Disease browser and phenotype portal

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

Disease Browser
Parent Node: Capillary Malformations, Congenital, 1 (C562760)
Parent Node: Diseases (C)
Parent Node: Port-Wine Stain (D019339)
..Starting node ..CAPILLARY MALFORMATIONS, CONGENITAL (OMIM:163000)
Child Nodes:
Sister Nodes:
..Capillary Malformation-Arteriovenous Malformation (C564254)
..CAPILLARY MALFORMATIONS, CONGENITAL (OMIM:163000)
..Nevi flammei, familial multiple (C535816)
..Nevus Flammeus of Nape of Neck (C567524)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1627

Name:

CAPILLARY MALFORMATIONS, CONGENITAL

Definition:

Alternative IDs:

ParentIDs:

MESH:C562760|MESH:D019339

TreeNumbers:

C14.240.850/C562760/163000 |C16.131.240.850/C562760/163000 |C16.131.831.675/163000 |C17.800.804.675/163000

Synonyms:

CAPILLARY MALFORMATIONS |CMAL |CMC |NEVI FLAMMEI, FAMILIAL MULTIPLE |PORT-WINE STAIN

Slim Mappings:

Cardiovascular disease|Congenital abnormality|Skin disease

Reference:

MedGen: 163000
MeSH: 163000
OMIM: 163000;

Genes: GNAQ;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001052	Nevus flammeus

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	Disease_hgmd
NM_002072.4(GNAQ):c.548G>A (p.Arg183Gln)	2776	GNAQ	Pathogenic	397514698	RCV000043593; RCV000043592;	N	Gene:246230,MedGen:C0340803,OMIM:163000,ORPHA:211247; MedGen:C0038505,OMIM:185300,ORPHA:3205	9	80412493	80412493	NM_002072.4:c.548G>A	NP_002063.2:p.Arg183Gln	NC_000009.11:g.80412493C>T	OMIM Allelic Variant:600998.0001	C0340803 163000 Capillary malformations, congenital, 1; C0038505 185300 Sturge-Weber syndrome