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encyclopedia of Rare Disease Annotation for Precision Medicine

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	cervical dystonia

Disease ID	1722
Disease	cervical dystonia
Definition	A common form of DYSTONIA due to involuntary sustained or spasmodic, repetitive muscle contractions in the neck region. According to the position of the twisted neck and head, cervical dystonia can be categorized as torticollis, laterocollis, retrocollis, and a combination of these abnormal postures.
Synonym	cervical dystonias dystonia cervical
DOID	DOID:0050840
UMLS	C0949445
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:8) C0013421 \| dystonia \| 3 C0039494 \| temporomandibular disorders \| 1 C0005747 \| blepharospasm \| 1 C0037928 \| myelopathy \| 1 C0037317 \| sleep disturbance \| 1 C0037317 \| sleep disturbances \| 1 C0039494 \| temporomandibular disorder \| 1 C0743332 \| focal dystonia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 1816 \| DRD5 \| UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 348 \| APOE \| CIPHER 627 \| BDNF \| CIPHER 1816 \| DRD5 \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:48) 64400 \| AKTIP \| 1.261 \| DISEASES 6311 \| ATXN2 \| 1.223 \| DISEASES 617 \| BCS1L \| 1.046 \| DISEASES 627 \| BDNF \| 2.071 \| DISEASES 64115 \| C10orf54 \| 1.331 \| DISEASES 773 \| CACNA1A \| 1.428 \| DISEASES 820 \| CAMP \| 6.442 \| DISEASES 29965 \| CDIP1 \| 5.551 \| DISEASES 25792 \| CIZ1 \| 5.022 \| DISEASES 1201 \| CLN3 \| 1.598 \| DISEASES 1282 \| COL4A1 \| 1.298 \| DISEASES 1369 \| CPN1 \| 1.286 \| DISEASES 1486 \| CTBS \| 2.176 \| DISEASES 51428 \| DDX41 \| 3.499 \| DISEASES 1812 \| DRD1 \| 1.319 \| DISEASES 83658 \| DYNLRB1 \| 1.987 \| DISEASES 10682 \| EBP \| 2.028 \| DISEASES 5169 \| ENPP3 \| 1.18 \| DISEASES 2643 \| GCH1 \| 4.415 \| DISEASES 2774 \| GNAL \| 5.35 \| DISEASES 7918 \| GPANK1 \| 2.826 \| DISEASES 2996 \| GYPE \| 3.295 \| DISEASES 3020 \| H3F3A \| 1.576 \| DISEASES 3117 \| HLA-DQA1 \| 1.473 \| DISEASES 3118 \| HLA-DQA2 \| 1.196 \| DISEASES 3239 \| HOXD13 \| 1.493 \| DISEASES 102723508 \| KANTR \| 6.144 \| DISEASES 10749 \| KIF1C \| 3.136 \| DISEASES 4134 \| MAP4 \| 2.098 \| DISEASES 4152 \| MBD1 \| 1.894 \| DISEASES 8736 \| MYOM1 \| 2.945 \| DISEASES 4729 \| NDUFV2 \| 2.316 \| DISEASES 10528 \| NOP56 \| 2.52 \| DISEASES 4905 \| NSF \| 1.506 \| DISEASES 4958 \| OMD \| 2.63 \| DISEASES 5071 \| PARK2 \| 1.367 \| DISEASES 5521 \| PPP2R2B \| 1.763 \| DISEASES 6207 \| RPS13 \| 1.636 \| DISEASES 6418 \| SET \| 1.886 \| DISEASES 8910 \| SGCE \| 3.819 \| DISEASES 114836 \| SLAMF6 \| 2.054 \| DISEASES 23583 \| SMUG1 \| 1.912 \| DISEASES 116841 \| SNAP47 \| 2.442 \| DISEASES 6949 \| TCOF1 \| 2.504 \| DISEASES 6999 \| TDO2 \| 1.631 \| DISEASES 1861 \| TOR1A \| 5.453 \| DISEASES 90121 \| TSR2 \| 3.253 \| DISEASES 7321 \| UBE2D1 \| 1.242 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1722
Disease	cervical dystonia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:23) HP:0001337 \| Tremor \| 6 HP:0012531 \| Pain \| 3 HP:0001332 \| Dystonia \| 3 HP:0000473 \| Spasmodic torticollis \| 2 HP:0002315 \| Headaches \| 2 HP:0002360 \| Sleep disturbance \| 1 HP:0100022 \| Movement disorder \| 1 HP:0000643 \| Spontaneous closure of eyelid \| 1 HP:0004373 \| Focal dystonia \| 1 HP:0000708 \| Behavioral problems \| 1 HP:0002196 \| Myelopathy \| 1 HP:0012318 \| Occipital neuralgia \| 1 HP:0002544 \| Retrocollis \| 1 HP:0002451 \| Limb dystonia \| 1 HP:0001618 \| Dysphonia \| 1 HP:0002880 \| Respiratory difficulties \| 1 HP:0002174 \| Postural tremor \| 1 HP:0002378 \| Hand tremor \| 1 HP:0002487 \| Muscle spasms \| 1 HP:0000234 \| Head abnormality \| 1 HP:0001336 \| Myoclonic jerks \| 1 HP:0012049 \| Spasmodic dysphonia \| 1 HP:0000734 \| Disinhibition \| 1

Disease ID	1722
Disease	cervical dystonia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:11) C2598155 \| pain C2364114 \| tremor C2096315 \| headache C0872410 \| posturing C0694563 \| excessive daytime sleepiness C0598608 \| hyperhomocysteinemia C0442874 \| neuropathy C0235169 \| excitability C0235081 \| limb tremor C0151293 \| chronic headache C0011168 \| dysphagia
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:4) C0040822 \| tremor \| 6 C0030193 \| pain \| 3 C0018681 \| headache \| 2 C0872410 \| posturing \| 1

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

Text Mining Genotype(Total 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.)

Disease ID	1722
Disease	cervical dystonia
Case	(Waiting for update.)

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