PedAM

Pediatric Disease Annotations & Medicines


	long qt syndrome 2

Disease ID	1611
Disease	long qt syndrome 2
Synonym	lqt2
OMIM	OMIM:613688
UMLS	C3150943
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) KCNH2 \| 3757 \| CLINVAR;CTD_human;UNIPROT ALG10 \| 84920 \| CLINVAR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:54) 3784 \| KCNQ1 \| DISEASES 6193 \| RPS5 \| DISEASES 10273 \| STUB1 \| DISEASES 23770 \| FKBP8 \| DISEASES 3312 \| HSPA8 \| DISEASES 5341 \| PLEK \| DISEASES 3759 \| KCNJ2 \| DISEASES 821 \| CANX \| DISEASES 3741 \| KCNA5 \| DISEASES 23640 \| HSPBP1 \| DISEASES 9695 \| EDEM1 \| DISEASES 80896 \| NPL \| DISEASES 845 \| CASQ2 \| DISEASES 3757 \| KCNH2 \| DISEASES 5976 \| UPF1 \| DISEASES 9132 \| KCNQ4 \| DISEASES 10190 \| TXNDC9 \| DISEASES 7531 \| YWHAE \| DISEASES 775 \| CACNA1C \| DISEASES 5409 \| PNMT \| DISEASES 3756 \| KCNH1 \| DISEASES 375 \| ARF1 \| DISEASES 4851 \| NOTCH1 \| DISEASES 9992 \| KCNE2 \| DISEASES 2923 \| PDIA3 \| DISEASES 3308 \| HSPA4 \| DISEASES 1448 \| CSN3 \| DISEASES 8436 \| SDPR \| DISEASES 79145 \| CHCHD7 \| DISEASES 64689 \| GORASP1 \| DISEASES 11238 \| CA5B \| DISEASES 7156 \| TOP3A \| DISEASES 6331 \| SCN5A \| DISEASES 3320 \| HSP90AA1 \| DISEASES 3753 \| KCNE1 \| DISEASES 3762 \| KCNJ5 \| DISEASES 859 \| CAV3 \| DISEASES 287 \| ANK2 \| DISEASES 2764 \| GMFB \| DISEASES 3785 \| KCNQ2 \| DISEASES 23607 \| CD2AP \| DISEASES 9464 \| HAND2 \| DISEASES 7179 \| TPTE \| DISEASES 6262 \| RYR2 \| DISEASES 88 \| ACTN2 \| DISEASES 9532 \| BAG2 \| DISEASES 3745 \| KCNB1 \| DISEASES 5293 \| PIK3CD \| DISEASES 3301 \| DNAJA1 \| DISEASES 1832 \| DSP \| DISEASES 2801 \| GOLGA2 \| DISEASES 81033 \| KCNH6 \| DISEASES 196475 \| RMST \| DISEASES 100128252 \| ZNF667-AS1 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1611
Disease	long qt syndrome 2
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:1) HP:0011675 \| Arrhythmias \| 1

Disease ID	1611
Disease	long qt syndrome 2
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:32)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121908850	NA	84920	ALG10	umls:C3150943	CLINVAR	NA	0.12	NA	ALG10;LOC105376677	12	34026832	G	A
rs121912504	24623279	3757	KCNH2	umls:C3150943	BeFree	We generated LQTS2-specific CMs (A561V missense mutation in KCNH2) from iPSCs using the virus-free reprogramming method.	0.360814326	2015	KCNH2	7	150951711	G	A
rs121912504	NA	3757	KCNH2	umls:C3150943	CLINVAR	NA	0.360814326	NA	KCNH2	7	150951711	G	A
rs121912505	NA	3757	KCNH2	umls:C3150943	CLINVAR	NA	0.360814326	NA	KCNH2	7	150952574	T	C
rs121912506	NA	3757	KCNH2	umls:C3150943	CLINVAR	NA	0.360814326	NA	KCNH2	7	150948984	C	T,G
rs121912507	NA	3757	KCNH2	umls:C3150943	CLINVAR	NA	0.360814326	NA	KCNH2	7	150951511	C	T,G
rs121912508	NA	3757	KCNH2	umls:C3150943	CLINVAR	NA	0.360814326	NA	KCNH2	7	150951649	G	A
rs121912509	NA	3757	KCNH2	umls:C3150943	CLINVAR	NA	0.360814326	NA	KCNH2	7	150947477	C	T
rs121912510	NA	3757	KCNH2	umls:C3150943	CLINVAR	NA	0.360814326	NA	KCNH2	7	150948995	G	A
rs121912511	NA	3757	KCNH2	umls:C3150943	CLINVAR	NA	0.360814326	NA	KCNH2	7	150974825	T	G
rs121912512	NA	3757	KCNH2	umls:C3150943	CLINVAR	NA	0.360814326	NA	KCNH2	7	150950311	C	T
rs121912513	NA	3757	KCNH2	umls:C3150943	CLINVAR	NA	0.360814326	NA	KCNH2	7	150948866	T	G,C,A
rs121912516	NA	3757	KCNH2	umls:C3150943	CLINVAR	NA	0.360814326	NA	KCNH2	7	150951721	C	G
rs150988911	NA	3757	KCNH2	umls:C3150943	CLINVAR	NA	0.360814326	NA	KCNH2	7	150959701	C	T
rs189014161	NA	3757	KCNH2	umls:C3150943	CLINVAR	NA	0.360814326	NA	KCNH2	7	150950336	G	A,C,T
rs199472866	NA	3757	KCNH2	umls:C3150943	CLINVAR	NA	0.360814326	NA	KCNH2	7	150958484	C	T
rs199472880	NA	3757	KCNH2	umls:C3150943	CLINVAR	NA	0.360814326	NA	KCNH2	7	150958110	C	T
rs199472884	NA	3757	KCNH2	umls:C3150943	CLINVAR	NA	0.360814326	NA	KCNH2	7	150958059	C	G,A
rs199472942	NA	3757	KCNH2	umls:C3150943	CLINVAR	NA	0.360814326	NA	KCNH2	7	150951562	A	G,C
rs199472944	NA	3757	KCNH2	umls:C3150943	CLINVAR	NA	0.360814326	NA	KCNH2	7	150951552	G	A
rs199473428	NA	3757	KCNH2	umls:C3150943	CLINVAR	NA	0.360814326	NA	KCNH2	7	150951643	C	T,G,A
rs28928904	NA	3757	KCNH2	umls:C3150943	CLINVAR	NA	0.360814326	NA	KCNH2	7	150951615	A	T,G,C
rs28928904	8635257	3757	KCNH2	umls:C3150943	UNIPROT	Missense mutation in the pore region of HERG causes familial long QT syndrome.	0.360814326	1996	KCNH2	7	150951615	A	T,G,C
rs28928905	11170080	3757	KCNH2	umls:C3150943	UNIPROT	Bradycardia-induced long QT syndrome caused by a de novo missense mutation in the S2-S3 inner loop of HERG.	0.360814326	2001	KCNH2	7	150952514	C	T,G
rs28933095	12354768	3757	KCNH2	umls:C3150943	UNIPROT	A novel mutation (T65P) in the PAS domain of the human potassium channel HERG results in the long QT syndrome by trafficking deficiency.	0.360814326	2002	NA	NA	NA	NA	NA
rs36210422	NA	3757	KCNH2	umls:C3150943	CLINVAR	NA	0.360814326	NA	KCNH2	7	150958449	G	A
rs36210422	10862094	3757	KCNH2	umls:C3150943	UNIPROT	Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects.	0.360814326	2000	KCNH2	7	150958449	G	A
rs587777907	NA	3757	KCNH2	umls:C3150943	CLINVAR	NA	0.360814326	NA	KCNH2	7	150958319	T	A
rs730880116	NA	3757	KCNH2	umls:C3150943	CLINVAR	NA	0.360814326	NA	KCNH2	7	150958290	C	A
rs730880374	NA	3757	KCNH2	umls:C3150943	CLINVAR	NA	0.360814326	NA	KCNH2	7	150958132	-	C
rs77331749	NA	3757	KCNH2	umls:C3150943	CLINVAR	NA	0.360814326	NA	KCNH2	7	150947833	G	A
rs9333649	NA	3757	KCNH2	umls:C3150943	CLINVAR	NA	0.360814326	NA	KCNH2	7	150951679	C	T,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:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C3150943	arsenic trioxide	C006632	1327-53-3	long qt syndrome 2	MESH:C563614	marker/mechanism	23103450

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)