PedAM

Pediatric Disease Annotations & Medicines


	social phobia

Disease ID	1454
Disease	social phobia
Definition	An anxiety disorder characterized by an intense, irrational fear of one or more social or performance situations in which the individual believes that he or she will be scrutinized by others. Exposure to social situations immediately provokes an anxiety response. In adults, the social phobia is recognized as excessive or unreasonable.
Synonym	#NAME? anxiety disorder social anxiety disorder, social anxiety disorders social anxiety disorders, social disorder social phobia disorder, social anxiety disorders phobia social disorders, social anxiety phobia social phobia, social phobia, social [disease/finding] phobias social phobias, social social anxiety disorder social anxiety disorders social phobia (disorder) social phobia disorder social phobia, nos social phobias social phobic disorders
DOID	DOID:11257
UMLS	C0031572
MeSH	D000072861
SNOMED-CT	SNOMEDCT_US_2016_09_01:25501002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:22) C0003467 \| anxiety \| 28 C0001818 \| agoraphobia \| 13 C0011570 \| depression \| 12 C0003469 \| anxiety disorder \| 7 C0030319 \| panic disorder \| 7 C0028768 \| obsessive-compulsive disorder \| 3 C0030567 \| parkinson's disease \| 3 C0003469 \| anxiety disorders \| 3 C0001144 \| acne vulgaris \| 2 C0041696 \| major depressive disorder \| 2 C0270549 \| generalized anxiety disorder \| 1 C0033953 \| sexual dysfunction \| 1 C0030567 \| parkinson disease \| 1 C0037317 \| sleep disturbance \| 1 C0004936 \| mental disorders \| 1 C0236801 \| specific phobia \| 1 C0029121 \| oppositional defiant disorder \| 1 C0149931 \| migraine \| 1 C0004352 \| autism \| 1 C0037317 \| sleep disturbances \| 1 C0041696 \| major depression \| 1 C0013415 \| dysthymic disorder \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:34) 5020 \| OXT \| DISEASES 6530 \| SLC6A2 \| DISEASES 1571 \| CYP2E1 \| DISEASES 80326 \| WNT10A \| DISEASES 3417 \| IDH1 \| DISEASES 6532 \| SLC6A4 \| DISEASES 55749 \| CCAR1 \| DISEASES 6531 \| SLC6A3 \| DISEASES 51594 \| NBAS \| DISEASES 151516 \| ASPRV1 \| DISEASES 3350 \| HTR1A \| DISEASES 5021 \| OXTR \| DISEASES 3418 \| IDH2 \| DISEASES 23762 \| OSBP2 \| DISEASES 885 \| CCK \| DISEASES 3988 \| LIPA \| DISEASES 3363 \| HTR7 \| DISEASES 4128 \| MAOA \| DISEASES 1508 \| CTSB \| DISEASES 3359 \| HTR3A \| DISEASES 8936 \| WASF1 \| DISEASES 5792 \| PTPRF \| DISEASES 11169 \| WDHD1 \| DISEASES 3351 \| HTR1B \| DISEASES 2332 \| FMR1 \| DISEASES 3055 \| HCK \| DISEASES 83715 \| ESPN \| DISEASES 4129 \| MAOB \| DISEASES 3356 \| HTR2A \| DISEASES 12 \| SERPINA3 \| DISEASES 1394 \| CRHR1 \| DISEASES 284252 \| KCTD1 \| DISEASES 503542 \| SPRN \| DISEASES 11201 \| POLI \| DISEASES
Locus	(Waiting for update.)

Disease ID	1454
Disease	social phobia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:20) HP:0000739 \| Anxiety \| 28 HP:0000756 \| Fear of open spaces \| 13 HP:0000716 \| Depression \| 12 HP:0000722 \| Obsessive compulsive disorder \| 3 HP:0001041 \| Blushing \| 2 HP:0000752 \| Hyperactive behavior \| 2 HP:0100785 \| Insomnia \| 2 HP:0001061 \| Acne \| 2 HP:0012075 \| Personality disorder \| 2 HP:0011675 \| Arrhythmias \| 1 HP:0012532 \| Chronic pain \| 1 HP:0008760 \| Violent behavior \| 1 HP:0012531 \| Pain \| 1 HP:0004308 \| Ventricular arrhythmia \| 1 HP:0001631 \| Atria septal defect \| 1 HP:0000717 \| Autism \| 1 HP:0002076 \| Migraine headaches \| 1 HP:0010865 \| Oppositional defiant disorder \| 1 HP:0002360 \| Sleep disturbance \| 1 HP:0002500 \| Leukoaraiosis \| 1

Disease ID	1454
Disease	social phobia
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C0003467 \| anxiety \| 20 C0003469 \| anxiety disorder \| 6 C0003469 \| anxiety disorders \| 1

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

All Snps(Total Genotypes:11)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs2306073	20122683	56938	ARNTL2	umls:C0031572	BeFree	Single nucleotide polymorphisms in two genes showed some evidence for association to social phobia: in ARNTL2 rs2306073 (p = .0099) and in DRD2 rs7131056 (p = .0084).	0.000542884	2010	ARNTL2;ARNTL2-AS1	12	27402904	C	T
rs2306073	22538398	56938	ARNTL2	umls:C0031572	BeFree	Concerning anxiety disorders and alcohol use disorders, the current findings are preliminary and need further verification to explain the association of ARNTL2, being suggestive only, with social phobia (rs2306073) and with alcohol abuse (rs7958822, rs4964057).	0.000542884	2012	ARNTL2;ARNTL2-AS1	12	27402904	C	T
rs2306073	20122683	1813	DRD2	umls:C0031572	BeFree	Single nucleotide polymorphisms in two genes showed some evidence for association to social phobia: in ARNTL2 rs2306073 (p = .0099) and in DRD2 rs7131056 (p = .0084).	0.000271442	2010	ARNTL2;ARNTL2-AS1	12	27402904	C	T
rs25531	18629430	6532	SLC6A4	umls:C0031572	BeFree	The less active 5-HTTLPR genotypes were nominally significantly associated with increased blushing propensity in patients with social anxiety disorder as compared to controls with an equidirectional trend for the less active 5-HTTLPR/rs25531 haplotypes.	0.001357209	2009	SLC6A4;LOC105371720	17	30237328	T	C
rs25531	25675343	6532	SLC6A4	umls:C0031572	BeFree	Utilizing a triallelic assay (5-HTTLPR and rs25531) to assess genetic variation linked with altered serotonin signaling, this fMRI study investigated genetic influences on amygdala and anterior insula activity in 50 generalized anxiety disorder patients, 26 of whom also met DSM-IV criteria for social anxiety disorder and/or major depressive disorder, and 39 healthy comparison subjects.	0.001357209	2014	SLC6A4;LOC105371720	17	30237328	T	C
rs4606	18316676	6012	RIEG2	umls:C0031572	BeFree	In independent samples, RGS2 markers, including rs4606, which has previously been associated with RGS2 expression, were also associated with introversion (a core personality trait in social anxiety disorder) and with increased limbic activation (insular cortex and amygdala) during emotion processing (brain phenotypes correlated with social anxiety).	0.000542884	2008	RGS2	1	192812042	C	G,T
rs4964057	22538398	56938	ARNTL2	umls:C0031572	BeFree	Concerning anxiety disorders and alcohol use disorders, the current findings are preliminary and need further verification to explain the association of ARNTL2, being suggestive only, with social phobia (rs2306073) and with alcohol abuse (rs7958822, rs4964057).	0.000542884	2012	ARNTL2	12	27363909	T	G
rs6855911	24204615	56606	SLC2A9	umls:C0031572	BeFree	Further analyses using SLC2A9 rs6855911 variant, known to be strongly associated with SUA, supported the quadratic relationship observed between SUA phenotype and social phobia.	0.000271442	2013	SLC2A9	4	9934286	A	G
rs7131056	20122683	1813	DRD2	umls:C0031572	BeFree	Single nucleotide polymorphisms in two genes showed some evidence for association to social phobia: in ARNTL2 rs2306073 (p = .0099) and in DRD2 rs7131056 (p = .0084).	0.000271442	2010	DRD2	11	113459052	A	C
rs7131056	20122683	56938	ARNTL2	umls:C0031572	BeFree	Single nucleotide polymorphisms in two genes showed some evidence for association to social phobia: in ARNTL2 rs2306073 (p = .0099) and in DRD2 rs7131056 (p = .0084).	0.000542884	2010	DRD2	11	113459052	A	C
rs7958822	22538398	56938	ARNTL2	umls:C0031572	BeFree	Concerning anxiety disorders and alcohol use disorders, the current findings are preliminary and need further verification to explain the association of ARNTL2, being suggestive only, with social phobia (rs2306073) and with alcohol abuse (rs7958822, rs4964057).	0.000542884	2012	ARNTL2	12	27348173	G	A

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:0)
(Waiting for update.)

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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