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Disease Browser
Parent Node: Autoimmune Diseases (D001327)
Parent Node: Vitiligo (D014820)
..Starting node ..VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (OMIM:606579)
Child Nodes:
Sister Nodes:
..Alopecia universalis onychodystrophy vitiligo (C537056)
..AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:607836)
..AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 2 (OMIM:608391)
..AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 3 (OMIM:608392)
..AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 4 (OMIM:609400)
..Deafness, Congenital, with Vitiligo and Achalasia (C565642)
..Schrander-Stumpel Theunissen Hulsmans syndrome (C536639)
..Spastic paraplegia 23 (C536859)
..Vitiligo, Progressive, with Mental Retardation and Urethral Duplication (C564739)
..VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (OMIM:606579)
..VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 6 (OMIM:193200)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11640

Name:

VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1

Definition:

Alternative IDs:

ParentIDs:

MESH:D001327|MESH:D014820

TreeNumbers:

C17.800.621.440.895/606579 |C20.111/606579

Synonyms:

SLEV1 |SYSTEMIC LUPUS ERYTHEMATOSUS, VITILIGO-RELATED |VAMAS1 |VITILIGO |VTLG

Slim Mappings:

Immune system disease|Skin disease

Reference:

MedGen: 606579
MeSH: 606579
OMIM: 606579;

Genes: NLRP1;

Phenotypes

1	HP:0010982	Polygenic inheritance
2	HP:0001045	Vitiligo

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_001033053.2(NLRP1):c.464T>A (p.Leu155His)	22861	NLRP1	risk factor	12150220	RCV000004380;	N	MedGen:C1847835,OMIM:606579	17	5485367	5485367	NM_001033053.2:c.464T>A	NP_001028225.1:p.Leu155His	NC_000017.10:g.5485367A>T	OMIM Allelic Variant:606636.0001	C1847835 606579 Vitiligo-associated multiple autoimmune disease susceptibility 1