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	essential tremor

Disease ID	168
Disease	essential tremor
Definition	A relatively common disorder characterized by a fairly specific pattern of tremors which are most prominent in the upper extremities and neck, inducing titubations of the head. The tremor is usually mild, but when severe may be disabling. An autosomal dominant pattern of inheritance may occur in some families (i.e., familial tremor). (Mov Disord 1988;13(1):5-10)
Synonym	benign essential tremor benign essential tremor (disorder) benign essential tremor (disorder) [ambiguous] benign essential tremor syndrome benign essential tremors essential benign tremor essential benign tremors essential tremor (disorder) essential tremor (finding) essential tremor [disease/finding] essential tremor, benign essential tremors essential tremors, benign physiological tremor presenile tremor syndrome tremor essential tremor, benign essential tremor, essential tremors, benign essential tremors, essential
DOID	DOID:4990
ICD10	ICD10CM:G25.0
UMLS	C0270736
MeSH	D020329
SNOMED-CT	SNOMEDCT_US_2016_09_01:609558009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:19) C0030567 \| parkinson's disease \| 5 C0679466 \| cognitive deficits \| 3 C0013421 \| dystonia \| 3 C0497327 \| dementia \| 2 C0004134 \| ataxia \| 2 C0949445 \| cervical dystonia \| 1 C0011570 \| depression \| 1 C0851578 \| sleep disorders \| 1 C0149931 \| migraine \| 1 C0014544 \| epileptic seizure \| 1 C0030567 \| parkinson disease \| 1 C0003467 \| anxiety \| 1 C0004138 \| hereditary ataxia \| 1 C1261473 \| sarcoma \| 1 C0001973 \| alcoholism \| 1 C0037317 \| sleep disturbance \| 1 C0037317 \| sleep disturbances \| 1 C0006325 \| bruxism \| 1 C0007959 \| charcot-marie-tooth disease \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) 2554 \| GABRA1 \| CTD_human 6506 \| SLC1A2 \| GWASCAT 23317 \| DNAJC13 \| CLINVAR 84894 \| LINGO1 \| CTD_human;GWASCAT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:16) 125 \| ADH1B \| CIPHER 210 \| ALAD \| CIPHER 338 \| APOB \| CIPHER 1558 \| CYP2C8 \| CIPHER 1559 \| CYP2C9 \| CIPHER 1565 \| CYP2D6 \| CIPHER 1814 \| DRD3 \| CIPHER 2112 \| ETM2 \| CIPHER 2332 \| FMR1 \| CIPHER 2554 \| GABRA1 \| CIPHER;CTD_human 2950 \| GSTP1 \| CIPHER 84894 \| LINGO1 \| CIPHER;CTD_human 120892 \| LRRK2 \| CIPHER 4524 \| MTHFR \| CIPHER 5071 \| PARK2 \| CIPHER 6334 \| SCN8A \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:78) 130013 \| ACMSD \| 2.245 \| DISEASES 151 \| ADRA2B \| 1.753 \| DISEASES 2334 \| AFF2 \| 1.038 \| DISEASES 210 \| ALAD \| 2.212 \| DISEASES 367 \| AR \| 1.074 \| DISEASES 6311 \| ATXN2 \| 1.034 \| DISEASES 11273 \| ATXN2L \| 2.556 \| DISEASES 6315 \| ATXN8OS \| 2.609 \| DISEASES 114781 \| BTBD9 \| 1.982 \| DISEASES 78996 \| C7orf49 \| 2.313 \| DISEASES 203228 \| C9orf72 \| 1.784 \| DISEASES 773 \| CACNA1A \| 1.151 \| DISEASES 8913 \| CACNA1G \| 2.316 \| DISEASES 8911 \| CACNA1I \| 2.308 \| DISEASES 779 \| CACNA1S \| 1.39 \| DISEASES 820 \| CAMP \| 4.247 \| DISEASES 51142 \| CHCHD2 \| 3.213 \| DISEASES 1114 \| CHGB \| 1.362 \| DISEASES 1121 \| CHM \| 2.126 \| DISEASES 29119 \| CTNNA3 \| 1.556 \| DISEASES 1557 \| CYP2C19 \| 1.938 \| DISEASES 1558 \| CYP2C8 \| 1.079 \| DISEASES 1810 \| DR1 \| 1.354 \| DISEASES 1814 \| DRD3 \| 5.665 \| DISEASES 1907 \| EDN2 \| 1.013 \| DISEASES 56478 \| EIF4ENIF1 \| 3.408 \| DISEASES 1981 \| EIF4G1 \| 2.15 \| DISEASES 2048 \| EPHB2 \| 1.974 \| DISEASES 2130 \| EWSR1 \| 1.549 \| DISEASES 2332 \| FMR1 \| 3.138 \| DISEASES 2564 \| GABRE \| 2.251 \| DISEASES 55879 \| GABRQ \| 2.932 \| DISEASES 2569 \| GABRR1 \| 2.282 \| DISEASES 2570 \| GABRR2 \| 2.378 \| DISEASES 200959 \| GABRR3 \| 2.5 \| DISEASES 2643 \| GCH1 \| 3.409 \| DISEASES 26058 \| GIGYF2 \| 3.06 \| DISEASES 2914 \| GRM4 \| 1.445 \| DISEASES 2996 \| GYPE \| 1.08 \| DISEASES 3178 \| HNRNPA1 \| 1.961 \| DISEASES 3181 \| HNRNPA2B1 \| 1.096 \| DISEASES 8518 \| IKBKAP \| 1.353 \| DISEASES 102723508 \| KANTR \| 2.53 \| DISEASES 84894 \| LINGO1 \| 6.627 \| DISEASES 339398 \| LINGO4 \| 3.832 \| DISEASES 3988 \| LIPA \| 1.067 \| DISEASES 7873 \| MANF \| 2.866 \| DISEASES 4129 \| MAOB \| 1.025 \| DISEASES 4137 \| MAPT \| 1.691 \| DISEASES 4148 \| MATN3 \| 1.298 \| DISEASES 83881 \| MIXL1 \| 1.217 \| DISEASES 170685 \| NUDT10 \| 1.749 \| DISEASES 4958 \| OMD \| 2.352 \| DISEASES 5071 \| PARK2 \| 2.651 \| DISEASES 5309 \| PITX3 \| 1.237 \| DISEASES 5521 \| PPP2R2B \| 3.063 \| DISEASES 23369 \| PUM2 \| 3.001 \| DISEASES 11030 \| RBPMS \| 2.148 \| DISEASES 5979 \| RET \| 1.387 \| DISEASES 23322 \| RPGRIP1L \| 4.318 \| DISEASES 57142 \| RTN4 \| 1.264 \| DISEASES 404552 \| SCGB1D4 \| 1.146 \| DISEASES 6329 \| SCN4A \| 1.276 \| DISEASES 6334 \| SCN8A \| 1.268 \| DISEASES 8910 \| SGCE \| 2.098 \| DISEASES 6575 \| SLC20A2 \| 1.448 \| DISEASES 6609 \| SMPD1 \| 1.545 \| DISEASES 6622 \| SNCA \| 2.796 \| DISEASES 27347 \| STK39 \| 1.404 \| DISEASES 6949 \| TCOF1 \| 4.417 \| DISEASES 7053 \| TGM3 \| 1.153 \| DISEASES 7054 \| TH \| 1.282 \| DISEASES 29058 \| TMEM230 \| 2.668 \| DISEASES 8794 \| TNFRSF10C \| 1.082 \| DISEASES 9804 \| TOMM20 \| 1.865 \| DISEASES 1861 \| TOR1A \| 2.384 \| DISEASES 64854 \| USP46 \| 2.751 \| DISEASES 165904 \| XIRP1 \| 1.96 \| DISEASES
Locus	(Waiting for update.)

Disease ID	168
Disease	essential tremor
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:31) HP:0001337 \| Tremor \| 34 HP:0100543 \| Cognitive deficits \| 6 HP:0002322 \| Resting tremor \| 5 HP:0001332 \| Dystonia \| 3 HP:0001251 \| Ataxia \| 2 HP:0100022 \| Movement disorder \| 2 HP:0002346 \| Head tremor \| 2 HP:0000708 \| Behavioral problems \| 2 HP:0000726 \| Dementia \| 2 HP:0000360 \| Ringing in the ears \| 2 HP:0001300 \| Parkinsonism \| 2 HP:0030186 \| Essential tremor \| 1 HP:0001335 \| Bimanual synkinesia \| 1 HP:0002076 \| Migraine headaches \| 1 HP:0002063 \| Muscle rigidity \| 1 HP:0100315 \| Lewy bodies \| 1 HP:0001288 \| Gait disturbance \| 1 HP:0100242 \| Sarcoma \| 1 HP:0002174 \| Postural tremor \| 1 HP:0000739 \| Anxiety \| 1 HP:0200085 \| Limb tremor \| 1 HP:0002360 \| Sleep disturbance \| 1 HP:0001260 \| Dysarthric speech \| 1 HP:0003763 \| Bruxism \| 1 HP:0000716 \| Depression \| 1 HP:0000473 \| Spasmodic torticollis \| 1 HP:0002180 \| Neurodegeneration \| 1 HP:0000741 \| Apathy \| 1 HP:0002080 \| Intention tremor \| 1 HP:0002066 \| Gait ataxia \| 1 HP:0006855 \| Atrophy of the cerebellar vermis \| 1

Disease ID	168
Disease	essential tremor
Manually Symptom	UMLS \| Name(Total Manually Symptoms:33) C2712322 \| tachycardia C2707011 \| behavioral symptoms C2364072 \| depression C1521736 \| parkinson's disease C1384666 \| hearing impairment C1334804 \| motor manifestations C1261201 \| mirror movements C1135207 \| ataxia C0751837 \| gait ataxia C0740852 \| upper airway obstruction C0740279 \| cerebellar atrophy C0679466 \| cognitive deficits C0575081 \| gait abnormality C0497327 \| dementia C0424295 \| hyperkinesis C0393612 \| isolated head tremor C0268457 \| aminoacidemia C0242422 \| parkinsonism C0235169 \| excitability C0235081 \| limb tremor C0234379 \| rest tremor C0234378 \| postural tremor C0234376 \| intention tremor C0233565 \| bradykinesia C0040822 \| tremors C0036939 \| induced psychosis C0035258 \| restless legs syndrome C0031572 \| social phobia C0026650 \| movement disorder C0025517 \| metabolic disorders C0007959 \| charcot-marie-tooth disease C0007760 \| cerebellar dysfunction C0001973 \| alcoholism
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:16) C0234379 \| rest tremor \| 5 C0030567 \| parkinson's disease \| 5 C0679466 \| cognitive deficits \| 3 C0004134 \| ataxia \| 2 C0040822 \| tremors \| 2 C0242422 \| parkinsonism \| 2 C0026650 \| movement disorder \| 2 C0497327 \| dementia \| 2 C0234378 \| postural tremor \| 1 C0001973 \| alcoholism \| 1 C0007959 \| charcot-marie-tooth disease \| 1 C0454455 \| mirror movements \| 1 C0011570 \| depression \| 1 C0751837 \| gait ataxia \| 1 C0235081 \| limb tremor \| 1 C0234376 \| intention tremor \| 1

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

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

All Snps(Total Genotypes:51)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1051308	26091465	3163	HMOX2	umls:C0270736	BeFree	The present study suggests a weak association between HMOX1 rs2071746 and HMOX2 rs1051308 polymorphisms and the risk to develop ET in the Spanish population.	0.000271442	2015	HMOX2;CDIP1	16	4510300	G	A
rs11558538	18543121	3176	HNMT	umls:C0270736	BeFree	The nonsynonymous Thr105Ile polymorphism of the histamine N-methyltransferase is associated to the risk of developing essential tremor.	0.002638474	2008	HNMT	2	138002079	C	T
rs11856808	22425540	84894	LINGO1	umls:C0270736	BeFree	LINGO1 and risk for essential tremor: results of a meta-analysis of rs9652490 and rs11856808.	0.254701468	2012	LINGO1	15	77680428	C	T
rs11856808	21219542	84894	LINGO1	umls:C0270736	BeFree	Lack of association of LINGO1 rs9652490 and rs11856808 SNPs with familial essential tremor.	0.254701468	2011	LINGO1	15	77680428	C	T
rs1186902	20820800	2569	GABRR1	umls:C0270736	BeFree	To investigate the possible association between the GABA receptor subtype rho1, rho2, and rho3 (GABRR1, GABRR2, and GABRR3) genotypes and allelic variants of the single nucleotide polymorphisms GABRR1-M26V (Met26Val, rs12200969), GABRR1-H27R (His26Arg, rs1186902), GABRR2-T455M (Thr55Met, rs282129), and GABRR3-Y205X (Tyr205X, rs832032), and the risk for ET, we studied the frequency of the previously mentioned GABRR genotypes and allelic variants in 200 patients with ET and 250 healthy controls using TaqMan genotyping.	0.000271442	2011	GABRR1	6	89217243	T	C
rs1186902	20820800	200959	GABRR3	umls:C0270736	BeFree	To investigate the possible association between the GABA receptor subtype rho1, rho2, and rho3 (GABRR1, GABRR2, and GABRR3) genotypes and allelic variants of the single nucleotide polymorphisms GABRR1-M26V (Met26Val, rs12200969), GABRR1-H27R (His26Arg, rs1186902), GABRR2-T455M (Thr55Met, rs282129), and GABRR3-Y205X (Tyr205X, rs832032), and the risk for ET, we studied the frequency of the previously mentioned GABRR genotypes and allelic variants in 200 patients with ET and 250 healthy controls using TaqMan genotyping.	0.000271442	2011	GABRR1	6	89217243	T	C
rs1186902	20820800	2570	GABRR2	umls:C0270736	BeFree	To investigate the possible association between the GABA receptor subtype rho1, rho2, and rho3 (GABRR1, GABRR2, and GABRR3) genotypes and allelic variants of the single nucleotide polymorphisms GABRR1-M26V (Met26Val, rs12200969), GABRR1-H27R (His26Arg, rs1186902), GABRR2-T455M (Thr55Met, rs282129), and GABRR3-Y205X (Tyr205X, rs832032), and the risk for ET, we studied the frequency of the previously mentioned GABRR genotypes and allelic variants in 200 patients with ET and 250 healthy controls using TaqMan genotyping.	0.000271442	2011	GABRR1	6	89217243	T	C
rs12200969	20820800	2570	GABRR2	umls:C0270736	BeFree	To investigate the possible association between the GABA receptor subtype rho1, rho2, and rho3 (GABRR1, GABRR2, and GABRR3) genotypes and allelic variants of the single nucleotide polymorphisms GABRR1-M26V (Met26Val, rs12200969), GABRR1-H27R (His26Arg, rs1186902), GABRR2-T455M (Thr55Met, rs282129), and GABRR3-Y205X (Tyr205X, rs832032), and the risk for ET, we studied the frequency of the previously mentioned GABRR genotypes and allelic variants in 200 patients with ET and 250 healthy controls using TaqMan genotyping.	0.000271442	2011	GABRR1	6	89217247	T	C
rs12200969	20820800	2569	GABRR1	umls:C0270736	BeFree	To investigate the possible association between the GABA receptor subtype rho1, rho2, and rho3 (GABRR1, GABRR2, and GABRR3) genotypes and allelic variants of the single nucleotide polymorphisms GABRR1-M26V (Met26Val, rs12200969), GABRR1-H27R (His26Arg, rs1186902), GABRR2-T455M (Thr55Met, rs282129), and GABRR3-Y205X (Tyr205X, rs832032), and the risk for ET, we studied the frequency of the previously mentioned GABRR genotypes and allelic variants in 200 patients with ET and 250 healthy controls using TaqMan genotyping.	0.000271442	2011	GABRR1	6	89217247	T	C
rs12200969	20820800	200959	GABRR3	umls:C0270736	BeFree	To investigate the possible association between the GABA receptor subtype rho1, rho2, and rho3 (GABRR1, GABRR2, and GABRR3) genotypes and allelic variants of the single nucleotide polymorphisms GABRR1-M26V (Met26Val, rs12200969), GABRR1-H27R (His26Arg, rs1186902), GABRR2-T455M (Thr55Met, rs282129), and GABRR3-Y205X (Tyr205X, rs832032), and the risk for ET, we studied the frequency of the previously mentioned GABRR genotypes and allelic variants in 200 patients with ET and 250 healthy controls using TaqMan genotyping.	0.000271442	2011	GABRR1	6	89217247	T	C
rs138287627	25375143	2130	EWSR1	umls:C0270736	BeFree	We identified a rare EWSR1 p.R471C substitution, which is highly conserved, in a single subject with familial ET.	0.000271442	2014	EWSR1	22	29297943	C	T
rs146603794	20820800	200959	GABRR3	umls:C0270736	BeFree	To investigate the possible association between the GABA receptor subtype rho1, rho2, and rho3 (GABRR1, GABRR2, and GABRR3) genotypes and allelic variants of the single nucleotide polymorphisms GABRR1-M26V (Met26Val, rs12200969), GABRR1-H27R (His26Arg, rs1186902), GABRR2-T455M (Thr55Met, rs282129), and GABRR3-Y205X (Tyr205X, rs832032), and the risk for ET, we studied the frequency of the previously mentioned GABRR genotypes and allelic variants in 200 patients with ET and 250 healthy controls using TaqMan genotyping.	0.000271442	2011	GABRR1	6	89198164	A	G
rs146603794	20820800	2569	GABRR1	umls:C0270736	BeFree	To investigate the possible association between the GABA receptor subtype rho1, rho2, and rho3 (GABRR1, GABRR2, and GABRR3) genotypes and allelic variants of the single nucleotide polymorphisms GABRR1-M26V (Met26Val, rs12200969), GABRR1-H27R (His26Arg, rs1186902), GABRR2-T455M (Thr55Met, rs282129), and GABRR3-Y205X (Tyr205X, rs832032), and the risk for ET, we studied the frequency of the previously mentioned GABRR genotypes and allelic variants in 200 patients with ET and 250 healthy controls using TaqMan genotyping.	0.000271442	2011	GABRR1	6	89198164	A	G
rs146603794	20820800	2570	GABRR2	umls:C0270736	BeFree	To investigate the possible association between the GABA receptor subtype rho1, rho2, and rho3 (GABRR1, GABRR2, and GABRR3) genotypes and allelic variants of the single nucleotide polymorphisms GABRR1-M26V (Met26Val, rs12200969), GABRR1-H27R (His26Arg, rs1186902), GABRR2-T455M (Thr55Met, rs282129), and GABRR3-Y205X (Tyr205X, rs832032), and the risk for ET, we studied the frequency of the previously mentioned GABRR genotypes and allelic variants in 200 patients with ET and 250 healthy controls using TaqMan genotyping.	0.000271442	2011	GABRR1	6	89198164	A	G
rs2071746	26091465	3163	HMOX2	umls:C0270736	BeFree	The present study suggests a weak association between HMOX1 rs2071746 and HMOX2 rs1051308 polymorphisms and the risk to develop ET in the Spanish population.	0.000271442	2015	HMOX1	22	35380679	A	T
rs282129	20820800	200959	GABRR3	umls:C0270736	BeFree	To investigate the possible association between the GABA receptor subtype rho1, rho2, and rho3 (GABRR1, GABRR2, and GABRR3) genotypes and allelic variants of the single nucleotide polymorphisms GABRR1-M26V (Met26Val, rs12200969), GABRR1-H27R (His26Arg, rs1186902), GABRR2-T455M (Thr55Met, rs282129), and GABRR3-Y205X (Tyr205X, rs832032), and the risk for ET, we studied the frequency of the previously mentioned GABRR genotypes and allelic variants in 200 patients with ET and 250 healthy controls using TaqMan genotyping.	0.000271442	2011	GABRR2	6	89257779	G	A
rs282129	20820800	2569	GABRR1	umls:C0270736	BeFree	To investigate the possible association between the GABA receptor subtype rho1, rho2, and rho3 (GABRR1, GABRR2, and GABRR3) genotypes and allelic variants of the single nucleotide polymorphisms GABRR1-M26V (Met26Val, rs12200969), GABRR1-H27R (His26Arg, rs1186902), GABRR2-T455M (Thr55Met, rs282129), and GABRR3-Y205X (Tyr205X, rs832032), and the risk for ET, we studied the frequency of the previously mentioned GABRR genotypes and allelic variants in 200 patients with ET and 250 healthy controls using TaqMan genotyping.	0.000271442	2011	GABRR2	6	89257779	G	A
rs282129	20820800	2570	GABRR2	umls:C0270736	BeFree	To investigate the possible association between the GABA receptor subtype rho1, rho2, and rho3 (GABRR1, GABRR2, and GABRR3) genotypes and allelic variants of the single nucleotide polymorphisms GABRR1-M26V (Met26Val, rs12200969), GABRR1-H27R (His26Arg, rs1186902), GABRR2-T455M (Thr55Met, rs282129), and GABRR3-Y205X (Tyr205X, rs832032), and the risk for ET, we studied the frequency of the previously mentioned GABRR genotypes and allelic variants in 200 patients with ET and 250 healthy controls using TaqMan genotyping.	0.000271442	2011	GABRR2	6	89257779	G	A
rs33949390	25761573	120892	LRRK2	umls:C0270736	BeFree	Lrrk2 R1628P variant is a risk factor for essential tremor.	0.008544182	2015	LRRK2	12	40320043	G	A,C,T
rs34015634	16939701	120892	LRRK2	umls:C0270736	BeFree	The LRRK2 I2012T, G2019S and I2020T mutations are not common in patients with essential tremor.	0.008544182	2006	LRRK2	12	40340380	T	C
rs34410987	17482357	120892	LRRK2	umls:C0270736	BeFree	To evaluate the frequency of the LRRK2 P755L variant in North American Caucasian patients with PD, we screened 426 PD patients and 37 additional patients with the combination of PD and essential tremor (ET) from our Parkinson Disease Center and Movement Clinic at Baylor College of Medicine.	0.008544182	2007	LRRK2	12	40283897	C	T
rs34637584	16939701	120892	LRRK2	umls:C0270736	BeFree	The LRRK2 I2012T, G2019S and I2020T mutations are not common in patients with essential tremor.	0.008544182	2006	LRRK2	12	40340400	G	A
rs34778348	18316234	120892	LRRK2	umls:C0270736	BeFree	Essential tremor and the common LRRK2 G2385R variant.	0.008544182	2008	LRRK2;LOC105369736	12	40363526	G	A
rs35870237	16939701	120892	LRRK2	umls:C0270736	BeFree	The LRRK2 I2012T, G2019S and I2020T mutations are not common in patients with essential tremor.	0.008544182	2006	LRRK2	12	40340404	T	C
rs3794087	22764253	6506	SLC1A2	umls:C0270736	GWASCAT	Polymorphisms in the glial glutamate transporter SLC1A2 are associated with essential tremor.	0.121628651	2012	SLC1A2	11	35308068	G	T
rs3794087	23949322	6506	SLC1A2	umls:C0270736	BeFree	No association of the SLC1A2 rs3794087 allele with risk for essential tremor in the Spanish population.	0.121628651	2014	SLC1A2	11	35308068	G	T
rs3794087	24139280	6506	SLC1A2	umls:C0270736	BeFree	SLC1A2 rs3794087 does not associate with essential tremor.	0.121628651	2013	SLC1A2	11	35308068	G	T
rs387907274	24080306	2521	FUS	umls:C0270736	BeFree	Exome sequencing in a large essential tremor (ET) family identified a novel nonsense mutation (p.Q290X) in the fused in sarcoma gene (FUS) as the cause of this family.	0.003528744	2013	FUS	16	31189158	C	T
rs387907571	NA	23317	DNAJC13	umls:C0270736	CLINVAR	NA	0.120271442	NA	DNAJC13	3	132477995	A	G
rs387907571	25118025	23317	DNAJC13	umls:C0270736	BeFree	Although a genetic link between PD and ET has been suggested, DNAJC13 c.2564A>G (p.(N855S)) represents the first disease-causing variant identified in both, and suggests the regulation of clathrin dynamics and endosomal trafficking in the pathophysiology of a subset of ET patients.	0.120271442	2014	DNAJC13	3	132477995	A	G
rs397507444	15390052	4524	MTHFR	umls:C0270736	BeFree	Association of the C677T and A1298C polymorphisms of methylenetetrahydrofolate reductase gene in patients with essential tremor in Turkey.	0.002638474	2004	MTHFR	1	11794407	T	G
rs6280	24054403	1814	DRD3	umls:C0270736	BeFree	Meta-analysis of the influence of DRD3 Ser9Gly variant on susceptibility for essential tremor.	0.023808397	2013	DRD3	3	114171968	C	T
rs6280	20434388	1814	DRD3	umls:C0270736	BeFree	Recently, an association between the dopamine D(3) receptor (DRD3) Ser9Gly polymorphism and ET has been reported.	0.023808397	2010	DRD3	3	114171968	C	T
rs6280	24728302	1814	DRD3	umls:C0270736	BeFree	Our data suggest that essential tremor patients have a higher risk of lifetime migraine than do controls and the dopamine receptor D3 Ser9Gly variant may be lower in essential tremor with migraine than the general essential tremor patients.	0.023808397	2015	DRD3	3	114171968	C	T
rs72470545	25422467	27429	HTRA2	umls:C0270736	BeFree	Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease.	0.000271442	2015	HTRA2;LOXL3	2	74532698	G	A
rs75932628	25585992	54209	TREM2	umls:C0270736	BeFree	TREM2 R47H variant and risk of essential tremor: a cross-sectional international multicenter study.	0.000271442	2014	TREM2;LOC105375056	6	41161514	C	A,T
rs832032	20820800	2569	GABRR1	umls:C0270736	BeFree	To investigate the possible association between the GABA receptor subtype rho1, rho2, and rho3 (GABRR1, GABRR2, and GABRR3) genotypes and allelic variants of the single nucleotide polymorphisms GABRR1-M26V (Met26Val, rs12200969), GABRR1-H27R (His26Arg, rs1186902), GABRR2-T455M (Thr55Met, rs282129), and GABRR3-Y205X (Tyr205X, rs832032), and the risk for ET, we studied the frequency of the previously mentioned GABRR genotypes and allelic variants in 200 patients with ET and 250 healthy controls using TaqMan genotyping.	0.000271442	2011	GABRR3	3	98007903	A	G,T
rs832032	20820800	2570	GABRR2	umls:C0270736	BeFree	To investigate the possible association between the GABA receptor subtype rho1, rho2, and rho3 (GABRR1, GABRR2, and GABRR3) genotypes and allelic variants of the single nucleotide polymorphisms GABRR1-M26V (Met26Val, rs12200969), GABRR1-H27R (His26Arg, rs1186902), GABRR2-T455M (Thr55Met, rs282129), and GABRR3-Y205X (Tyr205X, rs832032), and the risk for ET, we studied the frequency of the previously mentioned GABRR genotypes and allelic variants in 200 patients with ET and 250 healthy controls using TaqMan genotyping.	0.000271442	2011	GABRR3	3	98007903	A	G,T
rs832032	20820800	200959	GABRR3	umls:C0270736	BeFree	To investigate the possible association between the GABA receptor subtype rho1, rho2, and rho3 (GABRR1, GABRR2, and GABRR3) genotypes and allelic variants of the single nucleotide polymorphisms GABRR1-M26V (Met26Val, rs12200969), GABRR1-H27R (His26Arg, rs1186902), GABRR2-T455M (Thr55Met, rs282129), and GABRR3-Y205X (Tyr205X, rs832032), and the risk for ET, we studied the frequency of the previously mentioned GABRR genotypes and allelic variants in 200 patients with ET and 250 healthy controls using TaqMan genotyping.	0.000271442	2011	GABRR3	3	98007903	A	G,T
rs9652490	20951767	84894	LINGO1	umls:C0270736	BeFree	Recently, rs9652490 variant in the leucine-rich repeat and Ig domain containing 1 gene (LINGO1) was found to be associated with ET susceptibility.	0.254701468	2011	LINGO1	15	77671545	A	G
rs9652490	23951268	84894	LINGO1	umls:C0270736	BeFree	The first genome-wide association study (GWAS) has identified an association of the LINGO1 variant (rs9652490) with ET in Americans and Europeans.	0.254701468	2013	LINGO1	15	77671545	A	G
rs9652490	22425540	84894	LINGO1	umls:C0270736	BeFree	LINGO1 and risk for essential tremor: results of a meta-analysis of rs9652490 and rs11856808.	0.254701468	2012	LINGO1	15	77671545	A	G
rs9652490	20117178	84894	LINGO1	umls:C0270736	BeFree	Recently, a variant in LINGO1 (also denominated as LRRN6A) rs9652490:A>G gene has been found to associate with increased risk of essential tremor (ET).	0.254701468	2010	LINGO1	15	77671545	A	G
rs9652490	22166413	84894	LINGO1	umls:C0270736	BeFree	Recently, the first genome-wide association study in ET followed by replication studies conducted in diverse populations identified a significant association between the leucine-rich repeat and Ig domain containing 1 gene (LINGO1) SNP rs9652490 and risk for ET Although further novel variants were indentified in LINGO1 and its paralog LINGO2 that may be associated with risk for ET, the pathogenic mechanisms involved remain elusive.	0.254701468	2012	LINGO1	15	77671545	A	G
rs9652490	19182806	84894	LINGO1	umls:C0270736	GWASCAT	Variant in the sequence of the LINGO1 gene confers risk of essential tremor.	0.254701468	2009	LINGO1	15	77671545	A	G
rs9652490	21219542	84894	LINGO1	umls:C0270736	BeFree	Lack of association of LINGO1 rs9652490 and rs11856808 SNPs with familial essential tremor.	0.254701468	2011	LINGO1	15	77671545	A	G
rs9652490	19182806	84894	LINGO1	umls:C0270736	GAD	[Variant in the sequence of the LINGO1 gene confers risk of essential tremor.]	0.254701468	2009	LINGO1	15	77671545	A	G
rs9652490	22166413	158038	LINGO2	umls:C0270736	BeFree	Recently, the first genome-wide association study in ET followed by replication studies conducted in diverse populations identified a significant association between the leucine-rich repeat and Ig domain containing 1 gene (LINGO1) SNP rs9652490 and risk for ET Although further novel variants were indentified in LINGO1 and its paralog LINGO2 that may be associated with risk for ET, the pathogenic mechanisms involved remain elusive.	0.001357209	2012	LINGO1	15	77671545	A	G
rs9652490	21752692	84894	LINGO1	umls:C0270736	BeFree	The first genome-wide association study in ET showed a significant association with the rs9652490 SNP of the leucine-rich repeat and Ig domain containing 1 (LINGO1) gene.	0.254701468	2011	LINGO1	15	77671545	A	G
rs9652490	19720553	84894	LINGO1	umls:C0270736	BeFree	LINGO1 rs9652490 is associated with essential tremor and Parkinson disease.	0.254701468	2010	LINGO1	15	77671545	A	G
rs9652490	24532269	84894	LINGO1	umls:C0270736	BeFree	Our meta-analysis confirmed the association of rs9652490 in LINGO1 with ET.	0.254701468	2014	LINGO1	15	77671545	A	G

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:2)
CHR	POS	SNPID	REF	ALT	ORI_SNPID	PMID	P_VALUE	P_VALUE_TEXT	OR/BETA	CI95_TEXT	GWAS_INITIAL_SAMPLE_SIZE	SUB_POPULATION	SUPER_POPULATION	GWAS_TRAIT	HPO_ID	HPO_TERM	DO_ID	DO_TERM	MESH_ID	MESH_TERM	EFO_ID	EFO_TERM	DOLITE_TERM	RISK_ALLELE	PUBLICATION_TYPE	AA	GENE_SYMBOL	TYPE	REFGENE
11	35329615	rs3794087	G	T	rs3794087	22764253	1.00E-07	NA	1.43	[1.26-1.64]	436 European ancestry cases; 928 European ancestry controls	European(1364)	ALL(1364)	EUR(1364)	ALL(1364)	Essential tremor	HPOID:0001337	Tremor	DOID:4990	essential tremor	D020329	Essential Tremor	EFOID:0003108	essential tremor	Movement disorder	NA	Research Support, Non-U.S. Gov't	C	SLC1A2
15	77963887	rs9652490	A	G	rs9652490	19182806	1.00E-09	NA	1.55	[1.35-1.79]	452 cases; 14,378 controls	NOPOP(14830)	ALL(14830)	NOPOP(14830)	ALL(14830)	Essential tremor	HPOID:0001337	Tremor	DOID:4990	essential tremor	D020329	Essential Tremor	EFOID:0003108	essential tremor	Movement disorder	rs9652490-G	Research Support, N.I.H., Extramural	G	NA

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	168
Disease	essential tremor
Case	(Waiting for update.)