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encyclopedia of Rare Disease Annotation for Precision Medicine

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	apraxia

Disease ID	561
Disease	apraxia
Definition	loss of ability to perform familiar, purposeful movements in the absence of paralysis or other neural sensorimotor impairment.
Synonym	[d]apraxia [d]apraxia (context-dependent category) [d]apraxia (situation) apraxia (disorder) apraxia (finding) apraxia [ambiguous] apraxia, nos apraxias apraxias [disease/finding] dyspraxia dyspraxia (finding) dyspraxia syndrome dyspraxias
DOID	DOID:0060135 DOID:4090
ICD10	ICD10CM:R48.2
UMLS	C0003635
MeSH	D001072
SNOMED-CT	SNOMEDCT_US_2016_09_01:68345001;SNOMEDCT_US_2016_09_01:6950007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:25) C0004134 \| ataxia \| 61 C0003537 \| aphasia \| 6 C0030567 \| parkinson's disease \| 5 C0005747 \| blepharospasm \| 4 C0002395 \| alzheimer's disease \| 3 C0004352 \| autism \| 2 C0026769 \| multiple sclerosis \| 2 C0002736 \| amyotrophic lateral sclerosis \| 2 C0007758 \| cerebellar ataxia \| 2 C0016719 \| friedreich's ataxia \| 2 C0497327 \| dementia \| 2 C0030567 \| parkinson disease \| 2 C0039446 \| telangiectasia \| 2 C0017205 \| gaucher disease \| 1 C0687120 \| nephronophthisis \| 1 C0524851 \| neurodegenerative diseases \| 1 C0524851 \| neurodegenerative disease \| 1 C0027765 \| neurological disorder \| 1 C0085084 \| motor neuron disease \| 1 C0743039 \| progressive dementia \| 1 C0002395 \| alzheimer disease \| 1 C0009207 \| cockayne syndrome \| 1 C0013421 \| dystonia \| 1 C0007785 \| cerebral infarct \| 1 C0338451 \| frontotemporal dementia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 93986 \| FOXP2 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 27086 \| FOXP1 \| CIPHER 93986 \| FOXP2 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:80) 174 \| AFP \| 2.105 \| DISEASES 54840 \| APTX \| 6.398 \| DISEASES 84239 \| ATP13A4 \| 3.006 \| DISEASES 477 \| ATP1A2 \| 1.255 \| DISEASES 148789 \| B3GALNT2 \| 2.942 \| DISEASES 53335 \| BCL11A \| 2.27 \| DISEASES 65250 \| C5orf42 \| 1.997 \| DISEASES 203228 \| C9orf72 \| 2.893 \| DISEASES 23066 \| CAND2 \| 1.716 \| DISEASES 875 \| CBS \| 5.624 \| DISEASES 6792 \| CDKL5 \| 2.198 \| DISEASES 1103 \| CHAT \| 1.913 \| DISEASES 1121 \| CHM \| 1.246 \| DISEASES 26047 \| CNTNAP2 \| 2.529 \| DISEASES 1382 \| CRABP2 \| 1.432 \| DISEASES 1486 \| CTBS \| 1.975 \| DISEASES 9191 \| DEDD \| 2.574 \| DISEASES 1804 \| DPP6 \| 1.783 \| DISEASES 161582 \| DYX1C1 \| 2.095 \| DISEASES 255324 \| EPGN \| 2.923 \| DISEASES 23085 \| ERC1 \| 2.416 \| DISEASES 104355217 \| ERICD \| 1.057 \| DISEASES 79147 \| FKRP \| 1.318 \| DISEASES 93986 \| FOXP2 \| 4.549 \| DISEASES 2592 \| GALT \| 3.383 \| DISEASES 2737 \| GLI3 \| 2.499 \| DISEASES 3006 \| HIST1H1C \| 1.961 \| DISEASES 8518 \| IKBKAP \| 1.519 \| DISEASES 9118 \| INA \| 1.874 \| DISEASES 729920 \| ISPD \| 1.947 \| DISEASES 102723508 \| KANTR \| 2.347 \| DISEASES 9856 \| KIAA0319 \| 3.04 \| DISEASES 284217 \| LAMA1 \| 2.096 \| DISEASES 3980 \| LIG3 \| 1.866 \| DISEASES 4137 \| MAPT \| 4.016 \| DISEASES 4155 \| MBP \| 1.592 \| DISEASES 4204 \| MECP2 \| 3.728 \| DISEASES 79104 \| MEG8 \| 1.115 \| DISEASES 54903 \| MKS1 \| 2.282 \| DISEASES 4336 \| MOBP \| 2.294 \| DISEASES 57380 \| MRS2 \| 1.674 \| DISEASES 4651 \| MYO10 \| 2.828 \| DISEASES 23413 \| NCS1 \| 1.806 \| DISEASES 27031 \| NPHP3 \| 2.013 \| DISEASES 261734 \| NPHP4 \| 2.705 \| DISEASES 103164619 \| PCAT2 \| 1.987 \| DISEASES 10846 \| PDE10A \| 1.464 \| DISEASES 11284 \| PNKP \| 4.47 \| DISEASES 10687 \| PNMA2 \| 1.99 \| DISEASES 5424 \| POLD1 \| 1.748 \| DISEASES 55624 \| POMGNT1 \| 1.553 \| DISEASES 10585 \| POMT1 \| 1.637 \| DISEASES 5621 \| PRNP \| 1.932 \| DISEASES 112476 \| PRRT2 \| 1.183 \| DISEASES 5663 \| PSEN1 \| 4.22 \| DISEASES 5664 \| PSEN2 \| 1.991 \| DISEASES 55684 \| RABL6 \| 3.176 \| DISEASES 343035 \| RD3 \| 1.794 \| DISEASES 6091 \| ROBO1 \| 1.379 \| DISEASES 57142 \| RTN4 \| 1.43 \| DISEASES 26278 \| SACS \| 1.304 \| DISEASES 6334 \| SCN8A \| 1.346 \| DISEASES 25970 \| SH2B1 \| 1.637 \| DISEASES 6575 \| SLC20A2 \| 1.614 \| DISEASES 788 \| SLC25A20 \| 1.636 \| DISEASES 140775 \| SMCR8 \| 2.775 \| DISEASES 23583 \| SMUG1 \| 3.091 \| DISEASES 6622 \| SNCA \| 1.408 \| DISEASES 30014 \| SPANXA1 \| 2.553 \| DISEASES 6710 \| SPTB \| 1.586 \| DISEASES 27286 \| SRPX2 \| 1.339 \| DISEASES 6938 \| TCF12 \| 1.729 \| DISEASES 55775 \| TDP1 \| 1.859 \| DISEASES 54664 \| TMEM106B \| 1.841 \| DISEASES 1861 \| TOR1A \| 1.079 \| DISEASES 54209 \| TREM2 \| 1.107 \| DISEASES 11277 \| TREX1 \| 2.239 \| DISEASES 7415 \| VCP \| 1.554 \| DISEASES 8565 \| YARS \| 1.364 \| DISEASES 9278 \| ZBTB22 \| 1.339 \| DISEASES
Locus	(Waiting for update.)

Disease ID	561
Disease	apraxia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:33) HP:0001251 \| Ataxia \| 64 HP:0001297 \| Cerebral vascular events \| 10 HP:0002381 \| Aphasia \| 7 HP:0000643 \| Spontaneous closure of eyelid \| 4 HP:0000726 \| Dementia \| 3 HP:0001263 \| Developmental retardation \| 3 HP:0002419 \| 'molar tooth sign' on brain imaging' \| 2 HP:0000717 \| Autism \| 2 HP:0001249 \| Mental retardation \| 2 HP:0002073 \| Cerebellar ataxia, progressive \| 2 HP:0007354 \| Amyotrophic lateral sclerosis \| 2 HP:0001336 \| Myoclonic jerks \| 2 HP:0001009 \| Telangiectases \| 2 HP:0002317 \| Unsteady walk \| 1 HP:0002511 \| Late-onset form of familial Alzheimer disease \| 1 HP:0002063 \| Muscle rigidity \| 1 HP:0001332 \| Dystonia \| 1 HP:0002451 \| Limb dystonia \| 1 HP:0000556 \| Retinal dystrophy \| 1 HP:0001289 \| Confusion \| 1 HP:0100033 \| Tic disorder \| 1 HP:0007256 \| Abnormal pyramidal signs \| 1 HP:0002719 \| infections, recurrent \| 1 HP:0012651 \| Abasia \| 1 HP:0001272 \| Cerebellar atrophy \| 1 HP:0002145 \| Frontotemporal dementia \| 1 HP:0001270 \| Motor retardation \| 1 HP:0002071 \| Extrapyramidal dysfunction \| 1 HP:0002350 \| Cerebellar cyst \| 1 HP:0000090 \| juvenile nephronophthisis \| 1 HP:0007018 \| Attention deficits \| 1 HP:0001268 \| Mental deterioration \| 1 HP:0001300 \| Parkinsonism \| 1

Disease ID	561
Disease	apraxia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:3) C2681933 \| parkinson disease C0242422 \| parkinsonism C0005747 \| blepharospasm
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C0005747 \| blepharospasm \| 4 C0030567 \| parkinson disease \| 2 C0242422 \| parkinsonism \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs75932628	25027412	54209	TREM2	umls:C0003635	BeFree	Spanish AD TREM2 p.R47H carriers showed apraxia (9 of 9) and psychiatric symptoms such as personality changes, anxiety, paranoia, or fears more frequently than in AD noncarriers (corrected p = 0.039).	0.000271442	2014	TREM2;LOC105375056	6	41161514	C	A,T

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.)

Disease ID	561
Disease	apraxia
Case	(Waiting for update.)

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