marker/mechanism15037850
C0004782loxapineD0081521977/10/2basal ganglia diseasesMESH:D001480marker/mechanism7028656
C0004782methylphenidateD008774113-45-1basal ganglia diseasesMESH:D001480marker/mechanism11869410
C0004782morphineD00902057-27-2basal ganglia diseasesMESH:D001480marker/mechanism10411778
C0004782nizatidineD01656776963-41-2basal ganglia diseasesMESH:D001480marker/mechanism15303455
C0004782nortriptylineD00966172-69-5basal ganglia diseasesMESH:D001480marker/mechanism10435776
C0004782olanzapineC076029132539-06-1basal ganglia diseasesMESH:D001480marker/mechanism10436199
C0004782phenytoinD01067257-41-0basal ganglia diseasesMESH:D001480marker/mechanism12940655
C0004782phenytoinD01067257-41-0basal ganglia diseasesMESH:D001480therapeutic4075309
C0004782pilocarpineD01086292-13-7basal ganglia diseasesMESH:D001480marker/mechanism1756784
C0004782prochlorperazineD01134658-38-8basal ganglia diseasesMESH:D001480marker/mechanism10881788
C0004782procyclidineD01135277-37-2basal ganglia diseasesMESH:D001480therapeutic6016862
C0004782propranololD011433525-66-6basal ganglia diseasesMESH:D001480therapeutic12900300
C0004782pyridoxineD011736-basal ganglia diseasesMESH:D001480marker/mechanism872535
C0004782ritonavirD019438-basal ganglia diseasesMESH:D001480marker/mechanism11978161
C0004782sulpirideD01346915676-16-1basal ganglia diseasesMESH:D001480marker/mechanism622221
C0004782thiethylperazineD0138471420-55-9basal ganglia diseasesMESH:D001480marker/mechanism16101941
C0004782triflupromazineD014273146-54-3basal ganglia diseasesMESH:D001480marker/mechanism936714
C0004782trihexyphenidylD014282144-11-6basal ganglia diseasesMESH:D001480therapeutic11532387
C0004782valproic acidD01463599-66-1basal ganglia diseasesMESH:D001480marker/mechanism10435776
C0004782vigabatrinD02088860643-86-9basal ganglia diseasesMESH:D001480marker/mechanism18783433
C0004782ziprasidoneC092292146939-27-7basal ganglia diseasesMESH:D001480marker/mechanism15465997
FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)
FDA labeling changes(Total Drugs:0)
(Waiting for update.)