DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Schimke immunoosseous dysplasia ×

Variant: rs119473033 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs119473033

SMARCAL1

CUI:	C0877024
Disease:	Schimke immunoosseous dysplasia

Schimke immunoosseous dysplasia

0.700

CausalMutation

CLINVAR

Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia.

28796785

2017

dbSNP:

rs119473033

SMARCAL1

CUI:	C0877024
Disease:	Schimke immunoosseous dysplasia

Schimke immunoosseous dysplasia

0.700

CausalMutation

CLINVAR

Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).

26499378

2015

dbSNP:

rs119473033

SMARCAL1

CUI:	C0877024
Disease:	Schimke immunoosseous dysplasia

Schimke immunoosseous dysplasia

0.700

CausalMutation

CLINVAR

A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD).

24589093

2014

dbSNP:

rs119473033

SMARCAL1

CUI:	C0877024
Disease:	Schimke immunoosseous dysplasia

Schimke immunoosseous dysplasia

0.700

CausalMutation

CLINVAR

Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

22998683

2012

dbSNP:

rs119473033

SMARCAL1

CUI:	C0877024
Disease:	Schimke immunoosseous dysplasia

Schimke immunoosseous dysplasia

0.700

CausalMutation

CLINVAR

Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia.

21914180

2011

dbSNP:

rs119473033

SMARCAL1

CUI:	C0877024
Disease:	Schimke immunoosseous dysplasia

Schimke immunoosseous dysplasia

0.700

CausalMutation

CLINVAR

Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation.

18805831

2009

dbSNP:

rs119473033

SMARCAL1

CUI:	C0877024
Disease:	Schimke immunoosseous dysplasia

Schimke immunoosseous dysplasia

0.700

CausalMutation

CLINVAR

SMARCAL1 mutations: a cause of prepubertal idiopathic steroid-resistant nephrotic syndrome.

19127206

2009

dbSNP:

rs119473033

SMARCAL1

CUI:	C0877024
Disease:	Schimke immunoosseous dysplasia

Schimke immunoosseous dysplasia

0.700

CausalMutation

CLINVAR

Schimke immunoosseous dysplasia: suggestions of genetic diversity.

17089404

2007

dbSNP:

rs119473033

SMARCAL1

CUI:	C0877024
Disease:	Schimke immunoosseous dysplasia

Schimke immunoosseous dysplasia

0.700

CausalMutation

CLINVAR

Schimke immuno-osseous dysplasia: a clinicopathological correlation.

16840568

2007

dbSNP:

rs119473033

SMARCAL1

CUI:	C0877024
Disease:	Schimke immunoosseous dysplasia

Schimke immunoosseous dysplasia

0.700

CausalMutation

CLINVAR

Schimke-immuno-osseous dysplasia: new mutation with weak genotype-phenotype correlation in siblings.

15880370

2005

dbSNP:

rs119473033

SMARCAL1

CUI:	C0877024
Disease:	Schimke immunoosseous dysplasia

Schimke immunoosseous dysplasia

0.700

CausalMutation

CLINVAR

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

11799392

2002

dbSNP:

rs119473033

SMARCAL1

CUI:	C0877024
Disease:	Schimke immunoosseous dysplasia

Schimke immunoosseous dysplasia

0.700

GeneticVariation

CLINVAR