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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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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Heart Septal Defects (D006343)
Parent Node: Heterotaxy Syndrome (D059446)
..Starting node ..Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome (C565249)
Child Nodes:
Sister Nodes:
..Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome (C565249)
..Heterotaxy, Visceral, 3, Autosomal (C565237)
..Heterotaxy, visceral, X-linked (C538116)
..Heterotaxy, Visceroatrial, Autosomal Recessive (C566864)
..Laterality Defects, Autosomal Dominant (C563391)
..Left-Right Axis Malformations (C566610)
..Polyasplenia (C566862)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1045

Name:

Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome

Definition:

Alternative IDs:

OMIM:606217

ParentIDs:

MESH:D006343|MESH:D059446

TreeNumbers:

C14.240.400.560/C565249 |C14.240.400.592/C565249 |C14.280.400.560/C565249 |C14.280.400.592/C565249 |C15.604.744.146/C565249 |C16.131.077.401/C565249 |C16.131.240.400.560/C565249 |C16.131.240.400.592/C565249

Synonyms:

ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2;AVSD2 ATRIOVENTRICULAR SEPTAL DEFECT, PARTIAL, WITH HETEROTAXY SYNDROME, |INCLUDED

Slim Mappings:

Cardiovascular disease|Congenital abnormality|Lymphatic disease

Reference:

MedGen: C565249
MeSH: C565249
OMIM: 606217;

Genes: CRELD1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0006695	Atrioventricular canal defect
3	HP:0001651	Dextrocardia
4	HP:0001425	Heterogeneous
5	HP:0003829	Incomplete penetrance
6	HP:0004935	Pulmonary artery atresia
7	HP:0002627	Right aortic arch with mirror image branching

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_001031717.3(CRELD1):c.484C>G (p.Pro162Ala)	78987	CRELD1	risk factor	121912626	RCV000003599;	N	MedGen:C1853508,OMIM:606217	3	9982557	9982557	NM_001031717.3:c.484C>G	NP_001026887.1:p.Pro162Ala	NC_000003.11:g.9982557C>G	OMIM Allelic Variant:607170.0004	C1853508 606217 Atrioventricular septal defect 2
NM_001031717.3(CRELD1):c.932C>T (p.Thr311Ile)	78987	CRELD1	risk factor	28942092	RCV000003597;	N	MedGen:C1853508,OMIM:606217	3	9985083	9985083	NM_001031717.3:c.932C>T	NP_001026887.1:p.Thr311Ile	NC_000003.11:g.9985083C>T	OMIM Allelic Variant:607170.0002	C1853508 606217 Atrioventricular septal defect 2
NM_001031717.3(CRELD1):c.985C>T (p.Arg329Cys)	78987	CRELD1	risk factor	28942091	RCV000003596;	N	MedGen:C1853508,OMIM:606217	3	9985136	9985136	NM_001031717.3:c.985C>T	NP_001026887.1:p.Arg329Cys	NC_000003.11:g.9985136C>T	OMIM Allelic Variant:607170.0001	C1853508 606217 Atrioventricular septal defect 2
NM_001077415.2(CRELD1):c.1240G>A (p.Glu414Lys)	78987	CRELD1	risk factor	121912627	RCV000003600;	N	MedGen:C1853508,OMIM:606217	3	9986240	9986240	NM_001077415.2:c.1240G>A	NP_001070883.1:p.Glu414Lys	NC_000003.11:g.9986240G>A	OMIM Allelic Variant:607170.0005	C1853508 606217 Atrioventricular septal defect 2