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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Atrial Fibrillation (D001281)
..Starting node ..Atrial Fibrillation, Familial, 3 (C563817)
Child Nodes:
Sister Nodes:
..Atrial fibrillation, familial 1 (C538261)
..Atrial Fibrillation, Familial, 2 (C563903)
..Atrial Fibrillation, Familial, 3 (C563817)
..Atrial Fibrillation, Familial, 4 (C566244)
..Atrial Fibrillation, Familial, 5 (C566932)
..Atrial Fibrillation, Familial, 6 (C567400)
..Atrial Fibrillation, Familial, 7 (C567389)
..Atrial Fibrillation, Familial, 8 (C567802)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1015

Name:

Atrial Fibrillation, Familial, 3

Definition:

Alternative IDs:

OMIM:607554

ParentIDs:

MESH:D001281

TreeNumbers:

C14.280.067.198/C563817 |C23.550.073.198/C563817

Synonyms:

ATFB3

Slim Mappings:

Cardiovascular disease|Pathology (process)

Reference:

MedGen: C563817
MeSH: C563817
OMIM: 607554;

Genes: KCNQ1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0005110	Atrial fibrillation
3	HP:0001425	Heterogeneous
4	HP:0001649	Tachycardia
5	HP:0001727	Thromboembolic stroke
6	HP:0001727	Thromboembolic stroke	HP:0040282

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000218.2(KCNQ1):c.160_168dupATCGCGCCC (p.Pro56_Gly57insIleAlaPro)	3784	KCNQ1	Likely benign;Pathogenic;Uncertain significance	397515877	RCV000114749; RCV000182075; RCV000205136; RCV000035343; RCV000046005;	N	MedGen:C0023976,SNOMED CT:9651007; MedGen:C1837014,OMIM:607554; MedGen:CN029864,OMIM:115000; MedGen:CN169374; MedGen:CN177655	11	2466488	2466496	NM_000218.2:c.160_168dupATCGCGCCC	NP_000209.2:p.Pro56_Gly57insIleAlaPro	NC_000011.9:g.2466488_2466496dupATCGCGCCC	OMIM Allelic Variant:607542.0041	C1837014 607554 Atrial fibrillation, familial, 3; CN029864 115000 Cardiac arrhythmia; C0023976 Long QT syndrome; CN177655 Long QT syndrome, LQT1 subtype; CN169374 not specified
NM_000218.2(KCNQ1):c.418A>G (p.Ser140Gly)	3784	KCNQ1	Pathogenic	120074192	RCV000003293; RCV000057673;	N	EFO:EFO_0000275,Human Phenotype Ontology:HP:0001715,Human Phenotype Ontology:HP:0005110,Human Phenotype Ontology:HP:0005179,MedGen:C1963067; MedGen:C1837014,OMIM:607554	11	2549189	2549189	NM_000218.2:c.418A>G	NP_000209.2:p.Ser140Gly	NC_000011.9:g.2549189A>G	OMIM Allelic Variant:607542.0032	C1963067 Atrial fibrillation; C1837014 607554 Atrial fibrillation, familial, 3
NM_000218.2(KCNQ1):c.625T>C (p.Ser209Pro)	3784	KCNQ1	Pathogenic	199472705	RCV000115006; RCV000057725;	N	EFO:EFO_0000275,Human Phenotype Ontology:HP:0001715,Human Phenotype Ontology:HP:0005110,Human Phenotype Ontology:HP:0005179,MedGen:C1963067; MedGen:C1837014,OMIM:607554	11	2592575	2592575	NM_000218.2:c.625T>C	NP_000209.2:p.Ser209Pro	NC_000011.9:g.2592575T>C	OMIM Allelic Variant:607542.0042	C1963067 Atrial fibrillation; C1837014 607554 Atrial fibrillation, familial, 3
NM_000218.2(KCNQ1):c.686G>A (p.Gly229Asp)	3784	KCNQ1	Pathogenic	199472708	RCV000115009; RCV000182099; RCV000046105; RCV000057732;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:C1837014,OMIM:607554; MedGen:CN177655; MedGen:CN221809	11	2593245	2593245	NM_000218.2:c.686G>A	NP_000209.2:p.Gly229Asp	NC_000011.9:g.2593245G>A	OMIM Allelic Variant:607542.0044	C1837014 607554 Atrial fibrillation, familial, 3; C1141890 Congenital long QT syndrome; CN177655 Long QT syndrome, LQT1 subtype; CN221809 not provided
NM_000218.2(KCNQ1):c.692G>A (p.Arg231His)	3784	KCNQ1	Pathogenic	199472709	RCV000115008; RCV000115007; RCV000046107; RCV000182101; RCV000057734;	N	MedGen:C0023976,SNOMED CT:9651007; MedGen:C0035828,OMIM:192500,ORPHA:101016,SNOMED CT:20852007; MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:C1837014,OMIM:607554; MedGen:CN221809	11	2593251	2593251	NM_000218.2:c.692G>A	NP_000209.2:p.Arg231His	NC_000011.9:g.2593251G>A	OMIM Allelic Variant:607542.0043	C1837014 607554 Atrial fibrillation, familial, 3; C1141890 Congenital long QT syndrome; C0023976 Long QT syndrome; C0035828 192500 Long QT syndrome 1; CN221809 not provided