PedAM

Pediatric Disease Annotations & Medicines


	short qt syndrome

Disease ID	1186
Disease	short qt syndrome
Definition	Ventricular tachyarrhythmias occurring in association with short QT syndrome.
Synonym	short qt syndrome (disorder) ventricular arrhythmia associated with short qt syndrome
DOID	DOID:0050793
UMLS	C2348199
SNOMED-CT	SNOMEDCT_US_2016_09_01:698272007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0011570 \| depression \| 3
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) KCNH2 \| 3757 \| CLINVAR;GHR KCNQ1 \| 3784 \| CLINVAR;GHR KCNJ2 \| 3759 \| CLINVAR;GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:40) 3784 \| KCNQ1 \| DISEASES 6193 \| RPS5 \| DISEASES 4256 \| MGP \| DISEASES 3764 \| KCNJ8 \| DISEASES 3759 \| KCNJ2 \| DISEASES 6626 \| SNRPA \| DISEASES 53947 \| A4GALT \| DISEASES 3741 \| KCNA5 \| DISEASES 845 \| CASQ2 \| DISEASES 3757 \| KCNH2 \| DISEASES 775 \| CACNA1C \| DISEASES 4851 \| NOTCH1 \| DISEASES 23171 \| GPD1L \| DISEASES 1562 \| CYP2C18 \| DISEASES 9992 \| KCNE2 \| DISEASES 55800 \| SCN3B \| DISEASES 2733 \| GLE1 \| DISEASES 171389 \| NLRP6 \| DISEASES 10008 \| KCNE3 \| DISEASES 3752 \| KCND3 \| DISEASES 783 \| CACNB2 \| DISEASES 6331 \| SCN5A \| DISEASES 3753 \| KCNE1 \| DISEASES 859 \| CAV3 \| DISEASES 7273 \| TTN \| DISEASES 10142 \| AKAP9 \| DISEASES 781 \| CACNA2D1 \| DISEASES 287 \| ANK2 \| DISEASES 84665 \| MYPN \| DISEASES 23607 \| CD2AP \| DISEASES 4519 \| MT-CYB \| DISEASES 9722 \| NOS1AP \| DISEASES 7179 \| TPTE \| DISEASES 6262 \| RYR2 \| DISEASES 3745 \| KCNB1 \| DISEASES 1804 \| DPP6 \| DISEASES 56953 \| NT5M \| DISEASES 23327 \| NEDD4L \| DISEASES 6324 \| SCN1B \| DISEASES 30819 \| KCNIP2 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1186
Disease	short qt syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:4) HP:0000716 \| Depression \| 3 HP:0005110 \| Atrial fibrillation \| 2 HP:0012266 \| T-wave alternans \| 1 HP:0011675 \| Arrhythmias \| 1

Disease ID	1186
Disease	short qt syndrome
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:11)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894021	NA	3757	KCNH2	umls:C2348199	CLINVAR	NA	0.122442977	NA	KCNH2	7	150951629	G	T,C
rs104894021	16039272	3757	KCNH2	umls:C2348199	BeFree	Modulation of I(Kr) inactivation by mutation N588K in KCNH2: a link to arrhythmogenesis in short QT syndrome.	0.122442977	2005	KCNH2	7	150951629	G	T,C
rs104894021	15761194	3757	KCNH2	umls:C2348199	BeFree	Hence, unlike the known mutations in the two other SQTS forms (N588K in HERG and V307L in KvLQT1), simulations using the D172N and WT/D172N mutations fully accounted for the ECG phenotype of tall and asymmetrically shaped T waves.	0.122442977	2005	KCNH2	7	150951629	G	T,C
rs104894021	15761194	3784	KCNQ1	umls:C2348199	BeFree	Hence, unlike the known mutations in the two other SQTS forms (N588K in HERG and V307L in KvLQT1), simulations using the D172N and WT/D172N mutations fully accounted for the ECG phenotype of tall and asymmetrically shaped T waves.	0.121628651	2005	KCNH2	7	150951629	G	T,C
rs104894584	NA	3759	KCNJ2	umls:C2348199	CLINVAR	NA	0.121628651	NA	KCNJ2	17	70175553	G	A
rs120074195	15761194	3757	KCNH2	umls:C2348199	BeFree	Hence, unlike the known mutations in the two other SQTS forms (N588K in HERG and V307L in KvLQT1), simulations using the D172N and WT/D172N mutations fully accounted for the ECG phenotype of tall and asymmetrically shaped T waves.	0.122442977	2005	KCNQ1	11	2572984	G	C
rs120074195	NA	3784	KCNQ1	umls:C2348199	CLINVAR	NA	0.121628651	NA	KCNQ1	11	2572984	G	C
rs120074195	15761194	3784	KCNQ1	umls:C2348199	BeFree	Hence, unlike the known mutations in the two other SQTS forms (N588K in HERG and V307L in KvLQT1), simulations using the D172N and WT/D172N mutations fully accounted for the ECG phenotype of tall and asymmetrically shaped T waves.	0.121628651	2005	KCNQ1	11	2572984	G	C
rs199472841	NA	3757	KCNH2	umls:C2348199	CLINVAR	NA	0.122442977	NA	KCNH2	7	150974868	C	A
rs199472947	NA	3757	KCNH2	umls:C2348199	CLINVAR	NA	0.122442977	NA	KCNH2	7	150951540	G	C,A
rs199473547	NA	3757	KCNH2	umls:C2348199	CLINVAR	NA	0.122442977	NA	KCNH2	7	150945441	C	T

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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