PhenoModifier-Gene Detail

Gene "STIP1"

Found 3 records

Gene information

Gene symbol:

STIP1

See related:

Ensembl: ENSG00000168439, Gene ID: 10963

Additive variants :

Detected

Genetic interaction partners

Confidence	Stringent (ε>0.16 or ε<-0.12)	Intermediate (-0.16≤ε≤-0.08 or 0.08≤ε≤0.16)	Lenient (\|ε\|<0.08)
Positive interactions	KIAA1109 PPAT RPL13A PELO TKFC CHKA ERMP1
Negative interactions	DNAJA4 NMNAT1 RTN4IP1 HSPA4L FA2H ABCB9 HGH1 SRM TBK1 LIAS RANGRF ATXN2 ARL1 show allhide

Modifier statisitcs

Record:

Disorder:

Vriant:

Reference:

Effect type:

Expressivity(3)

Modifier effect:

Altered response to corticosteroid(3)

Details：

Variant 1:

STIP1:c.814-138C>T

Gene:

STIP1

Genomic location:

chr11:63964605

dbSNP ID:

rs2236647

Target disease:

Asthma(DOID_2841)

Effect type:

Expressivity

Modifier effect:

Altered response to corticosteroid

Evidence:

From review article

Effect:

Mutations in STIP1 is Associated with corticosteroid response

Reference:

PMID22455494

Title:

Genetic basis for personalized medicine in asthma.

Species studied:

Human

Abstract:

There is heterogeneity in patient responses to current asthma medications. Significant progress has been made identifying genetic polymorphisms that influence the efficacy and potential for adverse effects to asthma drugs, including; β(2)-adrenergic receptor agonists, corticosteroids and leukotriene modifiers. Pharmacogenetics holds great promise to maximise clinical outcomes and minimize adverse effects. Asthma is heterogeneous with respect to clinical presentation and inflammatory mechanisms underlying the disease, which is likely to contribute to variable results in clinical trials targeting specific inflammatory mediators. Genome-wide association studies have begun to identify genes underlying asthma (e.g., IL1RL1), which represent future therapeutic targets. In this article, we review and update the pharmacogenetics of current asthma therapies and discuss the genetics underlying selected Phase II and future targets.
Variant 2:

STIP1:c.151-1291A>C

Gene:

STIP1

Genomic location:

chr11:63959259

dbSNP ID:

rs4980524

Target disease:

Asthma(DOID_2841)

Effect type:

Expressivity

Modifier effect:

Altered response to corticosteroid

Evidence:

From review article

Effect:

Mutations in STIP1 is Associated with corticosteroid response

Reference:

PMID22455494

Title:

Genetic basis for personalized medicine in asthma.

Species studied:

Human

Abstract:

There is heterogeneity in patient responses to current asthma medications. Significant progress has been made identifying genetic polymorphisms that influence the efficacy and potential for adverse effects to asthma drugs, including; β(2)-adrenergic receptor agonists, corticosteroids and leukotriene modifiers. Pharmacogenetics holds great promise to maximise clinical outcomes and minimize adverse effects. Asthma is heterogeneous with respect to clinical presentation and inflammatory mechanisms underlying the disease, which is likely to contribute to variable results in clinical trials targeting specific inflammatory mediators. Genome-wide association studies have begun to identify genes underlying asthma (e.g., IL1RL1), which represent future therapeutic targets. In this article, we review and update the pharmacogenetics of current asthma therapies and discuss the genetics underlying selected Phase II and future targets.
Variant 3:

STIP1:c.151-1194A>G

Gene:

STIP1

Genomic location:

chr11:63959356

dbSNP ID:

rs6591838

Target disease:

Asthma(DOID_2841)

Effect type:

Expressivity

Modifier effect:

Altered response to corticosteroid

Evidence:

From review article

Effect:

Mutations in STIP1 is Associated with corticosteroid response

Reference:

PMID22455494

Title:

Genetic basis for personalized medicine in asthma.

Species studied:

Human

Abstract:

There is heterogeneity in patient responses to current asthma medications. Significant progress has been made identifying genetic polymorphisms that influence the efficacy and potential for adverse effects to asthma drugs, including; β(2)-adrenergic receptor agonists, corticosteroids and leukotriene modifiers. Pharmacogenetics holds great promise to maximise clinical outcomes and minimize adverse effects. Asthma is heterogeneous with respect to clinical presentation and inflammatory mechanisms underlying the disease, which is likely to contribute to variable results in clinical trials targeting specific inflammatory mediators. Genome-wide association studies have begun to identify genes underlying asthma (e.g., IL1RL1), which represent future therapeutic targets. In this article, we review and update the pharmacogenetics of current asthma therapies and discuss the genetics underlying selected Phase II and future targets.