PedAM

Pediatric Disease Annotations & Medicines


	bipolar i disorder

Disease ID	1729
Disease	bipolar i disorder
Synonym	bipolar 1 disorder bipolar i disorder (disorder)
DOID	DOID:14042
UMLS	C0853193
SNOMED-CT	SNOMEDCT_US_2016_09_01:371596008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:10) C0011570 \| depression \| 10 C0033975 \| psychosis \| 5 C0037315 \| sleep apnea \| 1 C0036341 \| schizophrenia \| 1 C0010964 \| dandy-walker malformation \| 1 C0041696 \| major depressive disorder \| 1 C0004352 \| autistic disorder \| 1 C0520679 \| obstructive sleep apnea \| 1 C0038436 \| posttraumatic stress disorder \| 1 C0679466 \| cognitive deficits \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 6347 \| CCL2 \| infer 1493 \| CTLA4 \| infer 3356 \| HTR2A \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:158) 1815 \| DRD4 \| DISEASES 3560 \| IL2RB \| DISEASES 6347 \| CCL2 \| DISEASES 1610 \| DAO \| DISEASES 1959 \| EGR2 \| DISEASES 3337 \| DNAJB1 \| DISEASES 51540 \| SCLY \| DISEASES 6616 \| SNAP25 \| DISEASES 1401 \| CRP \| DISEASES 8739 \| HRK \| DISEASES 3357 \| HTR2B \| DISEASES 10017 \| BCL2L10 \| DISEASES 6496 \| SIX3 \| DISEASES 9360 \| PPIG \| DISEASES 6532 \| SLC6A4 \| DISEASES 217 \| ALDH2 \| DISEASES 3249 \| HPN \| DISEASES 25939 \| SAMHD1 \| DISEASES 5050 \| PAFAH1B3 \| DISEASES 10998 \| SLC27A5 \| DISEASES 2033 \| EP300 \| DISEASES 2891 \| GRIA2 \| DISEASES 7067 \| THRA \| DISEASES 80725 \| SRCIN1 \| DISEASES 64374 \| SIL1 \| DISEASES 10512 \| SEMA3C \| DISEASES 55749 \| CCAR1 \| DISEASES 3263 \| HPX \| DISEASES 775 \| CACNA1C \| DISEASES 5428 \| POLG \| DISEASES 4240 \| MFGE8 \| DISEASES 8128 \| ST8SIA2 \| DISEASES 6531 \| SLC6A3 \| DISEASES 3782 \| KCNN3 \| DISEASES 7220 \| TRPC1 \| DISEASES 1393 \| CRHBP \| DISEASES 2561 \| GABRB2 \| DISEASES 154197 \| PNLDC1 \| DISEASES 3358 \| HTR2C \| DISEASES 139818 \| DOCK11 \| DISEASES 6570 \| SLC18A1 \| DISEASES 1392 \| CRH \| DISEASES 4915 \| NTRK2 \| DISEASES 288 \| ANK3 \| DISEASES 339896 \| GADL1 \| DISEASES 223117 \| SEMA3D \| DISEASES 23522 \| KAT6B \| DISEASES 6529 \| SLC6A1 \| DISEASES 3763 \| KCNJ6 \| DISEASES 3362 \| HTR6 \| DISEASES 5909 \| RAP1GAP \| DISEASES 2560 \| GABRB1 \| DISEASES 8927 \| BSN \| DISEASES 1672 \| DEFB1 \| DISEASES 6571 \| SLC18A2 \| DISEASES 79803 \| HPS6 \| DISEASES 762 \| CA4 \| DISEASES 4909 \| NTF4 \| DISEASES 91752 \| ZNF804A \| DISEASES 5940 \| RBMY1A1 \| DISEASES 25928 \| SOSTDC1 \| DISEASES 7386 \| UQCRFS1 \| DISEASES 125 \| ADH1B \| DISEASES 255239 \| ANKK1 \| DISEASES 2752 \| GLUL \| DISEASES 54715 \| RBFOX1 \| DISEASES 1808 \| DPYSL2 \| DISEASES 10125 \| RASGRP1 \| DISEASES 56945 \| MRPS22 \| DISEASES 3350 \| HTR1A \| DISEASES 115207 \| KCTD12 \| DISEASES 1960 \| EGR3 \| DISEASES 6482 \| ST3GAL1 \| DISEASES 783 \| CACNB2 \| DISEASES 9520 \| NPEPPS \| DISEASES 3355 \| HTR1F \| DISEASES 3309 \| HSPA5 \| DISEASES 4729 \| NDUFV2 \| DISEASES 1812 \| DRD1 \| DISEASES 147719 \| LYPD4 \| DISEASES 121278 \| TPH2 \| DISEASES 596 \| BCL2 \| DISEASES 2894 \| GRID1 \| DISEASES 277 \| AMY1B \| DISEASES 90134 \| KCNH7 \| DISEASES 25830 \| SULT4A1 \| DISEASES 5813 \| PURA \| DISEASES 51807 \| TUBA8 \| DISEASES 245910 \| DEFB107A \| DISEASES 2558 \| GABRA5 \| DISEASES 25818 \| KLK5 \| DISEASES 57142 \| RTN4 \| DISEASES 3363 \| HTR7 \| DISEASES 4862 \| NPAS2 \| DISEASES 9369 \| NRXN3 \| DISEASES 1429 \| CRYZ \| DISEASES 84062 \| DTNBP1 \| DISEASES 259307 \| IL4I1 \| DISEASES 26053 \| AUTS2 \| DISEASES 6925 \| TCF4 \| DISEASES 503614 \| DEFB107B \| DISEASES 3084 \| NRG1 \| DISEASES 5625 \| PRODH \| DISEASES 8936 \| WASF1 \| DISEASES 1565 \| CYP2D6 \| DISEASES 104 \| ADARB1 \| DISEASES 1312 \| COMT \| DISEASES 4540 \| MT-ND5 \| DISEASES 1813 \| DRD2 \| DISEASES 8863 \| PER3 \| DISEASES 2913 \| GRM3 \| DISEASES 27185 \| DISC1 \| DISEASES 7257 \| TSNAX \| DISEASES 83881 \| MIXL1 \| DISEASES 5321 \| PLA2G4A \| DISEASES 103 \| ADAR \| DISEASES 85413 \| SLC22A16 \| DISEASES 23632 \| CA14 \| DISEASES 9557 \| CHD1L \| DISEASES 278 \| AMY1C \| DISEASES 276 \| AMY1A \| DISEASES 115004 \| MB21D1 \| DISEASES 5453 \| POU3F1 \| DISEASES 2899 \| GRIK3 \| DISEASES 2914 \| GRM4 \| DISEASES 26119 \| LDLRAP1 \| DISEASES 23569 \| PADI4 \| DISEASES 267012 \| DAOA \| DISEASES 6096 \| RORB \| DISEASES 3356 \| HTR2A \| DISEASES 4897 \| NRCAM \| DISEASES 2625 \| GATA3 \| DISEASES 7222 \| TRPC3 \| DISEASES 10300 \| KATNB1 \| DISEASES 8544 \| PIR \| DISEASES 833 \| CARS \| DISEASES 415 \| ARSE \| DISEASES 6526 \| SLC5A3 \| DISEASES 7053 \| TGM3 \| DISEASES 1010 \| CDH12 \| DISEASES 1814 \| DRD3 \| DISEASES 406 \| ARNTL \| DISEASES 3122 \| HLA-DRA \| DISEASES 5048 \| PAFAH1B1 \| DISEASES 4905 \| NSF \| DISEASES 57708 \| MIER1 \| DISEASES 1135 \| CHRNA2 \| DISEASES 10163 \| WASF2 \| DISEASES 5999 \| RGS4 \| DISEASES 7124 \| TNF \| DISEASES 10216 \| PRG4 \| DISEASES 221833 \| SP8 \| DISEASES 627 \| BDNF \| DISEASES 5793 \| PTPRG \| DISEASES 83857 \| TMTC1 \| DISEASES 5027 \| P2RX7 \| DISEASES 1961 \| EGR4 \| DISEASES 283120 \| H19 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1729
Disease	bipolar i disorder
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:15) HP:0100754 \| Mania \| 11 HP:0000716 \| Depression \| 10 HP:0000709 \| Psychosis \| 5 HP:0000713 \| Agitation \| 2 HP:0100033 \| Tic disorder \| 1 HP:0000757 \| Lack of insight \| 1 HP:0001300 \| Parkinsonism \| 1 HP:0001631 \| Atria septal defect \| 1 HP:0002870 \| Obstructive sleep apnea \| 1 HP:0100543 \| Cognitive deficits \| 1 HP:0100710 \| Impulsivity \| 1 HP:0002104 \| Absence of spontaneous respiration \| 1 HP:0100753 \| Schizophrenia \| 1 HP:0001305 \| Dandy-Walker cyst \| 1 HP:0010535 \| Sleep apnea \| 1

Disease ID	1729
Disease	bipolar i disorder
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:6) C0011570 \| depression \| 10 C0033975 \| psychosis \| 5 C0086132 \| depressive symptoms \| 5 C0085631 \| agitation \| 2 C2232697 \| mood symptoms \| 1 C0871189 \| psychotic symptoms \| 1

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

All Snps(Total Genotypes:15)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs11001178	24444492	9369	NRXN3	umls:C0853193	BeFree	For markers genotyped in replication samples, rs7619173 exhibited a significant association (P(combined) = 2 ∗ 10(-4)) after multiple testing correction, while markers rs11001178 (MYST4) and rs2217887 (NRXN3) showed weak associations (P(combined) = 0.02) with BPD-I.	0.000271442	2014	KAT6B	10	74842047	T	C
rs11001178	24444492	23522	KAT6B	umls:C0853193	BeFree	For markers genotyped in replication samples, rs7619173 exhibited a significant association (P(combined) = 2 ∗ 10(-4)) after multiple testing correction, while markers rs11001178 (MYST4) and rs2217887 (NRXN3) showed weak associations (P(combined) = 0.02) with BPD-I.	0.000271442	2014	KAT6B	10	74842047	T	C
rs1618355	16252251	1673	DEFB4A	umls:C0853193	BeFree	SNP rs1618355 in intron 18 was significantly associated with BD as a whole (P < 7.0 x 10(-5); odds ratio (OR) = 2.60), and when stratified into BD-I (P < 7.0 x 10(-5), OR = 2.48) and BD-II (P = 7.0 x 10(-5), OR = 2.88) subgroups.	0.000271442	2006	TRPM2	21	44406579	C	A,G
rs2217887	24444492	23522	KAT6B	umls:C0853193	BeFree	For markers genotyped in replication samples, rs7619173 exhibited a significant association (P(combined) = 2 ∗ 10(-4)) after multiple testing correction, while markers rs11001178 (MYST4) and rs2217887 (NRXN3) showed weak associations (P(combined) = 0.02) with BPD-I.	0.000271442	2014	NRXN3	14	79417482	T	C
rs2217887	24444492	9369	NRXN3	umls:C0853193	BeFree	For markers genotyped in replication samples, rs7619173 exhibited a significant association (P(combined) = 2 ∗ 10(-4)) after multiple testing correction, while markers rs11001178 (MYST4) and rs2217887 (NRXN3) showed weak associations (P(combined) = 0.02) with BPD-I.	0.000271442	2014	NRXN3	14	79417482	T	C
rs386602118	16152572	627	BDNF	umls:C0853193	BeFree	Confirmation of association between the Val66Met polymorphism in the brain-derived neurotrophic factor (BDNF) gene and bipolar I disorder.	0.000814326	2005	NA	NA	NA	NA	NA
rs5326	25233244	1812	DRD1	umls:C0853193	BeFree	Significant interactions between polymorphisms of rs5326 in DRD1 gene and phenotype (affected or unaffected with BD-I) were found in non-perseverative errors (β=3.20 and Corrected P=0.0034) on the Wisconsin Card Sorting Test (WCST).	0.000542884	2014	DRD1	5	175443193	C	T
rs6318	25596490	6532	SLC6A4	umls:C0853193	BeFree	The serotonin transporter (5-HTTLPR) but not serotonin receptor (5-HT2C Cys23Ser) variant is associated with bipolar I disorder in Kurdish population from Western Iran.	0.000542884	2015	HTR2C;LOC105373313	X	114731326	C	G
rs6318	25596490	3358	HTR2C	umls:C0853193	BeFree	The serotonin transporter (5-HTTLPR) but not serotonin receptor (5-HT2C Cys23Ser) variant is associated with bipolar I disorder in Kurdish population from Western Iran.	0.000271442	2015	HTR2C;LOC105373313	X	114731326	C	G
rs662	21783258	5444	PON1	umls:C0853193	BeFree	Association between bipolar I disorder and the L55M and Q192R polymorphisms of the paraoxonase 1 (PON1) gene.	0.000271442	2012	PON1	7	95308134	T	C
rs7619173	24444492	9369	NRXN3	umls:C0853193	BeFree	For markers genotyped in replication samples, rs7619173 exhibited a significant association (P(combined) = 2 ∗ 10(-4)) after multiple testing correction, while markers rs11001178 (MYST4) and rs2217887 (NRXN3) showed weak associations (P(combined) = 0.02) with BPD-I.	0.000271442	2014	SOX2-OT	3	181279171	C	T
rs7619173	24444492	23522	KAT6B	umls:C0853193	BeFree	For markers genotyped in replication samples, rs7619173 exhibited a significant association (P(combined) = 2 ∗ 10(-4)) after multiple testing correction, while markers rs11001178 (MYST4) and rs2217887 (NRXN3) showed weak associations (P(combined) = 0.02) with BPD-I.	0.000271442	2014	SOX2-OT	3	181279171	C	T
rs854560	21783258	5444	PON1	umls:C0853193	BeFree	Association between bipolar I disorder and the L55M and Q192R polymorphisms of the paraoxonase 1 (PON1) gene.	0.000271442	2012	PON1	7	95316772	A	C,G,N,T
rs956572	23072837	596	BCL2	umls:C0853193	BeFree	Bcl-2 rs956572 polymorphism is associated with increased anterior cingulate cortical glutamate in euthymic bipolar I disorder.	0.000542884	2013	BCL2	18	63153338	A	G
rs956572	21320251	596	BCL2	umls:C0853193	BeFree	Bcl-2 SNP rs956572 associates with disrupted intracellular calcium homeostasis in bipolar I disorder.	0.000542884	2011	BCL2	18	63153338	A	G

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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