PedAM

Pediatric Disease Annotations & Medicines


	cerebellar disease

Disease ID	1562
Disease	cerebellar disease
Definition	Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, GAIT ATAXIA, and MUSCLE HYPOTONIA.
Synonym	cerebellar deficiency syndrome cerebellar deficiency syndrome (disorder) cerebellar deficiency syndrome, nos cerebellar dis cerebellar disease (disorder) cerebellar diseases cerebellar diseases [disease/finding] cerebellar disorder cerebellar disorder (disorder) cerebellar disorder [ambiguous] cerebellar disorders cerebellar dysfunction cerebellar dysfunctions cerebellar syndrome cerebellar syndrome, nos cerebellar syndromes cerebellum dis cerebellum disease cerebellum diseases cerebellum--diseases disease, cerebellar disease, cerebellum disorder, cerebellar dysfunction, cerebellar syndrome cerebellar syndrome, cerebellar
DOID	DOID:2786
UMLS	C0007760
MeSH	D002526
SNOMED-CT	SNOMEDCT_US_2016_09_01:224186005;SNOMEDCT_US_2016_09_01:223176004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0679466 \| cognitive deficits \| 1 C0851578 \| sleep disorders \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:9) FOXC1 \| 2296 \| GHR TINF2 \| 26277 \| CTD_human ZIC4 \| 84107 \| GHR ZIC1 \| 7545 \| GHR CASK \| 8573 \| CTD_human PTF1A \| 256297 \| CTD_human NOS1 \| 4842 \| CTD_human RPGRIP1L \| 23322 \| CTD_human AHI1 \| 54806 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:385) 6315 \| ATXN8OS \| DISEASES 84908 \| FAM136A \| DISEASES 79931 \| TNIP3 \| DISEASES 3631 \| INPP4A \| DISEASES 343641 \| TGM6 \| DISEASES 51324 \| SPG21 \| DISEASES 350 \| APOH \| DISEASES 22880 \| MORC2 \| DISEASES 410 \| ARSA \| DISEASES 5816 \| PVALB \| DISEASES 5173 \| PDYN \| DISEASES 215 \| ABCD1 \| DISEASES 869 \| CBLN1 \| DISEASES 79152 \| FA2H \| DISEASES 10273 \| STUB1 \| DISEASES 9333 \| TGM5 \| DISEASES 54332 \| GDAP1 \| DISEASES 57030 \| SLC17A7 \| DISEASES 6511 \| SLC1A6 \| DISEASES 973 \| CD79A \| DISEASES 23064 \| SETX \| DISEASES 7431 \| VIM \| DISEASES 5193 \| PEX12 \| DISEASES 4126 \| MANBA \| DISEASES 55703 \| POLR3B \| DISEASES 4598 \| MVK \| DISEASES 84519 \| ACRBP \| DISEASES 2026 \| ENO2 \| DISEASES 8683 \| SRSF9 \| DISEASES 6908 \| TBP \| DISEASES 55770 \| EXOC2 \| DISEASES 54974 \| THG1L \| DISEASES 9927 \| MFN2 \| DISEASES 7276 \| TTR \| DISEASES 9419 \| CRIPT \| DISEASES 51569 \| UFM1 \| DISEASES 57616 \| TSHZ3 \| DISEASES 10342 \| TFG \| DISEASES 9409 \| PEX16 \| DISEASES 2700 \| GJA3 \| DISEASES 1959 \| EGR2 \| DISEASES 6310 \| ATXN1 \| DISEASES 55154 \| MSTO1 \| DISEASES 8139 \| GAN \| DISEASES 482 \| ATP1B2 \| DISEASES 23503 \| ZFYVE26 \| DISEASES 259232 \| NALCN \| DISEASES 1890 \| TYMP \| DISEASES 25814 \| ATXN10 \| DISEASES 8666 \| EIF3G \| DISEASES 91574 \| C12orf65 \| DISEASES 2670 \| GFAP \| DISEASES 22 \| ABCB7 \| DISEASES 60412 \| EXOC4 \| DISEASES 81846 \| SBF2 \| DISEASES 1022 \| CDK7 \| DISEASES 53 \| ACP2 \| DISEASES 1593 \| CYP27A1 \| DISEASES 6426 \| SRSF1 \| DISEASES 2572 \| GAD2 \| DISEASES 7274 \| TTPA \| DISEASES 9585 \| KIF20B \| DISEASES 2581 \| GALC \| DISEASES 3074 \| HEXB \| DISEASES 51444 \| RNF138 \| DISEASES 9097 \| USP14 \| DISEASES 54902 \| TTC19 \| DISEASES 8120 \| AP3B2 \| DISEASES 2196 \| FAT2 \| DISEASES 80208 \| SPG11 \| DISEASES 27130 \| INVS \| DISEASES 57017 \| COQ9 \| DISEASES 23361 \| ZNF629 \| DISEASES 10558 \| SPTLC1 \| DISEASES 7515 \| XRCC1 \| DISEASES 5264 \| PHYH \| DISEASES 6855 \| SYP \| DISEASES 4858 \| NOVA2 \| DISEASES 3978 \| LIG1 \| DISEASES 5582 \| PRKCG \| DISEASES 492 \| ATP2B3 \| DISEASES 56751 \| BARHL1 \| DISEASES 6801 \| STRN \| DISEASES 84708 \| LNX1 \| DISEASES 23095 \| KIF1B \| DISEASES 79644 \| SRD5A3 \| DISEASES 2891 \| GRIA2 \| DISEASES 1356 \| CP \| DISEASES 5443 \| POMC \| DISEASES 7879 \| RAB7A \| DISEASES 6507 \| SLC1A3 \| DISEASES 1950 \| EGF \| DISEASES 64374 \| SIL1 \| DISEASES 8395 \| PIP5K1B \| DISEASES 793 \| CALB1 \| DISEASES 54806 \| AHI1 \| DISEASES 4885 \| NPTX2 \| DISEASES 5218 \| CDK14 \| DISEASES 29999 \| FSCN3 \| DISEASES 3746 \| KCNC1 \| DISEASES 8892 \| EIF2B2 \| DISEASES 85416 \| ZIC5 \| DISEASES 79944 \| L2HGDH \| DISEASES 146057 \| TTBK2 \| DISEASES 3073 \| HEXA \| DISEASES 5428 \| POLG \| DISEASES 5373 \| PMM2 \| DISEASES 8996 \| NOL3 \| DISEASES 6687 \| SPG7 \| DISEASES 10351 \| ABCA8 \| DISEASES 10939 \| AFG3L2 \| DISEASES 4864 \| NPC1 \| DISEASES 6531 \| SLC6A3 \| DISEASES 402665 \| IGLON5 \| DISEASES 805 \| CALM2 \| DISEASES 285362 \| SUMF1 \| DISEASES 6769 \| STAC \| DISEASES 2495 \| FTH1 \| DISEASES 8893 \| EIF2B5 \| DISEASES 23092 \| ARHGAP26 \| DISEASES 4851 \| NOTCH1 \| DISEASES 472 \| ATM \| DISEASES 823 \| CAPN1 \| DISEASES 5860 \| QDPR \| DISEASES 2895 \| GRID2 \| DISEASES 2911 \| GRM1 \| DISEASES 7545 \| ZIC1 \| DISEASES 8467 \| SMARCA5 \| DISEASES 26060 \| APPL1 \| DISEASES 56896 \| DPYSL5 \| DISEASES 5192 \| PEX10 \| DISEASES 808 \| CALM3 \| DISEASES 1476 \| CSTB \| DISEASES 55129 \| ANO10 \| DISEASES 162417 \| NAGS \| DISEASES 10825 \| NEU3 \| DISEASES 120114 \| FAT3 \| DISEASES 79789 \| CLMN \| DISEASES 5092 \| PCBD1 \| DISEASES 9150 \| CTDP1 \| DISEASES 9640 \| ZNF592 \| DISEASES 10369 \| CACNG2 \| DISEASES 79058 \| ASPSCR1 \| DISEASES 2637 \| GBX2 \| DISEASES 478 \| ATP1A3 \| DISEASES 3479 \| IGF1 \| DISEASES 7200 \| TRH \| DISEASES 5190 \| PEX6 \| DISEASES 5354 \| PLP1 \| DISEASES 340024 \| SLC6A19 \| DISEASES 23636 \| NUP62 \| DISEASES 10963 \| STIP1 \| DISEASES 3708 \| ITPR1 \| DISEASES 23261 \| CAMTA1 \| DISEASES 11337 \| GABARAP \| DISEASES 23627 \| PRND \| DISEASES 1938 \| EEF2 \| DISEASES 2348 \| FOLR1 \| DISEASES 1808 \| DPYSL2 \| DISEASES 23209 \| MLC1 \| DISEASES 9420 \| CYP7B1 \| DISEASES 27235 \| COQ2 \| DISEASES 6712 \| SPTBN2 \| DISEASES 26470 \| SEZ6L2 \| DISEASES 57231 \| SNX14 \| DISEASES 4867 \| NPHP1 \| DISEASES 80025 \| PANK2 \| DISEASES 80818 \| ZNF436 \| DISEASES 767 \| CA8 \| DISEASES 6440 \| SFTPC \| DISEASES 3350 \| HTR1A \| DISEASES 7173 \| TPO \| DISEASES 170825 \| GSX2 \| DISEASES 3752 \| KCND3 \| DISEASES 2828 \| GPR4 \| DISEASES 10397 \| NDRG1 \| DISEASES 10749 \| KIF1C \| DISEASES 6683 \| SPAST \| DISEASES 79155 \| TNIP2 \| DISEASES 2253 \| FGF8 \| DISEASES 4723 \| NDUFV1 \| DISEASES 11284 \| PNKP \| DISEASES 5032 \| P2RY11 \| DISEASES 491 \| ATP2B2 \| DISEASES 148266 \| ZNF569 \| DISEASES 57716 \| PRX \| DISEASES 219285 \| SAMD9L \| DISEASES 5663 \| PSEN1 \| DISEASES 55280 \| CWF19L1 \| DISEASES 23400 \| ATP13A2 \| DISEASES 283989 \| TSEN54 \| DISEASES 6656 \| SOX1 \| DISEASES 8398 \| PLA2G6 \| DISEASES 23265 \| EXOC7 \| DISEASES 2009 \| EML1 \| DISEASES 5787 \| PTPRB \| DISEASES 5521 \| PPP2R2B \| DISEASES 3984 \| LIMK1 \| DISEASES 6400 \| SEL1L \| DISEASES 55775 \| TDP1 \| DISEASES 6622 \| SNCA \| DISEASES 23583 \| SMUG1 \| DISEASES 90627 \| STARD13 \| DISEASES 221927 \| BRAT1 \| DISEASES 4697 \| NDUFA4 \| DISEASES 10570 \| DPYSL4 \| DISEASES 6575 \| SLC20A2 \| DISEASES 4137 \| MAPT \| DISEASES 2583 \| B4GALNT1 \| DISEASES 10166 \| SLC25A15 \| DISEASES 23114 \| NFASC \| DISEASES 92737 \| DNER \| DISEASES 4734 \| NEDD4 \| DISEASES 1861 \| TOR1A \| DISEASES 8898 \| MTMR2 \| DISEASES 6157 \| RPL27A \| DISEASES 6334 \| SCN8A \| DISEASES 26289 \| AK5 \| DISEASES 23154 \| NCDN \| DISEASES 51710 \| ZNF44 \| DISEASES 130013 \| ACMSD \| DISEASES 79876 \| UBA5 \| DISEASES 273 \| AMPH \| DISEASES 1822 \| ATN1 \| DISEASES 801 \| CALM1 \| DISEASES 5828 \| PEX2 \| DISEASES 23224 \| SYNE2 \| DISEASES 2571 \| GAD1 \| DISEASES 112476 \| PRRT2 \| DISEASES 8913 \| CACNA1G \| DISEASES 5294 \| PIK3CG \| DISEASES 617 \| BCS1L \| DISEASES 1786 \| DNMT1 \| DISEASES 79947 \| DHDDS \| DISEASES 773 \| CACNA1A \| DISEASES 83666 \| PARP9 \| DISEASES 8891 \| EIF2B3 \| DISEASES 25894 \| PLEKHG4 \| DISEASES 2107 \| ETF1 \| DISEASES 11076 \| TPPP \| DISEASES 477 \| ATP1A2 \| DISEASES 4519 \| MT-CYB \| DISEASES 4508 \| MT-ATP6 \| DISEASES 4541 \| MT-ND6 \| DISEASES 26047 \| CNTNAP2 \| DISEASES 4540 \| MT-ND5 \| DISEASES 2705 \| GJB1 \| DISEASES 4538 \| MT-ND4 \| DISEASES 55157 \| DARS2 \| DISEASES 4509 \| MT-ATP8 \| DISEASES 57165 \| GJC2 \| DISEASES 23345 \| SYNE1 \| DISEASES 9928 \| KIF14 \| DISEASES 9213 \| XPR1 \| DISEASES 117157 \| SH2D1B \| DISEASES 3766 \| KCNJ10 \| DISEASES 253738 \| EBF3 \| DISEASES 57107 \| PDSS2 \| DISEASES 27246 \| RNF115 \| DISEASES 1268 \| CNR1 \| DISEASES 2556 \| GABRA3 \| DISEASES 84548 \| TMEM185A \| DISEASES 2334 \| AFF2 \| DISEASES 2332 \| FMR1 \| DISEASES 959 \| CD40LG \| DISEASES 6594 \| SMARCA1 \| DISEASES 4774 \| NFIA \| DISEASES 9211 \| LGI1 \| DISEASES 23203 \| PMPCA \| DISEASES 5728 \| PTEN \| DISEASES 6834 \| SURF1 \| DISEASES 114034 \| TOE1 \| DISEASES 11128 \| POLR3A \| DISEASES 84181 \| CHD6 \| DISEASES 286205 \| SCAI \| DISEASES 22839 \| DLGAP4 \| DISEASES 58476 \| TP53INP2 \| DISEASES 7507 \| XPA \| DISEASES 114769 \| CARD16 \| DISEASES 23287 \| AGTPBP1 \| DISEASES 2259 \| FGF14 \| DISEASES 23590 \| PDSS1 \| DISEASES 26090 \| ABHD12 \| DISEASES 6096 \| RORB \| DISEASES 2395 \| FXN \| DISEASES 2512 \| FTL \| DISEASES 8241 \| RBM10 \| DISEASES 6311 \| ATXN2 \| DISEASES 1804 \| DPP6 \| DISEASES 57704 \| GBA2 \| DISEASES 9445 \| ITM2B \| DISEASES 339453 \| TMEM240 \| DISEASES 5080 \| PAX6 \| DISEASES 55366 \| LGR4 \| DISEASES 90624 \| LYRM7 \| DISEASES 5621 \| PRNP \| DISEASES 51360 \| MBTPS2 \| DISEASES 7222 \| TRPC3 \| DISEASES 54840 \| APTX \| DISEASES 203228 \| C9orf72 \| DISEASES 57393 \| TMEM27 \| DISEASES 284390 \| ZNF763 \| DISEASES 8777 \| MPDZ \| DISEASES 10528 \| NOP56 \| DISEASES 51761 \| ATP8A2 \| DISEASES 7436 \| VLDLR \| DISEASES 26278 \| SACS \| DISEASES 3736 \| KCNA1 \| DISEASES 131118 \| DNAJC19 \| DISEASES 4155 \| MBP \| DISEASES 51244 \| CCDC174 \| DISEASES 284217 \| LAMA1 \| DISEASES 1130 \| LYST \| DISEASES 440193 \| CCDC88C \| DISEASES 54476 \| RNF216 \| DISEASES 9454 \| HOMER3 \| DISEASES 4291 \| MLF1 \| DISEASES 78996 \| C7orf49 \| DISEASES 4287 \| ATXN3 \| DISEASES 5803 \| PTPRZ1 \| DISEASES 200894 \| ARL13B \| DISEASES 2319 \| FLOT2 \| DISEASES 4299 \| AFF1 \| DISEASES 174 \| AFP \| DISEASES 115560 \| ZNF501 \| DISEASES 23259 \| DDHD2 \| DISEASES 79600 \| TCTN1 \| DISEASES 64221 \| ROBO3 \| DISEASES 8570 \| KHSRP \| DISEASES 6314 \| ATXN7 \| DISEASES 23353 \| SUN1 \| DISEASES 51128 \| SAR1B \| DISEASES 25777 \| SUN2 \| DISEASES 9678 \| PHF14 \| DISEASES 7018 \| TF \| DISEASES 124997 \| WDR81 \| DISEASES 151 \| ADRA2B \| DISEASES 9842 \| PLEKHM1 \| DISEASES 10640 \| EXOC5 \| DISEASES 91147 \| TMEM67 \| DISEASES 85300 \| ATCAY \| DISEASES 5649 \| RELN \| DISEASES 146713 \| RBFOX3 \| DISEASES 8890 \| EIF2B4 \| DISEASES 10715 \| CERS1 \| DISEASES 84668 \| FAM126A \| DISEASES 8315 \| BRAP \| DISEASES 9742 \| IFT140 \| DISEASES 116228 \| COX20 \| DISEASES 10908 \| PNPLA6 \| DISEASES 441531 \| PGAM4 \| DISEASES 627 \| BDNF \| DISEASES 7084 \| TK2 \| DISEASES 10046 \| MAMLD1 \| DISEASES 54872 \| PIGG \| DISEASES 1967 \| EIF2B1 \| DISEASES 200403 \| VWA3B \| DISEASES 9254 \| CACNA2D2 \| DISEASES 400916 \| CHCHD10 \| DISEASES 135935 \| NOBOX \| DISEASES 3295 \| HSD17B4 \| DISEASES 51428 \| DDX41 \| DISEASES 79628 \| SH3TC2 \| DISEASES 51079 \| NDUFA13 \| DISEASES 2110 \| ETFDH \| DISEASES 10687 \| PNMA2 \| DISEASES 552889 \| ATXN7L3B \| DISEASES 4359 \| MPZ \| DISEASES 3748 \| KCNC3 \| DISEASES 9152 \| SLC6A5 \| DISEASES 55331 \| ACER3 \| DISEASES 84107 \| ZIC4 \| DISEASES 65055 \| REEP1 \| DISEASES 4857 \| NOVA1 \| DISEASES 785 \| CACNB4 \| DISEASES 11232 \| POLG2 \| DISEASES 80184 \| CEP290 \| DISEASES 3747 \| KCNC2 \| DISEASES 23601 \| CLEC5A \| DISEASES 10577 \| NPC2 \| DISEASES 9990 \| SLC12A6 \| DISEASES 820 \| CAMP \| DISEASES 51479 \| ANKFY1 \| DISEASES 4566 \| MT-TK \| DISEASES 103164619 \| PCAT2 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1562
Disease	cerebellar disease
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:3) HP:0000478 \| Abnormal eye \| 1 HP:0002317 \| Unsteady walk \| 1 HP:0100543 \| Cognitive deficits \| 1

Disease ID	1562
Disease	cerebellar disease
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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:17)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0007760	amitriptyline	D000639	50-48-6	cerebellar diseases	MESH:D002526	marker/mechanism	6842224
C0007760	carbamazepine	D002220	298-46-4	cerebellar diseases	MESH:D002526	marker/mechanism	7831181
C0007760	chlorpromazine	D002746	50-53-3	cerebellar diseases	MESH:D002526	marker/mechanism	3054982
C0007760	cimetidine	D002927	51481-61-9	cerebellar diseases	MESH:D002526	marker/mechanism	7134098
C0007760	digoxin	D004077	20830-75-5	cerebellar diseases	MESH:D002526	marker/mechanism	5440585
C0007760	fluorouracil	D005472	51-21-8	cerebellar diseases	MESH:D002526	marker/mechanism	10669184
C0007760	gadodiamide	C064925	-	cerebellar diseases	MESH:D002526	marker/mechanism	9763378
C0007760	haloperidol	D006220	52-86-8	cerebellar diseases	MESH:D002526	marker/mechanism	3054982
C0007760	ifosfamide	D007069	3778-73-2	cerebellar diseases	MESH:D002526	marker/mechanism	3090210
C0007760	mesna	D015080	19767-45-4	cerebellar diseases	MESH:D002526	marker/mechanism	3090210
C0007760	methotrexate	D008727	1959/5/2	cerebellar diseases	MESH:D002526	marker/mechanism	12707728
C0007760	oxycodone	D010098	76-42-6	cerebellar diseases	MESH:D002526	marker/mechanism	20440598
C0007760	phenytoin	D010672	57-41-0	cerebellar diseases	MESH:D002526	marker/mechanism	11433844
C0007760	tretinoin	D014212	302-79-4	cerebellar diseases	MESH:D002526	marker/mechanism	18495421
C0007760	valproic acid	D014635	99-66-1	cerebellar diseases	MESH:D002526	marker/mechanism	10840175
C0007760	vincristine	D014750	-	cerebellar diseases	MESH:D002526	marker/mechanism	12401321
C0007760	vitamin e	D014810	1406-18-4	cerebellar diseases	MESH:D002526	marker/mechanism	9760855

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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